Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 7957 |
| ensemblid | ENSG00000112425.16 |
| hgncid | 3413 |
| symbol | EPM2A |
| name | EPM2A glucan phosphatase, laforin |
| refseq_nuc | NM_005670.4 |
| refseq_prot | NP_005661.1 |
| ensembl_nuc | ENST00000367519.9 |
| ensembl_prot | ENSP00000356489.3 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 145625305 |
| end | 145735520 |
| strand | - |
| ver | v1.2 |
| region | chr6:145625305-145735520 |
| region5000 | chr6:145620305-145740520 |
| regionname0 | EPM2A_chr6_145625305_145735520 |
| regionname5000 | EPM2A_chr6_145620305_145740520 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 331 | 311 | 86 | 43 | 138 | 10 | 32 | 106 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0002 | 0/0 | 331 | 3 | 1 | 0 | 0 | 1 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0003 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0004 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0005 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0006 | 0/0 | 95 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(90): Show |
chr6 | 145620305 | 145740520 |
| a0007 | 0/0 | 331 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| a0008 | 0/0 | 331 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | MRFRF others(326): Show |
chr6 | 145620305 | 145740520 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 993 | 178 | 63 | 17 | 87 | 4 | 7 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0001c0002 | 1/1 | 993 | 112 | 19 | 15 | 51 | 6 | 19 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0001c0003 | 0/0 | 993 | 17 | 0 | 11 | 0 | 0 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0001c0004 | 0/0 | 993 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0002c0005 | 0/0 | 993 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0003c0007 | 0/0 | 993 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0004c0008 | 0/0 | 993 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0005c0010 | 0/0 | 993 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0006c0006 | 0/0 | 961 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(956): Show |
chr6 | 145620305 | 145740520 | ||
| a0007c0009 | 0/0 | 993 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 | ||
| a0008c0011 | 0/0 | 993 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | ATGCG others(988): Show |
chr6 | 145620305 | 145740520 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3129 | 128 | 30 | 11 | 78 | 3 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0003 | 0/0 | 3129 | 29 | 27 | 2 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0004 | 0/0 | 3129 | 5 | 4 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0005 | 0/0 | 3134 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3129): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0007 | 0/0 | 3129 | 3 | 0 | 2 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0008 | 0/0 | 3129 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0009 | 0/0 | 3129 | 2 | 1 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0010 | 0/0 | 3129 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0011 | 0/0 | 3134 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3129): Show |
chr6 | 145620305 | 145740520 |
| a0001c0001t0014 | 0/0 | 3129 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0002t0001 | 1/0 | 3129 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0002t0002 | 0/1 | 3129 | 108 | 18 | 14 | 50 | 6 | 19 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0002t0012 | 0/0 | 3129 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0002t0013 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0002t0016 | 0/0 | 3129 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0003t0001 | 0/0 | 3129 | 17 | 0 | 11 | 0 | 0 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0001c0004t0006 | 0/0 | 3129 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0002c0005t0002 | 0/0 | 3129 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0003c0007t0002 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0004c0008t0002 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0005c0010t0001 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0006c0006t0015 | 0/0 | 3097 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3092): Show |
chr6 | 145620305 | 145740520 |
| a0007c0009t0003 | 0/0 | 3129 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| a0008c0011t0001 | 0/0 | 3129 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | ATTCG others(3124): Show |
chr6 | 145620305 | 145740520 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0009 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0020 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0022 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0023 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0024 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0012 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0005g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0005g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0005g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0005g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0005g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0008g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0008g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0009g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0009g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0010g0021 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0011g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0014g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0001g0105 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0001 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0002 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0015 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0017 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0018 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0019 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0093 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0012g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0013g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0016g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0004 | 0/0 | 4 | 0 | 2 | 0 | 0 | 2 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0004t0006g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0004t0006g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0004t0006g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0004t0006g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0005t0002g0005 | 0/0 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0003c0007t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0004c0008t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0005c0010t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0006c0006t0015g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0007c0009t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0008c0011t0001g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0087 | EUR | FIN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00280 | hp2 | a0001 | c0001 | t0007 | g0168 | EUR | FIN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00438 | hp1 | a0001 | c0001 | t0010 | g0021 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0259 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00558 | hp1 | a0001 | c0001 | t0014 | g0208 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00609 | hp2 | a0001 | c0002 | t0002 | g0076 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0257 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00639 | hp1 | a0003 | c0007 | t0002 | g0115 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0215 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00642 | hp1 | a0001 | c0003 | t0001 | g0198 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00642 | hp2 | a0001 | c0002 | t0002 | g0133 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00735 | hp1 | a0001 | c0003 | t0001 | g0244 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00735 | hp2 | a0001 | c0002 | t0002 | g0131 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00738 | hp1 | a0001 | c0002 | t0013 | g0081 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0196 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00741 | hp2 | a0001 | c0002 | t0002 | g0128 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01069 | hp1 | a0001 | c0003 | t0001 | g0248 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01070 | hp1 | a0001 | c0002 | t0002 | g0094 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01070 | hp2 | a0001 | c0003 | t0001 | g0245 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0017 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01074 | hp2 | a0001 | c0002 | t0002 | g0141 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01081 | hp1 | a0001 | c0001 | t0008 | g0056 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01081 | hp2 | a0001 | c0001 | t0003 | g0012 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01099 | hp1 | a0001 | c0002 | t0002 | g0082 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01099 | hp2 | a0001 | c0001 | t0007 | g0167 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0112 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01109 | hp2 | a0004 | c0008 | t0002 | g0130 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01169 | hp1 | a0001 | c0003 | t0001 | g0192 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01169 | hp2 | a0001 | c0003 | t0001 | g0004 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01192 | hp1 | a0001 | c0002 | t0002 | g0129 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0255 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01255 | hp1 | a0001 | c0003 | t0001 | g0231 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01255 | hp2 | a0001 | c0002 | t0002 | g0069 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01257 | hp1 | a0001 | c0002 | t0002 | g0083 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01257 | hp2 | a0001 | c0003 | t0001 | g0251 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01346 | hp1 | a0005 | c0010 | t0001 | g0222 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01346 | hp2 | a0001 | c0002 | t0002 | g0100 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0194 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01361 | hp2 | a0001 | c0001 | t0007 | g0173 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01433 | hp1 | a0001 | c0003 | t0001 | g0004 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01433 | hp2 | a0001 | c0001 | t0004 | g0030 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01515 | hp1 | a0001 | c0002 | t0002 | g0018 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01515 | hp2 | a0006 | c0006 | t0015 | g0058 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0217 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01516 | hp2 | a0002 | c0005 | t0002 | g0005 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01517 | hp1 | a0001 | c0002 | t0002 | g0018 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0224 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01884 | hp1 | a0001 | c0001 | t0003 | g0012 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01884 | hp2 | a0001 | c0002 | t0002 | g0123 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01978 | hp2 | a0001 | c0003 | t0001 | g0247 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0250 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0024 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01993 | hp1 | a0001 | c0002 | t0002 | g0090 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0256 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02015 | hp1 | a0001 | c0002 | t0002 | g0015 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02055 | hp1 | a0001 | c0002 | t0012 | g0114 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02055 | hp2 | a0001 | c0001 | t0003 | g0034 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02056 | hp2 | a0001 | c0002 | t0002 | g0075 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0268 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02132 | hp1 | a0001 | c0002 | t0002 | g0072 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0239 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02135 | hp2 | a0001 | c0001 | t0005 | g0274 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02145 | hp1 | a0001 | c0001 | t0009 | g0143 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02145 | hp2 | a0001 | c0004 | t0006 | g0179 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02155 | hp1 | a0001 | c0001 | t0005 | g0276 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02165 | hp2 | a0001 | c0002 | t0002 | g0117 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02257 | hp2 | a0002 | c0005 | t0002 | g0005 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02258 | hp1 | a0007 | c0009 | t0003 | g0029 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0166 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0185 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02273 | hp2 | a0001 | c0003 | t0001 | g0202 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02451 | hp1 | a0001 | c0001 | t0008 | g0057 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0032 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02572 | hp2 | a0001 | c0002 | t0002 | g0061 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02615 | hp1 | a0001 | c0002 | t0002 | g0135 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02622 | hp1 | a0001 | c0002 | t0002 | g0140 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02630 | hp1 | a0001 | c0001 | t0003 | g0037 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0145 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02647 | hp2 | a0001 | c0002 | t0002 | g0104 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0195 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02683 | hp2 | a0001 | c0002 | t0002 | g0124 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0041 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0144 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0153 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0040 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02735 | hp1 | a0001 | c0003 | t0001 | g0246 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02735 | hp2 | a0001 | c0002 | t0002 | g0071 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02809 | hp1 | a0001 | c0001 | t0004 | g0055 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0152 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02818 | hp2 | a0001 | c0001 | t0003 | g0042 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0011 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02895 | hp2 | a0001 | c0002 | t0002 | g0016 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02896 | hp1 | a0001 | c0001 | t0003 | g0010 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02896 | hp2 | a0001 | c0002 | t0002 | g0016 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02897 | hp1 | a0001 | c0001 | t0003 | g0011 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02897 | hp2 | a0001 | c0001 | t0003 | g0010 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0163 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02965 | hp2 | a0001 | c0002 | t0002 | g0137 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0050 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02970 | hp2 | a0001 | c0001 | t0003 | g0044 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02976 | hp1 | a0001 | c0001 | t0003 | g0013 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02976 | hp2 | a0001 | c0002 | t0002 | g0134 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03017 | hp1 | a0001 | c0003 | t0001 | g0204 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03017 | hp2 | a0001 | c0002 | t0002 | g0119 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03041 | hp1 | a0001 | c0004 | t0006 | g0178 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0045 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03098 | hp2 | a0001 | c0001 | t0003 | g0054 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0164 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0146 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0150 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03195 | hp2 | a0001 | c0001 | t0004 | g0033 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0136 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03209 | hp2 | a0001 | c0004 | t0006 | g0177 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03225 | hp2 | a0001 | c0001 | t0003 | g0049 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03239 | hp1 | a0001 | c0002 | t0002 | g0106 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03453 | hp1 | a0001 | c0002 | t0002 | g0139 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03453 | hp2 | a0001 | c0001 | t0004 | g0031 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03486 | hp1 | a0001 | c0001 | t0003 | g0047 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03486 | hp2 | a0001 | c0004 | t0006 | g0176 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03491 | hp1 | a0001 | c0003 | t0001 | g0004 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03491 | hp2 | a0001 | c0002 | t0002 | g0015 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03492 | hp1 | a0001 | c0003 | t0001 | g0004 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03492 | hp2 | a0001 | c0002 | t0002 | g0065 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03516 | hp2 | a0001 | c0002 | t0002 | g0103 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03540 | hp2 | a0001 | c0002 | t0002 | g0059 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0232 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03579 | hp2 | a0001 | c0001 | t0003 | g0048 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03654 | hp1 | a0001 | c0001 | t0009 | g0142 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03654 | hp2 | a0001 | c0002 | t0002 | g0070 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03669 | hp1 | a0001 | c0002 | t0002 | g0120 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0216 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03704 | hp1 | a0001 | c0002 | t0002 | g0019 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0095 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0190 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03834 | hp2 | a0001 | c0002 | t0002 | g0099 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03927 | hp1 | a0001 | c0002 | t0002 | g0125 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03927 | hp2 | a0001 | c0002 | t0002 | g0084 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03942 | hp1 | a0002 | c0005 | t0002 | g0005 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0193 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0108 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04115 | hp2 | a0001 | c0003 | t0001 | g0197 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04199 | hp1 | a0001 | c0002 | t0002 | g0122 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04199 | hp2 | a0008 | c0011 | t0001 | g0277 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04204 | hp1 | a0001 | c0002 | t0002 | g0098 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04204 | hp2 | a0001 | c0002 | t0002 | g0060 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04228 | hp1 | a0001 | c0003 | t0001 | g0203 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04228 | hp2 | a0001 | c0002 | t0002 | g0097 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0270 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18612 | hp2 | a0001 | c0001 | t0010 | g0021 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0036 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0233 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18939 | hp1 | a0001 | c0002 | t0002 | g0092 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18942 | hp1 | a0001 | c0002 | t0002 | g0007 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18943 | hp1 | a0001 | c0002 | t0002 | g0096 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18948 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18950 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18952 | hp1 | a0001 | c0002 | t0002 | g0079 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18953 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18956 | hp2 | a0001 | c0002 | t0002 | g0101 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0260 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18959 | hp2 | a0001 | c0002 | t0016 | g0063 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18960 | hp1 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18963 | hp2 | a0001 | c0001 | t0005 | g0273 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0262 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18964 | hp2 | a0001 | c0002 | t0002 | g0107 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18966 | hp1 | a0001 | c0002 | t0002 | g0110 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18968 | hp1 | a0001 | c0002 | t0002 | g0007 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18970 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18973 | hp1 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18977 | hp1 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18979 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0261 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18982 | hp2 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18984 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18988 | hp1 | a0001 | c0002 | t0002 | g0014 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18990 | hp2 | a0001 | c0002 | t0002 | g0086 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18998 | hp1 | a0001 | c0002 | t0002 | g0067 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19000 | hp1 | a0001 | c0002 | t0002 | g0014 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19001 | hp2 | a0001 | c0002 | t0002 | g0074 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19002 | hp2 | a0001 | c0001 | t0005 | g0275 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19003 | hp1 | a0001 | c0001 | t0011 | g0272 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19007 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19009 | hp2 | a0001 | c0002 | t0002 | g0077 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19010 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19011 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0102 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19030 | hp2 | a0001 | c0001 | t0003 | g0052 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19043 | hp2 | a0001 | c0001 | t0003 | g0046 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19056 | hp1 | a0001 | c0002 | t0002 | g0118 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19058 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19060 | hp2 | a0001 | c0002 | t0002 | g0062 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19064 | hp2 | a0001 | c0002 | t0002 | g0068 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19065 | hp1 | a0001 | c0002 | t0002 | g0007 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0263 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19066 | hp2 | a0001 | c0002 | t0002 | g0066 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19070 | hp1 | a0001 | c0002 | t0002 | g0078 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19072 | hp1 | a0001 | c0002 | t0002 | g0088 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0269 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19076 | hp2 | a0001 | c0002 | t0002 | g0073 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19077 | hp1 | a0001 | c0002 | t0002 | g0064 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19079 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19081 | hp1 | a0001 | c0001 | t0005 | g0271 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19081 | hp2 | a0001 | c0002 | t0002 | g0085 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19082 | hp1 | a0001 | c0002 | t0002 | g0008 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19084 | hp1 | a0001 | c0002 | t0002 | g0080 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19084 | hp2 | a0001 | c0002 | t0002 | g0127 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19087 | hp1 | a0001 | c0002 | t0002 | g0109 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19088 | hp1 | a0001 | c0002 | t0002 | g0126 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19091 | hp2 | a0001 | c0002 | t0002 | g0121 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19240 | hp1 | a0001 | c0002 | t0002 | g0138 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19240 | hp2 | a0001 | c0001 | t0004 | g0035 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0039 | AFR | ASW | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0111 | AFR | ASW | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20752 | hp1 | a0001 | c0002 | t0002 | g0132 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0221 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20805 | hp1 | a0001 | c0002 | t0002 | g0019 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20805 | hp2 | a0001 | c0002 | t0002 | g0116 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0212 | SAS | GIH | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20905 | hp2 | a0001 | c0002 | t0002 | g0017 | SAS | GIH | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01123 | hp1 | a0001 | c0002 | t0002 | g0089 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01123 | hp2 | a0001 | c0001 | t0003 | g0038 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0113 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0013 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0267 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02486 | hp2 | a0001 | c0001 | t0003 | g0051 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02559 | hp1 | a0001 | c0001 | t0003 | g0053 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0172 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG06807 | hp1 | a0001 | c0001 | t0003 | g0043 | AFR | USA | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | USA | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0169 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA21309 | hp2 | a0001 | c0002 | t0002 | g0091 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| homoSapiens | chm13v2 | a0001 | c0002 | t0002 | g0093 | REF | REF | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0105 | REF | REF | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:145627604 | C | A | 1 | a0003 | 1 | HG00639.hp1 | missense_variant | MODERATE | c.808G>T | p.Val270Leu | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 830/3129 | 808/996 | 270/331 | chr6 | 145627604 | |||
| chr6:145635283 | G | A | 1 | a0004 | 1 | HG01109.hp2 | missense_variant | MODERATE | c.680C>T | p.Ala227Val | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/4 | 702/3129 | 680/996 | 227/331 | chr6 | 145635283 | |||
| chr6:145686222 | T | C | 1 | a0005 | 1 | HG01346.hp1 | missense_variant | MODERATE | c.376A>G | p.Ile126Val | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/4 | 398/3129 | 376/996 | 126/331 | chr6 | 145686222 | |||
| chr6:145735264 | C | G | 1 | a0007 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.235G>C | p.Gly79Arg | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 257/3129 | 235/996 | 79/331 | chr6 | 145735264 | |||
| chr6:145735318 | G | C | 1 | a0008 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.181C>G | p.Leu61Val | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 203/3129 | 181/996 | 61/331 | chr6 | 145735318 | |||
| chr6:145735336 | G | T | 1 | a0002 | 3 | HG01516.hp2 HG02257.hp2 HG03942.hp1 |
missense_variant | MODERATE | c.163C>A | p.Gln55Lys | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 185/3129 | 163/996 | 55/331 | chr6 | 145735336 | |||
| chr6:145735359 | GCCGCGGT others(25): Show |
G | 1 | a0006 | 1 | HG01515.hp2 | frameshift_variant | HIGH | c.108_139delTGCCGTCC others(24): Show |
p.Ala37fs | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 161/3129 | 108/996 | 36/331 | chr6 | 145735359 | |||
| chr6:145735363 | C | G | 1 | a0001 | 6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
missense_variant | MODERATE | c.136G>C | p.Ala46Pro | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 158/3129 | 136/996 | 46/331 | chr6 | 145735363 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:145627509 | C | G | 1 | a0001c0004 | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
synonymous_variant | LOW | c.903G>C | p.Pro301Pro | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 925/3129 | 903/996 | 301/331 | chr6 | 145627509 | |||
| chr6:145686196 | C | T | 2 | a0001c0003 a0006c0006 |
18 | HG00642.hp1 HG00735.hp1 HG01069.hp1 others(15): Show |
synonymous_variant | LOW | c.402G>A | p.Gly134Gly | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/4 | 424/3129 | 402/996 | 134/331 | chr6 | 145686196 | |||
| chr6:145735340 | G | C | 7 | a0001c0001 a0001c0003 a0001c0004 others(4): Show |
203 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(200): Show |
synonymous_variant | LOW | c.159C>G | p.Ala53Ala | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 181/3129 | 159/996 | 53/331 | chr6 | 145735340 | |||
| chr6:145735388 | G | C | 1 | a0001c0002 | 1 | HG02056.hp2 | synonymous_variant | LOW | c.111C>G | p.Ala37Ala | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 133/3129 | 111/996 | 37/331 | chr6 | 145735388 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:145625354 | C | T | 1 | a0001c0001t0014 | 1 | HG00558.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2062G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 2062 | chr6 | 145625354 | ||||||
| chr6:145625446 | A | G | 1 | a0001c0001t0009 | 2 | HG02145.hp1 HG03654.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1970T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1970 | chr6 | 145625446 | ||||||
| chr6:145625628 | T | G | 1 | a0006c0006t0015 | 1 | HG01515.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1788A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1788 | chr6 | 145625628 | ||||||
| chr6:145625777 | G | A | 6 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show |
42 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*1639C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1639 | chr6 | 145625777 | ||||||
| chr6:145625826 | G | A | 1 | a0001c0001t0008 | 2 | HG01081.hp1 HG02451.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1590C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1590 | chr6 | 145625826 | ||||||
| chr6:145625944 | C | T | 15 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(12): Show |
164 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(161): Show |
3_prime_UTR_variant | MODIFIER | c.*1472G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1472 | chr6 | 145625944 | ||||||
| chr6:145626256 | T | A | 1 | a0001c0001t0009 | 2 | HG02145.hp1 HG03654.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1160A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1160 | chr6 | 145626256 | ||||||
| chr6:145626308 | A | G | 1 | a0001c0002t0013 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1108T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1108 | chr6 | 145626308 | ||||||
| chr6:145626412 | C | T | 1 | a0001c0001t0007 | 3 | HG00280.hp2 HG01099.hp2 HG01361.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1004G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 1004 | chr6 | 145626412 | ||||||
| chr6:145626456 | G | T | 1 | a0001c0001t0004 | 5 | HG01433.hp2 HG02809.hp1 HG03195.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*960C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 960 | chr6 | 145626456 | ||||||
| chr6:145626488 | G | A | 1 | a0001c0001t0004 | 5 | HG01433.hp2 HG02809.hp1 HG03195.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*928C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 928 | chr6 | 145626488 | ||||||
| chr6:145626578 | C | CTGGGA | 2 | a0001c0001t0005 a0001c0001t0011 |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*837_*838insTCCCA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 837 | chr6 | 145626578 | ||||||
