Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2038 |
| ensemblid | ENSG00000166947.15 |
| hgncid | 3381 |
| symbol | EPB42 |
| name | erythrocyte membrane protein band 4.2 |
| refseq_nuc | NM_001114134.2 |
| refseq_prot | NP_001107606.1 |
| ensembl_nuc | ENST00000441366.7 |
| ensembl_prot | ENSP00000396616.2 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 43197227 |
| end | 43221018 |
| strand | - |
| ver | v1.2 |
| region | chr15:43197227-43221018 |
| region5000 | chr15:43192227-43226018 |
| regionname0 | EPB42_chr15_43197227_43221018 |
| regionname5000 | EPB42_chr15_43192227_43226018 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 691 | 279 | 70 | 42 | 135 | 4 | 26 | 107 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| a0002 | 0/0 | 691 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| a0003 | 0/0 | 691 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| a0004 | 0/0 | 691 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| a0005 | 0/0 | 691 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| a0006 | 0/0 | 691 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | MGQAL others(686): Show |
chr15 | 43192227 | 43226018 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2073 | 259 | 58 | 40 | 129 | 4 | 26 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0001c0002 | 0/0 | 2073 | 15 | 9 | 0 | 6 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0001c0004 | 0/0 | 2073 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0001c0005 | 0/0 | 2073 | 2 | 0 | 2 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0001c0008 | 0/0 | 2073 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0002c0003 | 0/0 | 2073 | 4 | 4 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0003c0007 | 0/0 | 2073 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0003c0010 | 0/0 | 2073 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0004c0009 | 0/0 | 2073 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0005c0006 | 0/0 | 2073 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 | ||
| a0006c0011 | 0/0 | 2073 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | ATGGG others(2068): Show |
chr15 | 43192227 | 43226018 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2344 | 256 | 56 | 39 | 129 | 4 | 26 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0001t0002 | 0/0 | 2344 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0001t0003 | 0/0 | 2344 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0002t0002 | 0/0 | 2344 | 15 | 9 | 0 | 6 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0004t0002 | 0/0 | 2344 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0005t0001 | 0/0 | 2344 | 2 | 0 | 2 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0001c0008t0002 | 0/0 | 2344 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0002c0003t0001 | 0/0 | 2344 | 4 | 4 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0003c0007t0001 | 0/0 | 2344 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0003c0010t0001 | 0/0 | 2344 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0004c0009t0001 | 0/0 | 2344 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0005c0006t0001 | 0/0 | 2344 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| a0006c0011t0001 | 0/0 | 2344 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | AGGAG others(2339): Show |
chr15 | 43192227 | 43226018 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/1 | 63 | 13 | 13 | 31 | 1 | 4 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0002 | 0/0 | 35 | 8 | 4 | 22 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0003 | 0/0 | 15 | 0 | 0 | 15 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0004 | 0/0 | 9 | 0 | 2 | 4 | 0 | 3 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0005 | 0/0 | 8 | 0 | 0 | 8 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0006 | 0/0 | 7 | 0 | 3 | 0 | 1 | 3 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0007 | 0/0 | 7 | 3 | 1 | 2 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0009 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0010 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0011 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0012 | 0/0 | 3 | 1 | 0 | 1 | 1 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0013 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0014 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0015 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0016 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0019 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0020 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0021 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0023 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0025 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0001t0003g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0008 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0018 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0002t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0004t0002g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0005t0001g0024 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0001c0008t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0002c0003t0001g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0002c0003t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0002c0003t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0003c0007t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0003c0010t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0004c0009t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0005c0006t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| a0006c0011t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0006 | EUR | GBR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0012 | EUR | GBR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00621 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | CHS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0079 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0108 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01168 | hp1 | a0001 | c0005 | t0001 | g0024 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01169 | hp2 | a0001 | c0005 | t0001 | g0024 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0077 | EUR | IBS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01891 | hp2 | a0001 | c0002 | t0002 | g0033 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02055 | hp1 | a0001 | c0004 | t0002 | g0017 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0095 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02129 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02132 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0098 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | CDX | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0102 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0030 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02300 | hp1 | a0001 | c0001 | t0003 | g0043 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | KHV | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0023 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0106 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02622 | hp1 | a0001 | c0002 | t0002 | g0032 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0114 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0090 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0059 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0110 