Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 57669 |
| ensemblid | ENSG00000115109.14 |
| hgncid | 19819 |
| symbol | EPB41L5 |
| name | erythrocyte membrane protein band 4.1 like 5 |
| refseq_nuc | NM_020909.4 |
| refseq_prot | NP_065960.2 |
| ensembl_nuc | ENST00000263713.10 |
| ensembl_prot | ENSP00000263713.5 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 120013077 |
| end | 120179119 |
| strand | + |
| ver | v1.2 |
| region | chr2:120013077-120179119 |
| region5000 | chr2:120008077-120184119 |
| regionname0 | EPB41L5_chr2_120013077_120179119 |
| regionname5000 | EPB41L5_chr2_120008077_120184119 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 733 | 141 | 45 | 27 | 54 | 2 | 12 | 47 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| a0002 | 0/1 | 733 | 132 | 30 | 28 | 59 | 2 | 12 | 47 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| a0003 | 0/0 | 733 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| a0004 | 0/0 | 733 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| a0005 | 0/0 | 733 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| a0006 | 0/0 | 733 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | MLSFF others(728): Show |
chr2 | 120008077 | 120184119 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 2199 | 141 | 45 | 27 | 54 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0002c0002 | 0/1 | 2199 | 131 | 30 | 28 | 58 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0002c0004 | 0/0 | 2199 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0003c0003 | 0/0 | 2199 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0004c0006 | 0/0 | 2199 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0005c0005 | 0/0 | 2199 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 | ||
| a0006c0007 | 0/0 | 2199 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | ATGCT others(2194): Show |
chr2 | 120008077 | 120184119 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 1/0 | 6556 | 83 | 19 | 18 | 32 | 2 | 11 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0003 | 0/0 | 6556 | 18 | 0 | 1 | 17 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0004 | 0/0 | 6558 | 10 | 7 | 3 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6553): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0005 | 0/0 | 6558 | 10 | 5 | 4 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6553): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0006 | 0/0 | 6557 | 7 | 6 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6552): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0007 | 0/0 | 6556 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0008 | 0/0 | 6558 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6553): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0009 | 0/0 | 6558 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6553): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0011 | 0/0 | 6599 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6594): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0012 | 0/0 | 6555 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6550): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0013 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0015 | 0/0 | 6513 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6508): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0016 | 0/0 | 6558 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6553): Show |
chr2 | 120008077 | 120184119 |
| a0001c0001t0017 | 0/0 | 6557 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6552): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0001 | 0/1 | 6556 | 121 | 27 | 26 | 56 | 2 | 9 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0010 | 0/0 | 6556 | 2 | 1 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0018 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0019 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0020 | 0/0 | 6513 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6508): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0021 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0022 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0023 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0024 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0002t0025 | 0/0 | 6556 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0002c0004t0001 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0003c0003t0006 | 0/0 | 6557 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6552): Show |
chr2 | 120008077 | 120184119 |
| a0004c0006t0014 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0005c0005t0002 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| a0006c0007t0001 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | GTCCT others(6551): Show |
chr2 | 120008077 | 120184119 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0134 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0008g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0008g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0009g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0009g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0011g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0012g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0013g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0015g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0016g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0017g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0191 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0010g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0010g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0018g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0019g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0020g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0021g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0022g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0023g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0024g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0025g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0004t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0003c0003t0006g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0003c0003t0006g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0004c0006t0014g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0005c0005t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0006c0007t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0181 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00408 | hp2 | a0002 | c0002 | t0001 | g0266 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00423 | hp1 | a0002 | c0002 | t0001 | g0256 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00423 | hp2 | a0001 | c0001 | t0011 | g0026 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00544 | hp1 | a0002 | c0002 | t0001 | g0149 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0016 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00609 | hp2 | a0002 | c0002 | t0022 | g0174 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00639 | hp1 | a0002 | c0002 | t0001 | g0158 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0008 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00735 | hp1 | a0001 | c0001 | t0006 | g0120 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00735 | hp2 | a0002 | c0002 | t0001 | g0141 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00738 | hp1 | a0001 | c0001 | t0004 | g0107 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0019 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00741 | hp1 | a0002 | c0002 | t0001 | g0170 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00741 | hp2 | a0001 | c0001 | t0004 | g0108 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01069 | hp1 | a0002 | c0002 | t0021 | g0161 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0054 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01070 | hp1 | a0002 | c0002 | t0001 | g0162 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01070 | hp2 | a0001 | c0001 | t0005 | g0150 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0056 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01071 | hp2 | a0001 | c0001 | t0005 | g0151 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01081 | hp1 | a0001 | c0001 | t0002 | g0033 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01081 | hp2 | a0002 | c0002 | t0023 | g0148 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0090 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01109 | hp2 | a0002 | c0002 | t0001 | g0144 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01167 | hp1 | a0002 | c0002 | t0001 | g0165 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0099 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0098 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01169 | hp2 | a0002 | c0002 | t0001 | g0179 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0094 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01175 | hp2 | a0002 | c0002 | t0001 | g0140 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0061 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01192 | hp2 | a0002 | c0002 | t0001 | g0272 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01243 | hp1 | a0002 | c0002 | t0001 | g0208 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01243 | hp2 | a0001 | c0001 | t0004 | g0130 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01255 | hp1 | a0002 | c0002 | t0001 | g0200 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01255 | hp2 | a0004 | c0006 | t0014 | g0111 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01257 | hp1 | a0002 | c0002 | t0001 | g0224 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01257 | hp2 | a0002 | c0002 | t0001 | g0252 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01261 | hp1 | a0002 | c0002 | t0001 | g0263 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01261 | hp2 | a0002 | c0002 | t0001 | g0201 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01346 | hp1 | a0001 | c0001 | t0005 | g0154 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01346 | hp2 | a0002 | c0002 | t0001 | g0260 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0018 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01358 | hp2 | a0002 | c0002 | t0001 | g0244 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0247 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0051 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01496 | hp1 | a0001 | c0001 | t0003 | g0080 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0194 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01516 | hp1 | a0002 | c0002 | t0001 | g0262 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0017 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01517 | hp1 | a0002 | c0002 | t0001 | g0199 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0101 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01884 | hp1 | a0002 | c0002 | t0001 | g0145 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01884 | hp2 | a0002 | c0002 | t0001 | g0136 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01891 | hp2 | a0002 | c0002 | t0001 | g0185 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01928 | hp1 | a0001 | c0001 | t0002 | g0030 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01928 | hp2 | a0002 | c0002 | t0001 | g0177 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01943 | hp1 | a0001 | c0001 | t0005 | g0153 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01943 | hp2 | a0001 | c0001 | t0002 | g0055 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0039 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01952 | hp2 | a0002 | c0002 | t0001 | g0190 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0031 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0250 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01978 | hp1 | a0002 | c0002 | t0001 | g0261 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0032 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01981 | hp1 | a0002 | c0002 | t0001 | g0227 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01981 | hp2 | a0002 | c0002 | t0001 | g0178 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02055 | hp1 | a0002 | c0002 | t0001 | g0202 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02083 | hp1 | a0002 | c0002 | t0001 | g0195 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02083 | hp2 | a0005 | c0005 | t0002 | g0052 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02129 | hp1 | a0002 | c0002 | t0001 | g0197 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02129 | hp2 | a0002 | c0002 | t0001 | g0212 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02132 | hp1 | a0002 | c0002 | t0001 | g0139 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02132 | hp2 | a0001 | c0001 | t0003 | g0083 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02135 | hp1 | a0002 | c0002 | t0001 | g0273 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0044 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02148 | hp1 | a0002 | c0002 | t0001 | g0171 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0034 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0062 | EAS | CDX | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02155 | hp2 | a0002 | c0002 | t0001 | g0192 | EAS | CDX | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0103 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02257 | hp2 | a0006 | c0007 | t0001 | g0270 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02280 | hp1 | a0002 | c0002 | t0010 | g0157 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02280 | hp2 | a0002 | c0002 | t0001 | g0215 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02451 | hp1 | a0001 | c0001 | t0002 | g0087 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0058 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02523 | hp2 | a0002 | c0002 | t0001 | g0228 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02572 | hp1 | a0001 | c0001 | t0004 | g0114 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0059 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02615 | hp1 | a0002 | c0002 | t0001 | g0206 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02615 | hp2 | a0001 | c0001 | t0017 | g0007 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02622 | hp1 | a0001 | c0001 | t0009 | g0138 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02622 | hp2 | a0002 | c0002 | t0001 | g0214 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02630 | hp1 | a0002 | c0002 | t0001 | g0216 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02630 | hp2 | a0001 | c0001 | t0006 | g0126 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02647 | hp1 | a0001 | c0001 | t0006 | g0127 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0060 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02683 | hp1 | a0001 | c0001 | t0002 | g0036 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02683 | hp2 | a0001 | c0001 | t0005 | g0152 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0057 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02698 | hp2 | a0002 | c0002 | t0001 | g0169 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02738 | hp1 | a0002 | c0002 | t0001 | g0164 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0063 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02809 | hp1 | a0001 | c0001 | t0004 | g0115 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02809 | hp2 | a0002 | c0002 | t0001 | g0168 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02818 | hp1 | a0002 | c0002 | t0001 | g0217 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02818 | hp2 | a0001 | c0001 | t0004 | g0131 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02886 | hp1 | a0001 | c0001 | t0004 | g0116 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02886 | hp2 | a0002 | c0002 | t0001 | g0167 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0118 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0015 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02896 | hp1 | a0001 | c0001 | t0006 | g0121 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02897 | hp1 | a0001 | c0001 | t0006 | g0122 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0014 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02922 | hp1 | a0001 | c0001 | t0005 | g0005 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0095 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0218 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02976 | hp2 | a0001 | c0001 | t0012 | g0124 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0159 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0029 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0271 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0089 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0276 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03098 | hp2 | a0001 | c0001 | t0006 | g0128 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03139 | hp1 | a0003 | c0003 | t0006 | g0125 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03195 | hp1 | a0001 | c0001 | t0015 | g0274 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0183 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03209 | hp1 | a0001 | c0001 | t0008 | g0135 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03209 | hp2 | a0002 | c0002 | t0001 | g0219 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03225 | hp1 | a0002 | c0002 | t0001 | g0193 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03225 | hp2 | a0001 | c0001 | t0006 | g0129 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0035 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03239 | hp2 | a0002 | c0002 | t0001 | g0180 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03453 | hp1 | a0002 | c0002 | t0018 | g0207 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03453 | hp2 | a0001 | c0001 | t0005 | g0003 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0132 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03486 | hp2 | a0002 | c0002 | t0001 | g0213 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0113 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03516 | hp2 | a0002 | c0002 | t0001 | g0267 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03540 | hp1 | a0001 | c0001 | t0008 | g0133 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03540 | hp2 | a0003 | c0003 | t0006 | g0123 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03579 | hp1 | a0001 | c0001 | t0005 | g0006 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03579 | hp2 | a0002 | c0002 | t0001 | g0163 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0166 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0050 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0037 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03831 | hp2 | a0002 | c0002 | t0020 | g0112 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0198 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0043 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0049 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03942 | hp2 | a0002 | c0002 | t0010 | g0160 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0146 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04115 | hp2 | a0002 | c0002 | t0025 | g0142 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0048 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0237 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0100 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18942 | hp2 | a0002 | c0002 | t0001 | g0234 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0255 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18946 | hp1 | a0002 | c0002 | t0001 | g0222 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0028 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18947 | hp1 | a0001 | c0001 | t0003 | g0082 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18947 | hp2 | a0002 | c0002 | t0001 | g0242 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18948 | hp1 | a0002 | c0002 | t0001 | g0220 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0238 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18949 | hp2 | a0001 | c0001 | t0003 | g0072 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18950 | hp1 | a0002 | c0002 | t0001 | g0248 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0024 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0045 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18954 | hp2 | a0002 | c0002 | t0001 | g0275 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18957 | hp1 | a0001 | c0001 | t0003 | g0076 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18957 | hp2 | a0002 | c0002 | t0001 | g0240 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18959 | hp1 | a0002 | c0002 | t0001 | g0205 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0091 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18960 | hp1 | a0001 | c0001 | t0007 | g0074 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18960 | hp2 | a0002 | c0002 | t0001 | g0231 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18965 | hp1 | a0002 | c0002 | t0001 | g0258 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18965 | hp2 | a0001 | c0001 | t0003 | g0081 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18967 | hp1 | a0002 | c0004 | t0001 | g0189 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18967 | hp2 | a0001 | c0001 | t0002 | g0278 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18968 | hp1 | a0002 | c0002 | t0001 | g0259 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18968 | hp2 | a0001 | c0001 | t0002 | g0277 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18969 | hp1 | a0002 | c0002 | t0001 | g0245 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18969 | hp2 | a0001 | c0001 | t0003 | g0096 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18970 | hp1 | a0002 | c0002 | t0001 | g0265 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18970 | hp2 | a0001 | c0001 | t0003 | g0071 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18972 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18972 | hp2 | a0002 | c0002 | t0001 | g0226 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18977 | hp1 | a0002 | c0002 | t0001 | g0243 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0196 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18979 | hp2 | a0001 | c0001 | t0002 | g0025 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0249 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18983 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0268 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18991 | hp1 | a0001 | c0001 | t0003 | g0069 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18991 | hp2 | a0002 | c0002 | t0001 | g0225 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18993 | hp1 | a0002 | c0002 | t0001 | g0233 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18993 | hp2 | a0001 | c0001 | t0002 | g0064 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18995 | hp1 | a0001 | c0001 | t0002 | g0040 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18995 | hp2 | a0002 | c0002 | t0001 | g0239 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18998 | hp1 | a0001 | c0001 | t0003 | g0084 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18998 | hp2 | a0002 | c0002 | t0019 | g0203 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18999 | hp1 | a0002 | c0002 | t0001 | g0173 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0021 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0176 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0067 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19001 | hp1 | a0002 | c0002 | t0001 | g0223 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19001 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19004 | hp1 | a0002 | c0002 | t0001 | g0246 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0085 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19005 | hp1 | a0002 | c0002 | t0001 | g0264 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19005 | hp2 | a0001 | c0001 | t0003 | g0075 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19007 | hp1 | a0002 | c0002 | t0001 | g0204 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19007 | hp2 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0188 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19010 | hp2 | a0001 | c0001 | t0003 | g0068 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19030 | hp1 | a0002 | c0002 | t0001 | g0210 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19030 | hp2 | a0002 | c0002 | t0001 | g0186 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0047 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0172 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0042 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0235 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19062 | hp1 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19062 | hp2 | a0002 | c0002 | t0001 | g0254 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19064 | hp1 | a0002 | c0002 | t0001 | g0241 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19064 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0253 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19066 | hp2 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0269 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19074 | hp2 | a0001 | c0001 | t0002 | g0027 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19077 | hp1 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19077 | hp2 | a0002 | c0002 | t0001 | g0221 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19080 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19080 | hp2 | a0002 | c0002 | t0001 | g0229 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19082 | hp1 | a0001 | c0001 | t0007 | g0078 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19082 | hp2 | a0002 | c0002 | t0001 | g0230 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19083 | hp1 | a0002 | c0002 | t0001 | g0147 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19083 | hp2 | a0001 | c0001 | t0007 | g0073 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19084 | hp1 | a0002 | c0002 | t0001 | g0156 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19084 | hp2 | a0001 | c0001 | t0002 | g0079 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19088 | hp2 | a0002 | c0002 | t0001 | g0257 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19089 | hp1 | a0002 | c0002 | t0001 | g0232 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19089 | hp2 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19090 | hp1 | a0001 | c0001 | t0003 | g0070 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19090 | hp2 | a0002 | c0002 | t0001 | g0251 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19091 | hp1 | a0001 | c0001 | t0013 | g0104 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0236 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0102 | AFR | ASW | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20129 | hp2 | a0002 | c0002 | t0001 | g0209 | AFR | ASW | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0038 | SAS | GIH | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20905 | hp2 | a0002 | c0002 | t0001 | g0143 | SAS | GIH | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02109 | hp1 | a0001 | c0001 | t0009 | g0137 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02109 | hp2 | a0001 | c0001 | t0016 | g0119 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02486 | hp1 | a0001 | c0001 | t0005 | g0004 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02486 | hp2 | a0002 | c0002 | t0001 | g0211 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0088 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02559 | hp2 | a0001 | c0001 | t0005 | g0002 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03471 | hp1 | a0001 | c0001 | t0004 | g0117 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03471 | hp2 | a0002 | c0002 | t0024 | g0182 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18955 | hp1 | a0002 | c0002 | t0001 | g0175 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18955 | hp2 | a0001 | c0001 | t0003 | g0011 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0187 | AFR | USA | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20300 | hp2 | a0002 | c0002 | t0001 | g0155 | AFR | USA | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA21309 | hp1 | a0002 | c0002 | t0001 | g0184 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0109 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| homoSapiens | chm13v2 | a0002 | c0002 | t0001 | g0191 | REF | REF | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0134 | REF | REF | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120019215 | C | T | 1 | a0006 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.131C>T | p.Thr44Met | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/25 | 273/6556 | 131/2202 | 44/733 | chr2 | 120019215 | |||
| chr2:120090473 | C | T | 1 | a0004 | 1 | HG01255.hp2 | missense_variant | MODERATE | c.1000C>T | p.His334Tyr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/25 | 1142/6556 | 1000/2202 | 334/733 | chr2 | 120090473 | |||
| chr2:120127734 | G | A | 2 | a0002 a0006 |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
missense_variant | MODERATE | c.1384G>A | p.Ala462Thr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/25 | 1526/6556 | 1384/2202 | 462/733 | chr2 | 120127734 | |||
| chr2:120160937 | T | A | 1 | a0003 | 2 | HG03139.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.1850T>A | p.Met617Lys | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/25 | 1992/6556 | 1850/2202 | 617/733 | chr2 | 120160937 | |||
| chr2:120167883 | G | C | 1 | a0005 | 1 | HG02083.hp2 | missense_variant | MODERATE | c.2011G>C | p.Gly671Arg | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/25 | 2153/6556 | 2011/2202 | 671/733 | chr2 | 120167883 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120077047 | T | C | 1 | a0002c0004 | 1 | NA18967.hp1 | synonymous_variant | LOW | c.582T>C | p.Thr194Thr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/25 | 724/6556 | 582/2202 | 194/733 | chr2 | 120077047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120013132 | A | C | 13 | a0001c0001t0005 a0002c0002t0001 a0002c0002t0010 others(10): Show |
142 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(139): Show |
5_prime_UTR_variant | MODIFIER | c.-87A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/25 | 5953 | chr2 | 120013132 | ||||||
| chr2:120013199 | T | A | 1 | a0001c0001t0011 | 1 | HG00423.hp2 | 5_prime_UTR_variant | MODIFIER | c.-20T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/25 | 5886 | chr2 | 120013199 | ||||||
| chr2:120175418 | C | CTT | 8 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show |
35 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*524_*525dupTT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 526 | INFO_REALIGN_3_PRIME | chr2 | 120175418 | |||||
| chr2:120175722 | G | A | 8 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show |
34 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*815G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 815 | chr2 | 120175722 | ||||||
| chr2:120175926 | G | T | 1 | a0002c0002t0025 | 1 | HG04115.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1019G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1019 | chr2 | 120175926 | ||||||
| chr2:120176201 | T | C | 1 | a0001c0001t0008 | 2 | HG03209.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1294T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1294 | chr2 | 120176201 | ||||||
| chr2:120176262 | A | T | 1 | a0002c0002t0010 | 2 | HG02280.hp1 HG03942.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1355A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1355 | chr2 | 120176262 | ||||||
| chr2:120176321 | A | G | 1 | a0002c0002t0024 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1414A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1414 | chr2 | 120176321 | ||||||
| chr2:120176522 | G | T | 8 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show |
35 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*1615G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1615 | chr2 | 120176522 | ||||||
| chr2:120176548 | G | T | 1 | a0002c0002t0023 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1641G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1641 | chr2 | 120176548 | ||||||
| chr2:120176549 | A | T | 1 | a0002c0002t0023 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1642A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1642 | chr2 | 120176549 | ||||||
| chr2:120176703 | A | C | 1 | a0002c0002t0022 | 1 | HG00609.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1796A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1796 | chr2 | 120176703 | ||||||
| chr2:120177269 | T | C | 1 | a0002c0002t0018 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2362T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2362 | chr2 | 120177269 | ||||||
| chr2:120177320 | G | A | 1 | a0001c0001t0007 | 3 | NA18960.hp1 NA19082.hp1 NA19083.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2413G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2413 | chr2 | 120177320 | ||||||
| chr2:120177589 | A | G | 1 | a0002c0002t0021 | 1 | HG01069.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2682A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2682 | chr2 | 120177589 | ||||||
| chr2:120177653 | C | T | 1 | a0001c0001t0017 | 1 | HG02615.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2746C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2746 | chr2 | 120177653 | ||||||
| chr2:120177706 | C | T | 1 | a0001c0001t0003 | 18 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*2799C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2799 | chr2 | 120177706 | ||||||
| chr2:120177843 | T | C | 1 | a0001c0001t0008 | 2 | HG03209.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2936T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2936 | chr2 | 120177843 | ||||||
| chr2:120177881 | AT | A | 4 | a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 others(1): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*2975delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2975 | chr2 | 120177881 | ||||||
| chr2:120177972 | T | C | 1 | a0001c0001t0017 | 1 | HG02615.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3065T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3065 | chr2 | 120177972 | ||||||
| chr2:120178276 | T | C | 1 | a0001c0001t0013 | 1 | NA19091.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3369T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3369 | chr2 | 120178276 | ||||||
| chr2:120178346 | G | GCTGTTGT others(36): Show |
1 | a0001c0001t0011 | 1 | HG00423.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3520_*3562dupCTCC others(39): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3563 | INFO_REALIGN_3_PRIME | chr2 | 120178346 | |||||
| chr2:120178346 | GCTGTTGT others(36): Show |
G | 2 | a0001c0001t0015 a0002c0002t0020 |
2 | HG03195.hp1 HG03831.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3520_*3562delCTCC others(39): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3520 | INFO_REALIGN_3_PRIME | chr2 | 120178346 | |||||
| chr2:120178469 | G | C | 1 | a0002c0002t0019 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3562G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3562 | chr2 | 120178469 | ||||||
| chr2:120178916 | A | G | 1 | a0004c0006t0014 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4009A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 4009 | chr2 | 120178916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120013225 | C | CGGCGGCG others(13): Show |
1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-9+17_-9+36dupGCGG others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120013225 | ||||||
| chr2:120013227 | G | GCGGCGGC others(13): Show |
1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-9+19_-9+38dupGGCG others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120013227 | ||||||
| chr2:120013234 | C | T | 2 | a0001c0001t0002g0277 a0001c0001t0002g0278 |
2 | NA18967.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.-9+24C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013234 | |||||||
| chr2:120013247 | T | C | 6 | a0001c0001t0002g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 others(3): Show |
6 | HG02055.hp2 HG02486.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-9+37T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013247 | |||||||
| chr2:120013281 | G | A | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.-9+71G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013281 | |||||||
| chr2:120013302 | C | T | 1 | a0004c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-9+92C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013302 | |||||||
| chr2:120013352 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013352 | |||||||
| chr2:120013380 | A | G | 1 | a0001c0001t0002g0110 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-9+170A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013380 | |||||||
| chr2:120013381 | T | C | 2 | a0001c0001t0002g0008 a0001c0001t0002g0009 |
2 | HG00639.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-9+171T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013381 | |||||||
| chr2:120013682 | G | A | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-9+472G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013682 | |||||||
| chr2:120014030 | C | T | 1 | a0001c0001t0002g0109 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-9+820C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014030 | |||||||
| chr2:120014226 | T | C | 21 | a0001c0001t0002g0132 a0001c0001t0004g0113 a0001c0001t0004g0114 others(18): Show |
21 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.-9+1016T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014226 | |||||||
| chr2:120014252 | A | G | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-9+1042A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014252 | |||||||
| chr2:120014486 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1276A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014486 | |||||||
| chr2:120014548 | A | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-9+1338A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014548 | |||||||