| chr6:145626668 | A | T | 2 | a0001c0001t0005 a0001c0001t0011 |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*748T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 748 | chr6 | 145626668 | ||||||
| chr6:145626944 | G | A | 1 | a0001c0001t0010 | 2 | HG00438.hp1 NA18612.hp2 |
3_prime_UTR_variant | MODIFIER | c.*472C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 472 | chr6 | 145626944 | ||||||
| chr6:145626992 | C | G | 2 | a0001c0001t0005 a0001c0001t0011 |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*424G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 424 | chr6 | 145626992 | ||||||
| chr6:145627048 | C | T | 1 | a0001c0001t0009 | 2 | HG02145.hp1 HG03654.hp1 |
3_prime_UTR_variant | MODIFIER | c.*368G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 368 | chr6 | 145627048 | ||||||
| chr6:145627154 | G | A | 1 | a0001c0002t0016 | 1 | NA18959.hp2 | 3_prime_UTR_variant | MODIFIER | c.*262C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 262 | chr6 | 145627154 | ||||||
| chr6:145627253 | A | C | 5 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(2): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*163T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 163 | chr6 | 145627253 | ||||||
| chr6:145627362 | C | T | 1 | a0001c0001t0011 | 1 | NA19003.hp1 | 3_prime_UTR_variant | MODIFIER | c.*54G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 4/4 | 54 | chr6 | 145627362 | ||||||
| chr6:145735513 | G | T | 4 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show |
37 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
5_prime_UTR_variant | MODIFIER | c.-15C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 15 | chr6 | 145735513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:145627994 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.719-301C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145627994 | |||||||
| chr6:145628017 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.719-324T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628017 | |||||||
| chr6:145628059 | C | CA | 9 | a0001c0001t0001g0020 a0001c0001t0001g0144 a0001c0001t0001g0145 others(6): Show |
10 | HG01891.hp2 HG02040.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.719-367dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628059 | |||||||
| chr6:145628153 | A | G | 2 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.719-460T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628153 | |||||||
| chr6:145628268 | T | A | 145 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(142): Show |
171 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(168): Show |
intron_variant | MODIFIER | c.719-575A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628268 | |||||||
| chr6:145628418 | T | G | 15 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(12): Show |
16 | HG01081.hp1 HG01433.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.719-725A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628418 | |||||||
| chr6:145628462 | G | A | 1 | a0001c0001t0001g0253 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.719-769C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628462 | |||||||
| chr6:145628630 | A | AGGGGGGG others(17): Show |
1 | a0003c0007t0002g0115 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.719-938_719-937ins others(24): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628630 | |||||||
| chr6:145628708 | T | C | 143 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(140): Show |
169 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(166): Show |
intron_variant | MODIFIER | c.719-1015A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628708 | |||||||
| chr6:145628756 | G | C | 1 | a0001c0001t0001g0254 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.719-1063C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628756 | |||||||
| chr6:145628844 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.719-1151G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628844 | |||||||
| chr6:145628954 | G | A | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.719-1261C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628954 | |||||||
| chr6:145628976 | C | G | 92 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(89): Show |
114 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(111): Show |
intron_variant | MODIFIER | c.719-1283G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145628976 | |||||||
| chr6:145629147 | G | A | 1 | a0001c0002t0002g0103 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.719-1454C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629147 | |||||||
| chr6:145629210 | C | T | 3 | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 |
3 | HG02965.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.719-1517G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629210 | |||||||
| chr6:145629555 | C | G | 1 | a0001c0001t0003g0032 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.719-1862G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629555 | |||||||
| chr6:145629777 | G | T | 1 | a0001c0002t0002g0096 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.719-2084C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629777 | |||||||
| chr6:145629848 | A | G | 41 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(38): Show |
45 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(42): Show |
intron_variant | MODIFIER | c.719-2155T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629848 | |||||||
| chr6:145629904 | G | A | 3 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 |
3 | NA18960.hp2 NA18998.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.719-2211C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629904 | |||||||
| chr6:145629914 | A | T | 1 | a0001c0002t0002g0108 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.719-2221T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145629914 | |||||||
| chr6:145630054 | C | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.719-2361G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630054 | |||||||
| chr6:145630059 | T | G | 1 | a0001c0001t0001g0189 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.719-2366A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630059 | |||||||
| chr6:145630119 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.719-2426C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630119 | |||||||
| chr6:145630158 | A | G | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.719-2465T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630158 | |||||||
| chr6:145630340 | C | T | 4 | a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show |
5 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.719-2647G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630340 | |||||||
| chr6:145630456 | TA | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.719-2764delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630456 | |||||||
| chr6:145630482 | G | T | 3 | a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0173 |
3 | HG00280.hp2 HG01099.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.719-2789C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630482 | |||||||
| chr6:145630614 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.719-2921T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630614 | |||||||
| chr6:145630697 | T | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.719-3004A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630697 | |||||||
| chr6:145630779 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.719-3086G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145630779 | |||||||
| chr6:145631039 | T | C | 1 | a0001c0001t0001g0213 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.719-3346A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631039 | |||||||
| chr6:145631147 | G | A | 88 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(85): Show |
110 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.719-3454C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631147 | |||||||
| chr6:145631264 | A | G | 2 | a0001c0002t0002g0061 a0001c0002t0002g0139 |
2 | HG02572.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.719-3571T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631264 | |||||||
| chr6:145631280 | G | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.719-3587C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631280 | |||||||
| chr6:145631541 | T | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.718+3704A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631541 | |||||||
| chr6:145631559 | G | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.718+3686C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631559 | |||||||
| chr6:145631685 | T | C | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.718+3560A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631685 | |||||||
| chr6:145631705 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.718+3540C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631705 | |||||||
| chr6:145631848 | T | TTC | 9 | a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0052 others(6): Show |
9 | HG02055.hp2 HG02145.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.718+3395_718+3396d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631848 | |||||||
| chr6:145631848 | T | TTCTCTCT others(1): Show |
9 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(6): Show |
12 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.718+3389_718+3396d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631848 | |||||||
| chr6:145631848 | T | TTCTCTCT others(3): Show |
4 | a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0048 others(1): Show |
4 | HG02486.hp2 HG02970.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.718+3387_718+3396d others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631848 | |||||||
| chr6:145631866 | C | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.718+3379G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631866 | |||||||
| chr6:145631869 | TCTCACA | T | 3 | a0001c0002t0002g0117 a0001c0002t0013g0081 a0004c0008t0002g0130 |
3 | HG00738.hp1 HG01109.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.718+3370_718+3375d others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631869 | |||||||
| chr6:145631869 | TCTCACAC others(1): Show |
T | 81 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(78): Show |
101 | HG00280.hp1 HG00609.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.718+3368_718+3375d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631869 | |||||||
| chr6:145631869 | TCTCACAC others(3): Show |
T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.718+3366_718+3375d others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631869 | |||||||
| chr6:145631869 | TCTCACAC others(5): Show |
T | 1 | a0001c0002t0002g0002 | 2 | NA18984.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.718+3364_718+3375d others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631869 | |||||||
| chr6:145631871 | T | A | 3 | a0001c0001t0001g0028 a0001c0001t0001g0260 a0001c0001t0001g0265 |
3 | HG00544.hp2 HG02809.hp2 NA18959.hp1 |
intron_variant | MODIFIER | c.718+3374A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631871 | T | TCA | 8 | a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0193 others(5): Show |
8 | HG00642.hp1 HG01070.hp2 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.718+3372_718+3373d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631871 | TCA | T | 14 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0150 others(11): Show |
16 | HG00741.hp1 HG01081.hp1 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.718+3372_718+3373d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631871 | TCACA | T | 6 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(3): Show |
6 | HG01993.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.718+3370_718+3373d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631871 | TCACACA | T | 7 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(4): Show |
7 | HG02135.hp2 HG02155.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.718+3368_718+3373d others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631871 | TCACACAC others(1): Show |
T | 3 | a0001c0002t0002g0119 a0001c0002t0002g0139 a0003c0007t0002g0115 |
3 | HG00639.hp1 HG03017.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.718+3366_718+3373d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631871 | |||||||
| chr6:145631873 | A | T | 33 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0003g0010 others(30): Show |
37 | HG01069.hp2 HG01081.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.718+3372T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631873 | |||||||
| chr6:145631875 | A | T | 14 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0166 others(11): Show |
14 | HG01081.hp1 HG01891.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.718+3370T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631875 | |||||||
| chr6:145631877 | A | T | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.718+3368T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631877 | |||||||
| chr6:145631947 | G | T | 38 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(35): Show |
42 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(39): Show |
intron_variant | MODIFIER | c.718+3298C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145631947 | |||||||
| chr6:145632202 | T | A | 132 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(129): Show |
158 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(155): Show |
intron_variant | MODIFIER | c.718+3043A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632202 | |||||||
| chr6:145632203 | A | C | 132 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(129): Show |
158 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(155): Show |
intron_variant | MODIFIER | c.718+3042T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632203 | |||||||
| chr6:145632371 | T | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.718+2874A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632371 | |||||||
| chr6:145632539 | T | A | 152 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(149): Show |
181 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(178): Show |
intron_variant | MODIFIER | c.718+2706A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632539 | |||||||
| chr6:145632857 | T | A | 1 | a0001c0002t0002g0100 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.718+2388A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632857 | |||||||
| chr6:145632861 | C | A | 1 | a0001c0003t0001g0248 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.718+2384G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632861 | |||||||
| chr6:145632954 | A | G | 132 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(129): Show |
158 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(155): Show |
intron_variant | MODIFIER | c.718+2291T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632954 | |||||||
| chr6:145632983 | T | C | 1 | a0001c0001t0001g0171 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.718+2262A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632983 | |||||||
| chr6:145633004 | G | A | 35 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(32): Show |
39 | HG00642.hp1 HG01081.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.718+2241C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145633004 | |||||||
| chr6:145633672 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.718+1573C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145633672 | |||||||
| chr6:145633718 | T | C | 90 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(87): Show |
112 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(109): Show |
intron_variant | MODIFIER | c.718+1527A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145633718 | |||||||
| chr6:145633899 | G | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.718+1346C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145633899 | |||||||
| chr6:145633906 | C | T | 1 | a0001c0001t0001g0165 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.718+1339G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145633906 | |||||||
| chr6:145634169 | T | C | 143 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(140): Show |
169 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(166): Show |
intron_variant | MODIFIER | c.718+1076A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634169 | |||||||
| chr6:145634293 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.718+952T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634293 | |||||||
| chr6:145634306 | T | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
39 | HG01081.hp2 HG01123.hp2 HG01433.hp2 others(36): Show |
intron_variant | MODIFIER | c.718+939A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634306 | |||||||
| chr6:145634382 | T | C | 1 | a0001c0002t0002g0085 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.718+863A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634382 | |||||||
| chr6:145634469 | C | T | 65 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(62): Show |
82 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.718+776G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634469 | |||||||
| chr6:145634537 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.718+708C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634537 | |||||||
| chr6:145634551 | G | C | 92 | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(89): Show |
114 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(111): Show |
intron_variant | MODIFIER | c.718+694C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634551 | |||||||
| chr6:145634707 | A | C | 19 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(16): Show |
24 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.718+538T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634707 | |||||||
| chr6:145634735 | T | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.718+510A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634735 | |||||||
| chr6:145634750 | T | A | 9 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 others(6): Show |
9 | HG00639.hp2 HG00738.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.718+495A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634750 | |||||||
| chr6:145634882 | T | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.718+363A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634882 | |||||||
| chr6:145635074 | A | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.718+171T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145635074 | |||||||
| chr6:145635157 | T | C | 1 | a0001c0001t0001g0186 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.718+88A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145635157 | |||||||
| chr6:145635179 | TAGAC | T | 9 | a0001c0001t0001g0022 a0001c0001t0001g0152 a0001c0001t0001g0153 others(6): Show |
10 | HG02145.hp1 HG02723.hp1 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.718+62_718+65delGT others(2): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145635179 | |||||||
| chr6:145635610 | T | G | 1 | a0001c0002t0002g0065 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.477-124A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635610 | |||||||
| chr6:145635657 | G | C | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.477-171C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635657 | |||||||
| chr6:145635701 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.477-215G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635701 | |||||||
| chr6:145635916 | C | T | 138 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(135): Show |
164 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(161): Show |
intron_variant | MODIFIER | c.477-430G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635916 | |||||||
| chr6:145635928 | A | C | 38 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(35): Show |
42 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(39): Show |
intron_variant | MODIFIER | c.477-442T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635928 | |||||||
| chr6:145635979 | G | A | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.477-493C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145635979 | |||||||
| chr6:145636346 | G | A | 8 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0186 others(5): Show |
10 | NA18747.hp1 NA18939.hp2 NA18950.hp2 others(7): Show |
intron_variant | MODIFIER | c.477-860C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636346 | |||||||
| chr6:145636417 | G | A | 1 | a0001c0002t0002g0094 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.477-931C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636417 | |||||||
| chr6:145636475 | A | C | 3 | a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0110 |
3 | HG00609.hp2 NA18966.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.477-989T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636475 | |||||||
| chr6:145636601 | T | C | 1 | a0001c0001t0001g0020 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.477-1115A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636601 | |||||||
| chr6:145636634 | C | A | 1 | a0001c0002t0002g0108 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.477-1148G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636634 | |||||||
| chr6:145636647 | T | TG | 40 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(37): Show |
44 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(41): Show |
intron_variant | MODIFIER | c.477-1162dupC | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636647 | |||||||
| chr6:145636695 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-1209C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636695 | |||||||
| chr6:145636923 | G | GA | 24 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 others(21): Show |
29 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(26): Show |
intron_variant | MODIFIER | c.477-1438dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636923 | |||||||
| chr6:145636923 | GA | G | 8 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0152 others(5): Show |
8 | HG02145.hp1 HG02630.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.477-1438delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636923 | |||||||
| chr6:145636939 | T | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-1453A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636939 | |||||||
| chr6:145636940 | TA | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-1455delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636940 | |||||||
| chr6:145636941 | A | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-1455T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636941 | |||||||
| chr6:145636959 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-1473C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145636959 | |||||||
| chr6:145637135 | C | T | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.477-1649G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637135 | |||||||
| chr6:145637280 | T | C | 1 | a0001c0001t0001g0174 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.477-1794A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637280 | |||||||
| chr6:145637323 | G | A | 1 | a0001c0001t0001g0206 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.477-1837C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637323 | |||||||
| chr6:145637474 | T | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-1988A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637474 | |||||||
| chr6:145637485 | C | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-1999G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637485 | |||||||
| chr6:145637487 | A | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-2001T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637487 | |||||||
| chr6:145637493 | G | T | 1 | a0001c0001t0001g0201 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.477-2007C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637493 | |||||||
| chr6:145637499 | G | T | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.477-2013C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637499 | |||||||
| chr6:145637584 | T | C | 1 | a0001c0001t0001g0226 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.477-2098A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637584 | |||||||
| chr6:145637613 | G | A | 2 | a0001c0001t0001g0022 a0001c0001t0001g0165 |
3 | HG03098.hp1 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.477-2127C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637613 | |||||||
| chr6:145637756 | T | G | 3 | a0001c0002t0002g0015 a0001c0002t0002g0097 a0001c0002t0002g0099 |
4 | HG02015.hp1 HG03491.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-2270A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637756 | |||||||
| chr6:145637990 | G | T | 1 | a0001c0004t0006g0179 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.477-2504C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145637990 | |||||||
| chr6:145638345 | T | C | 145 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(142): Show |
171 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(168): Show |
intron_variant | MODIFIER | c.477-2859A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638345 | |||||||
| chr6:145638359 | T | C | 1 | a0001c0001t0003g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.477-2873A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638359 | |||||||
| chr6:145638596 | A | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-3110T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638596 | |||||||
| chr6:145638614 | C | T | 1 | a0001c0003t0001g0248 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.477-3128G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638614 | |||||||
| chr6:145638744 | CTG | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-3260_477-3259d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638744 | |||||||
| chr6:145638801 | G | T | 1 | a0001c0001t0003g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.477-3315C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638801 | |||||||
| chr6:145638850 | T | G | 5 | a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0033 others(2): Show |
5 | HG01433.hp2 HG02809.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.477-3364A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638850 | |||||||
| chr6:145638858 | GT | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-3373delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145638858 | |||||||
| chr6:145639187 | C | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-3701G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639187 | |||||||
| chr6:145639282 | G | A | 2 | a0001c0001t0003g0049 a0001c0001t0003g0051 |
2 | HG02486.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.477-3796C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639282 | |||||||
| chr6:145639391 | C | A | 1 | a0001c0002t0002g0072 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.477-3905G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639391 | |||||||
| chr6:145639571 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-4085A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639571 | |||||||
| chr6:145639651 | C | A | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-4165G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639651 | |||||||
| chr6:145639720 | A | G | 1 | a0001c0002t0002g0108 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.477-4234T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639720 | |||||||
| chr6:145639772 | C | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-4286G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145639772 | |||||||
| chr6:145640065 | C | T | 138 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(135): Show |
164 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(161): Show |
intron_variant | MODIFIER | c.477-4579G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640065 | |||||||
| chr6:145640234 | G | A | 1 | a0001c0002t0002g0068 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.477-4748C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640234 | |||||||
| chr6:145640473 | G | A | 1 | a0001c0004t0006g0176 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.477-4987C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640473 | |||||||
| chr6:145640642 | C | T | 1 | a0001c0002t0002g0072 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.477-5156G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640642 | |||||||
| chr6:145640654 | T | C | 2 | a0001c0002t0002g0116 a0003c0007t0002g0115 |
2 | HG00639.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.477-5168A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640654 | |||||||
| chr6:145640706 | G | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-5220C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640706 | |||||||
| chr6:145640820 | T | C | 1 | a0001c0003t0001g0203 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.477-5334A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145640820 | |||||||
| chr6:145641049 | A | C | 1 | a0001c0002t0002g0006 | 3 | NA18960.hp1 NA18973.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.477-5563T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641049 | |||||||
| chr6:145641057 | G | T | 93 | a0001c0001t0009g0142 a0001c0002t0002g0001 a0001c0002t0002g0002 others(90): Show |
115 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.477-5571C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641057 | |||||||
| chr6:145641167 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.477-5681A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641167 | |||||||
| chr6:145641336 | T | C | 1 | a0001c0001t0001g0170 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.477-5850A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641336 | |||||||
| chr6:145641374 | C | T | 1 | a0001c0001t0001g0241 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.477-5888G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641374 | |||||||
| chr6:145641639 | A | G | 4 | a0001c0002t0002g0008 a0001c0002t0002g0121 a0001c0002t0002g0126 others(1): Show |
6 | NA18948.hp1 NA18982.hp2 NA19082.hp1 others(3): Show |
intron_variant | MODIFIER | c.477-6153T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641639 | |||||||
| chr6:145641786 | T | C | 143 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(140): Show |
169 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(166): Show |
intron_variant | MODIFIER | c.477-6300A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641786 | |||||||
| chr6:145641860 | T | G | 15 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(12): Show |
16 | HG01081.hp1 HG01433.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.477-6374A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641860 | |||||||
| chr6:145641943 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-6457G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145641943 | |||||||
| chr6:145642083 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-6597T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642083 | |||||||
| chr6:145642166 | G | A | 1 | a0001c0002t0002g0060 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.477-6680C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642166 | |||||||
| chr6:145642515 | T | A | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-7029A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642515 | |||||||
| chr6:145642648 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-7162C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642648 | |||||||
| chr6:145642660 | A | G | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.477-7174T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642660 | |||||||
| chr6:145642671 | G | A | 1 | a0001c0002t0012g0114 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.477-7185C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642671 | |||||||
| chr6:145642791 | A | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.477-7305T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642791 | |||||||