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02922 | hp1 | a0001 | c0002 | t0002 | g0018 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02965 | hp2 | a0001 | c0002 | t0002 | g0035 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02976 | hp1 | a0002 | c0003 | t0001 | g0101 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03017 | hp1 | a0003 | c0007 | t0001 | g0041 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03139 | hp1 | a0001 | c0002 | t0002 | g0031 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0034 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0023 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03516 | hp2 | a0001 | c0002 | t0002 | g0018 | AFR | ESN | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03579 | hp1 | a0002 | c0003 | t0001 | g0100 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | MSL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0088 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0013 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0109 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0091 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04184 | hp1 | a0003 | c0010 | t0001 | g0112 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0073 | SAS | STU | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0040 | SAS | STU | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0046 | SAS | STU | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0007 | SAS | STU | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | CHB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18906 | hp1 | a0001 | c0008 | t0002 | g0029 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18954 | hp1 | a0005 | c0006 | t0001 | g0056 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18980 | hp2 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19030 | hp1 | a0006 | c0011 | t0001 | g0042 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19055 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19055 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19078 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19078 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19084 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | YRI | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA20129 | hp1 | a0001 | c0004 | t0002 | g0017 | AFR | ASW | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0037 | AFR | ASW | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02109 | hp2 | a0002 | c0003 | t0001 | g0028 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02486 | hp1 | a0001 | c0002 | t0002 | g0038 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG02559 | hp2 | a0004 | c0009 | t0001 | g0068 | AFR | ACB | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | USA | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| HG06807 | hp2 | a0002 | c0003 | t0001 | g0028 | AFR | USA | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | USA | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA20300 | hp2 | a0001 | c0002 | t0002 | g0036 | AFR | USA | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0001 | REF | REF | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0049 | REF | REF | EPB42_chr15_43192227_43226018 | EPB42 | chr15 | 43192227 | 43226018 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:43197334 | C | T | 1 | a0004 | 1 | HG02559.hp2 | missense_variant | MODERATE | c.2044G>A | p.Val682Ile | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 13/13 | 2237/2344 | 2044/2076 | 682/691 | chr15 | 43197334 | |||
| chr15:43203127 | G | T | 1 | a0002 | 4 | HG02109.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
missense_variant | MODERATE | c.1767C>A | p.His589Gln | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/13 | 1960/2344 | 1767/2076 | 589/691 | chr15 | 43203127 | |||
| chr15:43207237 | C | T | 1 | a0003 | 1 | HG03017.hp1 | missense_variant | MODERATE | c.1280G>A | p.Arg427His | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/13 | 1473/2344 | 1280/2076 | 427/691 | chr15 | 43207237 | |||
| chr15:43207238 | G | A | 1 | a0003 | 1 | HG04184.hp1 | missense_variant | MODERATE | c.1279C>T | p.Arg427Cys | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/13 | 1472/2344 | 1279/2076 | 427/691 | chr15 | 43207238 | |||
| chr15:43215191 | C | T | 1 | a0005 | 1 | NA18954.hp1 | missense_variant | MODERATE | c.334G>A | p.Ala112Thr | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/13 | 527/2344 | 334/2076 | 112/691 | chr15 | 43215191 | |||
| chr15:43215269 | C | A | 1 | a0006 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.256G>T | p.Asp86Tyr | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/13 | 449/2344 | 256/2076 | 86/691 | chr15 | 43215269 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:43197329 | G | A | 1 | a0001c0004 | 2 | HG02055.hp1 NA20129.hp1 |
synonymous_variant | LOW | c.2049C>T | p.Thr683Thr | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 13/13 | 2242/2344 | 2049/2076 | 683/691 | chr15 | 43197329 | |||
| chr15:43197413 | C | T | 1 | a0001c0008 | 1 | NA18906.hp1 | synonymous_variant | LOW | c.1965G>A | p.Thr655Thr | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 13/13 | 2158/2344 | 1965/2076 | 655/691 | chr15 | 43197413 | |||
| chr15:43207233 | G | A | 1 | a0001c0004 | 2 | HG02055.hp1 NA20129.hp1 |
synonymous_variant | LOW | c.1284C>T | p.Cys428Cys | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/13 | 1477/2344 | 1284/2076 | 428/691 | chr15 | 43207233 | |||
| chr15:43209362 | G | A | 1 | a0001c0005 | 2 | HG01168.hp1 HG01169.hp2 |
synonymous_variant | LOW | c.744C>T | p.Ser248Ser | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/13 | 937/2344 | 744/2076 | 248/691 | chr15 | 43209362 | |||
| chr15:43215195 | C | T | 2 | a0001c0002 a0001c0004 |
17 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(14): Show |
synonymous_variant | LOW | c.330G>A | p.Ala110Ala | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/13 | 523/2344 | 330/2076 | 110/691 | chr15 | 43215195 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:43197291 | G | C | 1 | a0001c0001t0003 | 1 | HG02300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*11C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 13/13 | 11 | chr15 | 43197291 | ||||||
| chr15:43220876 | A | G | 4 | a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(1): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-51T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/13 | 51 | chr15 | 43220876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:43197503 | G | C | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1914-39C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43197503 | |||||||
| chr15:43197558 | G | T | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1914-94C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43197558 | |||||||
| chr15:43197599 | TG | T | 4 | a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show |
6 | HG00642.hp2 HG02615.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.1914-136delC | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43197599 | |||||||
| chr15:43197636 | C | G | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1914-172G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43197636 | |||||||
| chr15:43197902 | C | T | 1 | a0001c0001t0001g0088 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1914-438G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43197902 | |||||||