| chr2:120014655 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1445C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014655 | |||||||
| chr2:120014944 | G | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1734G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014944 | |||||||
| chr2:120014971 | TA | T | 143 | a0001c0001t0002g0110 a0001c0001t0004g0107 a0001c0001t0004g0108 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.-9+1775delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120014971 | ||||||
| chr2:120015015 | A | AT | 7 | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0005g0002 others(4): Show |
7 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.-9+1815dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015015 | ||||||
| chr2:120015109 | G | A | 6 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 others(3): Show |
6 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.-9+1899G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015109 | |||||||
| chr2:120015183 | C | T | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-9+1973C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015183 | |||||||
| chr2:120015193 | G | T | 1 | a0002c0002t0001g0272 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-9+1983G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015193 | |||||||
| chr2:120015320 | C | CA | 34 | a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0003g0011 others(31): Show |
34 | HG00544.hp1 HG00735.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.-9+2126dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015320 | ||||||
| chr2:120015526 | C | T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.-9+2316C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015526 | |||||||
| chr2:120015581 | T | G | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-9+2371T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015581 | |||||||
| chr2:120015826 | C | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-9+2616C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015826 | |||||||
| chr2:120015872 | G | A | 1 | a0002c0002t0001g0155 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-9+2662G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015872 | |||||||
| chr2:120015907 | TA | T | 84 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(81): Show |
84 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(81): Show |
intron_variant | MODIFIER | c.-9+2716delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015907 | ||||||
| chr2:120015947 | A | G | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-9+2737A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015947 | |||||||
| chr2:120015952 | A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-9+2742A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015952 | |||||||
| chr2:120015955 | C | A | 1 | a0002c0002t0001g0206 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-9+2745C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015955 | |||||||
| chr2:120015990 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+2780A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015990 | |||||||
| chr2:120015991 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+2781C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015991 | |||||||
| chr2:120016044 | T | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-9+2834T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016044 | |||||||
| chr2:120016082 | T | C | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.-9+2872T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016082 | |||||||
| chr2:120016200 | C | T | 2 | a0001c0001t0004g0130 a0001c0001t0004g0131 |
2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.-8-2877C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016200 | |||||||
| chr2:120016204 | C | T | 1 | a0001c0001t0013g0104 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-8-2873C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016204 | |||||||
| chr2:120016301 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2776G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016301 | |||||||
| chr2:120016384 | C | T | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.-8-2693C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016384 | |||||||
| chr2:120016394 | C | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2683C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016394 | |||||||
| chr2:120016428 | C | CA | 6 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(3): Show |
6 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-8-2638dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120016428 | ||||||
| chr2:120016460 | G | A | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.-8-2617G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016460 | |||||||
| chr2:120016813 | A | G | 1 | a0006c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-8-2264A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016813 | |||||||
| chr2:120017045 | A | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2032A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017045 | |||||||
| chr2:120017053 | C | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.-8-2024C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017053 | |||||||
| chr2:120017265 | C | G | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.-8-1812C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017265 | |||||||
| chr2:120017783 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-1294A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017783 | |||||||
| chr2:120017892 | G | A | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.-8-1185G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017892 | |||||||
| chr2:120017963 | A | AT | 108 | a0001c0001t0002g0132 a0001c0001t0004g0107 a0001c0001t0004g0108 others(105): Show |
108 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(105): Show |
intron_variant | MODIFIER | c.-8-1098dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120017963 | ||||||
| chr2:120017963 | A | ATT | 5 | a0002c0002t0001g0204 a0002c0002t0001g0267 a0002c0002t0001g0268 others(2): Show |
5 | HG03516.hp2 NA18990.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8-1099_-8-1098dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120017963 | ||||||
| chr2:120018030 | C | T | 1 | a0002c0002t0001g0266 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-8-1047C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018030 | |||||||
| chr2:120018088 | G | C | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.-8-989G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018088 | |||||||
| chr2:120018188 | C | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-8-889C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018188 | |||||||
| chr2:120018370 | A | T | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-8-707A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018370 | |||||||
| chr2:120018738 | C | G | 2 | a0001c0001t0002g0102 a0001c0001t0002g0103 |
2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-8-339C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018738 | |||||||
| chr2:120018926 | G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-8-151G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018926 | |||||||
| chr2:120019003 | C | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-74C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120019003 | |||||||
| chr2:120019050 | G | A | 1 | a0001c0001t0002g0277 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-8-27G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120019050 | |||||||
| chr2:120019396 | T | C | 1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.180+132T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019396 | |||||||
| chr2:120019396 | TG | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.180+133delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019396 | |||||||
| chr2:120019412 | A | G | 9 | a0002c0002t0001g0146 a0002c0002t0001g0156 a0002c0002t0001g0158 others(6): Show |
9 | HG00639.hp1 HG01069.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+148A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019412 | |||||||
| chr2:120019893 | T | C | 2 | a0001c0001t0002g0014 a0001c0001t0002g0015 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.180+629T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019893 | |||||||
| chr2:120019907 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.180+643A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019907 | |||||||
| chr2:120019911 | AT | A | 271 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(268): Show |
271 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(268): Show |
intron_variant | MODIFIER | c.180+659delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120019911 | ||||||
| chr2:120020000 | T | C | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.180+736T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020000 | |||||||
| chr2:120020124 | C | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.180+860C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020124 | |||||||
| chr2:120020595 | CA | C | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.180+1332delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020595 | |||||||
| chr2:120020828 | AAG | A | 104 | a0001c0001t0002g0015 a0002c0002t0001g0139 a0002c0002t0001g0140 others(101): Show |
104 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.180+1567_180+1568d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120020828 | ||||||
| chr2:120020829 | AG | A | 134 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(131): Show |
134 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(131): Show |
intron_variant | MODIFIER | c.180+1566delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020829 | |||||||
| chr2:120020829 | AGAG | A | 23 | a0002c0002t0001g0155 a0002c0002t0001g0162 a0002c0002t0001g0200 others(20): Show |
23 | HG01070.hp1 HG01081.hp2 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.180+1567_180+1569d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120020829 | ||||||
| chr2:120020830 | G | A | 12 | a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0048 others(9): Show |
12 | HG01255.hp2 HG02109.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.180+1566G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020830 | |||||||
| chr2:120020832 | G | A | 107 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(104): Show |
107 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(104): Show |
intron_variant | MODIFIER | c.180+1568G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020832 | |||||||
| chr2:120020838 | T | C | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.180+1574T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020838 | |||||||
| chr2:120020839 | A | C | 1 | a0001c0001t0002g0101 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.180+1575A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020839 | |||||||
| chr2:120021256 | C | G | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.180+1992C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021256 | |||||||
| chr2:120021268 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.180+2004A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021268 | |||||||
| chr2:120021296 | C | T | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.180+2032C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021296 | |||||||
| chr2:120021337 | CA | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+2082delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120021337 | ||||||
| chr2:120021382 | C | T | 1 | a0001c0001t0002g0100 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.180+2118C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021382 | |||||||
| chr2:120021420 | G | A | 2 | a0001c0001t0004g0130 a0001c0001t0004g0131 |
2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.180+2156G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021420 | |||||||
| chr2:120021709 | C | T | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.180+2445C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021709 | |||||||
| chr2:120021710 | G | A | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.180+2446G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021710 | |||||||
| chr2:120021942 | G | A | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.180+2678G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021942 | |||||||
| chr2:120021960 | C | T | 2 | a0001c0001t0002g0098 a0001c0001t0002g0099 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.180+2696C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021960 | |||||||
| chr2:120022316 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+3052A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022316 | |||||||
| chr2:120022335 | C | A | 1 | a0002c0002t0001g0156 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.180+3071C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022335 | |||||||
| chr2:120022386 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.180+3122G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022386 | |||||||
| chr2:120022793 | C | A | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+3529C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022793 | |||||||
| chr2:120022818 | A | G | 1 | a0001c0001t0002g0097 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.180+3554A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022818 | |||||||
| chr2:120022927 | G | A | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.180+3663G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022927 | |||||||
| chr2:120022939 | G | A | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.180+3675G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022939 | |||||||
| chr2:120022954 | T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.180+3690T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022954 | |||||||
| chr2:120023240 | T | A | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.180+3976T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023240 | |||||||
| chr2:120023540 | G | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+4276G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023540 | |||||||
| chr2:120023565 | A | T | 1 | a0002c0002t0001g0139 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.180+4301A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023565 | |||||||
| chr2:120023585 | G | C | 1 | a0001c0001t0004g0130 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.180+4321G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023585 | |||||||
| chr2:120023805 | T | C | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+4541T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023805 | |||||||
| chr2:120024073 | T | G | 2 | a0001c0001t0004g0113 a0001c0001t0004g0114 |
2 | HG02572.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.180+4809T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024073 | |||||||
| chr2:120024098 | A | G | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+4834A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024098 | |||||||
| chr2:120024106 | A | G | 2 | a0001c0001t0004g0113 a0001c0001t0004g0114 |
2 | HG02572.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.180+4842A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024106 | |||||||
| chr2:120024107 | A | G | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.180+4843A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024107 | |||||||
| chr2:120024304 | G | T | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.180+5040G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024304 | |||||||
| chr2:120024449 | T | G | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.180+5185T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024449 | |||||||
| chr2:120024526 | A | G | 149 | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0003g0096 others(146): Show |
149 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(146): Show |
intron_variant | MODIFIER | c.180+5262A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024526 | |||||||
| chr2:120024617 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+5353C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024617 | |||||||
| chr2:120024708 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+5444T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024708 | |||||||
| chr2:120024738 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+5474C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024738 | |||||||
| chr2:120024749 | A | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.180+5485A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024749 | |||||||
| chr2:120024803 | C | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+5539C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024803 | |||||||
| chr2:120024854 | C | T | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.180+5590C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024854 | |||||||
| chr2:120025091 | C | A | 1 | a0001c0001t0005g0002 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.180+5827C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025091 | |||||||
| chr2:120025289 | T | G | 2 | a0001c0001t0002g0017 a0001c0001t0002g0101 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.180+6025T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025289 | |||||||
| chr2:120025292 | A | G | 7 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0206 others(4): Show |
7 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.180+6028A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025292 | |||||||
| chr2:120025359 | A | G | 1 | a0001c0001t0002g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.180+6095A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025359 | |||||||
| chr2:120025414 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+6150C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025414 | |||||||
| chr2:120025646 | A | G | 2 | a0001c0001t0002g0091 a0001c0001t0002g0092 |
2 | NA18959.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.180+6382A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025646 | |||||||
| chr2:120025707 | A | G | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.180+6443A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025707 | |||||||
| chr2:120025717 | T | C | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+6453T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025717 | |||||||
| chr2:120025720 | A | T | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+6456A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025720 | |||||||
| chr2:120026351 | CTGTTTTT others(5): Show |
C | 1 | a0001c0001t0002g0278 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.180+7093_180+7104d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120026351 | ||||||
| chr2:120026357 | TTTTG | T | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+7117_180+7120d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120026357 | ||||||
| chr2:120026425 | A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+7161A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026425 | |||||||
| chr2:120026445 | T | A | 2 | a0001c0001t0002g0018 a0001c0001t0002g0019 |
2 | HG00738.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.180+7181T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026445 | |||||||
| chr2:120026448 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+7184G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026448 | |||||||
| chr2:120026557 | C | T | 15 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(12): Show |
15 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(12): Show |
intron_variant | MODIFIER | c.180+7293C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026557 | |||||||
| chr2:120026574 | T | G | 1 | a0002c0002t0019g0203 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.180+7310T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026574 | |||||||
| chr2:120026581 | C | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+7317C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026581 | |||||||
| chr2:120026941 | G | A | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+7677G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026941 | |||||||
| chr2:120027101 | C | T | 25 | a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0091 others(22): Show |
25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.180+7837C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027101 | |||||||
| chr2:120027227 | A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.180+7963A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027227 | |||||||
| chr2:120027373 | C | G | 2 | a0001c0001t0002g0064 a0001c0001t0002g0065 |
2 | NA18993.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.180+8109C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027373 | |||||||
| chr2:120027387 | G | A | 147 | a0001c0001t0002g0132 a0001c0001t0004g0107 a0001c0001t0004g0108 others(144): Show |
147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.180+8123G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027387 | |||||||
| chr2:120027449 | T | C | 273 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(270): Show |
273 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(270): Show |
intron_variant | MODIFIER | c.180+8185T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027449 | |||||||
| chr2:120027873 | T | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+8609T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027873 | |||||||
| chr2:120027900 | CTT | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8637_180+8638d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027900 | |||||||
| chr2:120027966 | G | A | 4 | a0002c0002t0001g0136 a0002c0002t0001g0206 a0002c0002t0001g0217 others(1): Show |
4 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.180+8702G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027966 | |||||||
| chr2:120028007 | C | T | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.180+8743C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028007 | |||||||
| chr2:120028008 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8744G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028008 | |||||||
| chr2:120028020 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8756A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028020 | |||||||
| chr2:120028093 | C | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+8829C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028093 | |||||||
| chr2:120028107 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8843A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028107 | |||||||
| chr2:120028138 | A | G | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.180+8874A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028138 | |||||||
| chr2:120028143 | C | T | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.180+8879C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028143 | |||||||
| chr2:120028171 | A | AT | 9 | a0001c0001t0002g0132 a0002c0002t0001g0136 a0002c0002t0001g0155 others(6): Show |
9 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+8918dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120028171 | ||||||
| chr2:120028183 | A | T | 1 | a0001c0001t0006g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.180+8919A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028183 | |||||||
| chr2:120028614 | C | T | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.180+9350C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028614 | |||||||
| chr2:120029054 | G | A | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+9790G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029054 | |||||||
| chr2:120029256 | C | T | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+9992C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029256 | |||||||
| chr2:120029279 | C | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.180+10015C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029279 | |||||||
| chr2:120029456 | A | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+10192A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029456 | |||||||
| chr2:120029458 | A | C | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.180+10194A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029458 | |||||||
| chr2:120029534 | T | A | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+10270T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029534 | |||||||
| chr2:120029658 | G | C | 13 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(10): Show |
13 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.180+10394G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029658 | |||||||
| chr2:120029797 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+10533C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029797 | |||||||
| chr2:120030031 | G | T | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.180+10767G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030031 | |||||||
| chr2:120030191 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+10927G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030191 | |||||||
| chr2:120030631 | A | G | 1 | a0001c0001t0002g0063 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.180+11367A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030631 | |||||||
| chr2:120030647 | G | A | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.181-11359G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030647 | |||||||
| chr2:120030666 | G | C | 1 | a0002c0002t0001g0224 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.181-11340G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030666 | |||||||
| chr2:120030714 | C | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.181-11292C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030714 | |||||||
| chr2:120030848 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-11158C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030848 | |||||||
| chr2:120030906 | C | T | 1 | a0002c0002t0001g0194 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.181-11100C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030906 | |||||||
| chr2:120031321 | G | A | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.181-10685G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031321 | |||||||
| chr2:120031322 | C | A | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.181-10684C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031322 | |||||||
| chr2:120031362 | G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-10644G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031362 | |||||||
| chr2:120031668 | T | A | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.181-10338T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031668 | |||||||
| chr2:120031813 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-10193T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031813 | |||||||
| chr2:120031830 | C | T | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.181-10176C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031830 | |||||||
| chr2:120031982 | T | A | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.181-10024T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031982 | |||||||
| chr2:120032039 | T | C | 1 | a0002c0002t0001g0136 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.181-9967T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032039 | |||||||
| chr2:120032107 | G | A | 2 | a0001c0001t0002g0098 a0001c0001t0002g0099 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.181-9899G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032107 | |||||||
| chr2:120032175 | G | A | 5 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(2): Show |
5 | HG01081.hp1 HG01928.hp1 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-9831G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032175 | |||||||
| chr2:120032311 | G | A | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.181-9695G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032311 | |||||||
| chr2:120032374 | G | A | 3 | a0001c0001t0002g0132 a0001c0001t0009g0137 a0001c0001t0009g0138 |
3 | HG02109.hp1 HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.181-9632G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032374 | |||||||
| chr2:120032430 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-9576A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032430 | |||||||
| chr2:120032535 | AT | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.181-9468delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120032535 | ||||||
| chr2:120032736 | G | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-9270G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032736 | |||||||
| chr2:120032834 | G | A | 1 | a0002c0002t0001g0267 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.181-9172G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032834 | |||||||
| chr2:120032841 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.181-9165G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032841 | |||||||
| chr2:120032993 | C | T | 163 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0113 others(160): Show |
163 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(160): Show |
intron_variant | MODIFIER | c.181-9013C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032993 | |||||||
| chr2:120033142 | C | A | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8864C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033142 | |||||||
| chr2:120033308 | G | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8698G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033308 | |||||||
| chr2:120033309 | C | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8697C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033309 | |||||||
| chr2:120033329 | T | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-8677T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033329 | |||||||
| chr2:120033537 | A | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.181-8469A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033537 | |||||||
| chr2:120033708 | C | CA | 20 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0019 others(17): Show |
20 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(17): Show |
intron_variant | MODIFIER | c.181-8277dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | ||||||
| chr2:120033708 | CA | C | 19 | a0001c0001t0002g0013 a0001c0001t0002g0062 a0001c0001t0002g0132 others(16): Show |
19 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(16): Show |
intron_variant | MODIFIER | c.181-8277delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | ||||||
| chr2:120033708 | CAA | C | 124 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(121): Show |
124 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.181-8278_181-8277d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | ||||||
| chr2:120033729 | A | G | 1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.181-8277A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033729 | |||||||
| chr2:120033841 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-8165C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033841 | |||||||
| chr2:120033897 | C | T | 1 | a0001c0001t0005g0153 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.181-8109C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033897 | |||||||
| chr2:120034131 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.181-7875A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034131 | |||||||
| chr2:120034469 | G | A | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7537G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034469 | |||||||
| chr2:120034470 | A | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7536A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034470 | |||||||
| chr2:120034479 | G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-7527G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034479 | |||||||
| chr2:120034611 | C | A | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7395C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034611 | |||||||
| chr2:120034612 | A | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7394A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034612 | |||||||
| chr2:120034613 | G | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7393G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034613 | |||||||
| chr2:120034614 | C | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7392C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034614 | |||||||
| chr2:120034724 | G | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7282G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034724 | |||||||
| chr2:120034725 | C | T | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7281C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034725 | |||||||
| chr2:120034749 | C | A | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7257C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034749 | |||||||
| chr2:120034750 | A | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7256A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034750 | |||||||
| chr2:120034751 | G | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7255G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034751 | |||||||
| chr2:120034772 | A | T | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7234A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034772 | |||||||
| chr2:120034774 | A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-7232A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034774 | |||||||
| chr2:120034778 | T | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7228T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034778 | |||||||
| chr2:120034897 | TTTG | T | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.181-7100_181-7098d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120034897 | ||||||
| chr2:120034910 | C | T | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-7096C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034910 | |||||||
| chr2:120035119 | C | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6887C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035119 | |||||||
| chr2:120035120 | A | T | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035120 | |||||||
| chr2:120035121 | G | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6885G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035121 | |||||||
| chr2:120035122 | T | A | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6884T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035122 | |||||||
| chr2:120035259 | A | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.181-6747A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035259 | |||||||
| chr2:120035267 | T | A | 109 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(106): Show |
109 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.181-6739T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035267 | |||||||
| chr2:120035268 | A | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-6738A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035268 | |||||||
| chr2:120035318 | G | A | 18 | a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0029 others(15): Show |
18 | HG00544.hp2 HG02135.hp2 HG02155.hp1 others(15): Show |
intron_variant | MODIFIER | c.181-6688G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035318 | |||||||
| chr2:120035500 | C | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-6506C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035500 | |||||||
| chr2:120035550 | G | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-6456G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035550 | |||||||
| chr2:120035608 | T | C | 2 | a0002c0002t0001g0167 a0002c0002t0001g0194 |
2 | HG01496.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.181-6398T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035608 | |||||||
| chr2:120035638 | C | T | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.181-6368C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035638 | |||||||
| chr2:120035972 | C | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-6034C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035972 | |||||||
| chr2:120036050 | G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.181-5956G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036050 | |||||||
| chr2:120036111 | C | T | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5895C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036111 | |||||||
| chr2:120036112 | T | C | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5894T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036112 | |||||||
| chr2:120036138 | C | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5868C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036138 | |||||||
| chr2:120036406 | A | G | 1 | a0002c0002t0001g0259 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.181-5600A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036406 | |||||||
| chr2:120036515 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.181-5491C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036515 | |||||||
| chr2:120036522 | A | T | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5484A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036522 | |||||||
| chr2:120036545 | A | G | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.181-5461A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036545 | |||||||
| chr2:120036547 | C | T | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.181-5459C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036547 | |||||||
| chr2:120036601 | A | G | 1 | a0002c0002t0001g0218 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.181-5405A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036601 | |||||||
| chr2:120036705 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-5301A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036705 | |||||||
| chr2:120036779 | T | A | 1 | a0001c0001t0003g0068 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.181-5227T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036779 | |||||||
| chr2:120037092 | AG | A | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.181-4912delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120037092 | ||||||
| chr2:120037094 | G | A | 264 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(261): Show |