| chr6:145642791 | A | T | 5 | a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show |
6 | HG02258.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.477-7305T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145642791 | |||||||
| chr6:145643015 | G | A | 93 | a0001c0001t0009g0142 a0001c0002t0002g0001 a0001c0002t0002g0002 others(90): Show |
115 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.477-7529C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643015 | |||||||
| chr6:145643123 | C | T | 1 | a0001c0002t0002g0092 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.477-7637G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643123 | |||||||
| chr6:145643158 | A | C | 1 | a0001c0001t0003g0051 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.477-7672T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643158 | |||||||
| chr6:145643162 | T | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-7676A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643162 | |||||||
| chr6:145643223 | A | C | 1 | a0001c0002t0002g0107 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.477-7737T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643223 | |||||||
| chr6:145643475 | T | C | 1 | a0001c0002t0002g0082 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.477-7989A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643475 | |||||||
| chr6:145643689 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-8203T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643689 | |||||||
| chr6:145643843 | GA | G | 110 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0166 others(107): Show |
132 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(129): Show |
intron_variant | MODIFIER | c.477-8358delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643843 | |||||||
| chr6:145643843 | GAA | G | 37 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(34): Show |
41 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(38): Show |
intron_variant | MODIFIER | c.477-8359_477-8358d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643843 | |||||||
| chr6:145643936 | T | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-8450A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643936 | |||||||
| chr6:145643959 | C | T | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.477-8473G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643959 | |||||||
| chr6:145643987 | G | T | 2 | a0001c0001t0001g0218 a0001c0001t0001g0223 |
2 | NA19058.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.477-8501C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643987 | |||||||
| chr6:145644103 | C | T | 1 | a0001c0001t0001g0182 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.477-8617G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644103 | |||||||
| chr6:145644194 | G | A | 1 | a0001c0001t0001g0172 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.477-8708C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644194 | |||||||
| chr6:145644511 | T | C | 15 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(12): Show |
16 | HG01081.hp1 HG01433.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.477-9025A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644511 | |||||||
| chr6:145644534 | G | T | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.477-9048C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644534 | |||||||
| chr6:145644537 | T | G | 137 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(134): Show |
163 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(160): Show |
intron_variant | MODIFIER | c.477-9051A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644537 | |||||||
| chr6:145644632 | T | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-9146A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644632 | |||||||
| chr6:145644672 | T | C | 38 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(35): Show |
42 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(39): Show |
intron_variant | MODIFIER | c.477-9186A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644672 | |||||||
| chr6:145644762 | G | C | 1 | a0001c0002t0002g0071 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.477-9276C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644762 | |||||||
| chr6:145644767 | T | C | 38 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(35): Show |
42 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(39): Show |
intron_variant | MODIFIER | c.477-9281A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644767 | |||||||
| chr6:145644874 | T | C | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-9388A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644874 | |||||||
| chr6:145644876 | C | G | 137 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(134): Show |
162 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(159): Show |
intron_variant | MODIFIER | c.477-9390G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145644876 | |||||||
| chr6:145645112 | C | A | 1 | a0001c0002t0002g0083 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.477-9626G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645112 | |||||||
| chr6:145645136 | T | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.477-9650A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645136 | |||||||
| chr6:145645233 | C | T | 3 | a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0172 |
4 | HG00741.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.477-9747G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645233 | |||||||
| chr6:145645307 | GTGT | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.477-9824_477-9822d others(5): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645307 | |||||||
| chr6:145645701 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-10215T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645701 | |||||||
| chr6:145645814 | G | C | 3 | a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0141 |
3 | HG01074.hp2 HG01123.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.477-10328C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645814 | |||||||
| chr6:145645910 | T | G | 1 | a0001c0001t0003g0051 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.477-10424A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645910 | |||||||
| chr6:145645950 | G | A | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.477-10464C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145645950 | |||||||
| chr6:145646335 | A | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.477-10849T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646335 | |||||||
| chr6:145646344 | T | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-10858A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646344 | |||||||
| chr6:145646384 | G | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.477-10898C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646384 | |||||||
| chr6:145646427 | C | T | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-10941G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646427 | |||||||
| chr6:145646584 | TC | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-11099delG | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646584 | |||||||
| chr6:145646602 | T | C | 1 | a0001c0002t0002g0127 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.477-11116A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646602 | |||||||
| chr6:145646671 | A | G | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.477-11185T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646671 | |||||||
| chr6:145646682 | T | C | 136 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(133): Show |
153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.477-11196A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646682 | |||||||
| chr6:145646706 | C | A | 1 | a0001c0001t0001g0156 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.477-11220G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646706 | |||||||
| chr6:145646716 | T | C | 5 | a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show |
6 | HG02258.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.477-11230A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646716 | |||||||
| chr6:145646733 | A | C | 1 | a0001c0002t0002g0136 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.477-11247T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646733 | |||||||
| chr6:145646741 | A | C | 87 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0186 others(84): Show |
92 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.477-11255T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646741 | |||||||
| chr6:145646974 | T | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-11488A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145646974 | |||||||
| chr6:145647071 | C | T | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-11585G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647071 | |||||||
| chr6:145647145 | G | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-11659C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647145 | |||||||
| chr6:145647152 | G | A | 182 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(179): Show |
203 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.477-11666C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647152 | |||||||
| chr6:145647220 | T | C | 2 | a0001c0001t0001g0237 a0001c0001t0001g0241 |
2 | HG02132.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.477-11734A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647220 | |||||||
| chr6:145647243 | C | G | 7 | a0001c0001t0001g0020 a0001c0001t0001g0144 a0001c0001t0001g0145 others(4): Show |
8 | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.477-11757G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647243 | |||||||
| chr6:145647306 | A | G | 1 | a0001c0002t0002g0118 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.477-11820T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647306 | |||||||
| chr6:145647360 | C | T | 5 | a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show |
6 | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-11874G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647360 | |||||||
| chr6:145647523 | C | T | 1 | a0007c0009t0003g0029 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.477-12037G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647523 | |||||||
| chr6:145647691 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-12205C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647691 | |||||||
| chr6:145647700 | AAAGGGG | A | 5 | a0001c0001t0003g0053 a0001c0002t0002g0106 a0001c0003t0001g0197 others(2): Show |
5 | HG00642.hp1 HG01257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.477-12220_477-1221 others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647700 | |||||||
| chr6:145647758 | G | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.477-12272C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647758 | |||||||
| chr6:145647760 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-12274G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647760 | |||||||
| chr6:145647765 | C | T | 1 | a0001c0002t0002g0134 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.477-12279G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145647765 | |||||||
| chr6:145648071 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-12585T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648071 | |||||||
| chr6:145648078 | G | T | 182 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(179): Show |
203 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.477-12592C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648078 | |||||||
| chr6:145648224 | G | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-12738C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648224 | |||||||
| chr6:145648255 | A | G | 1 | a0001c0001t0001g0262 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.477-12769T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648255 | |||||||
| chr6:145648280 | T | C | 2 | a0001c0002t0002g0008 a0001c0002t0002g0127 |
4 | NA18948.hp1 NA18982.hp2 NA19082.hp1 others(1): Show |
intron_variant | MODIFIER | c.477-12794A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648280 | |||||||
| chr6:145648531 | G | A | 1 | a0001c0001t0003g0054 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.477-13045C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648531 | |||||||
| chr6:145648538 | G | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-13052C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648538 | |||||||
| chr6:145648546 | G | C | 1 | a0001c0001t0005g0275 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.477-13060C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648546 | |||||||
| chr6:145648580 | T | G | 182 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(179): Show |
203 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.477-13094A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648580 | |||||||
| chr6:145648649 | A | G | 1 | a0001c0002t0002g0140 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.477-13163T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648649 | |||||||
| chr6:145648904 | C | A | 1 | a0001c0002t0002g0070 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.477-13418G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145648904 | |||||||
| chr6:145649066 | CAA | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-13582_477-1358 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649066 | |||||||
| chr6:145649393 | G | A | 1 | a0001c0001t0004g0033 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.477-13907C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649393 | |||||||
| chr6:145649428 | C | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-13942G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649428 | |||||||
| chr6:145649638 | T | G | 1 | a0001c0004t0006g0178 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.477-14152A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649638 | |||||||
| chr6:145649657 | C | A | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.477-14171G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649657 | |||||||
| chr6:145649861 | T | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-14375A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649861 | |||||||
| chr6:145649897 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-14411C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649897 | |||||||
| chr6:145649936 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-14450T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649936 | |||||||
| chr6:145649940 | C | T | 1 | a0001c0002t0002g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.477-14454G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649940 | |||||||
| chr6:145649979 | T | C | 178 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(175): Show |
199 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(196): Show |
intron_variant | MODIFIER | c.477-14493A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145649979 | |||||||
| chr6:145650137 | G | A | 45 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(42): Show |
49 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(46): Show |
intron_variant | MODIFIER | c.477-14651C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650137 | |||||||
| chr6:145650203 | G | C | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.477-14717C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650203 | |||||||
| chr6:145650207 | A | G | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-14721T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650207 | |||||||
| chr6:145650227 | C | G | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-14741G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650227 | |||||||
| chr6:145650273 | G | A | 1 | a0001c0001t0001g0218 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.477-14787C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650273 | |||||||
| chr6:145650321 | T | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-14835A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650321 | |||||||
| chr6:145650551 | C | CA | 6 | a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0002t0002g0089 others(3): Show |
6 | HG01123.hp1 HG01993.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.477-15066dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650551 | |||||||
| chr6:145650586 | C | T | 19 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(16): Show |
24 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.477-15100G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650586 | |||||||
| chr6:145650591 | A | G | 1 | a0008c0011t0001g0277 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.477-15105T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650591 | |||||||
| chr6:145650729 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.477-15243T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650729 | |||||||
| chr6:145650891 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.477-15405G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650891 | |||||||
| chr6:145650966 | A | C | 1 | a0001c0002t0002g0089 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.477-15480T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145650966 | |||||||
| chr6:145651177 | G | C | 1 | a0001c0002t0002g0077 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.477-15691C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651177 | |||||||
| chr6:145651258 | ATACAATT others(20): Show |
A | 1 | a0001c0001t0003g0040 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.477-15799_477-1577 others(31): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651258 | |||||||
| chr6:145651263 | A | G | 1 | a0001c0004t0006g0179 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.477-15777T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651263 | |||||||
| chr6:145651407 | T | C | 1 | a0001c0001t0001g0210 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.477-15921A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651407 | |||||||
| chr6:145651495 | G | A | 1 | a0001c0001t0001g0213 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.477-16009C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651495 | |||||||
| chr6:145651576 | C | T | 2 | a0001c0001t0001g0156 a0001c0002t0002g0108 |
2 | HG04115.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.477-16090G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651576 | |||||||
| chr6:145651583 | C | A | 3 | a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0224 |
3 | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.477-16097G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145651583 | |||||||
| chr6:145652108 | T | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-16622A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652108 | |||||||
| chr6:145652133 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.477-16647G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652133 | |||||||
| chr6:145652564 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-17078T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652564 | |||||||
| chr6:145652702 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.477-17216T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652702 | |||||||
| chr6:145652704 | A | G | 144 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(141): Show |
161 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(158): Show |
intron_variant | MODIFIER | c.477-17218T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652704 | |||||||
| chr6:145652907 | C | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.477-17421G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652907 | |||||||
| chr6:145652937 | G | T | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.477-17451C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145652937 | |||||||
| chr6:145653058 | A | G | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-17572T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653058 | |||||||
| chr6:145653445 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-17959G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653445 | |||||||
| chr6:145653517 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.477-18031G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653517 | |||||||
| chr6:145653584 | G | C | 3 | a0001c0001t0009g0142 a0001c0002t0002g0061 a0001c0002t0002g0139 |
3 | HG02572.hp2 HG03453.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-18098C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653584 | |||||||
| chr6:145653642 | C | G | 19 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(16): Show |
24 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.477-18156G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653642 | |||||||
| chr6:145653685 | G | A | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-18199C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653685 | |||||||
| chr6:145653910 | A | G | 1 | a0001c0001t0001g0169 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.477-18424T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653910 | |||||||
| chr6:145653999 | T | A | 1 | a0001c0001t0001g0158 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.477-18513A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145653999 | |||||||
| chr6:145654015 | T | C | 2 | a0001c0001t0003g0054 a0007c0009t0003g0029 |
2 | HG02258.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.477-18529A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654015 | |||||||
| chr6:145654194 | A | AT | 123 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(120): Show |
139 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.477-18709dupA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654194 | |||||||
| chr6:145654271 | C | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-18785G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654271 | |||||||
| chr6:145654319 | C | T | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.477-18833G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654319 | |||||||
| chr6:145654410 | C | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-18924G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654410 | |||||||
| chr6:145654789 | G | A | 1 | a0001c0001t0001g0172 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.477-19303C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145654789 | |||||||
| chr6:145655014 | T | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.477-19528A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655014 | |||||||
| chr6:145655094 | A | C | 182 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(179): Show |
203 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.477-19608T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655094 | |||||||
| chr6:145655151 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-19665C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655151 | |||||||
| chr6:145655152 | G | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-19666C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655152 | |||||||
| chr6:145655186 | G | GA | 6 | a0001c0002t0002g0104 a0001c0002t0002g0131 a0001c0004t0006g0176 others(3): Show |
6 | HG00735.hp2 HG02145.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-19701dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655186 | |||||||
| chr6:145655186 | GA | G | 178 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(175): Show |
199 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(196): Show |
intron_variant | MODIFIER | c.477-19701delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655186 | |||||||
| chr6:145655272 | T | C | 1 | a0001c0002t0002g0113 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.477-19786A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655272 | |||||||
| chr6:145655539 | T | C | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.477-20053A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655539 | |||||||
| chr6:145655781 | A | T | 1 | a0001c0001t0001g0181 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.477-20295T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655781 | |||||||
| chr6:145655798 | A | G | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.477-20312T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145655798 | |||||||
| chr6:145656042 | G | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.477-20556C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145656042 | |||||||
| chr6:145656392 | C | T | 1 | a0001c0002t0002g0103 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.477-20906G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145656392 | |||||||
| chr6:145656643 | T | TTTGGCAA others(12): Show |
2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.477-21176_477-2115 others(23): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145656643 | |||||||
| chr6:145656748 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-21262G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145656748 | |||||||
| chr6:145657078 | C | T | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.477-21592G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657078 | |||||||
| chr6:145657089 | C | CT | 8 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(5): Show |
8 | HG02135.hp2 HG02155.hp1 HG02735.hp2 others(5): Show |
intron_variant | MODIFIER | c.477-21604dupA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657089 | |||||||
| chr6:145657089 | C | CTT | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.477-21605_477-2160 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657089 | |||||||
| chr6:145657089 | CT | C | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.477-21604delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657089 | |||||||
| chr6:145657105 | T | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-21619A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657105 | |||||||
| chr6:145657164 | A | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-21678T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657164 | |||||||
| chr6:145657175 | C | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.477-21689G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657175 | |||||||
| chr6:145657234 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-21748G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657234 | |||||||
| chr6:145657278 | C | G | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.477-21792G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657278 | |||||||
| chr6:145657794 | C | A | 1 | a0001c0001t0001g0213 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.477-22308G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657794 | |||||||
| chr6:145657873 | G | A | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.477-22387C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657873 | |||||||
| chr6:145657890 | G | A | 11 | a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 others(8): Show |
11 | NA18942.hp2 NA18943.hp2 NA18966.hp2 others(8): Show |
intron_variant | MODIFIER | c.477-22404C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657890 | |||||||
| chr6:145657972 | C | T | 1 | a0001c0001t0003g0054 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.477-22486G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145657972 | |||||||
| chr6:145658053 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.477-22567T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658053 | |||||||
| chr6:145658095 | T | C | 1 | a0001c0001t0004g0033 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.477-22609A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658095 | |||||||
| chr6:145658121 | T | A | 1 | a0001c0002t0002g0141 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.477-22635A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658121 | |||||||
| chr6:145658338 | A | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-22852T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658338 | |||||||
| chr6:145658368 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.477-22882G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658368 | |||||||
| chr6:145658681 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.477-23195A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658681 | |||||||
| chr6:145658719 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.477-23233C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658719 | |||||||
| chr6:145658733 | C | T | 1 | a0001c0003t0001g0202 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.477-23247G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658733 | |||||||
| chr6:145658897 | T | G | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.477-23411A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145658897 | |||||||
| chr6:145659090 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-23604T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659090 | |||||||
| chr6:145659244 | C | T | 1 | a0001c0001t0001g0229 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.477-23758G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659244 | |||||||
| chr6:145659298 | T | C | 1 | a0001c0002t0002g0116 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.477-23812A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659298 | |||||||
| chr6:145659414 | T | C | 1 | a0001c0001t0001g0181 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.477-23928A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659414 | |||||||
| chr6:145659503 | A | G | 1 | a0001c0002t0012g0114 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.477-24017T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659503 | |||||||
| chr6:145659519 | T | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.477-24033A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659519 | |||||||
| chr6:145659894 | C | T | 1 | a0001c0001t0001g0261 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.477-24408G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659894 | |||||||
| chr6:145659933 | A | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.477-24447T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659933 | |||||||
| chr6:145659970 | C | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.477-24484G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145659970 | |||||||
| chr6:145660040 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-24554T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660040 | |||||||
| chr6:145660230 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-24744C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660230 | |||||||
| chr6:145660473 | C | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.477-24987G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660473 | |||||||
| chr6:145660659 | G | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.477-25173C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660659 | |||||||
| chr6:145660741 | G | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.477-25255C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660741 | |||||||
| chr6:145660794 | T | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.477-25308A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660794 | |||||||
| chr6:145660832 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+25290T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145660832 | |||||||
| chr6:145661156 | G | A | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.476+24966C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661156 | |||||||
| chr6:145661208 | C | T | 144 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(141): Show |
161 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(158): Show |
intron_variant | MODIFIER | c.476+24914G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661208 | |||||||
| chr6:145661276 | T | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+24846A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661276 | |||||||
| chr6:145661477 | G | A | 1 | a0001c0002t0002g0070 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.476+24645C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661477 | |||||||