| chr15:43198106 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1914-642C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43198106 | |||||||
| chr15:43198138 | G | A | 2 | a0001c0001t0001g0097 a0001c0001t0001g0098 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1914-674C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43198138 | |||||||
| chr15:43198167 | C | T | 1 | a0003c0007t0001g0041 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1914-703G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43198167 | |||||||
| chr15:43198544 | T | C | 2 | a0001c0001t0001g0053 a0001c0001t0001g0054 |
2 | NA18986.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.1914-1080A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43198544 | |||||||
| chr15:43198912 | G | C | 17 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(14): Show |
38 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(35): Show |
intron_variant | MODIFIER | c.1914-1448C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43198912 | |||||||
| chr15:43199164 | G | A | 1 | a0001c0002t0002g0038 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1914-1700C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43199164 | |||||||
| chr15:43199180 | C | T | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1914-1716G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43199180 | |||||||
| chr15:43199230 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0001g0117 |
10 | HG00408.hp1 HG02027.hp2 NA18967.hp2 others(7): Show |
intron_variant | MODIFIER | c.1914-1766T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43199230 | |||||||
| chr15:43199423 | A | G | 2 | a0001c0001t0001g0097 a0001c0001t0001g0098 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1914-1959T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43199423 | |||||||
| chr15:43200023 | A | G | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1913+1821T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200023 | |||||||
| chr15:43200460 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1913+1384G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200460 | |||||||
| chr15:43200543 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1913+1301C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200543 | |||||||
| chr15:43200817 | A | AT | 108 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(105): Show |
275 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(272): Show |
intron_variant | MODIFIER | c.1913+1026dupA | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200817 | |||||||
| chr15:43200817 | A | ATT | 6 | a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0084 others(3): Show |
8 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.1913+1025_1913+102 others(6): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200817 | |||||||
| chr15:43200916 | A | G | 17 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(14): Show |
38 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(35): Show |
intron_variant | MODIFIER | c.1913+928T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43200916 | |||||||
| chr15:43201048 | C | T | 1 | a0001c0001t0001g0022 | 2 | HG01106.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1913+796G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201048 | |||||||
| chr15:43201073 | C | T | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1913+771G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201073 | |||||||
| chr15:43201395 | G | A | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1913+449C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201395 | |||||||
| chr15:43201471 | G | A | 1 | a0001c0001t0001g0118 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1913+373C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201471 | |||||||
| chr15:43201678 | G | C | 1 | a0001c0001t0001g0070 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1913+166C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201678 | |||||||
| chr15:43201761 | C | G | 1 | a0001c0001t0001g0087 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1913+83G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 12/12 | chr15 | 43201761 | |||||||
| chr15:43202091 | ACT | A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(12): Show |
36 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(33): Show |
intron_variant | MODIFIER | c.1780-116_1780-115d others(4): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202091 | |||||||
| chr15:43202135 | T | G | 1 | a0001c0001t0001g0106 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1780-158A>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202135 | |||||||
| chr15:43202331 | G | A | 1 | a0001c0001t0002g0030 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1780-354C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202331 | |||||||
| chr15:43202336 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1780-359C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202336 | |||||||
| chr15:43202359 | G | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(88): Show |
219 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.1780-382C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202359 | |||||||
| chr15:43202533 | T | C | 15 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(12): Show |
36 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(33): Show |
intron_variant | MODIFIER | c.1780-556A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202533 | |||||||
| chr15:43202618 | C | A | 91 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(88): Show |
219 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.1779+497G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202618 | |||||||
| chr15:43202821 | G | T | 1 | a0001c0001t0001g0094 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1779+294C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202821 | |||||||
| chr15:43202898 | A | G | 1 | a0001c0001t0001g0099 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1779+217T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202898 | |||||||
| chr15:43202908 | C | T | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1779+207G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202908 | |||||||
| chr15:43202914 | C | T | 1 | a0001c0001t0001g0046 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1779+201G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202914 | |||||||
| chr15:43202924 | G | T | 15 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(12): Show |
36 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(33): Show |
intron_variant | MODIFIER | c.1779+191C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202924 | |||||||
| chr15:43202969 | T | A | 1 | a0001c0001t0001g0016 | 3 | HG02809.hp1 HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1779+146A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43202969 | |||||||
| chr15:43203014 | T | C | 20 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0051 others(17): Show |
43 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(40): Show |
intron_variant | MODIFIER | c.1779+101A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43203014 | |||||||
| chr15:43203025 | T | C | 1 | a0001c0001t0001g0064 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1779+90A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 11/12 | chr15 | 43203025 | |||||||
| chr15:43203539 | T | A | 5 | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show |