264 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(261): Show |
intron_variant | MODIFIER | c.181-4912G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037094 | |||||||
| chr2:120037191 | C | A | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.181-4815C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037191 | |||||||
| chr2:120037454 | A | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-4552A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037454 | |||||||
| chr2:120037663 | A | G | 2 | a0001c0001t0002g0060 a0001c0001t0002g0061 |
2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.181-4343A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037663 | |||||||
| chr2:120037829 | C | A | 1 | a0002c0002t0001g0228 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.181-4177C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037829 | |||||||
| chr2:120038217 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3789T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038217 | |||||||
| chr2:120038225 | T | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3781T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038225 | |||||||
| chr2:120038232 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-3774A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038232 | |||||||
| chr2:120038314 | G | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3692G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038314 | |||||||
| chr2:120038491 | C | T | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.181-3515C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038491 | |||||||
| chr2:120038560 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-3446C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038560 | |||||||
| chr2:120038596 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-3410A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038596 | |||||||
| chr2:120038862 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.181-3144A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038862 | |||||||
| chr2:120038882 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-3124G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038882 | |||||||
| chr2:120039212 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-2794A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039212 | |||||||
| chr2:120039223 | G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.181-2783G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039223 | |||||||
| chr2:120039236 | G | C | 2 | a0002c0002t0001g0229 a0002c0002t0001g0230 |
2 | NA19080.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.181-2770G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039236 | |||||||
| chr2:120039260 | A | G | 1 | a0002c0002t0001g0145 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.181-2746A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039260 | |||||||
| chr2:120039266 | T | C | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.181-2740T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039266 | |||||||
| chr2:120039293 | G | T | 1 | a0001c0001t0006g0127 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.181-2713G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039293 | |||||||
| chr2:120039297 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-2709A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039297 | |||||||
| chr2:120039489 | T | C | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.181-2517T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039489 | |||||||
| chr2:120039578 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.181-2428C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039578 | |||||||
| chr2:120039615 | C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.181-2391C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039615 | |||||||
| chr2:120039707 | C | G | 1 | a0002c0002t0001g0258 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.181-2299C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039707 | |||||||
| chr2:120039753 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-2253A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039753 | |||||||
| chr2:120039781 | T | C | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.181-2225T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039781 | |||||||
| chr2:120039845 | A | G | 8 | a0001c0001t0002g0028 a0001c0001t0004g0113 a0001c0001t0004g0114 others(5): Show |
8 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.181-2161A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039845 | |||||||
| chr2:120039859 | T | C | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.181-2147T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039859 | |||||||
| chr2:120040004 | C | T | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.181-2002C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040004 | |||||||
| chr2:120040060 | G | A | 2 | a0001c0001t0002g0060 a0001c0001t0002g0061 |
2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.181-1946G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040060 | |||||||
| chr2:120040086 | TAC | T | 44 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0064 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.181-1919_181-1918d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040086 | |||||||
| chr2:120040088 | C | T | 230 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(227): Show |
230 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(227): Show |
intron_variant | MODIFIER | c.181-1918C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040088 | |||||||
| chr2:120040268 | C | T | 1 | a0001c0001t0006g0128 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.181-1738C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040268 | |||||||
| chr2:120040393 | G | A | 2 | a0002c0002t0001g0168 a0002c0002t0001g0271 |
2 | HG02809.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.181-1613G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040393 | |||||||
| chr2:120040399 | A | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-1607A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040399 | |||||||
| chr2:120040410 | G | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-1596G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040410 | |||||||
| chr2:120040849 | A | G | 53 | a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 others(50): Show |
53 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.181-1157A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040849 | |||||||
| chr2:120040877 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-1129A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040877 | |||||||
| chr2:120041295 | T | G | 1 | a0002c0002t0023g0148 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.181-711T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041295 | |||||||
| chr2:120041296 | G | C | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.181-710G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041296 | |||||||
| chr2:120041360 | C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.181-646C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041360 | |||||||
| chr2:120041487 | G | A | 1 | a0001c0001t0002g0020 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.181-519G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041487 | |||||||
| chr2:120041519 | G | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.181-487G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041519 | |||||||
| chr2:120041543 | G | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-463G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041543 | |||||||
| chr2:120041803 | C | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.181-203C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041803 | |||||||
| chr2:120041861 | A | T | 1 | a0002c0002t0001g0145 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.181-145A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041861 | |||||||
| chr2:120041975 | T | G | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.181-31T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041975 | |||||||
| chr2:120042233 | C | T | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+123C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042233 | |||||||
| chr2:120042995 | A | ATG | 4 | a0001c0001t0004g0118 a0001c0001t0006g0120 a0001c0001t0016g0119 others(1): Show |
4 | HG00735.hp1 HG02109.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+937_285+938dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | A | ATGTG | 5 | a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0131 others(2): Show |
5 | HG02818.hp2 HG02886.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+935_285+938dup others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | A | ATGTGTG | 5 | a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0130 others(2): Show |
5 | HG01243.hp2 HG02809.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+933_285+938dup others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | A | ATGTGTGT others(3): Show |
1 | a0001c0001t0004g0114 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.285+929_285+938dup others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATG | A | 26 | a0001c0001t0003g0070 a0001c0001t0005g0002 a0001c0001t0005g0003 others(23): Show |
26 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.285+937_285+938del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTG | A | 33 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(30): Show |
33 | HG00639.hp2 HG00741.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.285+935_285+938del others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTGTG | A | 49 | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 others(46): Show |
49 | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.285+933_285+938del others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTGTGT others(1): Show |
A | 80 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0016 others(77): Show |
80 | HG00544.hp2 HG00738.hp2 HG01069.hp2 others(77): Show |
intron_variant | MODIFIER | c.285+931_285+938del others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTGTGT others(3): Show |
A | 47 | a0001c0001t0002g0039 a0001c0001t0002g0059 a0001c0001t0002g0090 others(44): Show |
47 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.285+929_285+938del others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTGTGT others(5): Show |
A | 4 | a0001c0001t0002g0045 a0001c0001t0002g0098 a0001c0001t0002g0099 others(1): Show |
4 | HG01167.hp2 HG01169.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+927_285+938del others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042995 | ATGTGTGT others(7): Show |
A | 3 | a0001c0001t0009g0137 a0002c0002t0021g0161 a0006c0007t0001g0270 |
3 | HG01069.hp1 HG02109.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.285+925_285+938del others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | ||||||
| chr2:120042997 | G | T | 6 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0002c0002t0001g0193 others(3): Show |
6 | HG00738.hp1 HG00741.hp2 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.285+887G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042997 | |||||||
| chr2:120042999 | G | T | 24 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(21): Show |
24 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.285+889G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042999 | |||||||
| chr2:120043001 | G | T | 17 | a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 others(14): Show |
17 | HG00741.hp1 HG01081.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.285+891G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043001 | |||||||
| chr2:120043003 | G | T | 27 | a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 others(24): Show |
27 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.285+893G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043003 | |||||||
| chr2:120043005 | G | T | 25 | a0002c0002t0001g0145 a0002c0002t0001g0163 a0002c0002t0001g0164 others(22): Show |
25 | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.285+895G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043005 | |||||||
| chr2:120043007 | G | T | 42 | a0002c0002t0001g0139 a0002c0002t0001g0146 a0002c0002t0001g0147 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(39): Show |
intron_variant | MODIFIER | c.285+897G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043007 | |||||||
| chr2:120043011 | G | T | 2 | a0002c0002t0021g0161 a0006c0007t0001g0270 |
2 | HG01069.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.285+901G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043011 | |||||||
| chr2:120043252 | G | A | 1 | a0002c0002t0001g0243 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.285+1142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043252 | |||||||
| chr2:120043310 | C | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+1200C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043310 | |||||||
| chr2:120043416 | G | A | 2 | a0002c0002t0001g0217 a0002c0002t0001g0218 |
2 | HG02818.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.285+1306G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043416 | |||||||
| chr2:120043461 | C | T | 13 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(10): Show |
13 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.285+1351C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043461 | |||||||
| chr2:120043574 | TA | T | 131 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.285+1478delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120043574 | ||||||
| chr2:120043603 | C | T | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.285+1493C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043603 | |||||||
| chr2:120043625 | A | C | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+1515A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043625 | |||||||
| chr2:120043792 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+1682T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043792 | |||||||
| chr2:120043827 | C | T | 1 | a0002c0002t0010g0157 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.285+1717C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043827 | |||||||
| chr2:120043873 | G | A | 1 | a0002c0002t0001g0171 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.285+1763G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043873 | |||||||
| chr2:120043881 | T | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+1771T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043881 | |||||||
| chr2:120043975 | T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+1865T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043975 | |||||||
| chr2:120044141 | T | TA | 6 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(3): Show |
6 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(3): Show |
intron_variant | MODIFIER | c.285+2047dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120044141 | ||||||
| chr2:120044213 | C | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+2103C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044213 | |||||||
| chr2:120044584 | T | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+2474T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044584 | |||||||
| chr2:120044617 | A | T | 25 | a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0091 others(22): Show |
25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.285+2507A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044617 | |||||||
| chr2:120045078 | C | T | 1 | a0002c0002t0001g0263 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.285+2968C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045078 | |||||||
| chr2:120045138 | G | A | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+3028G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045138 | |||||||
| chr2:120045142 | A | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3032A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045142 | |||||||
| chr2:120045144 | T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3034T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045144 | |||||||
| chr2:120045145 | G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3035G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045145 | |||||||
| chr2:120045148 | C | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3038C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045148 | |||||||
| chr2:120045149 | C | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3039C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045149 | |||||||
| chr2:120045154 | T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3044T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045154 | |||||||
| chr2:120045189 | G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.285+3079G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045189 | |||||||
| chr2:120045244 | G | A | 5 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 others(2): Show |
5 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+3134G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045244 | |||||||
| chr2:120045311 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+3201T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045311 | |||||||
| chr2:120045331 | T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3221T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045331 | |||||||
| chr2:120045338 | C | T | 1 | a0001c0001t0005g0005 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.285+3228C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045338 | |||||||
| chr2:120045580 | C | A | 4 | a0002c0002t0001g0202 a0002c0002t0001g0214 a0002c0002t0001g0215 others(1): Show |
4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+3470C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045580 | |||||||
| chr2:120045588 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+3478A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045588 | |||||||
| chr2:120045636 | A | G | 1 | a0002c0002t0001g0210 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.285+3526A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045636 | |||||||
| chr2:120045731 | G | A | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+3621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045731 | |||||||
| chr2:120045804 | A | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+3694A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045804 | |||||||
| chr2:120045868 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+3758C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045868 | |||||||
| chr2:120045969 | T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3859T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045969 | |||||||
| chr2:120046065 | G | GA | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+3955_285+3956i others(3): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046065 | |||||||
| chr2:120046118 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+4008C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046118 | |||||||
| chr2:120046137 | A | T | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+4027A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046137 | |||||||
| chr2:120046273 | A | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+4163A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046273 | |||||||
| chr2:120046501 | G | GT | 5 | a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0044 others(2): Show |
5 | HG02135.hp2 HG03041.hp2 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+4393dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120046501 | ||||||
| chr2:120046501 | G | T | 5 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0109 others(2): Show |
5 | HG01884.hp2 HG02451.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+4391G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046501 | |||||||
| chr2:120046503 | TG | T | 4 | a0001c0001t0002g0017 a0001c0001t0002g0060 a0001c0001t0002g0061 others(1): Show |
4 | HG01192.hp1 HG01516.hp2 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+4394delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046503 | |||||||
| chr2:120046504 | G | T | 103 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(100): Show |
103 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.285+4394G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046504 | |||||||
| chr2:120046557 | T | C | 109 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(106): Show |
109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+4447T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046557 | |||||||
| chr2:120046837 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.285+4727A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046837 | |||||||
| chr2:120047020 | G | A | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.285+4910G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047020 | |||||||
| chr2:120047036 | C | CA | 20 | a0002c0002t0001g0155 a0002c0002t0001g0202 a0002c0002t0001g0206 others(17): Show |
20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.285+4927dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120047036 | ||||||
| chr2:120047160 | G | A | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.285+5050G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047160 | |||||||
| chr2:120047223 | C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.285+5113C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047223 | |||||||
| chr2:120047247 | T | C | 20 | a0002c0002t0001g0155 a0002c0002t0001g0202 a0002c0002t0001g0206 others(17): Show |
20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.285+5137T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047247 | |||||||
| chr2:120047291 | G | A | 17 | a0002c0002t0001g0155 a0002c0002t0001g0202 a0002c0002t0001g0206 others(14): Show |
17 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.285+5181G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047291 | |||||||
| chr2:120047431 | C | T | 147 | a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0107 others(144): Show |
147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.285+5321C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047431 | |||||||
| chr2:120047434 | G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5324G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047434 | |||||||
| chr2:120047435 | A | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5325A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047435 | |||||||
| chr2:120047508 | T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5398T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047508 | |||||||
| chr2:120047516 | C | G | 4 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show |
4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+5406C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047516 | |||||||
| chr2:120047536 | C | G | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+5426C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047536 | |||||||
| chr2:120047561 | G | A | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.285+5451G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047561 | |||||||
| chr2:120047771 | C | T | 1 | a0001c0001t0002g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.285+5661C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047771 | |||||||
| chr2:120047961 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+5851G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047961 | |||||||
| chr2:120047972 | G | T | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+5862G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047972 | |||||||
| chr2:120047974 | C | T | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+5864C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047974 | |||||||
| chr2:120047975 | A | G | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+5865A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047975 | |||||||
| chr2:120047995 | G | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5885G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047995 | |||||||
| chr2:120047996 | A | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047996 | |||||||
| chr2:120047997 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5887T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047997 | |||||||
| chr2:120048012 | C | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5902C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048012 | |||||||
| chr2:120048089 | T | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+5979T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048089 | |||||||
| chr2:120048118 | T | TTC | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.285+6010_285+6011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120048118 | ||||||
| chr2:120048195 | C | T | 1 | a0002c0002t0001g0265 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.285+6085C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048195 | |||||||
| chr2:120048279 | C | T | 2 | a0001c0001t0002g0019 a0002c0002t0010g0157 |
2 | HG00738.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.285+6169C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048279 | |||||||
| chr2:120048397 | A | G | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.285+6287A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048397 | |||||||
| chr2:120048699 | T | G | 145 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+6589T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048699 | |||||||
| chr2:120048840 | G | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+6730G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048840 | |||||||
| chr2:120048869 | T | C | 1 | a0002c0002t0001g0204 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.285+6759T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048869 | |||||||
| chr2:120049064 | G | A | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.285+6954G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049064 | |||||||
| chr2:120049097 | T | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+6987T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049097 | |||||||
| chr2:120049342 | T | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+7232T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049342 | |||||||
| chr2:120049386 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+7276T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049386 | |||||||
| chr2:120049388 | G | A | 1 | a0001c0001t0002g0087 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.285+7278G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049388 | |||||||
| chr2:120049490 | C | CT | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+7389dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120049490 | ||||||
| chr2:120049618 | A | G | 5 | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0007g0073 others(2): Show |
5 | NA18959.hp2 NA18960.hp1 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+7508A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049618 | |||||||
| chr2:120049731 | G | A | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.285+7621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049731 | |||||||
| chr2:120049803 | A | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.285+7693A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049803 | |||||||
| chr2:120049809 | T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7699T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049809 | |||||||
| chr2:120049811 | C | T | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7701C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049811 | |||||||
| chr2:120049814 | T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7704T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049814 | |||||||
| chr2:120050176 | C | T | 5 | a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 others(2): Show |
5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+8066C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050176 | |||||||
| chr2:120050202 | T | C | 1 | a0001c0001t0002g0048 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.285+8092T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050202 | |||||||
| chr2:120050394 | T | G | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.285+8284T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050394 | |||||||
| chr2:120050484 | C | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.285+8374C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050484 | |||||||
| chr2:120050569 | T | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+8459T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050569 | |||||||
| chr2:120050601 | G | A | 3 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0188 |
3 | HG02109.hp1 HG02622.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.285+8491G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050601 | |||||||
| chr2:120050634 | G | A | 3 | a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0271 |
3 | HG02809.hp2 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.285+8524G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050634 | |||||||
| chr2:120050652 | G | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+8542G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050652 | |||||||
| chr2:120050658 | T | C | 1 | a0002c0002t0001g0265 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.285+8548T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050658 | |||||||
| chr2:120050709 | G | A | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.285+8599G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050709 | |||||||
| chr2:120050731 | G | A | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.285+8621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050731 | |||||||
| chr2:120050820 | A | G | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+8710A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050820 | |||||||
| chr2:120050882 | G | T | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.285+8772G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050882 | |||||||
| chr2:120051138 | G | T | 1 | a0002c0002t0001g0136 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.285+9028G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051138 | |||||||
| chr2:120051252 | G | A | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.285+9142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051252 | |||||||
| chr2:120051294 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+9184G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051294 | |||||||
| chr2:120051376 | C | T | 1 | a0001c0001t0003g0083 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.285+9266C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051376 | |||||||
| chr2:120051390 | A | C | 2 | a0001c0001t0002g0043 a0001c0001t0002g0062 |
2 | HG02155.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.285+9280A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051390 | |||||||
| chr2:120051449 | C | G | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.285+9339C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051449 | |||||||
| chr2:120051459 | A | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.285+9349A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051459 | |||||||
| chr2:120051541 | A | G | 1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.285+9431A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051541 | |||||||
| chr2:120051633 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+9523C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051633 | |||||||
| chr2:120051637 | C | T | 1 | a0001c0001t0002g0058 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.285+9527C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051637 | |||||||
| chr2:120051697 | A | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+9587A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051697 | |||||||
| chr2:120051762 | T | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+9652T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051762 | |||||||
| chr2:120051834 | GT | G | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+9734delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120051834 | ||||||
| chr2:120051857 | T | G | 2 | a0002c0002t0001g0197 a0002c0002t0001g0273 |
2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.285+9747T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051857 | |||||||
| chr2:120051992 | A | C | 10 | a0002c0002t0001g0146 a0002c0002t0001g0156 a0002c0002t0001g0158 others(7): Show |
10 | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.285+9882A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051992 | |||||||
| chr2:120052173 | G | A | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.285+10063G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052173 | |||||||
| chr2:120052179 | C | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+10069C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052179 | |||||||
| chr2:120052308 | C | T | 2 | a0002c0002t0001g0236 a0002c0002t0001g0275 |
2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.285+10198C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052308 | |||||||
| chr2:120052392 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+10282A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052392 | |||||||
| chr2:120052486 | G | A | 17 | a0002c0002t0001g0155 a0002c0002t0001g0202 a0002c0002t0001g0206 others(14): Show |
17 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.285+10376G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052486 | |||||||
| chr2:120052524 | C | T | 1 | a0002c0002t0001g0259 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.285+10414C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052524 | |||||||
| chr2:120052612 | C | T | 1 | a0001c0001t0003g0069 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.285+10502C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052612 | |||||||
| chr2:120052767 | A | G | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.285+10657A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052767 | |||||||
| chr2:120052846 | A | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+10736A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052846 | |||||||
| chr2:120052890 | A | T | 109 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(106): Show |
109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+10780A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052890 | |||||||
| chr2:120052942 | T | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.285+10832T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052942 | |||||||
| chr2:120053006 | C | T | 1 | a0001c0001t0002g0039 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.285+10896C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053006 | |||||||
| chr2:120053014 | A | G | 1 | a0002c0002t0001g0180 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.285+10904A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053014 | |||||||
| chr2:120053085 | A | T | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+10975A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053085 | |||||||
| chr2:120053086 | T | A | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+10976T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053086 | |||||||
| chr2:120053139 | A | C | 1 | a0001c0001t0005g0153 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.285+11029A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053139 | |||||||
| chr2:120053150 | G | T | 1 | a0001c0001t0002g0062 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.285+11040G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053150 | |||||||
| chr2:120053439 | T | C | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.285+11329T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053439 | |||||||
| chr2:120053452 | T | C | 1 | a0002c0002t0001g0238 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.285+11342T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053452 | |||||||
| chr2:120053483 | C | T | 109 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(106): Show |
109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+11373C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053483 | |||||||
| chr2:120053727 | A | G | 1 | a0002c0002t0001g0179 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.285+11617A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053727 | |||||||
| chr2:120053924 | G | A | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.285+11814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053924 | |||||||
| chr2:120053949 | T | A | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+11839T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053949 | |||||||
| chr2:120054191 | G | A | 14 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(11): Show |
14 | HG00423.hp2 HG00609.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.285+12081G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054191 | |||||||
| chr2:120054228 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+12118C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054228 | |||||||
| chr2:120054498 | G | A | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12388G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054498 | |||||||
| chr2:120054498 | G | GT | 7 | a0001c0001t0002g0044 a0001c0001t0004g0115 a0001c0001t0005g0002 others(4): Show |
7 | HG02135.hp2 HG02486.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+12402dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120054498 | ||||||
| chr2:120054499 | T | G | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12389T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054499 | |||||||
| chr2:120054530 | TTCTCACT others(3): Show |
T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.285+12421_285+1243 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054530 | |||||||
| chr2:120054548 | G | C | 1 | a0002c0002t0001g0165 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.285+12438G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054548 | |||||||
| chr2:120054589 | G | A | 3 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0244 |
3 | HG01358.hp2 HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+12479G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054589 | |||||||