| chr6:145661508 | C | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+24614G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661508 | |||||||
| chr6:145661538 | G | A | 1 | a0001c0001t0003g0038 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.476+24584C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661538 | |||||||
| chr6:145661576 | T | A | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+24546A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661576 | |||||||
| chr6:145661650 | T | G | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.476+24472A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661650 | |||||||
| chr6:145661803 | G | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.476+24319C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661803 | |||||||
| chr6:145661843 | C | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+24279G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661843 | |||||||
| chr6:145661895 | T | C | 1 | a0001c0002t0002g0067 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.476+24227A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145661895 | |||||||
| chr6:145662299 | A | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+23823T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662299 | |||||||
| chr6:145662386 | A | G | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+23736T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662386 | |||||||
| chr6:145662446 | C | CA | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.476+23675dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662446 | |||||||
| chr6:145662606 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+23516G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662606 | |||||||
| chr6:145662665 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.476+23457C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662665 | |||||||
| chr6:145662707 | A | G | 1 | a0001c0002t0002g0075 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.476+23415T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662707 | |||||||
| chr6:145662973 | T | C | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.476+23149A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145662973 | |||||||
| chr6:145663013 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+23109G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663013 | |||||||
| chr6:145663200 | G | A | 4 | a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show |
6 | HG00558.hp2 HG00621.hp2 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+22922C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663200 | |||||||
| chr6:145663267 | G | A | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.476+22855C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663267 | |||||||
| chr6:145663300 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+22822C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663300 | |||||||
| chr6:145663305 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0001g0149 |
2 | HG02559.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.476+22817G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663305 | |||||||
| chr6:145663354 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+22768G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663354 | |||||||
| chr6:145663389 | C | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+22733G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663389 | |||||||
| chr6:145663401 | C | T | 3 | a0001c0001t0001g0022 a0001c0001t0001g0165 a0001c0003t0001g0192 |
4 | HG01169.hp1 HG03098.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.476+22721G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663401 | |||||||
| chr6:145663411 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+22711C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663411 | |||||||
| chr6:145663412 | T | C | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.476+22710A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663412 | |||||||
| chr6:145663437 | C | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+22685G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663437 | |||||||
| chr6:145663444 | T | C | 1 | a0001c0001t0001g0023 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.476+22678A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663444 | |||||||
| chr6:145663531 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+22591G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663531 | |||||||
| chr6:145663559 | C | T | 90 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(87): Show |
96 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.476+22563G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663559 | |||||||
| chr6:145663602 | C | G | 2 | a0001c0001t0001g0024 a0001c0001t0001g0185 |
3 | HG01978.hp1 HG01981.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.476+22520G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663602 | |||||||
| chr6:145663638 | C | T | 1 | a0001c0001t0003g0036 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.476+22484G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663638 | |||||||
| chr6:145663639 | G | A | 1 | a0001c0001t0001g0174 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.476+22483C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663639 | |||||||
| chr6:145663856 | C | T | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+22266G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663856 | |||||||
| chr6:145663864 | A | G | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.476+22258T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663864 | |||||||
| chr6:145663867 | C | T | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.476+22255G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663867 | |||||||
| chr6:145663902 | T | G | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.476+22220A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663902 | |||||||
| chr6:145663967 | C | G | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.476+22155G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663967 | |||||||
| chr6:145663979 | C | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+22143G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145663979 | |||||||
| chr6:145664025 | C | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+22097G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664025 | |||||||
| chr6:145664034 | A | C | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.476+22088T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664034 | |||||||
| chr6:145664049 | G | A | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.476+22073C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664049 | |||||||
| chr6:145664110 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+22012G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664110 | |||||||
| chr6:145664111 | G | A | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.476+22011C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664111 | |||||||
| chr6:145664161 | A | G | 2 | a0001c0001t0001g0193 a0001c0001t0001g0194 |
2 | HG01361.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.476+21961T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664161 | |||||||
| chr6:145664228 | T | TAA | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+21893_476+2189 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664228 | |||||||
| chr6:145664245 | A | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.476+21877T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664245 | |||||||
| chr6:145664274 | C | T | 1 | a0001c0002t0002g0072 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.476+21848G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664274 | |||||||
| chr6:145664480 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+21642C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664480 | |||||||
| chr6:145664508 | T | C | 5 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(2): Show |
5 | HG00438.hp2 HG00621.hp1 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.476+21614A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664508 | |||||||
| chr6:145664545 | C | G | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.476+21577G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664545 | |||||||
| chr6:145664691 | C | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+21431G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664691 | |||||||
| chr6:145664722 | A | T | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.476+21400T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664722 | |||||||
| chr6:145664729 | C | T | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.476+21393G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664729 | |||||||
| chr6:145664849 | A | T | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.476+21273T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664849 | |||||||
| chr6:145664850 | T | A | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.476+21272A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664850 | |||||||
| chr6:145664965 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+21157G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145664965 | |||||||
| chr6:145665015 | T | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+21107A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665015 | |||||||
| chr6:145665046 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.476+21076G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665046 | |||||||
| chr6:145665072 | A | G | 1 | a0001c0002t0002g0086 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.476+21050T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665072 | |||||||
| chr6:145665085 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+21037T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665085 | |||||||
| chr6:145665191 | C | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+20931G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665191 | |||||||
| chr6:145665327 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+20795C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665327 | |||||||
| chr6:145665346 | C | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+20776G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665346 | |||||||
| chr6:145665385 | C | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+20737G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665385 | |||||||
| chr6:145665419 | A | T | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.476+20703T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665419 | |||||||
| chr6:145665454 | A | G | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.476+20668T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665454 | |||||||
| chr6:145665473 | G | A | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.476+20649C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665473 | |||||||
| chr6:145665510 | A | T | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.476+20612T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665510 | |||||||
| chr6:145665518 | A | G | 1 | a0001c0001t0003g0010 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.476+20604T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665518 | |||||||
| chr6:145665568 | C | T | 1 | a0001c0002t0002g0086 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.476+20554G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665568 | |||||||
| chr6:145665835 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+20287G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665835 | |||||||
| chr6:145665897 | A | G | 1 | a0001c0001t0001g0159 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.476+20225T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665897 | |||||||
| chr6:145665919 | T | G | 12 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0156 others(9): Show |
18 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.476+20203A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665919 | |||||||
| chr6:145665959 | C | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+20163G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145665959 | |||||||
| chr6:145666089 | C | G | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.476+20033G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666089 | |||||||
| chr6:145666107 | G | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+20015C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666107 | |||||||
| chr6:145666118 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+20004G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666118 | |||||||
| chr6:145666129 | G | A | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+19993C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666129 | |||||||
| chr6:145666164 | G | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.476+19958C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666164 | |||||||
| chr6:145666176 | A | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+19946T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666176 | |||||||
| chr6:145666194 | A | T | 2 | a0001c0002t0002g0078 a0001c0002t0002g0110 |
2 | NA18966.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.476+19928T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666194 | |||||||
| chr6:145666196 | T | C | 2 | a0001c0002t0002g0078 a0001c0002t0002g0110 |
2 | NA18966.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.476+19926A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666196 | |||||||
| chr6:145666199 | A | T | 1 | a0001c0001t0003g0042 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.476+19923T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666199 | |||||||
| chr6:145666229 | G | C | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+19893C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666229 | |||||||
| chr6:145666239 | G | A | 2 | a0001c0001t0003g0054 a0007c0009t0003g0029 |
2 | HG02258.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.476+19883C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666239 | |||||||
| chr6:145666245 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+19877T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666245 | |||||||
| chr6:145666250 | T | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.476+19872A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666250 | |||||||
| chr6:145666268 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+19854A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666268 | |||||||
| chr6:145666309 | G | A | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.476+19813C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666309 | |||||||
| chr6:145666313 | A | G | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.476+19809T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666313 | |||||||
| chr6:145666367 | G | C | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.476+19755C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666367 | |||||||
| chr6:145666367 | G | T | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.476+19755C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666367 | |||||||
| chr6:145666375 | A | C | 1 | a0001c0002t0002g0106 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.476+19747T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666375 | |||||||
| chr6:145666403 | C | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+19719G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666403 | |||||||
| chr6:145666416 | G | C | 2 | a0001c0002t0002g0082 a0001c0002t0013g0081 |
2 | HG00738.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.476+19706C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666416 | |||||||
| chr6:145666484 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+19638G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666484 | |||||||
| chr6:145666510 | A | G | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.476+19612T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666510 | |||||||
| chr6:145666517 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+19605G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666517 | |||||||
| chr6:145666732 | T | C | 1 | a0001c0001t0001g0263 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.476+19390A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666732 | |||||||
| chr6:145666791 | G | T | 1 | a0001c0001t0001g0175 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.476+19331C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666791 | |||||||
| chr6:145666827 | T | C | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.476+19295A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666827 | |||||||
| chr6:145666837 | A | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+19285T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666837 | |||||||
| chr6:145666855 | C | T | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.476+19267G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666855 | |||||||
| chr6:145666856 | A | G | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.476+19266T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666856 | |||||||
| chr6:145666940 | C | T | 1 | a0001c0002t0002g0131 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.476+19182G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666940 | |||||||
| chr6:145666962 | T | G | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+19160A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145666962 | |||||||
| chr6:145667017 | G | A | 97 | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 others(94): Show |
104 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(101): Show |
intron_variant | MODIFIER | c.476+19105C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667017 | |||||||
| chr6:145667023 | T | C | 2 | a0001c0001t0005g0273 a0001c0001t0011g0272 |
2 | NA18963.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.476+19099A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667023 | |||||||
| chr6:145667036 | T | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.476+19086A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667036 | |||||||
| chr6:145667090 | G | C | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.476+19032C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667090 | |||||||
| chr6:145667095 | T | C | 1 | a0001c0002t0002g0095 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.476+19027A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667095 | |||||||
| chr6:145667100 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+19022T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667100 | |||||||
| chr6:145667120 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+19002G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667120 | |||||||
| chr6:145667180 | A | G | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.476+18942T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667180 | |||||||
| chr6:145667204 | A | C | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.476+18918T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667204 | |||||||
| chr6:145667235 | A | G | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.476+18887T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667235 | |||||||
| chr6:145667236 | C | A | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.476+18886G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667236 | |||||||
| chr6:145667301 | C | T | 3 | a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0101 |
3 | NA18956.hp2 NA18998.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.476+18821G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667301 | |||||||
| chr6:145667345 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.476+18777C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667345 | |||||||
| chr6:145667384 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+18738A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667384 | |||||||
| chr6:145667421 | T | C | 1 | a0001c0001t0005g0276 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.476+18701A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667421 | |||||||
| chr6:145667459 | A | T | 180 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(177): Show |
201 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(198): Show |
intron_variant | MODIFIER | c.476+18663T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667459 | |||||||
| chr6:145667470 | A | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+18652T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667470 | |||||||
| chr6:145667510 | A | T | 1 | a0001c0003t0001g0245 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.476+18612T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667510 | |||||||
| chr6:145667519 | G | A | 1 | a0001c0003t0001g0198 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.476+18603C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667519 | |||||||
| chr6:145667587 | C | A | 17 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(14): Show |
18 | HG01433.hp2 HG02145.hp2 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.476+18535G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667587 | |||||||
| chr6:145667637 | C | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+18485G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667637 | |||||||
| chr6:145667721 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+18401A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667721 | |||||||
| chr6:145667724 | T | C | 2 | a0001c0002t0002g0098 a0001c0002t0002g0108 |
2 | HG04115.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.476+18398A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667724 | |||||||
| chr6:145667725 | T | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+18397A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667725 | |||||||
| chr6:145667727 | C | T | 41 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(38): Show |
45 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(42): Show |
intron_variant | MODIFIER | c.476+18395G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667727 | |||||||
| chr6:145667728 | A | G | 178 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(175): Show |
199 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(196): Show |
intron_variant | MODIFIER | c.476+18394T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667728 | |||||||
| chr6:145667732 | T | C | 35 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(32): Show |
39 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(36): Show |
intron_variant | MODIFIER | c.476+18390A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145667732 | |||||||
| chr6:145668056 | C | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+18066G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668056 | |||||||
| chr6:145668070 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.476+18052G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668070 | |||||||
| chr6:145668164 | T | TA | 98 | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 others(95): Show |
105 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.476+17957dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668164 | |||||||
| chr6:145668239 | T | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+17883A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668239 | |||||||
| chr6:145668281 | C | G | 3 | a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0172 |
4 | HG00741.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.476+17841G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668281 | |||||||
| chr6:145668292 | C | T | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+17830G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668292 | |||||||
| chr6:145668372 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.476+17750A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668372 | |||||||
| chr6:145668511 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+17611G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668511 | |||||||
| chr6:145668663 | C | T | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.476+17459G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668663 | |||||||
| chr6:145668671 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+17451A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145668671 | |||||||
| chr6:145669159 | CTTAGAAA others(2): Show |
C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+16954_476+1696 others(13): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669159 | |||||||
| chr6:145669172 | A | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+16950T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669172 | |||||||
| chr6:145669257 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+16865A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669257 | |||||||
| chr6:145669356 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+16766A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669356 | |||||||
| chr6:145669581 | A | C | 1 | a0001c0001t0001g0171 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.476+16541T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669581 | |||||||
| chr6:145669609 | A | T | 1 | a0001c0001t0001g0194 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.476+16513T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669609 | |||||||
| chr6:145669661 | T | C | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+16461A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669661 | |||||||
| chr6:145669838 | A | C | 1 | a0001c0002t0002g0132 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.476+16284T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669838 | |||||||
| chr6:145669893 | T | C | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+16229A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145669893 | |||||||
| chr6:145670049 | A | T | 1 | a0001c0001t0001g0252 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.476+16073T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145670049 | |||||||
| chr6:145670554 | T | TTTA | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+15565_476+1556 others(7): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145670554 | |||||||
| chr6:145670783 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+15339C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145670783 | |||||||
| chr6:145671002 | A | G | 1 | a0001c0002t0002g0074 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.476+15120T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671002 | |||||||
| chr6:145671067 | T | C | 1 | a0001c0002t0002g0072 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.476+15055A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671067 | |||||||
| chr6:145671173 | G | A | 1 | a0001c0001t0011g0272 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.476+14949C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671173 | |||||||
| chr6:145671219 | T | G | 1 | a0001c0002t0002g0019 | 2 | HG03704.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.476+14903A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671219 | |||||||
| chr6:145671327 | G | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+14795C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671327 | |||||||
| chr6:145671615 | G | C | 1 | a0001c0001t0001g0169 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.476+14507C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671615 | |||||||
| chr6:145671839 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+14283G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671839 | |||||||
| chr6:145671978 | C | A | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.476+14144G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145671978 | |||||||
| chr6:145672052 | T | C | 1 | a0001c0002t0002g0070 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.476+14070A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672052 | |||||||
| chr6:145672318 | C | G | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.476+13804G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672318 | |||||||
| chr6:145672527 | G | C | 9 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(6): Show |
12 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.476+13595C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672527 | |||||||
| chr6:145672547 | A | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+13575T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672547 | |||||||
| chr6:145672625 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+13497G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672625 | |||||||
| chr6:145672943 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+13179A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672943 | |||||||
| chr6:145672948 | A | G | 9 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(6): Show |
9 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(6): Show |
intron_variant | MODIFIER | c.476+13174T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145672948 | |||||||
| chr6:145673040 | C | T | 5 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(2): Show |
5 | HG00438.hp2 HG00621.hp1 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.476+13082G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673040 | |||||||
| chr6:145673069 | A | T | 1 | a0001c0001t0003g0053 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.476+13053T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673069 | |||||||
| chr6:145673162 | A | G | 3 | a0001c0001t0003g0034 a0001c0001t0003g0054 a0007c0009t0003g0029 |
3 | HG02055.hp2 HG02258.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.476+12960T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673162 | |||||||
| chr6:145673254 | C | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+12868G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673254 | |||||||
| chr6:145673319 | G | A | 2 | a0001c0002t0002g0016 a0001c0002t0002g0104 |
3 | HG02647.hp2 HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.476+12803C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673319 | |||||||
| chr6:145673358 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+12764C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673358 | |||||||
| chr6:145673402 | G | T | 1 | a0001c0002t0002g0088 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.476+12720C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673402 | |||||||
| chr6:145673466 | C | T | 9 | a0001c0002t0002g0015 a0001c0002t0002g0065 a0001c0002t0002g0094 others(6): Show |
10 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.476+12656G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673466 | |||||||
| chr6:145673559 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.476+12563C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673559 | |||||||
| chr6:145673578 | T | C | 1 | a0001c0001t0001g0256 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.476+12544A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673578 | |||||||
| chr6:145673639 | G | A | 1 | a0001c0001t0001g0181 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.476+12483C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673639 | |||||||
| chr6:145673722 | G | T | 4 | a0001c0003t0001g0192 a0001c0003t0001g0197 a0001c0003t0001g0198 others(1): Show |
4 | HG00642.hp1 HG01169.hp1 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+12400C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673722 | |||||||
| chr6:145673733 | G | A | 1 | a0001c0001t0001g0184 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.476+12389C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673733 | |||||||
| chr6:145673841 | C | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+12281G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673841 | |||||||
| chr6:145673959 | G | A | 1 | a0001c0002t0002g0068 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.476+12163C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145673959 | |||||||
| chr6:145674028 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+12094G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145674028 | |||||||
| chr6:145674404 | G | C | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.476+11718C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145674404 | |||||||