7 | HG02615.hp1 HG02970.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1619-264A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203539 | |||||||
| chr15:43203542 | G | A | 4 | a0001c0001t0001g0099 a0002c0003t0001g0028 a0002c0003t0001g0100 others(1): Show |
5 | HG01981.hp1 HG02109.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1619-267C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203542 | |||||||
| chr15:43203598 | T | C | 2 | a0001c0001t0001g0109 a0001c0001t0001g0114 |
2 | HG02698.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1619-323A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203598 | |||||||
| chr15:43203700 | C | A | 1 | a0001c0001t0001g0047 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1619-425G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203700 | |||||||
| chr15:43203702 | T | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(88): Show |
219 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.1619-427A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203702 | |||||||
| chr15:43203819 | A | G | 1 | a0001c0001t0001g0091 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1619-544T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203819 | |||||||
| chr15:43203844 | A | T | 90 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(87): Show |
218 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.1619-569T>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43203844 | |||||||
| chr15:43204073 | C | T | 1 | a0001c0001t0001g0065 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1619-798G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204073 | |||||||
| chr15:43204096 | A | T | 1 | a0001c0001t0001g0021 | 2 | HG00438.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.1619-821T>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204096 | |||||||
| chr15:43204135 | G | A | 1 | a0003c0010t0001g0112 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1619-860C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204135 | |||||||
| chr15:43204320 | G | A | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1619-1045C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204320 | |||||||
| chr15:43204367 | A | G | 1 | a0001c0001t0002g0034 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1619-1092T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204367 | |||||||
| chr15:43204514 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1619-1239A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204514 | |||||||
| chr15:43204647 | C | T | 2 | a0001c0001t0001g0020 a0001c0001t0001g0071 |
3 | HG00544.hp1 HG02027.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1619-1372G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204647 | |||||||
| chr15:43204964 | G | GC | 64 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(61): Show |
174 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(171): Show |
intron_variant | MODIFIER | c.1618+1365dupG | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204964 | |||||||
| chr15:43204964 | G | GCC | 11 | a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0059 others(8): Show |
20 | HG00423.hp2 HG00621.hp2 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.1618+1364_1618+136 others(6): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204964 | |||||||
| chr15:43204968 | C | CG | 1 | a0001c0002t0002g0008 | 6 | HG00621.hp1 HG02129.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.1618+1361_1618+136 others(5): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204968 | |||||||
| chr15:43204974 | C | A | 2 | a0001c0002t0002g0008 a0001c0004t0002g0017 |
8 | HG00621.hp1 HG02055.hp1 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.1618+1356G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204974 | |||||||
| chr15:43204974 | C | CA | 8 | a0001c0002t0002g0018 a0001c0002t0002g0031 a0001c0002t0002g0032 others(5): Show |
9 | HG01891.hp2 HG02486.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.1618+1355dupT | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43204974 | |||||||
| chr15:43205270 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1618+1060C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205270 | |||||||
| chr15:43205284 | G | A | 1 | a0001c0001t0001g0023 | 2 | HG02602.hp1 HG03491.hp1 |
intron_variant | MODIFIER | c.1618+1046C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205284 | |||||||
| chr15:43205303 | T | C | 1 | a0001c0001t0001g0110 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1618+1027A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205303 | |||||||
| chr15:43205363 | A | G | 1 | a0001c0001t0001g0104 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1618+967T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205363 | |||||||
| chr15:43205821 | T | C | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1618+509A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205821 | |||||||
| chr15:43205922 | C | T | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.1618+408G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43205922 | |||||||
| chr15:43206015 | G | C | 1 | a0001c0001t0001g0094 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1618+315C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43206015 | |||||||
| chr15:43206083 | C | G | 1 | a0001c0001t0001g0103 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1618+247G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43206083 | |||||||
| chr15:43206161 | A | G | 2 | a0001c0001t0002g0030 a0001c0001t0002g0034 |
2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1618+169T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43206161 | |||||||
| chr15:43206281 | A | G | 1 | a0001c0002t0002g0036 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1618+49T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 10/12 | chr15 | 43206281 | |||||||
| chr15:43206678 | T | C | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.1319-49A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/12 | chr15 | 43206678 | |||||||
| chr15:43206899 | G | A | 1 | a0001c0001t0001g0072 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1319-270C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/12 | chr15 | 43206899 | |||||||
| chr15:43207156 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1318+43C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/12 | chr15 | 43207156 | |||||||
| chr15:43207195 | G | A | 1 | a0001c0001t0001g0011 | 3 | HG01167.hp2 HG01169.hp1 HG01192.hp2 |
splice_region_variant&intron_variant | LOW | c.1318+4C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 9/12 | chr15 | 43207195 | |||||||
| chr15:43207546 | C | T | 1 | a0001c0001t0001g0064 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1076-105G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43207546 | |||||||
| chr15:43207560 | A | G | 4 | a0001c0001t0001g0099 a0002c0003t0001g0028 a0002c0003t0001g0100 others(1): Show |
5 | HG01981.hp1 HG02109.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1076-119T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43207560 | |||||||
| chr15:43207893 | G | A | 1 | a0001c0001t0001g0111 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1075+337C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43207893 | |||||||
| chr15:43207928 | T | C | 2 | a0001c0001t0002g0030 a0001c0001t0002g0034 |
2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1075+302A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43207928 | |||||||