| chr2:120054635 | G | T | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12525G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054635 | |||||||
| chr2:120054688 | T | C | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.285+12578T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054688 | |||||||
| chr2:120054798 | A | G | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.285+12688A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054798 | |||||||
| chr2:120054852 | A | G | 1 | a0001c0001t0003g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.285+12742A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054852 | |||||||
| chr2:120054863 | C | T | 143 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(140): Show |
143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.285+12753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054863 | |||||||
| chr2:120054865 | CT | C | 135 | a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0091 others(132): Show |
135 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.285+12773delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120054865 | ||||||
| chr2:120054976 | C | T | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.285+12866C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054976 | |||||||
| chr2:120055023 | T | C | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.285+12913T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055023 | |||||||
| chr2:120055101 | A | G | 2 | a0002c0002t0001g0208 a0002c0002t0001g0209 |
2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.285+12991A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055101 | |||||||
| chr2:120055147 | GCCACCAT others(17): Show |
G | 2 | a0001c0001t0002g0060 a0001c0001t0002g0061 |
2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.285+13038_285+1306 others(28): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055147 | |||||||
| chr2:120055203 | C | T | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+13093C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055203 | |||||||
| chr2:120055317 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+13207G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055317 | |||||||
| chr2:120055382 | G | A | 1 | a0001c0001t0002g0079 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.285+13272G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055382 | |||||||
| chr2:120055481 | A | AT | 133 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(130): Show |
133 | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(130): Show |
intron_variant | MODIFIER | c.285+13396dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | ||||||
| chr2:120055481 | A | ATT | 13 | a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0033 others(10): Show |
13 | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.285+13395_285+1339 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | ||||||
| chr2:120055481 | ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.285+13383_285+1339 others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | ||||||
| chr2:120055557 | C | T | 1 | a0002c0002t0001g0228 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.285+13447C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055557 | |||||||
| chr2:120055589 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+13479C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055589 | |||||||
| chr2:120055832 | A | G | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+13722A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055832 | |||||||
| chr2:120055945 | A | G | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+13835A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055945 | |||||||
| chr2:120056235 | AT | A | 8 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(5): Show |
8 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(5): Show |
intron_variant | MODIFIER | c.285+14137delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120056235 | ||||||
| chr2:120056402 | G | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+14292G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056402 | |||||||
| chr2:120056417 | G | A | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.285+14307G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056417 | |||||||
| chr2:120056601 | T | G | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.285+14491T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056601 | |||||||
| chr2:120056673 | C | CT | 269 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(266): Show |
269 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(266): Show |
intron_variant | MODIFIER | c.285+14576dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120056673 | ||||||
| chr2:120056717 | C | T | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.285+14607C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056717 | |||||||
| chr2:120056739 | C | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.285+14629C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056739 | |||||||
| chr2:120056957 | C | T | 4 | a0002c0002t0001g0195 a0002c0002t0001g0210 a0002c0002t0001g0211 others(1): Show |
4 | HG02083.hp1 HG02486.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+14847C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056957 | |||||||
| chr2:120057086 | G | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.285+14976G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057086 | |||||||
| chr2:120057179 | C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.285+15069C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057179 | |||||||
| chr2:120057181 | C | T | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.285+15071C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057181 | |||||||
| chr2:120057339 | G | A | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+15229G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057339 | |||||||
| chr2:120057424 | C | G | 52 | a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 others(49): Show |
52 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.285+15314C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057424 | |||||||
| chr2:120057499 | A | G | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.285+15389A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057499 | |||||||
| chr2:120057622 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+15512A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057622 | |||||||
| chr2:120057703 | T | A | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.286-15475T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057703 | |||||||
| chr2:120057745 | C | CT | 145 | a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0004g0107 others(142): Show |
145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-15424dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120057745 | ||||||
| chr2:120057838 | G | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-15340G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057838 | |||||||
| chr2:120058075 | T | C | 2 | a0001c0001t0002g0060 a0001c0001t0002g0061 |
2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.286-15103T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058075 | |||||||
| chr2:120058235 | G | A | 1 | a0002c0002t0001g0176 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.286-14943G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058235 | |||||||
| chr2:120058500 | G | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-14678G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058500 | |||||||
| chr2:120058522 | G | A | 1 | a0002c0002t0001g0236 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.286-14656G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058522 | |||||||
| chr2:120058572 | G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.286-14606G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058572 | |||||||
| chr2:120058689 | G | C | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.286-14489G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058689 | |||||||
| chr2:120058790 | C | T | 131 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.286-14388C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058790 | |||||||
| chr2:120058868 | A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.286-14310A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058868 | |||||||
| chr2:120059462 | T | A | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.286-13716T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059462 | |||||||
| chr2:120059594 | C | T | 2 | a0001c0001t0002g0102 a0001c0001t0002g0103 |
2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.286-13584C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059594 | |||||||
| chr2:120059726 | G | C | 7 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(4): Show |
7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.286-13452G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059726 | |||||||
| chr2:120059739 | C | CA | 5 | a0001c0001t0006g0121 a0002c0002t0001g0177 a0002c0002t0001g0201 others(2): Show |
5 | HG01261.hp2 HG01928.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-13430dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120059739 | ||||||
| chr2:120060139 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-13039G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060139 | |||||||
| chr2:120060204 | A | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-12974A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060204 | |||||||
| chr2:120060436 | G | T | 2 | a0001c0001t0002g0058 a0001c0001t0002g0109 |
2 | HG02451.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.286-12742G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060436 | |||||||
| chr2:120060445 | A | G | 1 | a0001c0001t0002g0042 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.286-12733A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060445 | |||||||
| chr2:120060479 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-12699G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060479 | |||||||
| chr2:120060608 | G | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.286-12570G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060608 | |||||||
| chr2:120060921 | A | G | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.286-12257A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060921 | |||||||
| chr2:120061031 | G | GT | 17 | a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 others(14): Show |
17 | HG00544.hp2 HG01192.hp1 HG01516.hp2 others(14): Show |
intron_variant | MODIFIER | c.286-12120dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTT | 12 | a0001c0001t0002g0047 a0001c0001t0004g0113 a0001c0001t0004g0114 others(9): Show |
12 | HG01243.hp2 HG01517.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.286-12121_286-1212 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTT | 68 | a0001c0001t0002g0008 a0001c0001t0002g0103 a0001c0001t0004g0118 others(65): Show |
68 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.286-12122_286-1212 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTT | 45 | a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0006 others(42): Show |
45 | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.286-12123_286-1212 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTT | 8 | a0001c0001t0005g0002 a0001c0001t0005g0004 a0002c0002t0001g0171 others(5): Show |
8 | HG00423.hp1 HG01952.hp2 HG02148.hp1 others(5): Show |
intron_variant | MODIFIER | c.286-12124_286-1212 others(9): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTT | 13 | a0001c0001t0006g0128 a0002c0002t0001g0136 a0002c0002t0001g0155 others(10): Show |
13 | HG01081.hp2 HG01192.hp2 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.286-12125_286-1212 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTTT | 10 | a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0009g0138 others(7): Show |
10 | HG01257.hp1 HG02280.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-12126_286-1212 others(11): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTTT others(4): Show |
2 | a0001c0001t0005g0150 a0001c0001t0005g0153 |
2 | HG01070.hp2 HG01943.hp1 |
intron_variant | MODIFIER | c.286-12130_286-1212 others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTTT others(5): Show |
3 | a0001c0001t0004g0107 a0001c0001t0005g0151 a0001c0001t0005g0154 |
3 | HG00738.hp1 HG01071.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.286-12131_286-1212 others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTTT others(6): Show |
1 | a0001c0001t0004g0108 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.286-12132_286-1212 others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | G | GTTTTTTT others(9): Show |
1 | a0001c0001t0005g0152 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.286-12135_286-1212 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061031 | GTTTTTTT others(6): Show |
G | 1 | a0002c0002t0001g0198 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.286-12132_286-1212 others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | ||||||
| chr2:120061168 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-12010G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061168 | |||||||
| chr2:120061188 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-11990A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061188 | |||||||
| chr2:120061228 | A | AT | 87 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0017 others(84): Show |
87 | HG00423.hp2 HG00609.hp1 HG00738.hp2 others(84): Show |
intron_variant | MODIFIER | c.286-11938dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061228 | ||||||
| chr2:120061234 | T | A | 2 | a0002c0002t0001g0195 a0002c0002t0001g0214 |
2 | HG02083.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.286-11944T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061234 | |||||||
| chr2:120061253 | C | T | 21 | a0001c0001t0002g0016 a0001c0001t0004g0113 a0001c0001t0004g0114 others(18): Show |
21 | HG00544.hp2 HG00735.hp1 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.286-11925C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061253 | |||||||
| chr2:120061297 | A | G | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.286-11881A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061297 | |||||||
| chr2:120061379 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-11799C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061379 | |||||||
| chr2:120061384 | G | A | 1 | a0001c0001t0004g0130 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.286-11794G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061384 | |||||||
| chr2:120061519 | G | A | 1 | a0002c0002t0001g0169 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.286-11659G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061519 | |||||||
| chr2:120061653 | A | G | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.286-11525A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061653 | |||||||
| chr2:120061758 | G | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-11420G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061758 | |||||||
| chr2:120061763 | G | T | 1 | a0001c0001t0002g0059 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.286-11415G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061763 | |||||||
| chr2:120061900 | A | G | 1 | a0001c0001t0002g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.286-11278A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061900 | |||||||
| chr2:120061971 | C | A | 1 | a0001c0001t0002g0044 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.286-11207C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061971 | |||||||
| chr2:120061986 | T | G | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.286-11192T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061986 | |||||||
| chr2:120062209 | C | T | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.286-10969C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062209 | |||||||
| chr2:120062210 | A | T | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-10968A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062210 | |||||||
| chr2:120062271 | A | G | 1 | a0002c0002t0001g0235 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.286-10907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062271 | |||||||
| chr2:120062398 | A | G | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.286-10780A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062398 | |||||||
| chr2:120062556 | A | T | 3 | a0002c0002t0001g0156 a0002c0002t0001g0221 a0002c0002t0001g0222 |
3 | NA18946.hp1 NA19077.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.286-10622A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062556 | |||||||
| chr2:120062672 | T | G | 2 | a0001c0001t0002g0102 a0001c0001t0002g0103 |
2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.286-10506T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062672 | |||||||
| chr2:120062675 | A | G | 12 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0019 others(9): Show |
12 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(9): Show |
intron_variant | MODIFIER | c.286-10503A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062675 | |||||||
| chr2:120062760 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-10418C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062760 | |||||||
| chr2:120062847 | C | CTTAAGA | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-10329_286-1032 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120062847 | ||||||
| chr2:120062957 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-10221T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062957 | |||||||
| chr2:120063202 | T | C | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-9976T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063202 | |||||||
| chr2:120063340 | C | CA | 19 | a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0006g0120 others(16): Show |
19 | HG00735.hp1 HG01981.hp1 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.286-9818dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120063340 | ||||||
| chr2:120063340 | CA | C | 12 | a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0007g0073 others(9): Show |
12 | HG01257.hp1 HG01257.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.286-9818delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120063340 | ||||||
| chr2:120063445 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-9733G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063445 | |||||||
| chr2:120063487 | A | G | 3 | a0002c0002t0001g0202 a0002c0002t0001g0215 a0002c0002t0001g0216 |
3 | HG02055.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.286-9691A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063487 | |||||||
| chr2:120063636 | C | T | 1 | a0002c0002t0001g0222 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.286-9542C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063636 | |||||||
| chr2:120063711 | C | T | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.286-9467C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063711 | |||||||
| chr2:120063723 | A | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-9455A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063723 | |||||||
| chr2:120063800 | G | T | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.286-9378G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063800 | |||||||
| chr2:120063802 | C | T | 1 | a0001c0001t0002g0019 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.286-9376C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063802 | |||||||
| chr2:120063806 | G | A | 1 | a0002c0002t0001g0208 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.286-9372G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063806 | |||||||
| chr2:120063928 | G | A | 2 | a0002c0002t0001g0239 a0002c0002t0001g0240 |
2 | NA18957.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.286-9250G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063928 | |||||||
| chr2:120063955 | A | G | 1 | a0001c0001t0007g0073 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.286-9223A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063955 | |||||||
| chr2:120063983 | G | A | 1 | a0002c0002t0001g0225 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.286-9195G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063983 | |||||||
| chr2:120064042 | A | C | 135 | a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0065 others(132): Show |
135 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.286-9136A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064042 | |||||||
| chr2:120064163 | A | T | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-9015A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064163 | |||||||
| chr2:120064201 | A | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-8977A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064201 | |||||||
| chr2:120064271 | G | T | 1 | a0001c0001t0002g0063 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.286-8907G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064271 | |||||||
| chr2:120064392 | G | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-8786G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064392 | |||||||
| chr2:120064414 | A | G | 1 | a0001c0001t0002g0012 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.286-8764A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064414 | |||||||
| chr2:120064479 | G | A | 7 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(4): Show |
7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.286-8699G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064479 | |||||||
| chr2:120064815 | T | C | 1 | a0002c0002t0010g0157 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.286-8363T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064815 | |||||||
| chr2:120064852 | C | T | 2 | a0002c0002t0001g0238 a0002c0002t0001g0243 |
2 | NA18949.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.286-8326C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064852 | |||||||
| chr2:120065076 | A | G | 1 | a0002c0002t0025g0142 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.286-8102A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120065076 | |||||||
| chr2:120065305 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-7873G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120065305 | |||||||
| chr2:120065515 | C | CT | 233 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(230): Show |
233 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(230): Show |
intron_variant | MODIFIER | c.286-7648dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120065515 | ||||||
| chr2:120065515 | C | CTT | 17 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0019 others(14): Show |
17 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.286-7649_286-7648d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120065515 | ||||||
| chr2:120066018 | A | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-7160A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066018 | |||||||
| chr2:120066135 | T | C | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.286-7043T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066135 | |||||||
| chr2:120066173 | A | G | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.286-7005A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066173 | |||||||
| chr2:120066419 | A | G | 4 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show |
4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-6759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066419 | |||||||
| chr2:120066470 | C | T | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.286-6708C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066470 | |||||||
| chr2:120066486 | T | A | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.286-6692T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066486 | |||||||
| chr2:120066652 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-6526A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066652 | |||||||
| chr2:120066658 | T | A | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.286-6520T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066658 | |||||||
| chr2:120066854 | A | C | 1 | a0002c0002t0001g0169 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.286-6324A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066854 | |||||||
| chr2:120067023 | C | T | 4 | a0002c0002t0001g0202 a0002c0002t0001g0214 a0002c0002t0001g0215 others(1): Show |
4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-6155C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067023 | |||||||
| chr2:120067039 | C | T | 2 | a0001c0001t0002g0048 a0004c0006t0014g0111 |
2 | HG01255.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.286-6139C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067039 | |||||||
| chr2:120067078 | C | T | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.286-6100C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067078 | |||||||
| chr2:120067438 | T | C | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.286-5740T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067438 | |||||||
| chr2:120067651 | T | C | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.286-5527T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067651 | |||||||
| chr2:120067927 | C | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-5251C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067927 | |||||||
| chr2:120068069 | A | C | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.286-5109A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068069 | |||||||
| chr2:120068102 | T | G | 1 | a0002c0002t0001g0170 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.286-5076T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068102 | |||||||
| chr2:120068332 | T | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-4846T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068332 | |||||||
| chr2:120068355 | G | T | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-4823G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068355 | |||||||
| chr2:120068528 | C | T | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.286-4650C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068528 | |||||||
| chr2:120068540 | C | T | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-4638C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068540 | |||||||
| chr2:120068598 | G | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-4580G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068598 | |||||||
| chr2:120068685 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-4493T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068685 | |||||||
| chr2:120068722 | A | G | 1 | a0001c0001t0002g0063 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.286-4456A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068722 | |||||||
| chr2:120068826 | TA | T | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.286-4342delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120068826 | ||||||
| chr2:120068899 | G | A | 1 | a0002c0002t0021g0161 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.286-4279G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068899 | |||||||
| chr2:120068971 | T | C | 1 | a0002c0002t0001g0224 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.286-4207T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068971 | |||||||
| chr2:120069079 | G | C | 1 | a0001c0001t0003g0069 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.286-4099G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069079 | |||||||
| chr2:120069128 | C | CA | 25 | a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0033 others(22): Show |
25 | HG00423.hp2 HG01081.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.286-4011dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAA | 29 | a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 others(26): Show |
29 | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.286-4012_286-4011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAA | 19 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(16): Show |
19 | HG00738.hp2 HG01358.hp1 HG01516.hp2 others(16): Show |
intron_variant | MODIFIER | c.286-4013_286-4011d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(3): Show |
1 | a0001c0001t0002g0049 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.286-4020_286-4011d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(4): Show |
2 | a0001c0001t0003g0068 a0001c0001t0003g0072 |
2 | NA18949.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.286-4021_286-4011d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(7): Show |
1 | a0001c0001t0002g0047 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.286-4024_286-4011d others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(8): Show |
2 | a0001c0001t0002g0008 a0001c0001t0002g0093 |
2 | HG00639.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.286-4025_286-4011d others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(10): Show |
1 | a0001c0001t0003g0011 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.286-4027_286-4011d others(19): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(11): Show |
2 | a0001c0001t0003g0067 a0001c0001t0003g0085 |
2 | NA19000.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.286-4028_286-4011d others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(13): Show |
3 | a0001c0001t0002g0009 a0001c0001t0002g0045 a0001c0001t0002g0061 |
3 | HG01192.hp1 HG02896.hp2 NA18954.hp1 |
intron_variant | MODIFIER | c.286-4030_286-4011d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | C | CAAAAAAA others(20): Show |
1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.286-4037_286-4011d others(29): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAA | C | 6 | a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0127 others(3): Show |
6 | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.286-4012_286-4011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0002g0103 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.286-4020_286-4011d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0002g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.286-4021_286-4011d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-4022_286-4011d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(6): Show |
C | 2 | a0001c0001t0002g0057 a0001c0001t0002g0132 |
2 | HG02698.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.286-4023_286-4011d others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(9): Show |
C | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.286-4026_286-4011d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(12): Show |
C | 1 | a0001c0001t0004g0115 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.286-4029_286-4011d others(21): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(13): Show |
C | 8 | a0001c0001t0003g0077 a0001c0001t0003g0082 a0002c0002t0001g0149 others(5): Show |
8 | HG00544.hp1 HG00741.hp1 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.286-4030_286-4011d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(14): Show |
C | 136 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(133): Show |
136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.286-4031_286-4011d others(23): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069128 | CAAAAAAA others(15): Show |
C | 2 | a0002c0002t0001g0234 a0002c0002t0001g0250 |
2 | HG01975.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.286-4032_286-4011d others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | ||||||
| chr2:120069272 | T | G | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.286-3906T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069272 | |||||||
| chr2:120069282 | A | G | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.286-3896A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069282 | |||||||
| chr2:120069371 | G | A | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.286-3807G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069371 | |||||||
| chr2:120069474 | A | G | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.286-3704A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069474 | |||||||
| chr2:120069508 | C | T | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.286-3670C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069508 | |||||||
| chr2:120069534 | C | A | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-3644C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069534 | |||||||
| chr2:120069548 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.286-3630A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069548 | |||||||
| chr2:120069711 | A | G | 5 | a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 others(2): Show |
5 | HG02109.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-3467A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069711 | |||||||
| chr2:120069739 | G | T | 1 | a0006c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.286-3439G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069739 | |||||||
| chr2:120069749 | A | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-3429A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069749 | |||||||
| chr2:120069861 | G | A | 1 | a0002c0002t0023g0148 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.286-3317G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069861 | |||||||
| chr2:120069876 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-3302A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069876 | |||||||
| chr2:120069890 | C | T | 5 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(2): Show |
5 | HG01891.hp1 HG02559.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.286-3288C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069890 | |||||||
| chr2:120069895 | C | T | 4 | a0002c0002t0001g0202 a0002c0002t0001g0214 a0002c0002t0001g0215 others(1): Show |
4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-3283C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069895 | |||||||
| chr2:120070011 | A | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.286-3167A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070011 | |||||||
| chr2:120070143 | A | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-3035A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070143 | |||||||
| chr2:120070190 | A | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-2988A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070190 | |||||||
| chr2:120070334 | A | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-2844A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070334 | |||||||
| chr2:120070425 | C | T | 1 | a0002c0002t0001g0167 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.286-2753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070425 | |||||||
| chr2:120070464 | C | T | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.286-2714C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070464 | |||||||
| chr2:120070491 | A | T | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.286-2687A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070491 | |||||||
| chr2:120070678 | T | G | 2 | a0002c0002t0001g0208 a0002c0002t0001g0209 |
2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.286-2500T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070678 | |||||||
| chr2:120070701 | G | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-2477G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070701 | |||||||
| chr2:120070942 | G | A | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.286-2236G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070942 | |||||||
| chr2:120071011 | T | G | 2 | a0001c0001t0002g0036 a0001c0001t0002g0038 |
2 | HG02683.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.286-2167T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071011 | |||||||
| chr2:120071016 | C | T | 4 | a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0001t0002g0041 others(1): Show |
4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.286-2162C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071016 | |||||||
| chr2:120071244 | A | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-1934A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071244 | |||||||
| chr2:120071397 | C | T | 1 | a0002c0002t0001g0155 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.286-1781C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071397 | |||||||
| chr2:120071458 | C | G | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-1720C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071458 | |||||||
| chr2:120071654 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-1524A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071654 | |||||||
| chr2:120072036 | C | T | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-1142C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072036 | |||||||
| chr2:120072538 | C | T | 3 | a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 |
3 | NA18942.hp2 NA18993.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.286-640C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072538 | |||||||
| chr2:120072675 | C | G | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.286-503C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072675 | |||||||
| chr2:120072694 | A | G | 6 | a0002c0002t0001g0212 a0002c0002t0001g0220 a0002c0002t0001g0224 others(3): Show |
6 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(3): Show |
intron_variant | MODIFIER | c.286-484A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072694 | |||||||
| chr2:120072711 | A | C | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.286-467A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072711 | |||||||
| chr2:120072729 | A | G | 1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.286-449A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072729 | |||||||
| chr2:120072929 | T | TA | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.286-236dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120072929 | ||||||
| chr2:120072977 | G | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.286-201G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072977 | |||||||
| chr2:120073001 | G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.286-177G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120073001 | |||||||
| chr2:120073051 | T | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-127T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120073051 | |||||||