| chr6:145674538 | C | G | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+11584G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145674538 | |||||||
| chr6:145674935 | C | T | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.476+11187G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145674935 | |||||||
| chr6:145674967 | A | G | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+11155T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145674967 | |||||||
| chr6:145675084 | C | A | 2 | a0001c0001t0001g0196 a0001c0001t0001g0212 |
2 | HG00738.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.476+11038G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675084 | |||||||
| chr6:145675149 | T | G | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.476+10973A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675149 | |||||||
| chr6:145675160 | C | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+10962G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675160 | |||||||
| chr6:145675360 | T | C | 1 | a0001c0001t0003g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.476+10762A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675360 | |||||||
| chr6:145675382 | G | A | 1 | a0001c0002t0002g0098 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.476+10740C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675382 | |||||||
| chr6:145675597 | C | A | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+10525G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675597 | |||||||
| chr6:145675701 | G | T | 24 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 others(21): Show |
32 | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.476+10421C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675701 | |||||||
| chr6:145675959 | C | G | 1 | a0001c0001t0001g0170 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.476+10163G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675959 | |||||||
| chr6:145675990 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+10132G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145675990 | |||||||
| chr6:145676032 | C | T | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.476+10090G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676032 | |||||||
| chr6:145676103 | G | T | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.476+10019C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676103 | |||||||
| chr6:145676181 | A | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+9941T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676181 | |||||||
| chr6:145676312 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.476+9810G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676312 | |||||||
| chr6:145676322 | C | A | 1 | a0001c0002t0002g0123 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.476+9800G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676322 | |||||||
| chr6:145676466 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+9656G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676466 | |||||||
| chr6:145676576 | C | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+9546G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676576 | |||||||
| chr6:145676611 | C | CA | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+9510dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676611 | |||||||
| chr6:145676612 | A | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+9510T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676612 | |||||||
| chr6:145676648 | C | T | 1 | a0001c0002t0002g0141 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.476+9474G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676648 | |||||||
| chr6:145676709 | C | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+9413G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676709 | |||||||
| chr6:145676874 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+9248A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676874 | |||||||
| chr6:145676894 | A | T | 1 | a0001c0001t0001g0201 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.476+9228T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145676894 | |||||||
| chr6:145677017 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.476+9105G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677017 | |||||||
| chr6:145677308 | A | G | 1 | a0001c0002t0002g0102 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.476+8814T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677308 | |||||||
| chr6:145677394 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+8728T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677394 | |||||||
| chr6:145677491 | T | C | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.476+8631A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677491 | |||||||
| chr6:145677568 | C | G | 1 | a0001c0001t0001g0220 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.476+8554G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677568 | |||||||
| chr6:145677569 | A | G | 181 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(178): Show |
202 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(199): Show |
intron_variant | MODIFIER | c.476+8553T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677569 | |||||||
| chr6:145677728 | G | A | 2 | a0001c0001t0001g0236 a0001c0001t0001g0242 |
2 | NA18944.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.476+8394C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677728 | |||||||
| chr6:145677876 | G | A | 1 | a0001c0001t0003g0011 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.476+8246C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145677876 | |||||||
| chr6:145678204 | G | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+7918C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678204 | |||||||
| chr6:145678223 | A | G | 208 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(205): Show |
234 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(231): Show |
intron_variant | MODIFIER | c.476+7899T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678223 | |||||||
| chr6:145678512 | G | C | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.476+7610C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678512 | |||||||
| chr6:145678553 | G | GA | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+7568dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678553 | |||||||
| chr6:145678650 | TGTTCATC others(7): Show |
T | 1 | a0001c0002t0002g0018 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.476+7458_476+7471d others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678650 | |||||||
| chr6:145678679 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+7443T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678679 | |||||||
| chr6:145678699 | G | A | 3 | a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0172 |
4 | HG00741.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.476+7423C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678699 | |||||||
| chr6:145678705 | A | G | 1 | a0001c0002t0002g0072 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.476+7417T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678705 | |||||||
| chr6:145678711 | C | T | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+7411G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678711 | |||||||
| chr6:145678712 | G | A | 1 | a0001c0002t0002g0085 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.476+7410C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678712 | |||||||
| chr6:145678803 | G | T | 1 | a0008c0011t0001g0277 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.476+7319C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678803 | |||||||
| chr6:145678848 | C | T | 1 | a0001c0002t0002g0019 | 2 | HG03704.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.476+7274G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678848 | |||||||
| chr6:145678908 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.476+7214A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145678908 | |||||||
| chr6:145679274 | G | A | 2 | a0001c0001t0001g0221 a0005c0010t0001g0222 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.476+6848C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679274 | |||||||
| chr6:145679298 | T | C | 12 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0156 others(9): Show |
18 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.476+6824A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679298 | |||||||
| chr6:145679463 | G | A | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.476+6659C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679463 | |||||||
| chr6:145679464 | C | A | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.476+6658G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679464 | |||||||
| chr6:145679855 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+6267C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679855 | |||||||
| chr6:145679888 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+6234G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679888 | |||||||
| chr6:145679897 | A | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+6225T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145679897 | |||||||
| chr6:145680132 | T | A | 1 | a0001c0002t0002g0066 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.476+5990A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680132 | |||||||
| chr6:145680161 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+5961C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680161 | |||||||
| chr6:145680339 | C | CT | 149 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(146): Show |
166 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(163): Show |
intron_variant | MODIFIER | c.476+5782dupA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680339 | |||||||
| chr6:145680383 | AT | A | 8 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(5): Show |
8 | HG02135.hp2 HG02145.hp1 HG02155.hp1 others(5): Show |
intron_variant | MODIFIER | c.476+5738delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680383 | |||||||
| chr6:145680384 | T | TTTA | 166 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(163): Show |
187 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(184): Show |
intron_variant | MODIFIER | c.476+5737_476+5738i others(5): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680384 | |||||||
| chr6:145680384 | T | TTTATTTA | 7 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(4): Show |
7 | HG01069.hp2 HG01433.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.476+5737_476+5738i others(9): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680384 | |||||||
| chr6:145680389 | T | A | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.476+5733A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680389 | |||||||
| chr6:145680518 | T | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+5604A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680518 | |||||||
| chr6:145680567 | G | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+5555C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680567 | |||||||
| chr6:145680622 | A | G | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.476+5500T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680622 | |||||||
| chr6:145680623 | T | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.476+5499A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680623 | |||||||
| chr6:145680637 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+5485A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680637 | |||||||
| chr6:145680642 | T | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+5480A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680642 | |||||||
| chr6:145680680 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+5442A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680680 | |||||||
| chr6:145680788 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+5334A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680788 | |||||||
| chr6:145680841 | G | A | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.476+5281C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680841 | |||||||
| chr6:145680854 | G | C | 2 | a0001c0001t0001g0249 a0001c0001t0014g0208 |
2 | HG00558.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.476+5268C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680854 | |||||||
| chr6:145680893 | T | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.476+5229A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680893 | |||||||
| chr6:145680961 | C | T | 147 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(144): Show |
164 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(161): Show |
intron_variant | MODIFIER | c.476+5161G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145680961 | |||||||
| chr6:145681000 | T | A | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.476+5122A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681000 | |||||||
| chr6:145681243 | GT | G | 142 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(139): Show |
159 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(156): Show |
intron_variant | MODIFIER | c.476+4878delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681243 | |||||||
| chr6:145681316 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+4806G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681316 | |||||||
| chr6:145681317 | A | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+4805T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681317 | |||||||
| chr6:145681346 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+4776A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681346 | |||||||
| chr6:145681402 | T | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+4720A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681402 | |||||||
| chr6:145681466 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.476+4656G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681466 | |||||||
| chr6:145681469 | T | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+4653A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681469 | |||||||
| chr6:145681475 | T | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+4647A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681475 | |||||||
| chr6:145681557 | A | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+4565T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681557 | |||||||
| chr6:145681571 | A | G | 1 | a0001c0001t0001g0145 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.476+4551T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681571 | |||||||
| chr6:145681573 | G | A | 1 | a0001c0002t0002g0079 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.476+4549C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681573 | |||||||
| chr6:145681620 | G | T | 1 | a0001c0002t0002g0059 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.476+4502C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681620 | |||||||
| chr6:145681661 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+4461T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681661 | |||||||
| chr6:145681711 | G | A | 1 | a0001c0002t0002g0119 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.476+4411C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681711 | |||||||
| chr6:145681714 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+4408C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681714 | |||||||
| chr6:145681743 | T | C | 1 | a0001c0001t0001g0149 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.476+4379A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681743 | |||||||
| chr6:145681828 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+4294T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681828 | |||||||
| chr6:145681990 | T | C | 6 | a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0002t0002g0106 others(3): Show |
6 | HG02165.hp2 HG03239.hp1 HG03654.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+4132A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681990 | |||||||
| chr6:145682023 | C | T | 1 | a0001c0003t0001g0245 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.476+4099G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682023 | |||||||
| chr6:145682039 | G | A | 7 | a0001c0001t0001g0020 a0001c0001t0001g0144 a0001c0001t0001g0145 others(4): Show |
8 | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.476+4083C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682039 | |||||||
| chr6:145682118 | C | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.476+4004G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682118 | |||||||
| chr6:145682137 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.476+3985G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682137 | |||||||
| chr6:145682211 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+3911T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682211 | |||||||
| chr6:145682222 | T | G | 1 | a0001c0002t0002g0006 | 3 | NA18960.hp1 NA18973.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.476+3900A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682222 | |||||||
| chr6:145682265 | C | T | 87 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0186 others(84): Show |
92 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.476+3857G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682265 | |||||||
| chr6:145682374 | G | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.476+3748C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682374 | |||||||
| chr6:145682634 | A | G | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.476+3488T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682634 | |||||||
| chr6:145682654 | G | C | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+3468C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682654 | |||||||
| chr6:145682670 | T | C | 1 | a0007c0009t0003g0029 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.476+3452A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682670 | |||||||
| chr6:145682709 | T | A | 1 | a0001c0002t0002g0066 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.476+3413A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682709 | |||||||
| chr6:145682761 | C | T | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.476+3361G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145682761 | |||||||
| chr6:145683135 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.476+2987C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683135 | |||||||
| chr6:145683268 | G | GGT | 24 | a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0157 others(21): Show |
29 | HG00741.hp1 HG01069.hp2 HG01081.hp2 others(26): Show |
intron_variant | MODIFIER | c.476+2852_476+2853d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGT | 29 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show |
32 | HG00621.hp1 HG00639.hp2 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.476+2850_476+2853d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGT | 17 | a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0001g0169 others(14): Show |
18 | HG00280.hp2 HG00438.hp2 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.476+2848_476+2853d others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(1): Show |
22 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0185 others(19): Show |
23 | HG01069.hp1 HG01099.hp2 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.476+2846_476+2853d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(3): Show |
21 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0163 others(18): Show |
21 | HG00738.hp2 HG01515.hp2 HG01891.hp1 others(18): Show |
intron_variant | MODIFIER | c.476+2844_476+2853d others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(5): Show |
19 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0149 others(16): Show |
21 | HG00558.hp1 HG01070.hp2 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.476+2842_476+2853d others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(7): Show |
14 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0145 others(11): Show |
19 | HG00544.hp2 HG01169.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.476+2840_476+2853d others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(9): Show |
6 | a0001c0001t0001g0144 a0001c0001t0001g0189 a0001c0001t0001g0227 others(3): Show |
6 | HG00609.hp1 HG00735.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.476+2838_476+2853d others(18): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GGTGTGTG others(15): Show |
1 | a0001c0001t0001g0146 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.476+2832_476+2853d others(24): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | G | GTGTGTGT others(6): Show |
1 | a0001c0001t0001g0253 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.476+2853_476+2854i others(15): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | GGT | G | 73 | a0001c0001t0003g0011 a0001c0001t0003g0040 a0001c0002t0002g0001 others(70): Show |
93 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(90): Show |
intron_variant | MODIFIER | c.476+2852_476+2853d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683268 | GGTGT | G | 10 | a0001c0001t0009g0142 a0001c0002t0002g0008 a0001c0002t0002g0016 others(7): Show |
13 | HG01109.hp2 HG02647.hp2 HG02895.hp2 others(10): Show |
intron_variant | MODIFIER | c.476+2850_476+2853d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683268 | |||||||
| chr6:145683305 | GTGAGTGT others(3): Show |
G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.476+2807_476+2816d others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683305 | |||||||
| chr6:145683308 | A | T | 138 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(135): Show |
153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.476+2814T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683308 | |||||||
| chr6:145683313 | G | GTGTGTGT others(7): Show |
1 | a0001c0001t0001g0224 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.476+2808_476+2809i others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683313 | |||||||
| chr6:145683313 | G | GTGTGTGT others(9): Show |
2 | a0001c0001t0001g0199 a0001c0001t0001g0217 |
2 | HG01516.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.476+2808_476+2809i others(18): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683313 | |||||||
| chr6:145683315 | A | G | 3 | a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0265 |
3 | HG00544.hp2 HG02155.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.476+2807T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683315 | |||||||
| chr6:145683537 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+2585G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683537 | |||||||
| chr6:145683541 | C | A | 216 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(213): Show |
243 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(240): Show |
intron_variant | MODIFIER | c.476+2581G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683541 | |||||||
| chr6:145683624 | A | T | 22 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(19): Show |
27 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
intron_variant | MODIFIER | c.476+2498T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683624 | |||||||
| chr6:145683730 | C | T | 1 | a0001c0001t0001g0236 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.476+2392G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683730 | |||||||
| chr6:145683797 | G | A | 1 | a0001c0001t0003g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.476+2325C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683797 | |||||||
| chr6:145683874 | C | T | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.476+2248G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683874 | |||||||
| chr6:145683882 | C | T | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.476+2240G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145683882 | |||||||
| chr6:145684290 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.476+1832T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684290 | |||||||
| chr6:145684737 | G | T | 189 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(186): Show |
212 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(209): Show |
intron_variant | MODIFIER | c.476+1385C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684737 | |||||||
| chr6:145684791 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.476+1331T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684791 | |||||||
| chr6:145684806 | A | AATT | 191 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(188): Show |
214 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(211): Show |
intron_variant | MODIFIER | c.476+1315_476+1316i others(5): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684806 | |||||||
| chr6:145684981 | T | C | 184 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(181): Show |
207 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(204): Show |
intron_variant | MODIFIER | c.476+1141A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684981 | |||||||
| chr6:145684991 | C | T | 9 | a0001c0002t0002g0015 a0001c0002t0002g0065 a0001c0002t0002g0094 others(6): Show |
10 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.476+1131G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145684991 | |||||||
| chr6:145685111 | T | C | 2 | a0001c0001t0001g0268 a0001c0001t0001g0269 |
2 | HG02083.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.476+1011A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685111 | |||||||
| chr6:145685191 | T | C | 1 | a0001c0002t0002g0059 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.476+931A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685191 | |||||||
| chr6:145685518 | G | A | 180 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(177): Show |
201 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(198): Show |
intron_variant | MODIFIER | c.476+604C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685518 | |||||||
| chr6:145685559 | A | G | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.476+563T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685559 | |||||||
| chr6:145685813 | A | G | 1 | a0001c0001t0001g0163 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.476+309T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685813 | |||||||
| chr6:145685971 | T | A | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.476+151A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145685971 | |||||||
| chr6:145686011 | T | C | 2 | a0001c0002t0002g0128 a0001c0002t0002g0133 |
2 | HG00642.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.476+111A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145686011 | |||||||
| chr6:145686030 | G | A | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.476+92C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145686030 | |||||||
| chr6:145686087 | T | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.476+35A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145686087 | |||||||
| chr6:145686371 | A | G | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.302-75T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686371 | |||||||
| chr6:145686429 | A | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-133T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686429 | |||||||
| chr6:145686618 | A | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-322T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686618 | |||||||
| chr6:145686643 | G | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.302-347C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686643 | |||||||
| chr6:145686655 | T | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.302-359A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686655 | |||||||
| chr6:145686656 | A | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.302-360T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686656 | |||||||
| chr6:145686687 | G | A | 4 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(1): Show |
4 | NA18943.hp2 NA18973.hp2 NA19058.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-391C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686687 | |||||||
| chr6:145686794 | A | C | 1 | a0001c0001t0001g0256 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.302-498T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686794 | |||||||
| chr6:145686940 | T | C | 1 | a0001c0002t0002g0064 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.302-644A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145686940 | |||||||
| chr6:145687138 | A | G | 136 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(133): Show |
155 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.302-842T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687138 | |||||||
| chr6:145687162 | G | T | 1 | a0001c0001t0001g0150 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.302-866C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687162 | |||||||
| chr6:145687384 | A | G | 2 | a0001c0001t0001g0200 a0001c0001t0001g0201 |
2 | NA18998.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.302-1088T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687384 | |||||||
| chr6:145687499 | C | G | 1 | a0001c0001t0001g0199 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.302-1203G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687499 | |||||||
| chr6:145687657 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
210 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(207): Show |
intron_variant | MODIFIER | c.302-1361A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687657 | |||||||
| chr6:145687739 | T | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-1443A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687739 | |||||||
| chr6:145687768 | G | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-1472C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687768 | |||||||
| chr6:145687852 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-1556C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687852 | |||||||
| chr6:145687854 | C | A | 1 | a0001c0001t0001g0264 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.302-1558G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687854 | |||||||
| chr6:145687856 | A | G | 4 | a0001c0001t0001g0023 a0001c0001t0001g0155 a0001c0001t0001g0171 others(1): Show |
5 | HG00741.hp1 HG02451.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-1560T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687856 | |||||||
| chr6:145687896 | T | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-1600A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687896 | |||||||
| chr6:145687930 | C | G | 32 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(29): Show |
36 | HG01081.hp2 HG01123.hp2 HG01433.hp2 others(33): Show |
intron_variant | MODIFIER | c.302-1634G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687930 | |||||||
| chr6:145687942 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-1646G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145687942 | |||||||
| chr6:145688001 | C | T | 4 | a0001c0003t0001g0192 a0001c0003t0001g0197 a0001c0003t0001g0198 others(1): Show |
4 | HG00642.hp1 HG01169.hp1 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-1705G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688001 | |||||||
| chr6:145688010 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-1714T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688010 | |||||||
| chr6:145688105 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-1809T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688105 | |||||||
| chr6:145688216 | A | G | 1 | a0001c0002t0002g0070 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.302-1920T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688216 | |||||||
| chr6:145688280 | G | T | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-1984C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688280 | |||||||
| chr6:145688321 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-2025T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688321 | |||||||
| chr6:145688616 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-2320T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688616 | |||||||