| chr15:43208103 | T | A | 3 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0008t0002g0029 |
3 | HG02280.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1075+127A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43208103 | |||||||
| chr15:43208206 | C | T | 1 | a0001c0001t0001g0063 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1075+24G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 8/12 | chr15 | 43208206 | |||||||
| chr15:43208523 | G | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(1): Show |
6 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.971+114C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 7/12 | chr15 | 43208523 | |||||||
| chr15:43208555 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.971+82C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 7/12 | chr15 | 43208555 | |||||||
| chr15:43208779 | T | C | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
splice_region_variant&intron_variant | LOW | c.833-4A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/12 | chr15 | 43208779 | |||||||
| chr15:43208869 | T | C | 10 | a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0031 others(7): Show |
17 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.833-94A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/12 | chr15 | 43208869 | |||||||
| chr15:43209044 | G | A | 1 | a0001c0002t0002g0033 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.832+230C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/12 | chr15 | 43209044 | |||||||
| chr15:43209172 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.832+102G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/12 | chr15 | 43209172 | |||||||
| chr15:43209242 | C | G | 2 | a0001c0001t0001g0019 a0001c0001t0001g0076 |
3 | NA18952.hp2 NA19000.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.832+32G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 6/12 | chr15 | 43209242 | |||||||
| chr15:43209644 | G | A | 3 | a0002c0003t0001g0028 a0002c0003t0001g0100 a0002c0003t0001g0101 |
4 | HG02109.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.655-193C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209644 | |||||||
| chr15:43209734 | C | T | 1 | a0001c0001t0001g0050 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.655-283G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209734 | |||||||
| chr15:43209760 | G | A | 2 | a0001c0002t0002g0032 a0001c0002t0002g0033 |
2 | HG01891.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.655-309C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209760 | |||||||
| chr15:43209823 | G | T | 1 | a0001c0001t0003g0043 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.655-372C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209823 | |||||||
| chr15:43209859 | T | C | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.655-408A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209859 | |||||||
| chr15:43209866 | G | A | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.655-415C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209866 | |||||||
| chr15:43209880 | G | A | 4 | a0001c0001t0001g0099 a0002c0003t0001g0028 a0002c0003t0001g0100 others(1): Show |
5 | HG01981.hp1 HG02109.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.655-429C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209880 | |||||||
| chr15:43209888 | A | C | 1 | a0001c0001t0001g0117 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.655-437T>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209888 | |||||||
| chr15:43209898 | T | C | 12 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(9): Show |
19 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.654+437A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43209898 | |||||||
| chr15:43210104 | C | T | 73 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
192 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(189): Show |
intron_variant | MODIFIER | c.654+231G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43210104 | |||||||
| chr15:43210189 | C | T | 3 | a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0083 |
3 | HG00621.hp2 HG02165.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.654+146G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 5/12 | chr15 | 43210189 | |||||||
| chr15:43210560 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.550-121C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210560 | |||||||
| chr15:43210584 | C | G | 1 | a0001c0001t0001g0087 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.550-145G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210584 | |||||||
| chr15:43210622 | T | G | 1 | a0003c0010t0001g0112 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.550-183A>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210622 | |||||||
| chr15:43210670 | A | G | 2 | a0001c0001t0001g0006 a0001c0001t0001g0079 |
8 | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(5): Show |
intron_variant | MODIFIER | c.550-231T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210670 | |||||||
| chr15:43210807 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.550-368G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210807 | |||||||
| chr15:43210821 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.550-382A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210821 | |||||||
| chr15:43210860 | G | A | 1 | a0003c0010t0001g0112 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.550-421C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210860 | |||||||
| chr15:43210982 | A | G | 3 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0008t0002g0029 |
3 | HG02280.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.549+434T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43210982 | |||||||
| chr15:43211014 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.549+402C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43211014 | |||||||
| chr15:43211130 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.549+286C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43211130 | |||||||
| chr15:43211138 | C | A | 2 | a0001c0001t0001g0075 a0001c0001t0001g0080 |
2 | HG01975.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.549+278G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43211138 | |||||||
| chr15:43211244 | G | A | 1 | a0001c0001t0001g0094 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.549+172C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 4/12 | chr15 | 43211244 | |||||||
| chr15:43211592 | T | C | 1 | a0001c0001t0002g0034 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.431-58A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43211592 | |||||||
| chr15:43211606 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.431-72G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43211606 | |||||||
| chr15:43211969 | G | A | 1 | a0001c0001t0001g0076 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.431-435C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43211969 | |||||||
| chr15:43212040 | C | G | 1 | a0001c0001t0001g0059 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.431-506G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212040 | |||||||
| chr15:43212137 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.431-603C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212137 | |||||||
| chr15:43212139 | G | A | 3 | a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0098 |