| chr2:120073239 | A | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.328+19A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073239 | |||||||
| chr2:120073245 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.328+25G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073245 | |||||||
| chr2:120073431 | T | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.328+211T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073431 | |||||||
| chr2:120074078 | C | CT | 21 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(18): Show |
21 | HG00735.hp1 HG01243.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.329-10dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr2 | 120074078 | ||||||
| chr2:120074381 | G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.407+203G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074381 | |||||||
| chr2:120074584 | T | C | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.407+406T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074584 | |||||||
| chr2:120074785 | T | C | 1 | a0002c0002t0001g0144 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.407+607T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074785 | |||||||
| chr2:120074845 | C | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.408-631C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074845 | |||||||
| chr2:120074905 | G | A | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.408-571G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074905 | |||||||
| chr2:120074986 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.408-490C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074986 | |||||||
| chr2:120074999 | G | T | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.408-477G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074999 | |||||||
| chr2:120075191 | C | T | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.408-285C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120075191 | |||||||
| chr2:120075283 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.408-193G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120075283 | |||||||
| chr2:120075534 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.452+14A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075534 | |||||||
| chr2:120075599 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.452+79G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075599 | |||||||
| chr2:120075623 | A | G | 1 | a0001c0001t0002g0106 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.453-78A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075623 | |||||||
| chr2:120075624 | A | G | 4 | a0002c0002t0001g0136 a0002c0002t0001g0206 a0002c0002t0001g0217 others(1): Show |
4 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.453-77A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075624 | |||||||
| chr2:120075768 | T | G | 1 | a0002c0002t0001g0168 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.505+15T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120075768 | |||||||
| chr2:120076007 | G | T | 99 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(96): Show |
99 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.505+254G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076007 | |||||||
| chr2:120076173 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.505+420C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076173 | |||||||
| chr2:120076376 | T | C | 1 | a0004c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.506-595T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076376 | |||||||
| chr2:120076412 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.506-559C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076412 | |||||||
| chr2:120076470 | C | CT | 99 | a0001c0001t0002g0039 a0001c0001t0002g0063 a0002c0002t0001g0139 others(96): Show |
99 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.506-475dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | ||||||
| chr2:120076470 | C | CTT | 29 | a0002c0002t0001g0136 a0002c0002t0001g0146 a0002c0002t0001g0155 others(26): Show |
29 | HG00741.hp1 HG01081.hp2 HG01192.hp2 others(26): Show |
intron_variant | MODIFIER | c.506-476_506-475dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | ||||||
| chr2:120076470 | CT | C | 103 | a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 others(100): Show |
103 | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(100): Show |
intron_variant | MODIFIER | c.506-475delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | ||||||
| chr2:120076470 | CTT | C | 9 | a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0047 others(6): Show |
9 | HG01070.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.506-476_506-475del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | ||||||
| chr2:120076568 | G | A | 1 | a0001c0001t0013g0104 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.506-403G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076568 | |||||||
| chr2:120076641 | C | T | 1 | a0002c0002t0001g0260 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.506-330C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076641 | |||||||
| chr2:120077134 | A | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.626+43A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/24 | chr2 | 120077134 | |||||||
| chr2:120077195 | T | G | 1 | a0002c0002t0001g0167 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.627-34T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/24 | chr2 | 120077195 | |||||||
| chr2:120077369 | A | C | 2 | a0001c0001t0002g0091 a0001c0001t0002g0092 |
2 | NA18959.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.714+53A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077369 | |||||||
| chr2:120077539 | T | C | 1 | a0001c0001t0005g0152 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.714+223T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077539 | |||||||
| chr2:120077638 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.714+322G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077638 | |||||||
| chr2:120077644 | C | T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.714+328C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077644 | |||||||
| chr2:120077712 | CTT | C | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.714+398_714+399del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | 120077712 | ||||||
| chr2:120077772 | C | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.714+456C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077772 | |||||||
| chr2:120077915 | T | G | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.715-578T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077915 | |||||||
| chr2:120077964 | GGA | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.715-521_715-520del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | 120077964 | ||||||
| chr2:120078114 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.715-379A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078114 | |||||||
| chr2:120078154 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.715-339G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078154 | |||||||
| chr2:120078211 | A | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.715-282A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078211 | |||||||
| chr2:120078217 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.715-276A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078217 | |||||||
| chr2:120078820 | T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.803+239T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120078820 | |||||||
| chr2:120079004 | C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.803+423C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079004 | |||||||
| chr2:120079080 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+499T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079080 | |||||||
| chr2:120079418 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+837A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079418 | |||||||
| chr2:120079438 | CCCCTAGG others(4): Show |
C | 1 | a0002c0002t0024g0182 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.803+858_803+868del others(11): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079438 | |||||||
| chr2:120079587 | A | G | 2 | a0001c0001t0002g0048 a0004c0006t0014g0111 |
2 | HG01255.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.803+1006A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079587 | |||||||
| chr2:120079650 | C | A | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.803+1069C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079650 | |||||||
| chr2:120079934 | C | A | 2 | a0002c0002t0001g0236 a0002c0002t0001g0275 |
2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.803+1353C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079934 | |||||||
| chr2:120080108 | C | CT | 14 | a0001c0001t0002g0012 a0001c0001t0004g0107 a0001c0001t0004g0108 others(11): Show |
14 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(11): Show |
intron_variant | MODIFIER | c.803+1540dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120080108 | ||||||
| chr2:120080108 | CT | C | 5 | a0001c0001t0002g0029 a0002c0002t0001g0190 a0002c0002t0001g0227 others(2): Show |
5 | HG01952.hp2 HG01975.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+1540delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120080108 | ||||||
| chr2:120080256 | C | A | 1 | a0002c0002t0001g0143 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.803+1675C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080256 | |||||||
| chr2:120080272 | G | A | 1 | a0001c0001t0002g0062 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.803+1691G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080272 | |||||||
| chr2:120080337 | G | T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.803+1756G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080337 | |||||||
| chr2:120080435 | A | G | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.803+1854A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080435 | |||||||
| chr2:120080541 | T | C | 103 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(100): Show |
103 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.803+1960T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080541 | |||||||
| chr2:120080557 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+1976G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080557 | |||||||
| chr2:120080634 | G | A | 1 | a0005c0005t0002g0052 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.803+2053G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080634 | |||||||
| chr2:120080680 | C | T | 25 | a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0091 others(22): Show |
25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.803+2099C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080680 | |||||||
| chr2:120080868 | CA | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+2288delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080868 | |||||||
| chr2:120080879 | G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.803+2298G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080879 | |||||||
| chr2:120080883 | C | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.803+2302C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080883 | |||||||
| chr2:120080885 | G | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.803+2304G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080885 | |||||||
| chr2:120080958 | G | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.803+2377G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080958 | |||||||
| chr2:120081016 | G | A | 2 | a0001c0001t0002g0102 a0001c0001t0002g0103 |
2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.803+2435G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081016 | |||||||
| chr2:120081033 | C | A | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.803+2452C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081033 | |||||||
| chr2:120081190 | A | G | 7 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(4): Show |
7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.803+2609A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081190 | |||||||
| chr2:120081318 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+2737T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081318 | |||||||
| chr2:120081326 | C | T | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02083.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.803+2745C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081326 | |||||||
| chr2:120081327 | G | A | 2 | a0002c0002t0001g0165 a0002c0002t0001g0245 |
2 | HG01167.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.803+2746G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081327 | |||||||
| chr2:120081377 | A | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.803+2796A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081377 | |||||||
| chr2:120081543 | A | G | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.803+2962A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081543 | |||||||
| chr2:120081579 | T | C | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.803+2998T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081579 | |||||||
| chr2:120081608 | G | C | 13 | a0002c0002t0001g0139 a0002c0002t0001g0205 a0002c0002t0001g0228 others(10): Show |
13 | HG00408.hp2 HG01433.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.803+3027G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081608 | |||||||
| chr2:120081716 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+3135T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081716 | |||||||
| chr2:120081917 | T | G | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.803+3336T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081917 | |||||||
| chr2:120081952 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+3371T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081952 | |||||||
| chr2:120081984 | C | G | 1 | a0002c0002t0001g0194 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.803+3403C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081984 | |||||||
| chr2:120082041 | C | A | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.803+3460C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082041 | |||||||
| chr2:120082090 | A | G | 6 | a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0092 others(3): Show |
6 | NA18959.hp2 NA18960.hp1 NA18983.hp2 others(3): Show |
intron_variant | MODIFIER | c.803+3509A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082090 | |||||||
| chr2:120082186 | C | G | 35 | a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 others(32): Show |
35 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(32): Show |
intron_variant | MODIFIER | c.803+3605C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082186 | |||||||
| chr2:120082203 | C | T | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.803+3622C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082203 | |||||||
| chr2:120082531 | C | G | 1 | a0001c0001t0004g0117 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.803+3950C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082531 | |||||||
| chr2:120082827 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.803+4246G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082827 | |||||||
| chr2:120082838 | G | T | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.803+4257G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082838 | |||||||
| chr2:120082872 | G | T | 3 | a0002c0002t0001g0190 a0002c0002t0001g0227 a0002c0002t0001g0250 |
3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.803+4291G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082872 | |||||||
| chr2:120082889 | C | T | 3 | a0002c0002t0001g0156 a0002c0002t0001g0221 a0002c0002t0001g0222 |
3 | NA18946.hp1 NA19077.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.804-4282C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082889 | |||||||
| chr2:120083033 | T | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.804-4138T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083033 | |||||||
| chr2:120083082 | G | T | 3 | a0002c0002t0001g0171 a0002c0002t0001g0178 a0002c0002t0001g0204 |
3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.804-4089G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083082 | |||||||
| chr2:120083202 | GTCAGTTT others(18): Show |
G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.804-3966_804-3942d others(27): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120083202 | ||||||
| chr2:120083305 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-3866T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083305 | |||||||
| chr2:120083551 | A | G | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.804-3620A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083551 | |||||||
| chr2:120083634 | G | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.804-3537G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083634 | |||||||
| chr2:120083867 | T | A | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.804-3304T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083867 | |||||||
| chr2:120083953 | G | T | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.804-3218G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083953 | |||||||
| chr2:120084002 | G | A | 1 | a0002c0002t0001g0248 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.804-3169G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084002 | |||||||
| chr2:120084264 | A | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.804-2907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084264 | |||||||
| chr2:120084278 | G | A | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.804-2893G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084278 | |||||||
| chr2:120084424 | C | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.804-2747C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084424 | |||||||
| chr2:120084557 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.804-2614A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084557 | |||||||
| chr2:120084567 | T | C | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.804-2604T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084567 | |||||||
| chr2:120084726 | A | G | 1 | a0002c0002t0001g0180 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.804-2445A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084726 | |||||||
| chr2:120084800 | A | G | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.804-2371A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084800 | |||||||
| chr2:120085109 | G | A | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.804-2062G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085109 | |||||||
| chr2:120085288 | G | A | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.804-1883G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085288 | |||||||
| chr2:120085307 | A | T | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.804-1864A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085307 | |||||||
| chr2:120085830 | C | T | 2 | a0001c0001t0004g0107 a0001c0001t0004g0108 |
2 | HG00738.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.804-1341C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085830 | |||||||
| chr2:120085848 | A | C | 1 | a0002c0002t0001g0139 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.804-1323A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085848 | |||||||
| chr2:120085994 | A | T | 5 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0152 others(2): Show |
5 | HG00738.hp1 HG00741.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-1177A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085994 | |||||||
| chr2:120086305 | G | A | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.804-866G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086305 | |||||||
| chr2:120086357 | T | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.804-814T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086357 | |||||||
| chr2:120086393 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.804-778A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086393 | |||||||
| chr2:120086533 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-638A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086533 | |||||||
| chr2:120086690 | G | A | 139 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.804-481G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086690 | |||||||
| chr2:120087080 | T | C | 1 | a0001c0001t0002g0049 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.804-91T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120087080 | |||||||
| chr2:120087122 | A | G | 1 | a0001c0001t0005g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.804-49A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120087122 | |||||||
| chr2:120087451 | T | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+211T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087451 | |||||||
| chr2:120087624 | G | T | 1 | a0001c0001t0002g0100 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.873+384G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087624 | |||||||
| chr2:120087668 | T | C | 9 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0064 others(6): Show |
9 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+428T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087668 | |||||||
| chr2:120087715 | T | C | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.873+475T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087715 | |||||||
| chr2:120087820 | ATC | A | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.873+582_873+583del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120087820 | ||||||
| chr2:120087863 | T | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.873+623T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087863 | |||||||
| chr2:120088027 | A | G | 1 | a0001c0001t0002g0062 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.873+787A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088027 | |||||||
| chr2:120088048 | GA | G | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+809delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088048 | |||||||
| chr2:120088351 | C | T | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.873+1111C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088351 | |||||||
| chr2:120088665 | C | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0041 |
2 | NA18948.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.873+1425C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088665 | |||||||
| chr2:120088685 | T | G | 1 | a0001c0001t0002g0063 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.873+1445T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088685 | |||||||
| chr2:120088724 | GT | G | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.873+1492delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120088724 | ||||||
| chr2:120088964 | TATTA | T | 9 | a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 others(6): Show |
9 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(6): Show |
intron_variant | MODIFIER | c.874-1379_874-1376d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120088964 | ||||||
| chr2:120089256 | T | A | 140 | a0001c0001t0002g0018 a0001c0001t0004g0107 a0001c0001t0004g0108 others(137): Show |
140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.874-1091T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089256 | |||||||
| chr2:120089338 | C | G | 1 | a0006c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.874-1009C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089338 | |||||||
| chr2:120089394 | T | C | 147 | a0001c0001t0002g0018 a0001c0001t0004g0107 a0001c0001t0004g0108 others(144): Show |
147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.874-953T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089394 | |||||||
| chr2:120089791 | T | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.874-556T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089791 | |||||||
| chr2:120089817 | T | G | 1 | a0002c0004t0001g0189 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.874-530T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089817 | |||||||
| chr2:120090066 | G | A | 33 | a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 others(30): Show |
33 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(30): Show |
intron_variant | MODIFIER | c.874-281G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120090066 | |||||||
| chr2:120090257 | T | C | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.874-90T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120090257 | |||||||
| chr2:120090881 | T | C | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1043+365T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120090881 | |||||||
| chr2:120091223 | A | T | 1 | a0001c0001t0011g0026 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1044-332A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091223 | |||||||
| chr2:120091263 | G | A | 51 | a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 others(48): Show |
51 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.1044-292G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091263 | |||||||
| chr2:120091270 | G | A | 1 | a0002c0002t0001g0248 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1044-285G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091270 | |||||||
| chr2:120091308 | T | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044-247T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091308 | |||||||
| chr2:120091530 | C | T | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1044-25C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091530 | |||||||
| chr2:120091899 | G | A | 1 | a0002c0002t0001g0170 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1150+238G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120091899 | |||||||
| chr2:120091969 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1150+308A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120091969 | |||||||
| chr2:120092008 | T | TTTTA | 13 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(10): Show |
13 | HG00735.hp1 HG02109.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.1150+383_1150+386d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092008 | T | TTTTATTT others(1): Show |
4 | a0001c0001t0004g0113 a0001c0001t0004g0118 a0001c0001t0016g0119 others(1): Show |
4 | HG02109.hp2 HG02615.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1150+379_1150+386d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092008 | T | TTTTATTT others(5): Show |
5 | a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 others(2): Show |
5 | HG01243.hp2 HG02572.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1150+375_1150+386d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092008 | T | TTTTATTT others(9): Show |
1 | a0001c0001t0004g0115 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1150+371_1150+386d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092008 | TTTTA | T | 240 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(237): Show |
240 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(237): Show |
intron_variant | MODIFIER | c.1150+383_1150+386d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092008 | TTTTATTT others(9): Show |
T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1150+371_1150+386d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | ||||||
| chr2:120092177 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1150+516C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120092177 | |||||||
| chr2:120092917 | A | G | 1 | a0002c0002t0001g0169 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1151-332A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120092917 | |||||||
| chr2:120093010 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1151-239G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093010 | |||||||
| chr2:120093225 | G | T | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1151-24G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093225 | |||||||
| chr2:120093231 | T | C | 1 | a0001c0001t0002g0062 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1151-18T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093231 | |||||||
| chr2:120093434 | G | T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1178+158G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093434 | |||||||
| chr2:120093496 | C | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1178+220C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093496 | |||||||
| chr2:120093960 | CTTTTCTT others(4): Show |
C | 9 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0064 others(6): Show |
9 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+689_1178+699d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120093960 | ||||||
| chr2:120093995 | G | A | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1178+719G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093995 | |||||||
| chr2:120094061 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+785A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094061 | |||||||
| chr2:120094107 | C | T | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1178+831C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094107 | |||||||
| chr2:120094342 | G | A | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1178+1066G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094342 | |||||||
| chr2:120094466 | G | GT | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+1201dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094466 | ||||||
| chr2:120094466 | GT | G | 107 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(104): Show |
107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.1178+1201delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094466 | ||||||
| chr2:120094482 | C | CA | 29 | a0001c0001t0002g0049 a0001c0001t0004g0107 a0001c0001t0004g0108 others(26): Show |
29 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(26): Show |
intron_variant | MODIFIER | c.1178+1217dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094482 | ||||||
| chr2:120094908 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+1632C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094908 | |||||||
| chr2:120095109 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1178+1833C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095109 | |||||||
| chr2:120095176 | T | C | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1178+1900T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095176 | |||||||
| chr2:120095183 | A | G | 1 | a0001c0001t0002g0025 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1178+1907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095183 | |||||||
| chr2:120095259 | T | A | 1 | a0001c0001t0002g0089 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1178+1983T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095259 | |||||||
| chr2:120095553 | A | AT | 20 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(17): Show |
20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.1178+2288dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120095553 | ||||||
| chr2:120095889 | C | T | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1178+2613C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095889 | |||||||
| chr2:120096070 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+2794G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096070 | |||||||
| chr2:120096414 | T | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1178+3138T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096414 | |||||||
| chr2:120096544 | C | T | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1178+3268C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096544 | |||||||
| chr2:120096554 | C | T | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1178+3278C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096554 | |||||||
| chr2:120096662 | C | T | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+3386C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096662 | |||||||
| chr2:120096708 | T | G | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1178+3432T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096708 | |||||||
| chr2:120096765 | G | A | 13 | a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0001t0002g0041 others(10): Show |
13 | HG02135.hp2 NA18942.hp1 NA18948.hp2 others(10): Show |
intron_variant | MODIFIER | c.1179-3479G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096765 | |||||||
| chr2:120097016 | A | G | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1179-3228A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097016 | |||||||
| chr2:120097531 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1179-2713T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097531 | |||||||
| chr2:120097616 | A | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1179-2628A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097616 | |||||||
| chr2:120097660 | A | G | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1179-2584A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097660 | |||||||
| chr2:120097870 | A | G | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1179-2374A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097870 | |||||||
| chr2:120097877 | G | A | 137 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1179-2367G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097877 | |||||||
| chr2:120097986 | G | A | 137 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1179-2258G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097986 | |||||||
| chr2:120098145 | A | C | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1179-2099A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098145 | |||||||
| chr2:120098154 | T | TTGTGTGT others(3): Show |
1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1179-2089_1179-208 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098154 | ||||||
| chr2:120098156 | T | G | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1179-2088T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | |||||||
| chr2:120098156 | T | TGTGTGTG others(8): Show |
1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(19): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | |||||||
| chr2:120098156 | T | TGTGTGTG others(12): Show |
1 | a0002c0002t0001g0263 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(23): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | |||||||
| chr2:120098156 | T | TGTGTGTG others(16): Show |
1 | a0002c0002t0001g0232 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(27): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | |||||||
| chr2:120098156 | T | TTGTGTG | 4 | a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0058 others(1): Show |
4 | HG02451.hp1 HG02451.hp2 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.1179-2060_1179-205 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(1): Show |
18 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(15): Show |
18 | HG00408.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1179-2062_1179-205 others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(3): Show |
51 | a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0021 others(48): Show |
51 | HG00423.hp2 HG00735.hp2 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.1179-2064_1179-205 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(5): Show |
49 | a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 others(46): Show |
49 | HG00609.hp1 HG00738.hp1 HG00738.hp2 others(46): Show |
intron_variant | MODIFIER | c.1179-2066_1179-205 others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(7): Show |
37 | a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0039 others(34): Show |
37 | HG00544.hp2 HG00609.hp2 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.1179-2068_1179-205 others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(9): Show |
29 | a0001c0001t0002g0029 a0001c0001t0009g0137 a0001c0001t0009g0138 others(26): Show |
29 | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.1179-2070_1179-205 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(11): Show |
32 | a0001c0001t0002g0094 a0001c0001t0006g0120 a0001c0001t0006g0128 others(29): Show |
32 | HG00735.hp1 HG01167.hp1 HG01175.hp1 others(29): Show |
intron_variant | MODIFIER | c.1179-2072_1179-205 others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(13): Show |
24 | a0001c0001t0002g0132 a0001c0001t0006g0121 a0001c0001t0006g0122 others(21): Show |
24 | HG00544.hp1 HG02280.hp1 HG02280.hp2 others(21): Show |
intron_variant | MODIFIER | c.1179-2074_1179-205 others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(15): Show |
12 | a0001c0001t0006g0126 a0002c0002t0001g0202 a0002c0002t0001g0205 others(9): Show |
12 | HG02055.hp1 HG02630.hp2 HG03942.hp2 others(9): Show |
intron_variant | MODIFIER | c.1179-2076_1179-205 others(26): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(17): Show |
5 | a0002c0002t0001g0169 a0002c0002t0001g0247 a0002c0002t0001g0256 others(2): Show |
5 | HG00408.hp2 HG00423.hp1 HG01433.hp1 others(2): Show |
intron_variant | MODIFIER | c.1179-2078_1179-205 others(28): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(19): Show |
3 | a0002c0002t0001g0139 a0002c0002t0001g0246 a0002c0002t0018g0207 |
3 | HG02132.hp1 HG03453.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1179-2080_1179-205 others(30): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(21): Show |
2 | a0002c0002t0001g0243 a0002c0002t0001g0259 |
2 | NA18968.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.1179-2082_1179-205 others(32): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(27): Show |
1 | a0002c0002t0001g0210 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(38): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098156 | T | TTGTGTGT others(31): Show |
1 | a0002c0002t0001g0211 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(42): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | ||||||
| chr2:120098189 | T | TGTGTGTG others(18): Show |
1 | a0002c0002t0001g0228 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(29): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098189 | |||||||
| chr2:120098364 | C | T | 123 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(120): Show |