| chr6:145688749 | G | A | 1 | a0004c0008t0002g0130 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.302-2453C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688749 | |||||||
| chr6:145688805 | A | C | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.302-2509T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688805 | |||||||
| chr6:145688883 | G | A | 2 | a0001c0001t0001g0221 a0005c0010t0001g0222 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.302-2587C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688883 | |||||||
| chr6:145688889 | G | C | 3 | a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0172 |
4 | HG00741.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-2593C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145688889 | |||||||
| chr6:145689018 | A | C | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-2722T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689018 | |||||||
| chr6:145689053 | T | C | 1 | a0001c0002t0002g0124 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.302-2757A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689053 | |||||||
| chr6:145689075 | G | T | 2 | a0001c0002t0002g0128 a0001c0002t0002g0133 |
2 | HG00642.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.302-2779C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689075 | |||||||
| chr6:145689086 | A | C | 1 | a0001c0002t0002g0131 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.302-2790T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689086 | |||||||
| chr6:145689103 | A | G | 141 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(138): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.302-2807T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689103 | |||||||
| chr6:145689391 | A | T | 134 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(131): Show |
153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.302-3095T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689391 | |||||||
| chr6:145689464 | G | A | 4 | a0001c0002t0002g0016 a0001c0002t0002g0103 a0001c0002t0002g0104 others(1): Show |
5 | HG02109.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-3168C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689464 | |||||||
| chr6:145689509 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.302-3213T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689509 | |||||||
| chr6:145689596 | A | G | 2 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | NA18953.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.302-3300T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689596 | |||||||
| chr6:145689672 | C | G | 1 | a0001c0002t0002g0069 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.302-3376G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689672 | |||||||
| chr6:145689785 | C | T | 1 | a0001c0001t0001g0267 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.302-3489G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689785 | |||||||
| chr6:145689856 | G | A | 4 | a0001c0002t0002g0016 a0001c0002t0002g0103 a0001c0002t0002g0104 others(1): Show |
5 | HG02109.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-3560C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689856 | |||||||
| chr6:145689928 | C | T | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.302-3632G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145689928 | |||||||
| chr6:145690022 | C | T | 24 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 others(21): Show |
32 | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.302-3726G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690022 | |||||||
| chr6:145690211 | G | C | 4 | a0001c0002t0002g0016 a0001c0002t0002g0103 a0001c0002t0002g0104 others(1): Show |
5 | HG02109.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-3915C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690211 | |||||||
| chr6:145690282 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-3986C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690282 | |||||||
| chr6:145690301 | G | A | 15 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(12): Show |
16 | HG01081.hp1 HG01433.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.302-4005C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690301 | |||||||
| chr6:145690304 | A | G | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.302-4008T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690304 | |||||||
| chr6:145690367 | G | A | 3 | a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0002t0002g0139 |
3 | HG02145.hp1 HG03453.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-4071C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690367 | |||||||
| chr6:145690495 | C | T | 1 | a0001c0002t0002g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.302-4199G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690495 | |||||||
| chr6:145690496 | G | A | 134 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(131): Show |
150 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.302-4200C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690496 | |||||||
| chr6:145690521 | GA | G | 39 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0223 others(36): Show |
40 | HG01081.hp1 HG01257.hp1 HG01433.hp2 others(37): Show |
intron_variant | MODIFIER | c.302-4226delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690521 | |||||||
| chr6:145690521 | GAA | G | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.302-4227_302-4226d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690521 | |||||||
| chr6:145690654 | G | A | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.302-4358C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690654 | |||||||
| chr6:145690654 | G | T | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.302-4358C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690654 | |||||||
| chr6:145690925 | T | C | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.302-4629A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690925 | |||||||
| chr6:145690965 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-4669C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690965 | |||||||
| chr6:145690976 | T | TA | 6 | a0001c0001t0001g0184 a0001c0002t0002g0139 a0001c0004t0006g0176 others(3): Show |
6 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-4681dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690976 | |||||||
| chr6:145690976 | TA | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0005g0275 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 HG04204.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-4681delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690976 | |||||||
| chr6:145690977 | A | T | 33 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(30): Show |
37 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.302-4681T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690977 | |||||||
| chr6:145690988 | A | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-4692T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145690988 | |||||||
| chr6:145691273 | G | A | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.302-4977C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691273 | |||||||
| chr6:145691375 | A | G | 1 | a0001c0002t0002g0069 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.302-5079T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691375 | |||||||
| chr6:145691407 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-5111T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691407 | |||||||
| chr6:145691458 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-5162C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691458 | |||||||
| chr6:145691504 | G | C | 1 | a0001c0002t0002g0019 | 2 | HG03704.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.302-5208C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691504 | |||||||
| chr6:145691619 | C | G | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.302-5323G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691619 | |||||||
| chr6:145691901 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-5605C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145691901 | |||||||
| chr6:145692018 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-5722A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692018 | |||||||
| chr6:145692456 | A | G | 141 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(138): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.302-6160T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692456 | |||||||
| chr6:145692601 | T | C | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.302-6305A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692601 | |||||||
| chr6:145692783 | T | C | 1 | a0001c0002t0002g0125 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.302-6487A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692783 | |||||||
| chr6:145692929 | GT | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-6634delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692929 | |||||||
| chr6:145692964 | G | C | 1 | a0001c0001t0003g0046 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.302-6668C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145692964 | |||||||
| chr6:145693032 | C | T | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.302-6736G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693032 | |||||||
| chr6:145693054 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-6758T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693054 | |||||||
| chr6:145693076 | T | C | 1 | a0001c0001t0001g0145 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.302-6780A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693076 | |||||||
| chr6:145693095 | G | C | 1 | a0001c0001t0001g0145 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.302-6799C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693095 | |||||||
| chr6:145693640 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-7344A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693640 | |||||||
| chr6:145693827 | C | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.302-7531G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145693827 | |||||||
| chr6:145694075 | T | C | 1 | a0001c0002t0002g0108 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.302-7779A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694075 | |||||||
| chr6:145694122 | T | C | 1 | a0007c0009t0003g0029 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.302-7826A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694122 | |||||||
| chr6:145694221 | A | G | 151 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(148): Show |
170 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(167): Show |
intron_variant | MODIFIER | c.302-7925T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694221 | |||||||
| chr6:145694281 | T | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.302-7985A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694281 | |||||||
| chr6:145694294 | A | C | 1 | a0001c0001t0001g0232 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.302-7998T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694294 | |||||||
| chr6:145694315 | T | C | 191 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(188): Show |
214 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(211): Show |
intron_variant | MODIFIER | c.302-8019A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694315 | |||||||
| chr6:145694349 | C | A | 16 | a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 others(13): Show |
24 | HG00609.hp2 HG02056.hp2 NA18942.hp1 others(21): Show |
intron_variant | MODIFIER | c.302-8053G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694349 | |||||||
| chr6:145694632 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.302-8336T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145694632 | |||||||
| chr6:145695225 | T | A | 2 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | HG02717.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.302-8929A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695225 | |||||||
| chr6:145695494 | TAA | T | 5 | a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show |
6 | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-9200_302-9199d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695494 | |||||||
| chr6:145695571 | A | G | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.302-9275T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695571 | |||||||
| chr6:145695614 | C | T | 1 | a0001c0002t0002g0092 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.302-9318G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695614 | |||||||
| chr6:145695732 | T | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-9436A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695732 | |||||||
| chr6:145695801 | C | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.302-9505G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695801 | |||||||
| chr6:145695841 | G | A | 9 | a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 others(6): Show |
9 | HG00609.hp1 HG02132.hp2 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.302-9545C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145695841 | |||||||
| chr6:145696531 | C | T | 1 | a0001c0002t0002g0018 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.302-10235G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696531 | |||||||
| chr6:145696534 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-10238T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696534 | |||||||
| chr6:145696548 | T | C | 2 | a0001c0001t0003g0048 a0001c0001t0003g0050 |
2 | HG02970.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.302-10252A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696548 | |||||||
| chr6:145696604 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-10308G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696604 | |||||||
| chr6:145696771 | G | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.302-10475C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696771 | |||||||
| chr6:145696772 | GGTATGTG others(3): Show |
G | 2 | a0001c0001t0001g0152 a0001c0002t0002g0137 |
2 | HG02818.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.302-10486_302-1047 others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696772 | |||||||
| chr6:145696772 | GGTATGTG others(5): Show |
G | 1 | a0001c0001t0001g0153 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.302-10488_302-1047 others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696772 | |||||||
| chr6:145696772 | GGTATGTG others(7): Show |
G | 3 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 |
3 | HG01891.hp1 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-10490_302-1047 others(18): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696772 | |||||||
| chr6:145696775 | A | ATG | 29 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0025 others(26): Show |
30 | HG00621.hp2 HG00738.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.302-10481_302-1048 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | A | ATGTG | 11 | a0001c0001t0001g0020 a0001c0001t0001g0146 a0001c0001t0001g0187 others(8): Show |
11 | HG01099.hp1 HG01257.hp1 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.302-10483_302-1048 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | A | ATGTGTGT others(3): Show |
1 | a0001c0001t0001g0028 | 2 | HG02809.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.302-10489_302-1048 others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATG | A | 63 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 others(60): Show |
67 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(64): Show |
intron_variant | MODIFIER | c.302-10481_302-1048 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTG | A | 36 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 others(33): Show |
37 | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.302-10483_302-1048 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTG | A | 41 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0022 others(38): Show |
47 | HG00280.hp2 HG00558.hp2 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.302-10485_302-1048 others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(1): Show |
A | 17 | a0001c0001t0001g0163 a0001c0001t0001g0199 a0001c0001t0001g0210 others(14): Show |
18 | HG01361.hp2 HG01884.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.302-10487_302-1048 others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(3): Show |
A | 11 | a0001c0001t0003g0051 a0001c0001t0004g0030 a0001c0001t0004g0031 others(8): Show |
11 | HG00735.hp2 HG01433.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.302-10489_302-1048 others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(5): Show |
A | 18 | a0001c0001t0001g0263 a0001c0001t0003g0012 a0001c0001t0003g0034 others(15): Show |
19 | HG01081.hp2 HG01109.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.302-10491_302-1048 others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(7): Show |
A | 7 | a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0036 others(4): Show |
9 | HG01123.hp2 HG02109.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.302-10493_302-1048 others(18): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(9): Show |
A | 6 | a0001c0001t0001g0191 a0001c0001t0003g0052 a0001c0001t0003g0054 others(3): Show |
6 | HG01081.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.302-10495_302-1048 others(20): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145696775 | ATGTGTGT others(11): Show |
A | 1 | a0001c0001t0003g0053 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.302-10497_302-1048 others(22): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145696775 | |||||||
| chr6:145697107 | C | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-10811G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697107 | |||||||
| chr6:145697120 | G | C | 1 | a0001c0001t0003g0041 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.302-10824C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697120 | |||||||
| chr6:145697279 | G | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-10983C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697279 | |||||||
| chr6:145697341 | A | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.302-11045T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697341 | |||||||
| chr6:145697381 | A | G | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.302-11085T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697381 | |||||||
| chr6:145697475 | G | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.302-11179C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697475 | |||||||
| chr6:145697515 | G | A | 2 | a0001c0002t0002g0082 a0001c0002t0013g0081 |
2 | HG00738.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.302-11219C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697515 | |||||||
| chr6:145697553 | T | C | 8 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0157 others(5): Show |
14 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(11): Show |
intron_variant | MODIFIER | c.302-11257A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697553 | |||||||
| chr6:145697581 | C | T | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.302-11285G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697581 | |||||||
| chr6:145697603 | C | T | 3 | a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0002t0002g0061 |
3 | HG02145.hp1 HG02572.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.302-11307G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697603 | |||||||
| chr6:145697615 | C | T | 1 | a0001c0001t0001g0267 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.302-11319G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697615 | |||||||
| chr6:145697741 | G | A | 1 | a0001c0001t0001g0250 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.302-11445C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697741 | |||||||
| chr6:145697744 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-11448G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697744 | |||||||
| chr6:145697745 | A | G | 154 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 others(151): Show |
166 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(163): Show |
intron_variant | MODIFIER | c.302-11449T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697745 | |||||||
| chr6:145697918 | T | A | 1 | a0008c0011t0001g0277 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.302-11622A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145697918 | |||||||
| chr6:145698001 | T | TCC | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0255 others(1): Show |
4 | HG01192.hp2 HG01361.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-11707_302-1170 others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698001 | |||||||
| chr6:145698097 | G | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-11801C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698097 | |||||||
| chr6:145698112 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-11816G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698112 | |||||||
| chr6:145698139 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-11843C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698139 | |||||||
| chr6:145698147 | G | A | 5 | a0001c0002t0002g0111 a0001c0004t0006g0176 a0001c0004t0006g0177 others(2): Show |
5 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-11851C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698147 | |||||||
| chr6:145698216 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-11920A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698216 | |||||||
| chr6:145698371 | G | A | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.302-12075C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698371 | |||||||
| chr6:145698405 | T | A | 1 | a0001c0002t0002g0134 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.302-12109A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698405 | |||||||
| chr6:145698443 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-12147G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698443 | |||||||
| chr6:145698550 | T | C | 1 | a0001c0002t0002g0134 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.302-12254A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698550 | |||||||
| chr6:145698553 | T | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.302-12257A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698553 | |||||||
| chr6:145698610 | GA | G | 146 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(143): Show |
163 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(160): Show |
intron_variant | MODIFIER | c.302-12315delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698610 | |||||||
| chr6:145698652 | G | A | 1 | a0001c0002t0002g0132 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.302-12356C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698652 | |||||||
| chr6:145698662 | T | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-12366A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698662 | |||||||
| chr6:145698740 | C | A | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.302-12444G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698740 | |||||||
| chr6:145698870 | C | A | 1 | a0001c0001t0001g0250 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.302-12574G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145698870 | |||||||
| chr6:145699152 | G | A | 1 | a0007c0009t0003g0029 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.302-12856C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145699152 | |||||||
| chr6:145699358 | T | C | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.302-13062A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145699358 | |||||||
| chr6:145699493 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-13197T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145699493 | |||||||
| chr6:145699553 | A | T | 1 | a0001c0001t0001g0234 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.302-13257T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145699553 | |||||||
| chr6:145699798 | G | A | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.302-13502C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145699798 | |||||||
| chr6:145700036 | T | C | 1 | a0001c0001t0001g0225 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.302-13740A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700036 | |||||||
| chr6:145700068 | T | G | 1 | a0001c0002t0002g0121 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.302-13772A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700068 | |||||||
| chr6:145700119 | A | T | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.302-13823T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700119 | |||||||
| chr6:145700276 | T | C | 5 | a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show |
6 | HG02258.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.302-13980A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700276 | |||||||
| chr6:145700427 | G | C | 1 | a0001c0001t0001g0226 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.302-14131C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700427 | |||||||
| chr6:145700521 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-14225A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700521 | |||||||
| chr6:145700552 | A | G | 1 | a0001c0001t0003g0041 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.302-14256T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700552 | |||||||
| chr6:145700557 | A | C | 4 | a0001c0001t0001g0195 a0001c0001t0009g0142 a0001c0001t0009g0143 others(1): Show |
4 | HG02145.hp1 HG02683.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-14261T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700557 | |||||||
| chr6:145700559 | A | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-14263T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700559 | |||||||
| chr6:145700849 | A | G | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.302-14553T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700849 | |||||||
| chr6:145700895 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-14599A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700895 | |||||||
| chr6:145700897 | A | G | 2 | a0001c0002t0002g0017 a0001c0002t0002g0129 |
3 | HG01074.hp1 HG01192.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.302-14601T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700897 | |||||||
| chr6:145700913 | C | T | 1 | a0001c0002t0002g0086 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.302-14617G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700913 | |||||||
| chr6:145700939 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-14643G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700939 | |||||||
| chr6:145700940 | G | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-14644C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145700940 | |||||||
| chr6:145701121 | G | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.302-14825C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701121 | |||||||
| chr6:145701128 | T | C | 1 | a0001c0001t0001g0264 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.302-14832A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701128 | |||||||
| chr6:145701363 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-15067G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701363 | |||||||
| chr6:145701364 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-15068C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701364 | |||||||
| chr6:145701395 | T | C | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.302-15099A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701395 | |||||||
| chr6:145701430 | T | C | 1 | a0001c0001t0001g0190 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.302-15134A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701430 | |||||||
| chr6:145701762 | T | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.302-15466A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701762 | |||||||
| chr6:145701832 | G | C | 3 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 |
3 | NA18950.hp2 NA18981.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.302-15536C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701832 | |||||||
| chr6:145701904 | C | T | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.302-15608G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701904 | |||||||
| chr6:145701914 | C | A | 179 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(176): Show |
200 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(197): Show |
intron_variant | MODIFIER | c.302-15618G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701914 | |||||||
| chr6:145701923 | C | T | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.302-15627G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701923 | |||||||
| chr6:145701938 | G | T | 5 | a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show |
6 | HG02258.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.302-15642C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145701938 | |||||||
| chr6:145702008 | A | G | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.302-15712T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702008 | |||||||
| chr6:145702190 | T | C | 173 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(170): Show |
195 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(192): Show |
intron_variant | MODIFIER | c.302-15894A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702190 | |||||||
| chr6:145702346 | T | C | 1 | a0001c0002t0002g0097 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.302-16050A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702346 | |||||||
| chr6:145702467 | C | CAAA | 18 | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0032 others(15): Show |
20 | HG01081.hp1 HG01081.hp2 HG01433.hp2 others(17): Show |
intron_variant | MODIFIER | c.302-16174_302-1617 others(7): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702467 | |||||||
| chr6:145702467 | C | CAAAA | 14 | a0001c0001t0003g0013 a0001c0001t0003g0037 a0001c0001t0003g0038 others(11): Show |
15 | HG01123.hp2 HG02055.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.302-16175_302-1617 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702467 | |||||||
| chr6:145702473 | G | A | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.302-16177C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702473 | |||||||
| chr6:145702476 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-16180C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702476 | |||||||
| chr6:145702931 | T | A | 1 | a0001c0002t0002g0083 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.302-16635A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702931 | |||||||
| chr6:145702984 | G | C | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.302-16688C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145702984 | |||||||
| chr6:145703110 | C | CT | 224 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(221): Show |
252 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(249): Show |
intron_variant | MODIFIER | c.302-16815_302-1681 others(5): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703110 | |||||||
| chr6:145703110 | C | T | 3 | a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 |
3 | HG02970.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.302-16814G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703110 | |||||||
| chr6:145703248 | C | T | 1 | a0001c0002t0002g0094 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.302-16952G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703248 | |||||||
| chr6:145703337 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-17041G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703337 | |||||||
| chr6:145703387 | G | C | 8 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0157 others(5): Show |
14 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(11): Show |
intron_variant | MODIFIER | c.302-17091C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703387 | |||||||
| chr6:145703468 | T | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.302-17172A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703468 | |||||||