5 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.431-605C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212139 | |||||||
| chr15:43212180 | C | T | 1 | a0001c0002t0002g0031 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.431-646G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212180 | |||||||
| chr15:43212240 | G | A | 1 | a0001c0002t0002g0008 | 6 | HG00621.hp1 HG02129.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.431-706C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212240 | |||||||
| chr15:43212266 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0001g0048 |
2 | HG03225.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.431-732C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212266 | |||||||
| chr15:43212285 | C | G | 1 | a0001c0001t0001g0094 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.431-751G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212285 | |||||||
| chr15:43212369 | CA | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
222 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(219): Show |
intron_variant | MODIFIER | c.431-836delT | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212369 | |||||||
| chr15:43212394 | G | GA | 4 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(1): Show |
6 | HG02145.hp1 HG02809.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.431-861dupT | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212394 | |||||||
| chr15:43212394 | G | GAA | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.431-862_431-861dup others(2): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212394 | |||||||
| chr15:43212542 | CAATT | C | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.431-1012_431-1009d others(6): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212542 | |||||||
| chr15:43212966 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.431-1432C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43212966 | |||||||
| chr15:43213055 | G | T | 1 | a0001c0001t0001g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.431-1521C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213055 | |||||||
| chr15:43213390 | C | T | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.430+1705G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213390 | |||||||
| chr15:43213484 | G | A | 1 | a0001c0001t0002g0030 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.430+1611C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213484 | |||||||
| chr15:43213593 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.430+1502G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213593 | |||||||
| chr15:43213695 | A | G | 18 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(15): Show |
39 | HG00423.hp1 HG00621.hp1 HG01891.hp2 others(36): Show |
intron_variant | MODIFIER | c.430+1400T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213695 | |||||||
| chr15:43213716 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0081 |
3 | HG02258.hp2 HG02895.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.430+1379G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213716 | |||||||
| chr15:43213802 | G | A | 1 | a0001c0001t0001g0089 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.430+1293C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213802 | |||||||
| chr15:43213861 | G | C | 1 | a0001c0001t0002g0030 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.430+1234C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213861 | |||||||
| chr15:43213867 | C | T | 1 | a0001c0001t0001g0057 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.430+1228G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213867 | |||||||
| chr15:43213954 | T | C | 1 | a0001c0001t0001g0078 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.430+1141A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213954 | |||||||
| chr15:43213957 | G | A | 4 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(1): Show |
18 | HG00423.hp1 NA18941.hp2 NA18949.hp1 others(15): Show |
intron_variant | MODIFIER | c.430+1138C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43213957 | |||||||
| chr15:43214114 | G | A | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.430+981C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214114 | |||||||
| chr15:43214174 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.430+921C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214174 | |||||||
| chr15:43214313 | G | A | 1 | a0001c0002t0002g0018 | 2 | HG02922.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.430+782C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214313 | |||||||
| chr15:43214376 | C | T | 1 | a0001c0001t0001g0087 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.430+719G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214376 | |||||||
| chr15:43214620 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.430+475C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214620 | |||||||
| chr15:43214713 | G | C | 1 | a0001c0001t0001g0115 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.430+382C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3/12 | chr15 | 43214713 | |||||||
| chr15:43215337 | A | G | 1 | a0001c0001t0001g0055 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.197-9T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215337 | |||||||
| chr15:43215502 | T | C | 1 | a0001c0001t0001g0116 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.197-174A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215502 | |||||||
| chr15:43215512 | T | C | 1 | a0001c0001t0001g0079 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.197-184A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215512 | |||||||
| chr15:43215607 | G | GGC | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.197-280_197-279ins others(2): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215607 | |||||||
| chr15:43215609 | A | C | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.197-281T>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215609 | |||||||
| chr15:43215610 | T | A | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.197-282A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215610 | |||||||
| chr15:43215768 | C | T | 4 | a0001c0001t0001g0099 a0002c0003t0001g0028 a0002c0003t0001g0100 others(1): Show |
5 | HG01981.hp1 HG02109.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.197-440G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215768 | |||||||
| chr15:43215876 | G | T | 3 | a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 |
3 | HG01891.hp2 HG02622.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.196+392C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215876 | |||||||
| chr15:43215880 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.196+388G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215880 | |||||||
| chr15:43215893 | C | T | 17 | a0001c0001t0001g0016 a0001c0001t0001g0094 a0001c0001t0001g0097 others(14): Show |
26 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.196+375G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215893 | |||||||
| chr15:43215955 | G | A | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.196+313C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43215955 | |||||||
| chr15:43216009 | C | T | 4 | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0053 others(1): Show |
18 | HG00423.hp1 NA18941.hp2 NA18949.hp1 others(15): Show |