123 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(120): Show |
intron_variant | MODIFIER | c.1179-1880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098364 | |||||||
| chr2:120099125 | G | A | 137 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1179-1119G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099125 | |||||||
| chr2:120099159 | A | G | 4 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show |
4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.1179-1085A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099159 | |||||||
| chr2:120099341 | TG | T | 108 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(105): Show |
108 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(105): Show |
intron_variant | MODIFIER | c.1179-900delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120099341 | ||||||
| chr2:120099343 | G | GT | 3 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0006g0128 |
3 | HG00738.hp1 HG00741.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1179-901_1179-900i others(3): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099343 | |||||||
| chr2:120099343 | G | GTT | 5 | a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.1179-901_1179-900i others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099343 | |||||||
| chr2:120099344 | G | T | 166 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(163): Show |
166 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(163): Show |
intron_variant | MODIFIER | c.1179-900G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099344 | |||||||
| chr2:120099434 | T | A | 1 | a0002c0002t0001g0250 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1179-810T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099434 | |||||||
| chr2:120099618 | A | G | 1 | a0001c0001t0003g0081 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1179-626A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099618 | |||||||
| chr2:120099917 | G | A | 8 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0206 others(5): Show |
8 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1179-327G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099917 | |||||||
| chr2:120099929 | G | A | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1179-315G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099929 | |||||||
| chr2:120100224 | A | T | 1 | a0002c0002t0001g0228 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1179-20A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120100224 | |||||||
| chr2:120100477 | C | T | 2 | a0002c0002t0001g0225 a0002c0002t0001g0226 |
2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1221+191C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 15/24 | chr2 | 120100477 | |||||||
| chr2:120100568 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1222-131G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 15/24 | chr2 | 120100568 | |||||||
| chr2:120100872 | C | G | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1337+58C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120100872 | |||||||
| chr2:120101194 | CACA | C | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1337+384_1337+386d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120101194 | ||||||
| chr2:120101198 | A | G | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.1337+384A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101198 | |||||||
| chr2:120101219 | G | A | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1337+405G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101219 | |||||||
| chr2:120101889 | A | G | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1337+1075A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101889 | |||||||
| chr2:120102156 | T | G | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1337+1342T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102156 | |||||||
| chr2:120102180 | A | G | 1 | a0002c0002t0001g0225 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1337+1366A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102180 | |||||||
| chr2:120102181 | C | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1337+1367C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102181 | |||||||
| chr2:120102289 | C | T | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1337+1475C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102289 | |||||||
| chr2:120102437 | G | A | 1 | a0002c0002t0001g0260 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1337+1623G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102437 | |||||||
| chr2:120102489 | G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1337+1675G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102489 | |||||||
| chr2:120102591 | G | C | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1337+1777G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102591 | |||||||
| chr2:120102628 | G | A | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1337+1814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102628 | |||||||
| chr2:120102830 | C | T | 3 | a0002c0002t0001g0190 a0002c0002t0001g0227 a0002c0002t0001g0250 |
3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1337+2016C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102830 | |||||||
| chr2:120103450 | T | C | 1 | a0004c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1337+2636T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103450 | |||||||
| chr2:120103463 | G | A | 15 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(12): Show |
15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1337+2649G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103463 | |||||||
| chr2:120103506 | T | C | 131 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0136 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1337+2692T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103506 | |||||||
| chr2:120103518 | T | C | 1 | a0001c0001t0002g0032 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1337+2704T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103518 | |||||||
| chr2:120103698 | G | A | 1 | a0001c0001t0003g0081 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1337+2884G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103698 | |||||||
| chr2:120103819 | G | A | 2 | a0001c0001t0002g0098 a0001c0001t0002g0099 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1337+3005G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103819 | |||||||
| chr2:120103900 | T | C | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1337+3086T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103900 | |||||||
| chr2:120104122 | C | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1337+3308C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104122 | |||||||
| chr2:120104268 | C | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1337+3454C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104268 | |||||||
| chr2:120104519 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+3705T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104519 | |||||||
| chr2:120104849 | G | A | 1 | a0001c0001t0002g0047 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1337+4035G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104849 | |||||||
| chr2:120104877 | G | T | 131 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1337+4063G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104877 | |||||||
| chr2:120105493 | A | G | 130 | a0001c0001t0006g0120 a0002c0002t0001g0136 a0002c0002t0001g0139 others(127): Show |
130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.1337+4679A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105493 | |||||||
| chr2:120105607 | A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1337+4793A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105607 | |||||||
| chr2:120105694 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+4880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105694 | |||||||
| chr2:120105737 | C | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1337+4923C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105737 | |||||||
| chr2:120106015 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+5201C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106015 | |||||||
| chr2:120106050 | T | C | 131 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1337+5236T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106050 | |||||||
| chr2:120106085 | G | T | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1337+5271G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106085 | |||||||
| chr2:120106121 | T | C | 3 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0018g0207 |
3 | HG02109.hp1 HG02622.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1337+5307T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106121 | |||||||
| chr2:120106192 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+5378T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106192 | |||||||
| chr2:120106221 | T | C | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1337+5407T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106221 | |||||||
| chr2:120106270 | G | A | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1337+5456G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106270 | |||||||
| chr2:120106300 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1337+5486C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106300 | |||||||
| chr2:120106751 | C | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+5937C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106751 | |||||||
| chr2:120106834 | A | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+6020A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106834 | |||||||
| chr2:120106948 | A | G | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1337+6134A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106948 | |||||||
| chr2:120107187 | T | G | 134 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0136 others(131): Show |
134 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(131): Show |
intron_variant | MODIFIER | c.1337+6373T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107187 | |||||||
| chr2:120107736 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1337+6922A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107736 | |||||||
| chr2:120107849 | A | G | 2 | a0001c0001t0002g0010 a0001c0001t0002g0041 |
2 | NA18948.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.1337+7035A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107849 | |||||||
| chr2:120107971 | ATGAG | A | 3 | a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0065 |
3 | HG02135.hp2 NA18993.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.1337+7161_1337+716 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120107971 | ||||||
| chr2:120108216 | A | G | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1337+7402A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120108216 | |||||||
| chr2:120109003 | G | A | 1 | a0002c0002t0001g0204 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1337+8189G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109003 | |||||||
| chr2:120109013 | A | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+8199A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109013 | |||||||
| chr2:120109017 | G | A | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.1337+8203G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109017 | |||||||
| chr2:120109201 | C | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+8387C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109201 | |||||||
| chr2:120109221 | A | C | 4 | a0002c0002t0001g0224 a0002c0002t0001g0263 a0002c0002t0001g0272 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.1337+8407A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109221 | |||||||
| chr2:120109628 | C | T | 4 | a0002c0002t0001g0202 a0002c0002t0001g0214 a0002c0002t0001g0215 others(1): Show |
4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1337+8814C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109628 | |||||||
| chr2:120109647 | G | A | 1 | a0002c0002t0001g0272 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1337+8833G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109647 | |||||||
| chr2:120109677 | C | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1337+8863C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109677 | |||||||
| chr2:120109864 | C | T | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1337+9050C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109864 | |||||||
| chr2:120109895 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+9081G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109895 | |||||||
| chr2:120109909 | C | T | 1 | a0002c0002t0001g0145 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1337+9095C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109909 | |||||||
| chr2:120110131 | A | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1337+9317A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110131 | |||||||
| chr2:120110508 | C | T | 27 | a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 others(24): Show |
27 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.1337+9694C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110508 | |||||||
| chr2:120110635 | A | AT | 32 | a0001c0001t0002g0023 a0001c0001t0002g0094 a0001c0001t0002g0097 others(29): Show |
32 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.1337+9840dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120110635 | ||||||
| chr2:120110635 | A | T | 3 | a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0006 |
3 | HG02922.hp1 HG03453.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1337+9821A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110635 | |||||||
| chr2:120110836 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+10022A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110836 | |||||||
| chr2:120110874 | G | T | 2 | a0001c0001t0002g0045 a0001c0001t0002g0100 |
2 | NA18942.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1337+10060G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110874 | |||||||
| chr2:120111555 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+10741C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111555 | |||||||
| chr2:120111689 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+10875C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111689 | |||||||
| chr2:120111736 | G | T | 4 | a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 others(1): Show |
4 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.1337+10922G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111736 | |||||||
| chr2:120111873 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+11059A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111873 | |||||||
| chr2:120111973 | T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1337+11159T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111973 | |||||||
| chr2:120112009 | C | T | 2 | a0001c0001t0002g0018 a0001c0001t0002g0019 |
2 | HG00738.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.1337+11195C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112009 | |||||||
| chr2:120112088 | T | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+11274T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112088 | |||||||
| chr2:120112256 | A | G | 11 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(8): Show |
11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1337+11442A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112256 | |||||||
| chr2:120112300 | C | T | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.1337+11486C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112300 | |||||||
| chr2:120112470 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+11656T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112470 | |||||||
| chr2:120112472 | T | C | 1 | a0002c0002t0001g0229 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.1337+11658T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112472 | |||||||
| chr2:120112553 | T | C | 10 | a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0002t0001g0173 others(7): Show |
10 | HG01981.hp2 HG02129.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+11739T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112553 | |||||||
| chr2:120112559 | T | A | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1337+11745T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112559 | |||||||
| chr2:120112633 | G | A | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1337+11819G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112633 | |||||||
| chr2:120112678 | G | A | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1337+11864G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112678 | |||||||
| chr2:120112856 | A | G | 1 | a0002c0002t0001g0143 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1337+12042A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112856 | |||||||
| chr2:120112939 | C | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1337+12125C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112939 | |||||||
| chr2:120113034 | G | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+12220G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113034 | |||||||
| chr2:120113162 | G | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1337+12348G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113162 | |||||||
| chr2:120113616 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1337+12802G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113616 | |||||||
| chr2:120113706 | A | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+12892A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113706 | |||||||
| chr2:120113852 | A | G | 1 | a0002c0002t0001g0179 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1337+13038A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113852 | |||||||
| chr2:120113857 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+13043T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113857 | |||||||
| chr2:120113874 | T | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+13060T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113874 | |||||||
| chr2:120113937 | T | G | 2 | a0001c0001t0002g0098 a0001c0001t0002g0099 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1337+13123T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113937 | |||||||
| chr2:120114074 | T | C | 2 | a0001c0001t0003g0069 a0001c0001t0003g0083 |
2 | HG02132.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.1337+13260T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114074 | |||||||
| chr2:120114144 | C | CT | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+13336dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120114144 | ||||||
| chr2:120114202 | G | A | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.1337+13388G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114202 | |||||||
| chr2:120114374 | A | G | 2 | a0001c0001t0002g0017 a0001c0001t0002g0101 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1338-13314A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114374 | |||||||
| chr2:120114453 | T | C | 1 | a0001c0001t0002g0046 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1338-13235T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114453 | |||||||
| chr2:120114479 | T | C | 2 | a0002c0002t0001g0190 a0002c0002t0001g0227 |
2 | HG01952.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1338-13209T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114479 | |||||||
| chr2:120114566 | G | A | 1 | a0002c0002t0001g0231 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1338-13122G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114566 | |||||||
| chr2:120114693 | A | G | 1 | a0002c0002t0001g0167 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1338-12995A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114693 | |||||||
| chr2:120114772 | G | C | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1338-12916G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114772 | |||||||
| chr2:120115001 | A | G | 1 | a0001c0001t0002g0049 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1338-12687A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115001 | |||||||
| chr2:120115084 | C | T | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1338-12604C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115084 | |||||||
| chr2:120115441 | G | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-12247G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115441 | |||||||
| chr2:120115489 | C | T | 1 | a0002c0002t0001g0170 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1338-12199C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115489 | |||||||
| chr2:120115707 | T | C | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1338-11981T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115707 | |||||||
| chr2:120115912 | C | T | 4 | a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0001t0002g0041 others(1): Show |
4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-11776C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115912 | |||||||
| chr2:120116169 | A | T | 7 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 others(4): Show |
7 | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-11519A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116169 | |||||||
| chr2:120116341 | A | G | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1338-11347A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116341 | |||||||
| chr2:120116528 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-11160G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116528 | |||||||
| chr2:120116528 | G | T | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-11160G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116528 | |||||||
| chr2:120116541 | A | C | 1 | a0002c0002t0001g0180 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1338-11147A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116541 | |||||||
| chr2:120116763 | A | G | 1 | a0002c0002t0001g0240 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1338-10925A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116763 | |||||||
| chr2:120116794 | T | C | 4 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(1): Show |
4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-10894T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116794 | |||||||
| chr2:120116853 | A | G | 240 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(237): Show |
240 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(237): Show |
intron_variant | MODIFIER | c.1338-10835A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116853 | |||||||
| chr2:120116872 | G | A | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1338-10816G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116872 | |||||||
| chr2:120116935 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1338-10753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116935 | |||||||
| chr2:120117206 | T | A | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1338-10482T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117206 | |||||||
| chr2:120117280 | C | G | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1338-10408C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117280 | |||||||
| chr2:120117371 | A | G | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1338-10317A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117371 | |||||||
| chr2:120117511 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1338-10177C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117511 | |||||||
| chr2:120117624 | G | A | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1338-10064G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117624 | |||||||
| chr2:120117652 | C | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1338-10036C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117652 | |||||||
| chr2:120117757 | C | T | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1338-9931C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117757 | |||||||
| chr2:120117796 | A | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1338-9892A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117796 | |||||||
| chr2:120117892 | T | C | 3 | a0002c0002t0001g0171 a0002c0002t0001g0178 a0002c0002t0001g0204 |
3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1338-9796T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117892 | |||||||
| chr2:120118003 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1338-9685G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118003 | |||||||
| chr2:120118013 | A | G | 1 | a0002c0002t0001g0199 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1338-9675A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118013 | |||||||
| chr2:120118155 | T | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-9533T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118155 | |||||||
| chr2:120118375 | C | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-9313C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118375 | |||||||
| chr2:120118540 | T | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-9148T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118540 | |||||||
| chr2:120118695 | G | A | 1 | a0002c0002t0001g0165 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1338-8993G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118695 | |||||||
| chr2:120118728 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1338-8960C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118728 | |||||||
| chr2:120119016 | A | G | 1 | a0002c0002t0001g0168 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1338-8672A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119016 | |||||||
| chr2:120119120 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-8568C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119120 | |||||||
| chr2:120119171 | A | C | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1338-8517A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119171 | |||||||
| chr2:120119590 | A | T | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-8098A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119590 | |||||||
| chr2:120119633 | C | CT | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1338-8046dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120119633 | ||||||
| chr2:120119715 | A | G | 1 | a0001c0001t0002g0064 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1338-7973A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119715 | |||||||
| chr2:120119720 | A | AAAAC | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-7966_1338-796 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120119720 | ||||||
| chr2:120119815 | G | A | 1 | a0001c0001t0007g0078 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1338-7873G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119815 | |||||||
| chr2:120119829 | C | T | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-7859C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119829 | |||||||
| chr2:120119850 | G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1338-7838G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119850 | |||||||
| chr2:120119929 | A | G | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1338-7759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119929 | |||||||
| chr2:120119996 | C | T | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1338-7692C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119996 | |||||||
| chr2:120119999 | T | C | 51 | a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 others(48): Show |
51 | HG00423.hp2 HG00609.hp1 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.1338-7689T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119999 | |||||||
| chr2:120120030 | T | G | 1 | a0001c0001t0002g0051 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1338-7658T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120030 | |||||||
| chr2:120120057 | T | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-7631T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120057 | |||||||
| chr2:120120121 | G | A | 4 | a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0102 others(1): Show |
4 | HG01192.hp1 HG02257.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.1338-7567G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120121 | |||||||
| chr2:120120417 | G | A | 1 | a0002c0002t0001g0180 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1338-7271G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120417 | |||||||
| chr2:120120431 | C | CA | 151 | a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0063 others(148): Show |
151 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(148): Show |
intron_variant | MODIFIER | c.1338-7239dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120120431 | ||||||
| chr2:120120596 | T | A | 139 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.1338-7092T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120596 | |||||||
| chr2:120120779 | A | G | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1338-6909A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120779 | |||||||
| chr2:120120782 | G | C | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1338-6906G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120782 | |||||||
| chr2:120120853 | C | T | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1338-6835C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120853 | |||||||
| chr2:120120986 | C | T | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1338-6702C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120986 | |||||||
| chr2:120121068 | G | GATT | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-6619_1338-661 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120121068 | ||||||
| chr2:120121148 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-6540A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121148 | |||||||
| chr2:120121401 | C | T | 1 | a0001c0001t0002g0095 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1338-6287C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121401 | |||||||
| chr2:120121559 | C | T | 8 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(5): Show |
8 | HG00735.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1338-6129C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121559 | |||||||
| chr2:120121578 | C | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1338-6110C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121578 | |||||||
| chr2:120121653 | A | G | 6 | a0002c0002t0001g0136 a0002c0002t0001g0206 a0002c0002t0001g0213 others(3): Show |
6 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1338-6035A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121653 | |||||||
| chr2:120121687 | A | C | 3 | a0002c0002t0001g0171 a0002c0002t0001g0178 a0002c0002t0001g0204 |
3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1338-6001A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121687 | |||||||
| chr2:120121699 | T | G | 2 | a0001c0001t0002g0043 a0001c0001t0002g0062 |
2 | HG02155.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1338-5989T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121699 | |||||||
| chr2:120121838 | C | G | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1338-5850C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121838 | |||||||
| chr2:120122008 | C | T | 1 | a0002c0002t0001g0257 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1338-5680C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122008 | |||||||
| chr2:120122048 | T | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-5640T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122048 | |||||||
| chr2:120122270 | T | G | 2 | a0002c0002t0001g0225 a0002c0002t0001g0226 |
2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1338-5418T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122270 | |||||||
| chr2:120122364 | G | A | 1 | a0001c0001t0011g0026 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1338-5324G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122364 | |||||||
| chr2:120122529 | A | G | 1 | a0002c0002t0001g0168 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1338-5159A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122529 | |||||||
| chr2:120122652 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-5036A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122652 | |||||||
| chr2:120122656 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-5032T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122656 | |||||||
| chr2:120122685 | T | C | 1 | a0002c0002t0001g0261 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1338-5003T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122685 | |||||||
| chr2:120122738 | C | T | 112 | a0001c0001t0003g0096 a0002c0002t0001g0139 a0002c0002t0001g0140 others(109): Show |
112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1338-4950C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122738 | |||||||
| chr2:120122749 | C | G | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1338-4939C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122749 | |||||||
| chr2:120122929 | G | A | 1 | a0002c0002t0001g0251 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1338-4759G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122929 | |||||||
| chr2:120122931 | G | T | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1338-4757G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122931 | |||||||
| chr2:120123110 | A | C | 1 | a0001c0001t0006g0126 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1338-4578A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123110 | |||||||
| chr2:120123150 | G | GT | 13 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(10): Show |
13 | HG00735.hp1 HG01516.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.1338-4529dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123150 | ||||||
| chr2:120123249 | G | A | 1 | a0001c0001t0002g0062 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1338-4439G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123249 | |||||||
| chr2:120123360 | G | A | 1 | a0002c0002t0001g0145 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1338-4328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123360 | |||||||
| chr2:120123405 | G | GT | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1338-4279dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123405 | ||||||
| chr2:120123576 | A | C | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1338-4112A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123576 | |||||||
| chr2:120123646 | C | CT | 112 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0016 others(109): Show |
112 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(109): Show |
intron_variant | MODIFIER | c.1338-4014dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123646 | C | CTT | 70 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 others(67): Show |
70 | HG00639.hp2 HG00738.hp1 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.1338-4015_1338-401 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123646 | C | CTTT | 11 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(8): Show |
11 | HG00423.hp2 HG00609.hp1 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1338-4016_1338-401 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123646 | CT | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0006 others(2): Show |
5 | HG01243.hp1 HG02486.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1338-4014delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123646 | CTTTTTTT others(2): Show |
C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-4022_1338-401 others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123646 | CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0002g0043 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1338-4024_1338-401 others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | ||||||
| chr2:120123722 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-3966A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123722 | |||||||
| chr2:120124137 | G | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-3551G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124137 | |||||||
| chr2:120124144 | A | C | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1338-3544A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124144 | |||||||
| chr2:120124707 | C | T | 1 | a0002c0002t0001g0177 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1338-2981C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124707 | |||||||
| chr2:120124751 | T | C | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-2937T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124751 | |||||||
| chr2:120125065 | ACTTGATA others(3): Show |
A | 1 | a0002c0002t0001g0175 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1338-2622_1338-261 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125065 | |||||||
| chr2:120125701 | G | A | 2 | a0002c0002t0001g0140 a0002c0002t0001g0144 |
2 | HG01109.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.1338-1987G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125701 | |||||||
| chr2:120125737 | G | A | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1338-1951G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125737 | |||||||
| chr2:120125807 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1338-1881G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125807 | |||||||
| chr2:120126223 | A | G | 1 | a0002c0002t0001g0266 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1338-1465A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126223 | |||||||
| chr2:120126295 | C | T | 4 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 others(1): Show |
4 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.1338-1393C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126295 | |||||||
| chr2:120126928 | C | T | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1338-760C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126928 | |||||||
| chr2:120127074 | T | C | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1338-614T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127074 | |||||||
| chr2:120127152 | T | C | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1338-536T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127152 | |||||||