| chr6:145703473 | T | C | 1 | a0001c0001t0001g0243 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.302-17177A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703473 | |||||||
| chr6:145703644 | C | T | 1 | a0001c0003t0001g0192 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.302-17348G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703644 | |||||||
| chr6:145703739 | T | C | 1 | a0001c0002t0002g0084 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.302-17443A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703739 | |||||||
| chr6:145703975 | G | A | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.302-17679C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703975 | |||||||
| chr6:145703990 | C | T | 3 | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 |
3 | HG02965.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.302-17694G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145703990 | |||||||
| chr6:145704219 | T | C | 1 | a0001c0002t0002g0066 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.302-17923A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704219 | |||||||
| chr6:145704220 | G | C | 1 | a0001c0001t0003g0010 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.302-17924C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704220 | |||||||
| chr6:145704225 | C | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-17929G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704225 | |||||||
| chr6:145704523 | T | G | 1 | a0001c0001t0001g0166 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.302-18227A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704523 | |||||||
| chr6:145704526 | C | T | 144 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(141): Show |
161 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(158): Show |
intron_variant | MODIFIER | c.302-18230G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704526 | |||||||
| chr6:145704527 | G | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.302-18231C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704527 | |||||||
| chr6:145704595 | T | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.302-18299A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704595 | |||||||
| chr6:145704748 | G | A | 1 | a0001c0001t0003g0046 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.302-18452C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704748 | |||||||
| chr6:145704887 | A | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-18591T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145704887 | |||||||
| chr6:145705358 | T | G | 36 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0010 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.302-19062A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145705358 | |||||||
| chr6:145705417 | G | A | 15 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
18 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.302-19121C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145705417 | |||||||
| chr6:145705782 | A | C | 1 | a0001c0001t0001g0020 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.302-19486T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145705782 | |||||||
| chr6:145705822 | A | G | 1 | a0001c0001t0001g0162 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.302-19526T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145705822 | |||||||
| chr6:145705932 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-19636C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145705932 | |||||||
| chr6:145706202 | C | T | 1 | a0001c0002t0002g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.302-19906G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145706202 | |||||||
| chr6:145706561 | C | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-20265G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145706561 | |||||||
| chr6:145706762 | G | A | 1 | a0001c0002t0002g0085 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.302-20466C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145706762 | |||||||
| chr6:145707004 | G | A | 1 | a0001c0001t0004g0033 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.302-20708C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707004 | |||||||
| chr6:145707127 | G | A | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.302-20831C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707127 | |||||||
| chr6:145707192 | C | T | 4 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(1): Show |
4 | HG02970.hp2 HG03041.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.302-20896G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707192 | |||||||
| chr6:145707631 | T | C | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.302-21335A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707631 | |||||||
| chr6:145707676 | T | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-21380A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707676 | |||||||
| chr6:145707934 | C | T | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.302-21638G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145707934 | |||||||
| chr6:145708032 | T | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-21736A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708032 | |||||||
| chr6:145708236 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-21940C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708236 | |||||||
| chr6:145708293 | C | T | 1 | a0001c0002t0002g0121 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.302-21997G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708293 | |||||||
| chr6:145708351 | T | C | 1 | a0001c0002t0002g0099 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.302-22055A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708351 | |||||||
| chr6:145708376 | C | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-22080G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708376 | |||||||
| chr6:145708551 | G | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.302-22255C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708551 | |||||||
| chr6:145708583 | T | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-22287A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708583 | |||||||
| chr6:145708590 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-22294A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708590 | |||||||
| chr6:145708697 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.302-22401C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708697 | |||||||
| chr6:145708784 | C | T | 2 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | NA18953.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.302-22488G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708784 | |||||||
| chr6:145708786 | C | CA | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-22491dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708786 | |||||||
| chr6:145708836 | G | A | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.302-22540C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708836 | |||||||
| chr6:145708888 | G | A | 24 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 others(21): Show |
32 | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.302-22592C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708888 | |||||||
| chr6:145708903 | A | G | 1 | a0001c0001t0001g0189 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.302-22607T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708903 | |||||||
| chr6:145708988 | T | C | 1 | a0001c0001t0001g0267 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.302-22692A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145708988 | |||||||
| chr6:145709316 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-23020A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709316 | |||||||
| chr6:145709357 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-23061C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709357 | |||||||
| chr6:145709412 | G | A | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.302-23116C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709412 | |||||||
| chr6:145709488 | G | A | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.302-23192C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709488 | |||||||
| chr6:145709762 | G | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-23466C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709762 | |||||||
| chr6:145709763 | A | C | 3 | a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0101 |
3 | NA18956.hp2 NA18998.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.302-23467T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709763 | |||||||
| chr6:145709778 | T | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.302-23482A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709778 | |||||||
| chr6:145709785 | G | C | 1 | a0001c0001t0001g0191 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.302-23489C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709785 | |||||||
| chr6:145709831 | A | C | 1 | a0001c0003t0001g0244 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.302-23535T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709831 | |||||||
| chr6:145709857 | G | A | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.302-23561C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709857 | |||||||
| chr6:145709903 | T | G | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.302-23607A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709903 | |||||||
| chr6:145709905 | G | A | 4 | a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0054 others(1): Show |
4 | HG02055.hp2 HG02258.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-23609C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709905 | |||||||
| chr6:145709953 | T | C | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.302-23657A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709953 | |||||||
| chr6:145709961 | T | G | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.302-23665A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709961 | |||||||
| chr6:145709968 | A | G | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
202 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(199): Show |
intron_variant | MODIFIER | c.302-23672T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145709968 | |||||||
| chr6:145710165 | T | A | 97 | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 others(94): Show |
104 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(101): Show |
intron_variant | MODIFIER | c.302-23869A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710165 | |||||||
| chr6:145710188 | G | A | 3 | a0001c0002t0002g0086 a0001c0002t0002g0134 a0001c0002t0002g0135 |
3 | HG02615.hp1 HG02976.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.302-23892C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710188 | |||||||
| chr6:145710317 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.302-24021C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710317 | |||||||
| chr6:145710359 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.302-24063G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710359 | |||||||
| chr6:145710448 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.302-24152C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710448 | |||||||
| chr6:145710464 | G | C | 1 | a0001c0001t0003g0043 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.302-24168C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710464 | |||||||
| chr6:145710475 | G | A | 2 | a0001c0002t0002g0137 a0001c0002t0002g0138 |
2 | HG02965.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.302-24179C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710475 | |||||||
| chr6:145710504 | C | T | 2 | a0001c0003t0001g0192 a0001c0003t0001g0251 |
2 | HG01169.hp1 HG01257.hp2 |
intron_variant | MODIFIER | c.302-24208G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710504 | |||||||
| chr6:145710553 | G | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.302-24257C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710553 | |||||||
| chr6:145710563 | C | T | 1 | a0001c0001t0001g0252 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.302-24267G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710563 | |||||||
| chr6:145710606 | C | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.302-24310G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710606 | |||||||
| chr6:145710671 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.302-24375A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710671 | |||||||
| chr6:145710819 | T | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+24379A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710819 | |||||||
| chr6:145710836 | C | G | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+24362G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145710836 | |||||||
| chr6:145711012 | C | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+24186G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711012 | |||||||
| chr6:145711170 | C | T | 1 | a0001c0001t0001g0145 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.301+24028G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711170 | |||||||
| chr6:145711228 | T | G | 1 | a0001c0002t0002g0087 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.301+23970A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711228 | |||||||
| chr6:145711302 | C | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+23896G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711302 | |||||||
| chr6:145711303 | G | A | 1 | a0001c0002t0002g0098 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.301+23895C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711303 | |||||||
| chr6:145711429 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+23769C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711429 | |||||||
| chr6:145711489 | G | C | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.301+23709C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711489 | |||||||
| chr6:145711552 | C | G | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.301+23646G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711552 | |||||||
| chr6:145711606 | T | C | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+23592A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711606 | |||||||
| chr6:145711664 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+23534C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711664 | |||||||
| chr6:145711832 | T | G | 1 | a0001c0004t0006g0178 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.301+23366A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145711832 | |||||||
| chr6:145712077 | A | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+23121T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712077 | |||||||
| chr6:145712155 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+23043C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712155 | |||||||
| chr6:145712209 | G | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+22989C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712209 | |||||||
| chr6:145712459 | A | G | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+22739T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712459 | |||||||
| chr6:145712789 | T | G | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+22409A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712789 | |||||||
| chr6:145712999 | A | G | 3 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0179 |
3 | HG02145.hp2 HG03209.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.301+22199T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145712999 | |||||||
| chr6:145713002 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+22196C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713002 | |||||||
| chr6:145713020 | C | G | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.301+22178G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713020 | |||||||
| chr6:145713037 | T | C | 1 | a0001c0001t0001g0184 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.301+22161A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713037 | |||||||
| chr6:145713050 | T | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+22148A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713050 | |||||||
| chr6:145713319 | T | A | 1 | a0001c0001t0003g0050 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.301+21879A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713319 | |||||||
| chr6:145713353 | A | T | 1 | a0001c0002t0002g0118 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.301+21845T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713353 | |||||||
| chr6:145713562 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+21636C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713562 | |||||||
| chr6:145713642 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+21556G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145713642 | |||||||
| chr6:145714159 | A | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+21039T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714159 | |||||||
| chr6:145714218 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+20980G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714218 | |||||||
| chr6:145714281 | A | G | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+20917T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714281 | |||||||
| chr6:145714284 | T | C | 1 | a0001c0002t0002g0099 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.301+20914A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714284 | |||||||
| chr6:145714301 | C | G | 2 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.301+20897G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714301 | |||||||
| chr6:145714329 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+20869A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714329 | |||||||
| chr6:145714434 | C | A | 7 | a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 others(4): Show |
7 | HG00544.hp2 HG01993.hp2 NA18959.hp1 others(4): Show |
intron_variant | MODIFIER | c.301+20764G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714434 | |||||||
| chr6:145714434 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.301+20764G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714434 | |||||||
| chr6:145714435 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.301+20763C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714435 | |||||||
| chr6:145714541 | T | G | 1 | a0001c0003t0001g0248 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.301+20657A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714541 | |||||||
| chr6:145714650 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+20548A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714650 | |||||||
| chr6:145714842 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+20356G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145714842 | |||||||
| chr6:145715000 | A | C | 4 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(1): Show |
4 | HG02970.hp2 HG03041.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+20198T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715000 | |||||||
| chr6:145715127 | A | ATACTTTA others(319): Show |
2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+20070_301+2007 others(330): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715127 | |||||||
| chr6:145715139 | T | TTTCTGTT others(15): Show |
1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+20037_301+2005 others(26): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715139 | |||||||
| chr6:145715339 | G | A | 1 | a0001c0001t0001g0230 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.301+19859C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715339 | |||||||
| chr6:145715638 | C | T | 1 | a0001c0001t0003g0043 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.301+19560G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715638 | |||||||
| chr6:145715663 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+19535G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715663 | |||||||
| chr6:145715664 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+19534C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715664 | |||||||
| chr6:145715693 | C | T | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.301+19505G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715693 | |||||||
| chr6:145715696 | A | C | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.301+19502T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715696 | |||||||
| chr6:145715705 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+19493G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715705 | |||||||
| chr6:145715709 | C | A | 3 | a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0175 |
3 | HG02129.hp2 NA18747.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.301+19489G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715709 | |||||||
| chr6:145715950 | G | A | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+19248C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715950 | |||||||
| chr6:145715969 | C | T | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.301+19229G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715969 | |||||||
| chr6:145715990 | A | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+19208T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145715990 | |||||||
| chr6:145716200 | G | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+18998C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716200 | |||||||
| chr6:145716413 | A | C | 1 | a0001c0001t0001g0175 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.301+18785T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716413 | |||||||
| chr6:145716451 | G | C | 4 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(1): Show |
4 | HG02970.hp2 HG03041.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+18747C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716451 | |||||||
| chr6:145716593 | C | T | 1 | a0001c0002t0002g0088 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.301+18605G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716593 | |||||||
| chr6:145716594 | G | A | 1 | a0001c0002t0002g0111 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.301+18604C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716594 | |||||||
| chr6:145716625 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+18573G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716625 | |||||||
| chr6:145716686 | G | A | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+18512C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716686 | |||||||
| chr6:145716900 | C | T | 1 | a0001c0003t0001g0192 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.301+18298G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145716900 | |||||||
| chr6:145717016 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+18182G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717016 | |||||||
| chr6:145717297 | G | A | 1 | a0001c0003t0001g0231 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.301+17901C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717297 | |||||||
| chr6:145717316 | C | T | 1 | a0001c0001t0003g0010 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.301+17882G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717316 | |||||||
| chr6:145717327 | A | G | 13 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(10): Show |
14 | HG01433.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.301+17871T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717327 | |||||||
| chr6:145717329 | A | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+17869T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717329 | |||||||
| chr6:145717462 | G | A | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.301+17736C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717462 | |||||||
| chr6:145717618 | G | A | 1 | a0001c0002t0002g0128 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.301+17580C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717618 | |||||||
| chr6:145717649 | A | G | 2 | a0001c0001t0001g0257 a0001c0001t0001g0258 |
2 | HG00621.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.301+17549T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717649 | |||||||
| chr6:145717718 | A | C | 209 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(206): Show |
235 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(232): Show |
intron_variant | MODIFIER | c.301+17480T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717718 | |||||||
| chr6:145717727 | T | G | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.301+17471A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717727 | |||||||
| chr6:145717822 | T | G | 134 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(131): Show |
151 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.301+17376A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717822 | |||||||
| chr6:145717840 | A | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+17358T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717840 | |||||||
| chr6:145717870 | T | A | 3 | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 |
3 | HG02965.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.301+17328A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717870 | |||||||
| chr6:145717871 | C | G | 7 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(4): Show |
7 | HG01891.hp1 HG02145.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.301+17327G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717871 | |||||||
| chr6:145717890 | A | T | 1 | a0001c0001t0001g0191 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.301+17308T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717890 | |||||||
| chr6:145717970 | G | A | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.301+17228C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145717970 | |||||||
| chr6:145718004 | G | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+17194C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718004 | |||||||
| chr6:145718104 | A | C | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+17094T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718104 | |||||||
| chr6:145718115 | C | G | 1 | a0001c0001t0001g0187 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.301+17083G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718115 | |||||||
| chr6:145718145 | G | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+17053C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718145 | |||||||
| chr6:145718187 | T | C | 2 | a0001c0002t0002g0007 a0001c0002t0002g0088 |
4 | NA18942.hp1 NA18968.hp1 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+17011A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718187 | |||||||
| chr6:145718188 | T | C | 2 | a0001c0002t0002g0007 a0001c0002t0002g0088 |
4 | NA18942.hp1 NA18968.hp1 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+17010A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718188 | |||||||
| chr6:145718189 | G | A | 2 | a0001c0002t0002g0007 a0001c0002t0002g0088 |
4 | NA18942.hp1 NA18968.hp1 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+17009C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718189 | |||||||
| chr6:145718297 | G | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(184): Show |
208 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(205): Show |
intron_variant | MODIFIER | c.301+16901C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718297 | |||||||
| chr6:145718303 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+16895C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718303 | |||||||
| chr6:145718404 | C | A | 2 | a0001c0002t0002g0137 a0001c0002t0002g0138 |
2 | HG02965.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.301+16794G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718404 | |||||||
| chr6:145718438 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+16760G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718438 | |||||||
| chr6:145718449 | A | C | 3 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0002t0002g0139 |
3 | HG01891.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.301+16749T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718449 | |||||||
| chr6:145718451 | T | C | 185 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(182): Show |
206 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(203): Show |
intron_variant | MODIFIER | c.301+16747A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718451 | |||||||
| chr6:145718555 | A | G | 9 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(6): Show |
12 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.301+16643T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718555 | |||||||
| chr6:145718850 | C | G | 12 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0156 others(9): Show |
18 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.301+16348G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718850 | |||||||
| chr6:145718920 | G | T | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.301+16278C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718920 | |||||||
| chr6:145718952 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+16246A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145718952 | |||||||
| chr6:145719074 | C | G | 1 | a0001c0001t0001g0023 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.301+16124G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719074 | |||||||
| chr6:145719083 | A | T | 2 | a0001c0002t0002g0006 a0001c0002t0002g0066 |
4 | NA18960.hp1 NA18973.hp1 NA18977.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+16115T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719083 | |||||||
| chr6:145719246 | G | C | 3 | a0001c0001t0001g0028 a0001c0001t0001g0232 a0001c0001t0001g0233 |
4 | HG02809.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+15952C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719246 | |||||||
| chr6:145719260 | G | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+15938C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719260 | |||||||
| chr6:145719327 | A | G | 1 | a0001c0004t0006g0176 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.301+15871T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719327 | |||||||
| chr6:145719338 | T | C | 1 | a0001c0001t0001g0162 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.301+15860A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719338 | |||||||
| chr6:145719414 | T | C | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+15784A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719414 | |||||||
| chr6:145719486 | G | C | 14 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(11): Show |
14 | HG00609.hp1 HG02015.hp2 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.301+15712C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719486 | |||||||
| chr6:145719575 | A | C | 1 | a0001c0002t0002g0017 | 2 | HG01074.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.301+15623T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719575 | |||||||
| chr6:145719625 | T | TAATA | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+15569_301+1557 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719625 | |||||||
| chr6:145719886 | G | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+15312C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719886 | |||||||
| chr6:145719951 | G | GT | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.301+15246dupA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145719951 | |||||||
| chr6:145720131 | G | A | 1 | a0001c0002t0002g0129 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.301+15067C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720131 | |||||||
| chr6:145720145 | G | A | 6 | a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 others(3): Show |
6 | HG00735.hp1 HG01069.hp1 HG01070.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+15053C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720145 | |||||||
| chr6:145720214 | T | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+14984A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720214 | |||||||