intron_variant | MODIFIER | c.196+259G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43216009 | |||||||
| chr15:43216156 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0117 |
9 | HG00408.hp1 HG02027.hp2 NA18967.hp2 others(6): Show |
intron_variant | MODIFIER | c.196+112G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 2/12 | chr15 | 43216156 | |||||||
| chr15:43216509 | C | T | 2 | a0001c0001t0001g0027 a0001c0001t0001g0096 |
3 | NA18998.hp2 NA19068.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.11-56G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43216509 | |||||||
| chr15:43216532 | G | C | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.11-79C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43216532 | |||||||
| chr15:43216657 | G | T | 1 | a0001c0001t0001g0052 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.11-204C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43216657 | |||||||
| chr15:43217033 | C | T | 1 | a0001c0002t0002g0036 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.11-580G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217033 | |||||||
| chr15:43217116 | C | T | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.11-663G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217116 | |||||||
| chr15:43217136 | G | A | 1 | a0001c0001t0001g0080 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.11-683C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217136 | |||||||
| chr15:43217220 | A | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-767T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217220 | |||||||
| chr15:43217226 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-773C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217226 | |||||||
| chr15:43217227 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-774G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217227 | |||||||
| chr15:43217228 | T | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-775A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217228 | |||||||
| chr15:43217229 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-776A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217229 | |||||||
| chr15:43217230 | G | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-777C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217230 | |||||||
| chr15:43217231 | T | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-778A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217231 | |||||||
| chr15:43217238 | G | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-785C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217238 | |||||||
| chr15:43217239 | T | C | 1 | a0001c0001t0001g0081 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.11-786A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217239 | |||||||
| chr15:43217247 | A | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-794T>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217247 | |||||||
| chr15:43217250 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-797A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217250 | |||||||
| chr15:43217252 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-799G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217252 | |||||||
| chr15:43217254 | C | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-801G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217254 | |||||||
| chr15:43217255 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-802G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217255 | |||||||
| chr15:43217257 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-804A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217257 | |||||||
| chr15:43217260 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-807G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217260 | |||||||
| chr15:43217262 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-809G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217262 | |||||||
| chr15:43217263 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-810A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217263 | |||||||
| chr15:43217264 | CTCTCTCT others(3): Show |
C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-821_11-812delAA others(8): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217264 | |||||||
| chr15:43217283 | GCCATGTG others(11): Show |
G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-848_11-831delAA others(16): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217283 | |||||||
| chr15:43217304 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-851A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217304 | |||||||
| chr15:43217308 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-855G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217308 | |||||||
| chr15:43217312 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-859G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217312 | |||||||
| chr15:43217316 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-863A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217316 | |||||||
| chr15:43217318 | C | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-865G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217318 | |||||||
| chr15:43217319 | T | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-866A>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217319 | |||||||
| chr15:43217329 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-876C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217329 | |||||||
| chr15:43217330 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-877A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217330 | |||||||
| chr15:43217333 | G | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-880C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217333 | |||||||
| chr15:43217335 | T | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-882A>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217335 | |||||||
| chr15:43217336 | T | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-883A>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217336 | |||||||
| chr15:43217342 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-889C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217342 | |||||||
| chr15:43217343 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-890C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217343 | |||||||
| chr15:43217344 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-891G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217344 | |||||||
| chr15:43217345 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-892G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217345 | |||||||
| chr15:43217347 | C | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-894G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217347 | |||||||
| chr15:43217348 | C | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-895G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217348 | |||||||
| chr15:43217350 | C | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-897G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217350 | |||||||
| chr15:43217351 | A | G | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-898T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217351 | |||||||
| chr15:43217355 | G | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-902C>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217355 | |||||||