| chr2:120127390 | C | T | 4 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0109 others(1): Show |
4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-298C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127390 | |||||||
| chr2:120127681 | A | G | 1 | a0001c0001t0004g0113 | 1 | HG03516.hp1 | splice_region_variant&intron_variant | LOW | c.1338-7A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127681 | |||||||
| chr2:120127867 | A | G | 1 | a0002c0002t0025g0142 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1501+16A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120127867 | |||||||
| chr2:120128003 | A | C | 4 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(1): Show |
4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+152A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128003 | |||||||
| chr2:120128004 | G | C | 4 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(1): Show |
4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+153G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128004 | |||||||
| chr2:120128005 | G | T | 4 | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(1): Show |
4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+154G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128005 | |||||||
| chr2:120128111 | T | C | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1501+260T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128111 | |||||||
| chr2:120128256 | A | AAC | 66 | a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0018 others(63): Show |
66 | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(63): Show |
intron_variant | MODIFIER | c.1501+439_1501+440d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACAC | 8 | a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0179 others(5): Show |
8 | HG00609.hp2 HG01169.hp2 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.1501+437_1501+440d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(1): Show |
4 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0154 others(1): Show |
4 | HG00738.hp1 HG00741.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+433_1501+440d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(3): Show |
9 | a0001c0001t0005g0002 a0001c0001t0005g0150 a0001c0001t0005g0151 others(6): Show |
9 | HG01070.hp2 HG01071.hp2 HG01943.hp1 others(6): Show |
intron_variant | MODIFIER | c.1501+431_1501+440d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(5): Show |
36 | a0002c0002t0001g0139 a0002c0002t0001g0164 a0002c0002t0001g0190 others(33): Show |
36 | HG00423.hp1 HG01257.hp2 HG01346.hp2 others(33): Show |
intron_variant | MODIFIER | c.1501+429_1501+440d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(7): Show |
11 | a0001c0001t0004g0131 a0002c0002t0001g0147 a0002c0002t0001g0149 others(8): Show |
11 | HG00408.hp2 HG00544.hp1 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1501+427_1501+440d others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(11): Show |
13 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(10): Show |
13 | HG01243.hp2 HG01433.hp1 HG01516.hp1 others(10): Show |
intron_variant | MODIFIER | c.1501+423_1501+440d others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(13): Show |
3 | a0001c0001t0006g0120 a0001c0001t0006g0126 a0001c0001t0006g0128 |
3 | HG00735.hp1 HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1501+421_1501+440d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(15): Show |
4 | a0001c0001t0005g0006 a0001c0001t0006g0129 a0001c0001t0012g0124 others(1): Show |
4 | HG02976.hp2 HG03225.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1501+419_1501+440d others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128256 | A | AACACACA others(17): Show |
5 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(2): Show |
5 | HG02486.hp1 HG02647.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1501+417_1501+440d others(26): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | ||||||
| chr2:120128292 | T | C | 5 | a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 others(2): Show |
5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.1501+441T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128292 | |||||||
| chr2:120128473 | T | C | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1501+622T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128473 | |||||||
| chr2:120128527 | A | G | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1501+676A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128527 | |||||||
| chr2:120128708 | G | GT | 10 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(7): Show |
10 | HG01069.hp1 HG02109.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1501+871dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128708 | ||||||
| chr2:120128823 | GGTA | G | 52 | a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 others(49): Show |
52 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.1501+978_1501+980d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128823 | ||||||
| chr2:120129039 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1501+1188A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129039 | |||||||
| chr2:120129097 | A | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1501+1246A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129097 | |||||||
| chr2:120129335 | C | CA | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1501+1495dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120129335 | ||||||
| chr2:120129343 | A | AAAAG | 123 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(120): Show |
123 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(120): Show |
intron_variant | MODIFIER | c.1501+1508_1501+151 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120129343 | ||||||
| chr2:120129417 | A | G | 1 | a0001c0001t0002g0065 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1501+1566A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129417 | |||||||
| chr2:120129459 | A | C | 1 | a0002c0002t0001g0257 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1501+1608A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129459 | |||||||
| chr2:120129845 | A | G | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1502-1773A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129845 | |||||||
| chr2:120129884 | G | A | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1502-1734G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129884 | |||||||
| chr2:120129928 | C | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1502-1690C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129928 | |||||||
| chr2:120129944 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1502-1674G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129944 | |||||||
| chr2:120130036 | C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1502-1582C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130036 | |||||||
| chr2:120130143 | C | CA | 124 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(121): Show |
124 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1502-1457dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130143 | ||||||
| chr2:120130143 | C | CAA | 6 | a0002c0002t0001g0149 a0002c0002t0001g0190 a0002c0002t0001g0219 others(3): Show |
6 | HG00544.hp1 HG01952.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.1502-1458_1502-145 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130143 | ||||||
| chr2:120130229 | GT | G | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1502-1387delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130229 | ||||||
| chr2:120130268 | G | A | 144 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(141): Show |
144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.1502-1350G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130268 | |||||||
| chr2:120130384 | G | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1502-1234G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130384 | |||||||
| chr2:120130405 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1502-1213G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130405 | |||||||
| chr2:120130493 | A | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1502-1125A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130493 | |||||||
| chr2:120130497 | T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1502-1121T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130497 | |||||||
| chr2:120130628 | G | A | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.1502-990G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130628 | |||||||
| chr2:120130946 | C | G | 4 | a0002c0002t0001g0249 a0002c0002t0001g0254 a0002c0002t0001g0255 others(1): Show |
4 | HG00423.hp1 NA18943.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1502-672C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130946 | |||||||
| chr2:120131113 | G | A | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1502-505G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131113 | |||||||
| chr2:120131131 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1502-487A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131131 | |||||||
| chr2:120131193 | T | C | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1502-425T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131193 | |||||||
| chr2:120131318 | G | A | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1502-300G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131318 | |||||||
| chr2:120131597 | G | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1502-21G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131597 | |||||||
| chr2:120131599 | C | CT | 15 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(12): Show |
15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
splice_region_variant&intron_variant | LOW | c.1502-9dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120131599 | ||||||
| chr2:120131908 | C | T | 1 | a0001c0001t0004g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1599+193C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120131908 | |||||||
| chr2:120131938 | T | TA | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1599+234dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120131938 | ||||||
| chr2:120131950 | C | T | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1599+235C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120131950 | |||||||
| chr2:120132365 | T | C | 2 | a0002c0002t0001g0225 a0002c0002t0001g0226 |
2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1599+650T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132365 | |||||||
| chr2:120132652 | C | T | 131 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1599+937C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132652 | |||||||
| chr2:120132865 | G | C | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1599+1150G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132865 | |||||||
| chr2:120132880 | G | T | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1599+1165G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132880 | |||||||
| chr2:120132912 | T | C | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1599+1197T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132912 | |||||||
| chr2:120133073 | A | C | 1 | a0002c0002t0001g0197 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1599+1358A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133073 | |||||||
| chr2:120133111 | A | G | 166 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0113 others(163): Show |
166 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(163): Show |
intron_variant | MODIFIER | c.1599+1396A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133111 | |||||||
| chr2:120133344 | G | A | 2 | a0001c0001t0002g0087 a0001c0001t0002g0089 |
2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1599+1629G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133344 | |||||||
| chr2:120133355 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1599+1640A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133355 | |||||||
| chr2:120133402 | A | G | 2 | a0002c0002t0010g0157 a0002c0002t0010g0160 |
2 | HG02280.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1599+1687A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133402 | |||||||
| chr2:120133427 | A | C | 1 | a0001c0001t0016g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1599+1712A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133427 | |||||||
| chr2:120133500 | C | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1599+1785C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133500 | |||||||
| chr2:120133535 | G | A | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.1599+1820G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133535 | |||||||
| chr2:120133574 | C | T | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1599+1859C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133574 | |||||||
| chr2:120133628 | G | A | 1 | a0002c0002t0001g0224 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1599+1913G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133628 | |||||||
| chr2:120133741 | C | A | 6 | a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 others(3): Show |
6 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.1599+2026C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133741 | |||||||
| chr2:120134006 | G | A | 1 | a0002c0002t0001g0183 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1599+2291G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134006 | |||||||
| chr2:120134271 | A | G | 2 | a0001c0001t0002g0277 a0001c0001t0002g0278 |
2 | NA18967.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.1599+2556A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134271 | |||||||
| chr2:120134303 | C | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1599+2588C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134303 | |||||||
| chr2:120134352 | G | A | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1599+2637G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134352 | |||||||
| chr2:120134393 | C | T | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1599+2678C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134393 | |||||||
| chr2:120134564 | C | T | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1599+2849C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134564 | |||||||
| chr2:120134959 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1599+3244C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134959 | |||||||
| chr2:120135124 | A | T | 3 | a0002c0002t0001g0176 a0002c0002t0019g0203 a0002c0002t0022g0174 |
3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1599+3409A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135124 | |||||||
| chr2:120135407 | C | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1599+3692C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135407 | |||||||
| chr2:120135575 | T | C | 2 | a0001c0001t0006g0121 a0001c0001t0006g0122 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1599+3860T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135575 | |||||||
| chr2:120135600 | G | A | 1 | a0002c0002t0001g0257 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1599+3885G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135600 | |||||||
| chr2:120135610 | A | G | 1 | a0002c0002t0001g0176 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1599+3895A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135610 | |||||||
| chr2:120135697 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1599+3982A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135697 | |||||||
| chr2:120135844 | G | A | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1599+4129G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135844 | |||||||
| chr2:120136152 | A | ATT | 14 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(11): Show |
14 | HG02486.hp1 HG02559.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.1599+4452_1599+445 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120136152 | ||||||
| chr2:120136152 | AT | A | 11 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(8): Show |
11 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.1599+4453delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120136152 | ||||||
| chr2:120136779 | C | T | 2 | a0002c0002t0001g0197 a0002c0002t0001g0273 |
2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1599+5064C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120136779 | |||||||
| chr2:120136931 | G | C | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1599+5216G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120136931 | |||||||
| chr2:120137116 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1599+5401A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137116 | |||||||
| chr2:120137698 | G | A | 3 | a0002c0002t0001g0190 a0002c0002t0001g0227 a0002c0002t0001g0250 |
3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1600-5305G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137698 | |||||||
| chr2:120137770 | A | C | 8 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0206 others(5): Show |
8 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1600-5233A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137770 | |||||||
| chr2:120138097 | G | A | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1600-4906G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138097 | |||||||
| chr2:120138783 | A | G | 1 | a0001c0001t0005g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1600-4220A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138783 | |||||||
| chr2:120138864 | A | G | 1 | a0002c0002t0001g0244 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1600-4139A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138864 | |||||||
| chr2:120138910 | T | G | 1 | a0001c0001t0002g0039 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1600-4093T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138910 | |||||||
| chr2:120138983 | C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1600-4020C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138983 | |||||||
| chr2:120139106 | T | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-3897T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139106 | |||||||
| chr2:120139152 | C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1600-3851C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139152 | |||||||
| chr2:120139361 | A | G | 1 | a0002c0002t0021g0161 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1600-3642A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139361 | |||||||
| chr2:120139379 | G | A | 1 | a0001c0001t0002g0018 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1600-3624G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139379 | |||||||
| chr2:120139689 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-3314C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139689 | |||||||
| chr2:120140123 | G | A | 1 | a0002c0002t0001g0175 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1600-2880G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140123 | |||||||
| chr2:120140170 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1600-2833G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140170 | |||||||
| chr2:120140495 | A | G | 1 | a0002c0002t0001g0162 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1600-2508A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140495 | |||||||
| chr2:120140507 | G | C | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.1600-2496G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140507 | |||||||
| chr2:120140609 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-2394A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140609 | |||||||
| chr2:120140720 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-2283A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140720 | |||||||
| chr2:120140748 | G | A | 2 | a0002c0002t0010g0157 a0002c0002t0010g0160 |
2 | HG02280.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1600-2255G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140748 | |||||||
| chr2:120141258 | T | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1600-1745T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141258 | |||||||
| chr2:120141402 | A | G | 2 | a0002c0002t0001g0208 a0002c0002t0001g0209 |
2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1600-1601A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141402 | |||||||
| chr2:120141428 | CAG | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-1573_1600-157 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120141428 | ||||||
| chr2:120141458 | A | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1600-1545A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141458 | |||||||
| chr2:120141549 | C | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-1454C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141549 | |||||||
| chr2:120141879 | C | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1600-1124C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141879 | |||||||
| chr2:120141995 | G | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-1008G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141995 | |||||||
| chr2:120142023 | A | C | 2 | a0001c0001t0002g0014 a0001c0001t0002g0015 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1600-980A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142023 | |||||||
| chr2:120142065 | C | G | 21 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(18): Show |
21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1600-938C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142065 | |||||||
| chr2:120142107 | C | CT | 16 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(13): Show |
16 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.1600-890dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142107 | ||||||
| chr2:120142113 | TA | T | 9 | a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0055 others(6): Show |
9 | HG01081.hp1 HG01169.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1600-869delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | ||||||
| chr2:120142113 | TAA | T | 26 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(23): Show |
26 | HG01081.hp2 HG01257.hp1 HG01261.hp1 others(23): Show |
intron_variant | MODIFIER | c.1600-870_1600-869d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | ||||||
| chr2:120142113 | TAAA | T | 109 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0151 others(106): Show |
109 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.1600-871_1600-869d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | ||||||
| chr2:120142113 | TAAAA | T | 9 | a0001c0001t0005g0150 a0001c0001t0005g0152 a0002c0002t0001g0147 others(6): Show |
9 | HG01070.hp2 HG01243.hp1 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.1600-872_1600-869d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | ||||||
| chr2:120142114 | A | T | 115 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(112): Show |
115 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.1600-889A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142114 | |||||||
| chr2:120142115 | A | T | 22 | a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0055 others(19): Show |
22 | HG01081.hp1 HG01169.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.1600-888A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142115 | |||||||
| chr2:120142116 | A | T | 26 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(23): Show |
26 | HG01081.hp2 HG01257.hp1 HG01261.hp1 others(23): Show |
intron_variant | MODIFIER | c.1600-887A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142116 | |||||||
| chr2:120142117 | A | T | 135 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(132): Show |
135 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1600-886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142117 | |||||||
| chr2:120142118 | A | T | 137 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1600-885A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142118 | |||||||
| chr2:120142119 | A | T | 119 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(116): Show |
119 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.1600-884A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142119 | |||||||
| chr2:120142120 | A | T | 7 | a0001c0001t0005g0150 a0001c0001t0005g0152 a0002c0002t0001g0147 others(4): Show |
7 | HG01070.hp2 HG01243.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-883A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142120 | |||||||
| chr2:120142346 | A | G | 1 | a0001c0001t0002g0045 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1600-657A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142346 | |||||||
| chr2:120142636 | C | G | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1600-367C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142636 | |||||||
| chr2:120142829 | G | A | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.1600-174G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142829 | |||||||
| chr2:120143160 | T | C | 106 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(103): Show |
106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1728+29T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143160 | |||||||
| chr2:120143553 | C | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1728+422C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143553 | |||||||
| chr2:120143974 | C | G | 133 | a0001c0001t0002g0041 a0002c0002t0001g0136 a0002c0002t0001g0139 others(130): Show |
133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1728+843C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143974 | |||||||
| chr2:120144121 | C | A | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1728+990C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144121 | |||||||
| chr2:120144225 | A | G | 4 | a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 others(1): Show |
4 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.1728+1094A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144225 | |||||||
| chr2:120144623 | G | A | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1728+1492G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144623 | |||||||
| chr2:120144685 | A | G | 1 | a0001c0001t0011g0026 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1729-1540A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144685 | |||||||
| chr2:120144901 | T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1729-1324T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144901 | |||||||
| chr2:120144975 | A | G | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1729-1250A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144975 | |||||||
| chr2:120145371 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-854G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145371 | |||||||
| chr2:120145418 | G | A | 3 | a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0006 |
3 | HG02922.hp1 HG03453.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1729-807G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145418 | |||||||
| chr2:120145459 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1729-766A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145459 | |||||||
| chr2:120145555 | G | A | 2 | a0001c0001t0003g0077 a0001c0001t0003g0082 |
2 | NA18947.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1729-670G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145555 | |||||||
| chr2:120145574 | A | G | 3 | a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 |
3 | HG00423.hp1 NA18943.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.1729-651A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145574 | |||||||
| chr2:120145591 | T | C | 111 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(108): Show |
111 | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.1729-634T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145591 | |||||||
| chr2:120145602 | C | G | 144 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(141): Show |
144 | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(141): Show |
intron_variant | MODIFIER | c.1729-623C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145602 | |||||||
| chr2:120145628 | A | G | 136 | a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0055 others(133): Show |
136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.1729-597A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145628 | |||||||
| chr2:120145806 | TGTG | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-414_1729-412d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | 120145806 | ||||||
| chr2:120145877 | C | T | 1 | a0002c0002t0001g0227 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1729-348C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145877 | |||||||
| chr2:120145897 | G | A | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1729-328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145897 | |||||||
| chr2:120145941 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-284A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145941 | |||||||
| chr2:120145945 | CA | C | 266 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(263): Show |
266 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(263): Show |
intron_variant | MODIFIER | c.1729-270delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | 120145945 | ||||||
| chr2:120146014 | A | C | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1729-211A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120146014 | |||||||
| chr2:120146328 | A | T | 1 | a0001c0001t0002g0053 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1793+39A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120146328 | |||||||
| chr2:120147163 | G | C | 138 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(135): Show |
138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1793+874G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147163 | |||||||
| chr2:120147223 | G | A | 1 | a0001c0001t0003g0080 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1793+934G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147223 | |||||||
| chr2:120147360 | G | T | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1793+1071G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147360 | |||||||
| chr2:120147397 | C | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1793+1108C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147397 | |||||||
| chr2:120147624 | C | CA | 18 | a0001c0001t0004g0107 a0002c0002t0001g0140 a0002c0002t0001g0156 others(15): Show |
18 | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1793+1357dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | ||||||
| chr2:120147624 | CA | C | 102 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(99): Show |
102 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.1793+1357delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | ||||||
| chr2:120147624 | CAAAAAAA others(3): Show |
C | 1 | a0002c0002t0001g0210 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1793+1348_1793+135 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | ||||||
| chr2:120147770 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+1481A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147770 | |||||||
| chr2:120147986 | A | C | 108 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(105): Show |
108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1793+1697A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147986 | |||||||
| chr2:120148086 | G | A | 1 | a0001c0001t0004g0117 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1793+1797G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148086 | |||||||
| chr2:120148410 | A | G | 2 | a0002c0002t0001g0139 a0002c0002t0001g0246 |
2 | HG02132.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1793+2121A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148410 | |||||||
| chr2:120148499 | C | T | 1 | a0002c0002t0001g0197 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1793+2210C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148499 | |||||||
| chr2:120148514 | C | A | 2 | a0002c0002t0001g0183 a0002c0002t0001g0187 |
2 | HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1793+2225C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148514 | |||||||
| chr2:120148812 | G | A | 3 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0273 |
3 | HG02109.hp1 HG02135.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+2523G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148812 | |||||||
| chr2:120148830 | A | T | 1 | a0002c0002t0024g0182 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1793+2541A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148830 | |||||||
| chr2:120148959 | G | GT | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1793+2671dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120148959 | ||||||
| chr2:120149417 | T | C | 274 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(271): Show |
274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.1793+3128T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149417 | |||||||
| chr2:120149426 | A | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+3137A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149426 | |||||||
| chr2:120149437 | C | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1793+3148C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149437 | |||||||
| chr2:120149703 | A | G | 2 | a0001c0001t0002g0017 a0001c0001t0002g0101 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1793+3414A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149703 | |||||||
| chr2:120149746 | A | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1793+3457A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149746 | |||||||
| chr2:120149763 | C | T | 1 | a0002c0002t0001g0253 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1793+3474C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149763 | |||||||
| chr2:120149764 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+3475G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149764 | |||||||
| chr2:120149798 | A | C | 7 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(4): Show |
7 | HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+3509A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149798 | |||||||
| chr2:120149892 | C | CT | 50 | a0001c0001t0009g0137 a0001c0001t0009g0138 a0002c0002t0001g0139 others(47): Show |
50 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.1793+3623dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | ||||||
| chr2:120149892 | C | CTT | 6 | a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0001t0005g0006 others(3): Show |
6 | HG01346.hp2 HG02922.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1793+3622_1793+362 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | ||||||
| chr2:120149892 | CT | C | 110 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(107): Show |
110 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(107): Show |
intron_variant | MODIFIER | c.1793+3623delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | ||||||
| chr2:120149996 | G | A | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1793+3707G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149996 | |||||||
| chr2:120150048 | A | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+3759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150048 | |||||||
| chr2:120150256 | T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.1793+3967T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150256 | |||||||
| chr2:120150259 | T | G | 1 | a0001c0001t0003g0084 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1793+3970T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150259 | |||||||
| chr2:120150386 | A | G | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1793+4097A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150386 | |||||||
| chr2:120150490 | T | C | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1793+4201T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150490 | |||||||
| chr2:120150555 | T | G | 1 | a0001c0001t0002g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1793+4266T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150555 | |||||||
| chr2:120150599 | T | C | 1 | a0001c0001t0002g0061 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1793+4310T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150599 | |||||||
| chr2:120150661 | CT | C | 6 | a0001c0001t0002g0023 a0001c0001t0005g0002 a0001c0001t0005g0003 others(3): Show |
6 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1793+4382delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120150661 | ||||||
| chr2:120150792 | T | A | 1 | a0002c0002t0001g0210 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1793+4503T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150792 | |||||||
| chr2:120151103 | G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1793+4814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151103 | |||||||
| chr2:120151256 | C | T | 3 | a0002c0002t0001g0247 a0002c0002t0001g0258 a0002c0002t0001g0261 |
3 | HG01433.hp1 HG01978.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.1793+4967C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151256 | |||||||
| chr2:120151265 | A | T | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1793+4976A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151265 | |||||||
| chr2:120151278 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1793+4989C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151278 | |||||||
| chr2:120151306 | T | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1793+5017T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151306 | |||||||
| chr2:120151309 | T | A | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1793+5020T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151309 | |||||||
| chr2:120151385 | C | T | 1 | a0001c0001t0006g0128 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1793+5096C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151385 | |||||||
| chr2:120151503 | C | A | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1793+5214C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151503 | |||||||
| chr2:120151561 | C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1793+5272C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151561 | |||||||
| chr2:120151572 | A | C | 1 | a0001c0001t0002g0053 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1793+5283A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151572 | |||||||