| chr15:43217357 | A | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-904T>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217357 | |||||||
| chr15:43217358 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-905C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217358 | |||||||
| chr15:43217362 | C | CCCAAACC others(38): Show |
1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-910_11-909insTC others(43): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217362 | |||||||
| chr15:43217363 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-910A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217363 | |||||||
| chr15:43217374 | G | A | 3 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0008t0002g0029 |
3 | HG02280.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.11-921C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217374 | |||||||
| chr15:43217375 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-922G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217375 | |||||||
| chr15:43217377 | G | A | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-924C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217377 | |||||||
| chr15:43217378 | A | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-925T>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217378 | |||||||
| chr15:43217382 | A | T | 1 | a0001c0001t0001g0051 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.11-929T>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217382 | |||||||
| chr15:43217538 | G | GA | 111 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(108): Show |
278 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(275): Show |
intron_variant | MODIFIER | c.11-1086dupT | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217538 | |||||||
| chr15:43217677 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.11-1224G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217677 | |||||||
| chr15:43217782 | C | T | 2 | a0001c0001t0001g0044 a0001c0001t0003g0043 |
2 | HG01433.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.11-1329G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217782 | |||||||
| chr15:43217827 | A | G | 48 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(45): Show |
99 | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.11-1374T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217827 | |||||||
| chr15:43217918 | A | G | 1 | a0001c0001t0001g0094 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.11-1465T>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43217918 | |||||||
| chr15:43218179 | C | T | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.11-1726G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218179 | |||||||
| chr15:43218249 | G | A | 1 | a0001c0001t0001g0118 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.11-1796C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218249 | |||||||
| chr15:43218281 | G | A | 1 | a0001c0005t0001g0024 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.11-1828C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218281 | |||||||
| chr15:43218301 | T | C | 1 | a0001c0001t0001g0015 | 3 | NA18612.hp1 NA18954.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.11-1848A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218301 | |||||||
| chr15:43218315 | C | A | 2 | a0001c0001t0001g0090 a0001c0001t0001g0091 |
2 | HG02698.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.11-1862G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218315 | |||||||
| chr15:43218605 | T | C | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.11-2152A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218605 | |||||||
| chr15:43218646 | G | A | 1 | a0001c0002t0002g0038 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.10+2170C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218646 | |||||||
| chr15:43218982 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.10+1834G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43218982 | |||||||
| chr15:43219073 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0081 |
3 | HG02258.hp2 HG02895.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.10+1743G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219073 | |||||||
| chr15:43219132 | C | T | 1 | a0001c0001t0002g0030 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.10+1684G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219132 | |||||||
| chr15:43219252 | C | A | 1 | a0001c0001t0002g0034 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.10+1564G>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219252 | |||||||
| chr15:43219340 | T | C | 2 | a0001c0001t0001g0025 a0001c0001t0001g0081 |
3 | HG02258.hp2 HG02895.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.10+1476A>G | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219340 | |||||||
| chr15:43219729 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.10+1087C>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219729 | |||||||
| chr15:43219944 | A | T | 3 | a0001c0001t0001g0026 a0001c0001t0001g0085 a0001c0001t0001g0086 |
4 | NA18981.hp1 NA18990.hp2 NA19055.hp2 others(1): Show |
intron_variant | MODIFIER | c.10+872T>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43219944 | |||||||
| chr15:43220080 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | HG00621.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.10+736C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220080 | |||||||
| chr15:43220212 | C | T | 2 | a0001c0001t0001g0092 a0001c0001t0001g0093 |
2 | HG00544.hp2 NA18963.hp2 |
intron_variant | MODIFIER | c.10+604G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220212 | |||||||
| chr15:43220339 | C | T | 1 | a0001c0001t0001g0084 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10+477G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220339 | |||||||
| chr15:43220361 | G | A | 1 | a0001c0001t0001g0016 | 3 | HG02809.hp1 HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.10+455C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220361 | |||||||
| chr15:43220406 | G | A | 10 | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0084 others(7): Show |
17 | HG01433.hp1 HG01884.hp1 HG02698.hp2 others(14): Show |
intron_variant | MODIFIER | c.10+410C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220406 | |||||||
| chr15:43220566 | C | T | 1 | a0001c0008t0002g0029 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.10+250G>A | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220566 | |||||||
| chr15:43220586 | C | G | 13 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show |
20 | HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.10+230G>C | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220586 | |||||||
| chr15:43220649 | AC | A | 47 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(44): Show |
98 | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.10+166delG | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220649 | |||||||
| chr15:43220681 | GTACCCCC others(16): Show |
G | 1 | a0001c0002t0002g0035 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.10+112_10+134delTA others(21): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220681 | |||||||
| chr15:43220797 | G | A | 6 | a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0035 others(3): Show |
12 | HG00621.hp1 HG02129.hp1 HG02132.hp1 others(9): Show |
intron_variant | MODIFIER | c.10+19C>T | EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 1/12 | chr15 | 43220797 |