| chr2:120151609 | CCTTT | C | 15 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(12): Show |
15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1793+5321_1793+532 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151609 | |||||||
| chr2:120151610 | C | CT | 18 | a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0079 others(15): Show |
18 | HG01109.hp2 HG01346.hp1 HG01358.hp1 others(15): Show |
intron_variant | MODIFIER | c.1793+5343dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120151610 | ||||||
| chr2:120151610 | CT | C | 7 | a0001c0001t0002g0045 a0001c0001t0004g0118 a0001c0001t0006g0122 others(4): Show |
7 | HG02895.hp1 HG02897.hp1 HG03239.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+5343delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120151610 | ||||||
| chr2:120151622 | T | C | 1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1793+5333T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151622 | |||||||
| chr2:120151632 | T | A | 1 | a0002c0002t0001g0267 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1793+5343T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151632 | |||||||
| chr2:120151668 | A | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1793+5379A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151668 | |||||||
| chr2:120151673 | A | G | 2 | a0001c0001t0002g0017 a0001c0001t0002g0101 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1793+5384A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151673 | |||||||
| chr2:120151678 | G | A | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+5389G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151678 | |||||||
| chr2:120151855 | A | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.1793+5566A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151855 | |||||||
| chr2:120151934 | A | G | 1 | a0001c0001t0002g0066 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1793+5645A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151934 | |||||||
| chr2:120152030 | T | G | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1793+5741T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152030 | |||||||
| chr2:120152221 | G | GA | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1793+5937dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120152221 | ||||||
| chr2:120152278 | A | G | 2 | a0002c0002t0001g0210 a0002c0002t0001g0211 |
2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1793+5989A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152278 | |||||||
| chr2:120152323 | A | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+6034A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152323 | |||||||
| chr2:120152399 | G | A | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1793+6110G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152399 | |||||||
| chr2:120152414 | CA | C | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+6126delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152414 | |||||||
| chr2:120152433 | G | A | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1793+6144G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152433 | |||||||
| chr2:120152826 | G | A | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1793+6537G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152826 | |||||||
| chr2:120152922 | T | C | 1 | a0002c0002t0001g0164 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1793+6633T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152922 | |||||||
| chr2:120152929 | C | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1793+6640C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152929 | |||||||
| chr2:120153085 | G | A | 1 | a0001c0001t0002g0060 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1793+6796G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153085 | |||||||
| chr2:120153094 | G | A | 1 | a0002c0002t0001g0238 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1793+6805G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153094 | |||||||
| chr2:120153444 | G | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1793+7155G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153444 | |||||||
| chr2:120153626 | T | C | 2 | a0002c0002t0001g0236 a0002c0002t0001g0275 |
2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.1794-7255T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153626 | |||||||
| chr2:120154095 | G | GT | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0206 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1794-6775dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120154095 | ||||||
| chr2:120154096 | T | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-6785T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154096 | |||||||
| chr2:120154098 | T | C | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1794-6783T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154098 | |||||||
| chr2:120154147 | A | G | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1794-6734A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154147 | |||||||
| chr2:120154155 | T | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1794-6726T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154155 | |||||||
| chr2:120154412 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1794-6469G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154412 | |||||||
| chr2:120154460 | C | T | 2 | a0002c0002t0001g0264 a0002c0002t0001g0265 |
2 | NA18970.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1794-6421C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154460 | |||||||
| chr2:120154491 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1794-6390C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154491 | |||||||
| chr2:120154754 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1794-6127G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154754 | |||||||
| chr2:120154782 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-6099C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154782 | |||||||
| chr2:120154787 | G | A | 3 | a0002c0002t0001g0176 a0002c0002t0019g0203 a0002c0002t0022g0174 |
3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1794-6094G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154787 | |||||||
| chr2:120154873 | C | T | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1794-6008C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154873 | |||||||
| chr2:120155001 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-5880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155001 | |||||||
| chr2:120155626 | C | T | 1 | a0001c0001t0002g0057 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1794-5255C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155626 | |||||||
| chr2:120155797 | T | A | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1794-5084T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155797 | |||||||
| chr2:120155800 | TAA | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-5070_1794-506 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120155800 | ||||||
| chr2:120155881 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1794-5000G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155881 | |||||||
| chr2:120155968 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-4913C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155968 | |||||||
| chr2:120156171 | C | T | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-4710C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156171 | |||||||
| chr2:120156360 | A | G | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1794-4521A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156360 | |||||||
| chr2:120156552 | A | C | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1794-4329A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156552 | |||||||
| chr2:120156627 | A | C | 19 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(16): Show |
19 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(16): Show |
intron_variant | MODIFIER | c.1794-4254A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156627 | |||||||
| chr2:120156794 | T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1794-4087T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156794 | |||||||
| chr2:120157210 | G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1794-3671G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157210 | |||||||
| chr2:120157424 | G | GA | 13 | a0001c0001t0002g0045 a0001c0001t0002g0100 a0001c0001t0002g0105 others(10): Show |
13 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(10): Show |
intron_variant | MODIFIER | c.1794-3446dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157424 | ||||||
| chr2:120157523 | A | C | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-3358A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157523 | |||||||
| chr2:120157570 | G | T | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1794-3311G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157570 | |||||||
| chr2:120157751 | G | A | 137 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1794-3130G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157751 | |||||||
| chr2:120157768 | C | CA | 28 | a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0057 others(25): Show |
28 | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.1794-3094dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157768 | ||||||
| chr2:120157768 | CA | C | 14 | a0001c0001t0002g0102 a0001c0001t0003g0086 a0001c0001t0004g0118 others(11): Show |
14 | HG01070.hp2 HG01884.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1794-3094delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157768 | ||||||
| chr2:120158108 | G | A | 3 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 |
3 | HG02683.hp1 HG03831.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1794-2773G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158108 | |||||||
| chr2:120158128 | C | T | 2 | a0002c0002t0001g0188 a0002c0002t0001g0229 |
2 | NA19010.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1794-2753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158128 | |||||||
| chr2:120158206 | C | A | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1794-2675C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158206 | |||||||
| chr2:120158227 | C | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1794-2654C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158227 | |||||||
| chr2:120158494 | A | G | 1 | a0001c0001t0002g0035 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1794-2387A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158494 | |||||||
| chr2:120158661 | C | G | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.1794-2220C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158661 | |||||||
| chr2:120158809 | C | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.1794-2072C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158809 | |||||||
| chr2:120158868 | G | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1794-2013G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158868 | |||||||
| chr2:120158912 | T | C | 1 | a0002c0002t0001g0248 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1794-1969T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158912 | |||||||
| chr2:120159021 | T | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-1860T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159021 | |||||||
| chr2:120159260 | T | TA | 20 | a0001c0001t0003g0067 a0001c0001t0003g0084 a0002c0002t0001g0136 others(17): Show |
20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.1794-1607dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159260 | ||||||
| chr2:120159275 | C | A | 131 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1794-1606C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159275 | |||||||
| chr2:120159297 | C | A | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1794-1584C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159297 | |||||||
| chr2:120159423 | CA | C | 31 | a0001c0001t0002g0010 a0001c0001t0002g0059 a0001c0001t0002g0079 others(28): Show |
31 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.1794-1438delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159423 | ||||||
| chr2:120159423 | CAA | C | 136 | a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 others(133): Show |
136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.1794-1439_1794-143 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159423 | ||||||
| chr2:120159447 | ACAAT | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-1429_1794-142 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159447 | ||||||
| chr2:120159454 | A | G | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.1794-1427A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159454 | |||||||
| chr2:120159577 | A | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-1304A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159577 | |||||||
| chr2:120159602 | C | G | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1794-1279C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159602 | |||||||
| chr2:120159796 | A | G | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-1085A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159796 | |||||||
| chr2:120159932 | T | C | 1 | a0002c0002t0001g0251 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1794-949T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159932 | |||||||
| chr2:120160001 | T | G | 1 | a0001c0001t0002g0038 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1794-880T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160001 | |||||||
| chr2:120160024 | G | T | 1 | a0001c0001t0002g0063 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1794-857G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160024 | |||||||
| chr2:120160204 | C | T | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1794-677C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160204 | |||||||
| chr2:120160233 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1794-648C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160233 | |||||||
| chr2:120160481 | T | C | 2 | a0001c0001t0006g0126 a0001c0001t0006g0127 |
2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1794-400T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160481 | |||||||
| chr2:120160707 | G | A | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-174G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160707 | |||||||
| chr2:120161009 | A | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1887+35A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161009 | |||||||
| chr2:120161150 | T | C | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1887+176T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161150 | |||||||
| chr2:120161151 | G | A | 3 | a0002c0002t0001g0176 a0002c0002t0019g0203 a0002c0002t0022g0174 |
3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1887+177G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161151 | |||||||
| chr2:120161174 | T | TC | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1887+201dupC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120161174 | ||||||
| chr2:120161198 | C | T | 1 | a0001c0001t0005g0003 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1887+224C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161198 | |||||||
| chr2:120161243 | T | G | 1 | a0002c0004t0001g0189 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+269T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161243 | |||||||
| chr2:120161244 | G | T | 1 | a0002c0004t0001g0189 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+270G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161244 | |||||||
| chr2:120161296 | T | C | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1887+322T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161296 | |||||||
| chr2:120161375 | CA | C | 147 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 others(144): Show |
147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1887+418delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120161375 | ||||||
| chr2:120161383 | A | T | 1 | a0002c0004t0001g0189 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+409A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161383 | |||||||
| chr2:120161393 | T | A | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1887+419T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161393 | |||||||
| chr2:120161533 | T | C | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.1887+559T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161533 | |||||||
| chr2:120161710 | A | G | 1 | a0001c0001t0002g0023 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1887+736A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161710 | |||||||
| chr2:120161912 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1887+938A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161912 | |||||||
| chr2:120162216 | C | T | 170 | a0001c0001t0002g0132 a0001c0001t0004g0107 a0001c0001t0004g0108 others(167): Show |
170 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(167): Show |
intron_variant | MODIFIER | c.1887+1242C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162216 | |||||||
| chr2:120162329 | G | T | 1 | a0002c0002t0001g0168 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1887+1355G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162329 | |||||||
| chr2:120162465 | A | G | 2 | a0002c0002t0001g0197 a0002c0002t0001g0273 |
2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1887+1491A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162465 | |||||||
| chr2:120162597 | A | G | 1 | a0002c0002t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1887+1623A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162597 | |||||||
| chr2:120162654 | A | G | 1 | a0001c0001t0002g0058 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1887+1680A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162654 | |||||||
| chr2:120162781 | C | T | 1 | a0002c0002t0001g0251 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1887+1807C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162781 | |||||||
| chr2:120162849 | A | T | 1 | a0002c0002t0001g0177 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1887+1875A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162849 | |||||||
| chr2:120162881 | TG | T | 10 | a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 others(7): Show |
10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1887+1908delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162881 | |||||||
| chr2:120163258 | G | GC | 27 | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0030 others(24): Show |
27 | HG00741.hp2 HG01496.hp1 HG01928.hp1 others(24): Show |
intron_variant | MODIFIER | c.1888-1564dupC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163258 | ||||||
| chr2:120163258 | GC | G | 56 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(53): Show |
56 | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.1888-1564delC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163258 | ||||||
| chr2:120163267 | C | T | 1 | a0002c0002t0022g0174 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1888-1569C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163267 | |||||||
| chr2:120163268 | C | A | 1 | a0001c0001t0002g0053 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1888-1568C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163268 | |||||||
| chr2:120163272 | C | A | 116 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(113): Show |
116 | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(113): Show |
intron_variant | MODIFIER | c.1888-1564C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163272 | |||||||
| chr2:120163272 | C | CA | 17 | a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0149 others(14): Show |
17 | HG00423.hp1 HG00544.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.1888-1557dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163272 | ||||||
| chr2:120163392 | C | T | 3 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 |
3 | HG02683.hp1 HG03831.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1888-1444C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163392 | |||||||
| chr2:120163591 | G | GT | 8 | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0064 others(5): Show |
8 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(5): Show |
intron_variant | MODIFIER | c.1888-1227dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | ||||||
| chr2:120163591 | GT | G | 139 | a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0027 others(136): Show |
139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.1888-1227delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | ||||||
| chr2:120163591 | GTT | G | 9 | a0002c0002t0001g0136 a0002c0002t0001g0145 a0002c0002t0001g0155 others(6): Show |
9 | HG01884.hp1 HG01884.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1888-1228_1888-122 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | ||||||
| chr2:120163595 | T | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1888-1241T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163595 | |||||||
| chr2:120163704 | C | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1888-1132C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163704 | |||||||
| chr2:120163758 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1888-1078C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163758 | |||||||
| chr2:120163787 | C | G | 1 | a0002c0002t0001g0252 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1888-1049C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163787 | |||||||
| chr2:120163819 | G | C | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1888-1017G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163819 | |||||||
| chr2:120163956 | C | T | 137 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(134): Show |
137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1888-880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163956 | |||||||
| chr2:120163960 | T | TTTTTA | 167 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0113 others(164): Show |
167 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(164): Show |
intron_variant | MODIFIER | c.1888-871_1888-867d others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163960 | ||||||
| chr2:120163980 | C | CTTTTTT | 5 | a0002c0002t0001g0192 a0002c0002t0001g0238 a0002c0002t0001g0243 others(2): Show |
5 | HG01257.hp2 HG02155.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.1888-841_1888-836d others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | ||||||
| chr2:120163980 | C | CTTTTTTT | 129 | a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0117 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(126): Show |
intron_variant | MODIFIER | c.1888-842_1888-836d others(9): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | ||||||
| chr2:120163980 | C | CTTTTTTT others(1): Show |
32 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0114 others(29): Show |
32 | HG00423.hp1 HG00544.hp1 HG00738.hp1 others(29): Show |
intron_variant | MODIFIER | c.1888-843_1888-836d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | ||||||
| chr2:120164044 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1888-792G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164044 | |||||||
| chr2:120164045 | C | T | 2 | a0002c0002t0001g0224 a0002c0002t0001g0263 |
2 | HG01257.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.1888-791C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164045 | |||||||
| chr2:120164054 | C | T | 3 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0018g0207 |
3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1888-782C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164054 | |||||||
| chr2:120164066 | T | C | 3 | a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0004t0001g0189 |
3 | NA18967.hp1 NA18990.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.1888-770T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164066 | |||||||
| chr2:120164190 | G | T | 2 | a0002c0002t0001g0208 a0002c0002t0001g0209 |
2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1888-646G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164190 | |||||||
| chr2:120165028 | TTA | T | 9 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1962+120_1962+121d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165028 | ||||||
| chr2:120165211 | T | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1962+301T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165211 | |||||||
| chr2:120165238 | G | A | 1 | a0002c0002t0024g0182 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1962+328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165238 | |||||||
| chr2:120165905 | G | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1962+995G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165905 | |||||||
| chr2:120165946 | C | T | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1962+1036C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165946 | |||||||
| chr2:120165947 | G | A | 3 | a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0096 |
3 | NA18947.hp1 NA18969.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.1962+1037G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165947 | |||||||
| chr2:120165967 | C | CA | 85 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0013 others(82): Show |
85 | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(82): Show |
intron_variant | MODIFIER | c.1962+1084dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | ||||||
| chr2:120165967 | C | CAA | 14 | a0001c0001t0002g0066 a0001c0001t0002g0278 a0001c0001t0005g0154 others(11): Show |
14 | HG00544.hp1 HG01346.hp1 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.1962+1083_1962+108 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | ||||||
| chr2:120165967 | CA | C | 12 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 others(9): Show |
12 | HG00639.hp1 HG01070.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.1962+1084delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | ||||||
| chr2:120165967 | CAA | C | 6 | a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0118 others(3): Show |
6 | HG01891.hp2 HG02109.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1962+1083_1962+108 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | ||||||
| chr2:120165967 | CAAAAAAA others(9): Show |
C | 2 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1962+1069_1962+108 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | ||||||
| chr2:120166068 | G | A | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1962+1158G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166068 | |||||||
| chr2:120166410 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1963-1056G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166410 | |||||||
| chr2:120166421 | G | A | 20 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(17): Show |
20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1963-1045G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166421 | |||||||
| chr2:120166457 | T | TG | 130 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(127): Show |
130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.1963-1006dupG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120166457 | ||||||
| chr2:120166461 | T | G | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1963-1005T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166461 | |||||||
| chr2:120166573 | G | A | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1963-893G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166573 | |||||||
| chr2:120166683 | A | G | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1963-783A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166683 | |||||||
| chr2:120166727 | C | T | 1 | a0002c0002t0001g0196 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1963-739C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166727 | |||||||
| chr2:120166879 | T | C | 5 | a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 others(2): Show |
5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.1963-587T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166879 | |||||||
| chr2:120166968 | T | C | 18 | a0002c0002t0001g0136 a0002c0002t0001g0155 a0002c0002t0001g0202 others(15): Show |
18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1963-498T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166968 | |||||||
| chr2:120167133 | C | T | 1 | a0002c0002t0001g0147 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1963-333C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167133 | |||||||
| chr2:120167223 | A | C | 1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1963-243A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167223 | |||||||
| chr2:120167312 | G | T | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1963-154G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167312 | |||||||
| chr2:120167576 | G | A | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2004+69G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167576 | |||||||
| chr2:120167634 | T | G | 9 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(6): Show |
9 | HG01981.hp2 HG02148.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.2004+127T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167634 | |||||||
| chr2:120167685 | G | A | 1 | a0001c0001t0002g0019 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2004+178G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167685 | |||||||
| chr2:120167691 | A | C | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2004+184A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167691 | |||||||
| chr2:120167708 | A | C | 1 | a0004c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2005-169A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167708 | |||||||
| chr2:120168075 | T | C | 1 | a0002c0002t0001g0166 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2135+68T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168075 | |||||||
| chr2:120168290 | C | T | 132 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.2135+283C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168290 | |||||||
| chr2:120168400 | C | G | 1 | a0002c0002t0001g0248 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2135+393C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168400 | |||||||
| chr2:120168651 | C | T | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2135+644C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168651 | |||||||
| chr2:120168678 | G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2135+671G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168678 | |||||||
| chr2:120169079 | A | C | 1 | a0002c0002t0001g0181 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2135+1072A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169079 | |||||||
| chr2:120169189 | A | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2135+1182A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169189 | |||||||
| chr2:120169637 | G | A | 2 | a0002c0002t0001g0139 a0002c0002t0001g0246 |
2 | HG02132.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2135+1630G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169637 | |||||||
| chr2:120169672 | C | T | 1 | a0001c0001t0002g0053 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.2135+1665C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169672 | |||||||
| chr2:120169774 | C | T | 1 | a0004c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2135+1767C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169774 | |||||||
| chr2:120169828 | G | A | 1 | a0003c0003t0006g0125 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2135+1821G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169828 | |||||||
| chr2:120169999 | A | G | 4 | a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0001t0002g0041 others(1): Show |
4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.2135+1992A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169999 | |||||||
| chr2:120170014 | A | G | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2135+2007A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170014 | |||||||
| chr2:120170130 | A | G | 2 | a0001c0001t0008g0133 a0001c0001t0008g0135 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2135+2123A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170130 | |||||||
| chr2:120170324 | G | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2135+2317G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170324 | |||||||
| chr2:120171070 | G | A | 1 | a0001c0001t0002g0090 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2135+3063G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171070 | |||||||
| chr2:120171114 | A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2135+3107A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171114 | |||||||
| chr2:120171479 | T | G | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.2136-3362T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171479 | |||||||
| chr2:120172009 | T | TA | 20 | a0001c0001t0002g0023 a0001c0001t0004g0107 a0001c0001t0004g0108 others(17): Show |
20 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(17): Show |
intron_variant | MODIFIER | c.2136-2819dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120172009 | ||||||
| chr2:120172029 | C | CAAGG | 146 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0002 others(143): Show |
146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.2136-2809_2136-280 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120172029 | ||||||
| chr2:120172200 | T | G | 5 | a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 others(2): Show |
5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2136-2641T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172200 | |||||||
| chr2:120172258 | C | T | 111 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 others(108): Show |
111 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.2136-2583C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172258 | |||||||
| chr2:120172532 | T | G | 2 | a0001c0001t0009g0137 a0001c0001t0009g0138 |
2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2136-2309T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172532 | |||||||
| chr2:120172692 | A | G | 2 | a0001c0001t0004g0107 a0001c0001t0004g0108 |
2 | HG00738.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.2136-2149A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172692 | |||||||
| chr2:120172769 | A | G | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2136-2072A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172769 | |||||||
| chr2:120172892 | T | C | 2 | a0001c0001t0002g0054 a0001c0001t0002g0056 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2136-1949T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172892 | |||||||
| chr2:120172911 | C | T | 4 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show |
4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.2136-1930C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172911 | |||||||
| chr2:120173016 | C | T | 7 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(4): Show |
7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2136-1825C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173016 | |||||||
| chr2:120173066 | A | C | 9 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0005g0150 others(6): Show |
9 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(6): Show |
intron_variant | MODIFIER | c.2136-1775A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173066 | |||||||
| chr2:120173252 | TAAG | T | 4 | a0002c0002t0001g0224 a0002c0002t0001g0263 a0002c0002t0001g0272 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.2136-1585_2136-158 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120173252 | ||||||
| chr2:120173389 | G | A | 1 | a0001c0001t0002g0016 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2136-1452G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173389 | |||||||
| chr2:120173390 | A | G | 36 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0113 others(33): Show |
36 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.2136-1451A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173390 | |||||||
| chr2:120173392 | A | T | 1 | a0002c0002t0001g0253 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2136-1449A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173392 | |||||||
| chr2:120173440 | C | T | 36 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0113 others(33): Show |
36 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.2136-1401C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173440 | |||||||
| chr2:120173920 | G | A | 1 | a0001c0001t0003g0082 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2136-921G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173920 | |||||||
| chr2:120174051 | A | G | 22 | a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 others(19): Show |
22 | HG00735.hp1 HG01243.hp2 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2136-790A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174051 | |||||||
| chr2:120174104 | G | A | 2 | a0001c0001t0005g0150 a0001c0001t0005g0151 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.2136-737G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174104 | |||||||
| chr2:120174247 | G | A | 1 | a0002c0002t0001g0147 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2136-594G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174247 | |||||||
| chr2:120174302 | C | G | 1 | a0001c0001t0002g0029 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2136-539C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174302 | |||||||
| chr2:120174468 | G | GA | 129 | a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 others(126): Show |
129 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.2136-362dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120174468 | ||||||
| chr2:120174601 | T | G | 9 | a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 others(6): Show |
9 | HG00639.hp1 HG01069.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.2136-240T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174601 | |||||||
| chr2:120174798 | ACCCCAGG others(5): Show |
A | 1 | a0001c0001t0002g0046 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.2136-40_2136-29del others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120174798 |