| chr6:145720241 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+14957A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720241 | |||||||
| chr6:145720266 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+14932G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720266 | |||||||
| chr6:145720386 | T | C | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.301+14812A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720386 | |||||||
| chr6:145720937 | G | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+14261C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720937 | |||||||
| chr6:145720969 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.301+14229G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720969 | |||||||
| chr6:145720988 | C | A | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.301+14210G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145720988 | |||||||
| chr6:145721128 | A | G | 1 | a0001c0002t0002g0140 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.301+14070T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721128 | |||||||
| chr6:145721158 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+14040C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721158 | |||||||
| chr6:145721422 | T | C | 130 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(127): Show |
147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.301+13776A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721422 | |||||||
| chr6:145721424 | G | C | 3 | a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0141 |
3 | HG01074.hp2 HG01123.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.301+13774C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721424 | |||||||
| chr6:145721586 | G | A | 1 | a0001c0001t0001g0249 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.301+13612C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721586 | |||||||
| chr6:145721920 | A | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+13278T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721920 | |||||||
| chr6:145721950 | T | C | 1 | a0001c0001t0001g0250 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.301+13248A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145721950 | |||||||
| chr6:145722037 | G | A | 1 | a0001c0001t0009g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.301+13161C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722037 | |||||||
| chr6:145722099 | T | C | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG01069.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.301+13099A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722099 | |||||||
| chr6:145722133 | A | T | 3 | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 |
3 | HG02965.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.301+13065T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722133 | |||||||
| chr6:145722314 | G | A | 1 | a0001c0002t0002g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.301+12884C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722314 | |||||||
| chr6:145722356 | T | C | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+12842A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722356 | |||||||
| chr6:145722516 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+12682A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722516 | |||||||
| chr6:145722568 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+12630A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722568 | |||||||
| chr6:145722573 | A | C | 1 | a0001c0002t0002g0120 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.301+12625T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722573 | |||||||
| chr6:145722583 | C | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+12615G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722583 | |||||||
| chr6:145722668 | A | G | 4 | a0001c0002t0002g0001 a0001c0002t0002g0062 a0001c0002t0002g0064 others(1): Show |
8 | NA18950.hp1 NA18953.hp1 NA18959.hp2 others(5): Show |
intron_variant | MODIFIER | c.301+12530T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145722668 | |||||||
| chr6:145723100 | T | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+12098A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723100 | |||||||
| chr6:145723211 | G | C | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.301+11987C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723211 | |||||||
| chr6:145723268 | G | C | 1 | a0001c0001t0003g0051 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.301+11930C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723268 | |||||||
| chr6:145723359 | GAAGA | G | 4 | a0001c0001t0001g0024 a0001c0001t0001g0150 a0001c0001t0001g0151 others(1): Show |
5 | HG01891.hp1 HG01978.hp1 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.301+11835_301+1183 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723359 | |||||||
| chr6:145723491 | T | G | 1 | a0004c0008t0002g0130 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.301+11707A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723491 | |||||||
| chr6:145723539 | C | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+11659G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723539 | |||||||
| chr6:145723611 | G | T | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+11587C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723611 | |||||||
| chr6:145723612 | C | T | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+11586G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723612 | |||||||
| chr6:145723630 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+11568A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723630 | |||||||
| chr6:145723895 | G | A | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.301+11303C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723895 | |||||||
| chr6:145723937 | A | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+11261T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145723937 | |||||||
| chr6:145724154 | C | A | 1 | a0001c0001t0001g0185 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.301+11044G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724154 | |||||||
| chr6:145724200 | C | A | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+10998G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724200 | |||||||
| chr6:145724284 | T | C | 1 | a0001c0001t0001g0172 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.301+10914A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724284 | |||||||
| chr6:145724551 | C | A | 1 | a0008c0011t0001g0277 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.301+10647G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724551 | |||||||
| chr6:145724595 | A | G | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.301+10603T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724595 | |||||||
| chr6:145724635 | G | T | 1 | a0001c0001t0001g0144 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.301+10563C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724635 | |||||||
| chr6:145724755 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+10443T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724755 | |||||||
| chr6:145724767 | T | C | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+10431A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724767 | |||||||
| chr6:145724912 | A | G | 19 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(16): Show |
24 | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.301+10286T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724912 | |||||||
| chr6:145724913 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0001g0151 |
2 | HG01891.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.301+10285G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145724913 | |||||||
| chr6:145725147 | GAACA | G | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.301+10047_301+1005 others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725147 | |||||||
| chr6:145725188 | T | A | 3 | a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0172 |
4 | HG00741.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+10010A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725188 | |||||||
| chr6:145725245 | C | G | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.301+9953G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725245 | |||||||
| chr6:145725292 | T | A | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+9906A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725292 | |||||||
| chr6:145725458 | T | A | 1 | a0001c0003t0001g0251 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.301+9740A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725458 | |||||||
| chr6:145725611 | G | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+9587C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725611 | |||||||
| chr6:145725683 | C | A | 3 | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 |
3 | HG02965.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.301+9515G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725683 | |||||||
| chr6:145725745 | T | C | 1 | a0001c0002t0002g0091 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.301+9453A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725745 | |||||||
| chr6:145725815 | T | C | 1 | a0001c0001t0007g0173 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.301+9383A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145725815 | |||||||
| chr6:145726012 | G | A | 2 | a0001c0002t0002g0134 a0001c0002t0002g0135 |
2 | HG02615.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.301+9186C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726012 | |||||||
| chr6:145726331 | G | T | 1 | a0001c0001t0001g0256 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.301+8867C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726331 | |||||||
| chr6:145726373 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+8825G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726373 | |||||||
| chr6:145726458 | ACTT | A | 3 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 |
3 | HG02015.hp2 HG02040.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.301+8737_301+8739d others(5): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726458 | |||||||
| chr6:145726516 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+8682C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726516 | |||||||
| chr6:145726961 | C | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+8237G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726961 | |||||||
| chr6:145727035 | G | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+8163C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727035 | |||||||
| chr6:145727210 | G | A | 1 | a0001c0002t0002g0092 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.301+7988C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727210 | |||||||
| chr6:145727245 | G | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+7953C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727245 | |||||||
| chr6:145727298 | A | G | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+7900T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727298 | |||||||
| chr6:145727601 | T | C | 143 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(140): Show |
160 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.301+7597A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727601 | |||||||
| chr6:145727735 | C | G | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+7463G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727735 | |||||||
| chr6:145727771 | G | C | 1 | a0001c0001t0003g0052 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.301+7427C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727771 | |||||||
| chr6:145727776 | C | T | 1 | a0001c0001t0001g0190 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.301+7422G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727776 | |||||||
| chr6:145727876 | C | T | 36 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(33): Show |
40 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(37): Show |
intron_variant | MODIFIER | c.301+7322G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727876 | |||||||
| chr6:145727911 | GTGAGAGA others(26): Show |
G | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+7254_301+7286d others(35): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727911 | |||||||
| chr6:145727915 | G | C | 15 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(12): Show |
16 | HG01081.hp1 HG01433.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.301+7283C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727915 | |||||||
| chr6:145727917 | G | A | 131 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(128): Show |
148 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.301+7281C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727917 | |||||||
| chr6:145727919 | C | T | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+7279G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727919 | |||||||
| chr6:145727922 | T | C | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+7276A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727922 | |||||||
| chr6:145727996 | G | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+7202C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145727996 | |||||||
| chr6:145728141 | A | G | 12 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0156 others(9): Show |
18 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.301+7057T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728141 | |||||||
| chr6:145728232 | A | G | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+6966T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728232 | |||||||
| chr6:145728300 | T | C | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+6898A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728300 | |||||||
| chr6:145728354 | C | T | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+6844G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728354 | |||||||
| chr6:145728368 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+6830C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728368 | |||||||
| chr6:145728369 | T | C | 1 | a0001c0001t0004g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.301+6829A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728369 | |||||||
| chr6:145728375 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+6823C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728375 | |||||||
| chr6:145728419 | G | C | 1 | a0001c0002t0002g0131 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.301+6779C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728419 | |||||||
| chr6:145728509 | G | C | 1 | a0001c0002t0002g0113 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.301+6689C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728509 | |||||||
| chr6:145728881 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+6317G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145728881 | |||||||
| chr6:145729000 | G | C | 1 | a0001c0001t0001g0267 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.301+6198C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729000 | |||||||
| chr6:145729206 | A | G | 1 | a0001c0001t0001g0189 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.301+5992T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729206 | |||||||
| chr6:145729349 | G | A | 34 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show |
38 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.301+5849C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729349 | |||||||
| chr6:145729625 | AC | A | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.301+5572delG | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729625 | |||||||
| chr6:145729705 | T | C | 1 | a0001c0001t0008g0057 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.301+5493A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729705 | |||||||
| chr6:145729765 | C | T | 1 | a0001c0001t0001g0155 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.301+5433G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729765 | |||||||
| chr6:145729815 | G | A | 1 | a0001c0001t0001g0154 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.301+5383C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729815 | |||||||
| chr6:145729821 | G | A | 1 | a0001c0001t0001g0255 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.301+5377C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729821 | |||||||
| chr6:145729942 | T | C | 1 | a0001c0002t0002g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.301+5256A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729942 | |||||||
| chr6:145729943 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+5255G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729943 | |||||||
| chr6:145729956 | C | CCTACACA others(14): Show |
1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5241_301+5242i others(23): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729956 | |||||||
| chr6:145729957 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5241A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729957 | |||||||
| chr6:145729962 | A | T | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5236T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729962 | |||||||
| chr6:145729963 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5235A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729963 | |||||||
| chr6:145729964 | G | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5234C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729964 | |||||||
| chr6:145729967 | A | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5231T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729967 | |||||||
| chr6:145729971 | A | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5227T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729971 | |||||||
| chr6:145729974 | A | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5224T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729974 | |||||||
| chr6:145729978 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5220A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729978 | |||||||
| chr6:145729990 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.301+5208A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145729990 | |||||||
| chr6:145730057 | G | A | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+5141C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730057 | |||||||
| chr6:145730135 | T | C | 183 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(180): Show |
204 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.301+5063A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730135 | |||||||
| chr6:145730375 | T | C | 5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.301+4823A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730375 | |||||||
| chr6:145730428 | T | C | 12 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(9): Show |
12 | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(9): Show |
intron_variant | MODIFIER | c.301+4770A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730428 | |||||||
| chr6:145730670 | T | G | 1 | a0001c0002t0002g0132 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.301+4528A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730670 | |||||||
| chr6:145730727 | A | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+4471T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730727 | |||||||
| chr6:145730798 | C | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+4400G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730798 | |||||||
| chr6:145730816 | T | C | 1 | a0001c0001t0001g0266 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.301+4382A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730816 | |||||||
| chr6:145730872 | G | A | 1 | a0001c0002t0002g0134 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.301+4326C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145730872 | |||||||
| chr6:145731042 | G | A | 2 | a0001c0002t0002g0116 a0003c0007t0002g0115 |
2 | HG00639.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.301+4156C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731042 | |||||||
| chr6:145731075 | T | TA | 45 | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 others(42): Show |
49 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(46): Show |
intron_variant | MODIFIER | c.301+4122dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731075 | |||||||
| chr6:145731186 | C | T | 2 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | NA18953.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.301+4012G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731186 | |||||||
| chr6:145731615 | A | G | 35 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(32): Show |
39 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(36): Show |
intron_variant | MODIFIER | c.301+3583T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731615 | |||||||
| chr6:145731693 | T | C | 1 | a0001c0001t0001g0174 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.301+3505A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731693 | |||||||
| chr6:145731706 | T | C | 1 | a0007c0009t0003g0029 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.301+3492A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731706 | |||||||
| chr6:145731771 | C | CA | 9 | a0001c0002t0002g0015 a0001c0002t0002g0065 a0001c0002t0002g0094 others(6): Show |
10 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.301+3426dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731771 | |||||||
| chr6:145731793 | T | C | 1 | a0001c0001t0001g0175 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.301+3405A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731793 | |||||||
| chr6:145732201 | T | TTG | 27 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0036 others(24): Show |
29 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.301+2995_301+2996d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732201 | T | TTGTG | 5 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0002t0002g0118 others(2): Show |
5 | HG02559.hp1 HG02965.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.301+2993_301+2996d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732201 | T | TTGTGTGT others(1): Show |
5 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(2): Show |
5 | HG01891.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.301+2989_301+2996d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732201 | T | TTGTGTGT others(3): Show |
1 | a0001c0001t0001g0154 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.301+2987_301+2996d others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732201 | TTG | T | 43 | a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 others(40): Show |
55 | HG00280.hp1 HG00609.hp2 HG00738.hp1 others(52): Show |
intron_variant | MODIFIER | c.301+2995_301+2996d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732201 | TTGTG | T | 5 | a0001c0002t0002g0001 a0001c0002t0002g0062 a0001c0002t0002g0064 others(2): Show |
9 | HG03492.hp2 NA18950.hp1 NA18953.hp1 others(6): Show |
intron_variant | MODIFIER | c.301+2993_301+2996d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732201 | |||||||
| chr6:145732232 | TGTGTGC | T | 18 | a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0018 others(15): Show |
23 | HG00735.hp2 HG00741.hp2 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.301+2960_301+2965d others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732232 | |||||||
| chr6:145732234 | TGTGC | T | 3 | a0001c0001t0004g0033 a0001c0001t0009g0143 a0001c0002t0002g0133 |
3 | HG00642.hp2 HG02145.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.301+2960_301+2963d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732234 | |||||||
| chr6:145732236 | T | C | 2 | a0001c0001t0001g0155 a0001c0002t0002g0097 |
2 | HG02451.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.301+2962A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGC | 13 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0170 others(10): Show |
15 | HG00639.hp2 HG00738.hp2 HG01069.hp2 others(12): Show |
intron_variant | MODIFIER | c.301+2960_301+2961d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGC | 11 | a0001c0001t0001g0022 a0001c0001t0001g0165 a0001c0001t0001g0171 others(8): Show |
12 | HG00558.hp1 HG00741.hp1 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.301+2961_301+2962i others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGCGC | 8 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0186 others(5): Show |
10 | NA18747.hp1 NA18939.hp2 NA18950.hp2 others(7): Show |
intron_variant | MODIFIER | c.301+2961_301+2962i others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGTGC | 48 | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0028 others(45): Show |
55 | HG00558.hp2 HG00609.hp1 HG00621.hp2 others(52): Show |
intron_variant | MODIFIER | c.301+2961_301+2962i others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGTGTG others(1): Show |
36 | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0145 others(33): Show |
41 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.301+2961_301+2962i others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGTGTG others(3): Show |
13 | a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0156 others(10): Show |
13 | HG00438.hp2 HG00544.hp1 HG01993.hp2 others(10): Show |
intron_variant | MODIFIER | c.301+2961_301+2962i others(12): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGTGTG others(5): Show |
1 | a0001c0001t0001g0200 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.301+2961_301+2962i others(14): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | T | TGTGTGTG others(7): Show |
1 | a0001c0001t0001g0257 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.301+2961_301+2962i others(16): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732236 | TGC | T | 13 | a0001c0001t0003g0010 a0001c0001t0004g0035 a0001c0001t0009g0142 others(10): Show |
15 | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.301+2960_301+2961d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732236 | |||||||
| chr6:145732238 | C | T | 40 | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(37): Show |
43 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(40): Show |
intron_variant | MODIFIER | c.301+2960G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732238 | |||||||
| chr6:145732240 | C | T | 4 | a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.301+2958G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732240 | |||||||
| chr6:145732329 | G | A | 33 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(30): Show |
37 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.301+2869C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732329 | |||||||
| chr6:145732347 | T | C | 33 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(30): Show |
37 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.301+2851A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732347 | |||||||
| chr6:145732362 | G | A | 184 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(181): Show |
205 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(202): Show |
intron_variant | MODIFIER | c.301+2836C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732362 | |||||||
| chr6:145732399 | AAC | A | 5 | a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 others(2): Show |
5 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(2): Show |
intron_variant | MODIFIER | c.301+2797_301+2798d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732399 | |||||||
| chr6:145732409 | C | CAT | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02723.hp1 HG02818.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.301+2788_301+2789i others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732409 | |||||||
| chr6:145732409 | CACAT | C | 19 | a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show |
22 | HG01081.hp2 HG01123.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.301+2785_301+2788d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732409 | |||||||
| chr6:145732409 | CACATAT | C | 126 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(123): Show |
142 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.301+2783_301+2788d others(8): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732409 | |||||||
| chr6:145732409 | CACATATA others(1): Show |
C | 3 | a0001c0001t0001g0022 a0001c0001t0001g0174 a0001c0001t0001g0193 |
3 | HG02615.hp2 HG03225.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.301+2781_301+2788d others(10): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732409 | |||||||
| chr6:145732411 | C | CAT | 4 | a0001c0002t0002g0002 a0001c0002t0002g0082 a0001c0002t0002g0100 others(1): Show |
4 | HG01099.hp1 HG01346.hp2 HG02055.hp1 others(1): Show |
intron_variant | MODIFIER | c.301+2785_301+2786d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732411 | |||||||
| chr6:145732411 | C | T | 12 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(9): Show |
13 | HG01891.hp1 HG02109.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.301+2787G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732411 | |||||||
| chr6:145732411 | CAT | C | 12 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0002t0002g0018 others(9): Show |
15 | HG00639.hp1 HG01069.hp2 HG01515.hp1 others(12): Show |
intron_variant | MODIFIER | c.301+2785_301+2786d others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732411 | |||||||
| chr6:145732411 | CATAT | C | 20 | a0001c0001t0003g0011 a0001c0001t0003g0032 a0001c0001t0003g0041 others(17): Show |
21 | HG01081.hp1 HG01433.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.301+2783_301+2786d others(6): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732411 | |||||||
| chr6:145732417 | T | C | 1 | a0001c0001t0004g0055 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.301+2781A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732417 | |||||||
| chr6:145732559 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+2639A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732559 | |||||||
| chr6:145732681 | C | G | 33 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(30): Show |
37 | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.301+2517G>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145732681 | |||||||
| chr6:145733102 | T | C | 1 | a0001c0002t0002g0119 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.301+2096A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733102 | |||||||
| chr6:145733105 | A | C | 1 | a0001c0001t0001g0186 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.301+2093T>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733105 | |||||||
| chr6:145733198 | A | G | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+2000T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733198 | |||||||
| chr6:145733202 | G | A | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+1996C>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733202 | |||||||
| chr6:145733294 | T | G | 132 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(129): Show |
149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.301+1904A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733294 | |||||||
| chr6:145733306 | TA | T | 137 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(134): Show |
154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.301+1891delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733306 | |||||||
| chr6:145733507 | G | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+1691C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733507 | |||||||
| chr6:145733559 | T | G | 208 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(205): Show |
234 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(231): Show |
intron_variant | MODIFIER | c.301+1639A>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733559 | |||||||
| chr6:145733852 | T | C | 2 | a0001c0001t0008g0056 a0001c0001t0008g0057 |
2 | HG01081.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.301+1346A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733852 | |||||||
| chr6:145733858 | AT | A | 8 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0180 others(5): Show |
10 | HG01978.hp1 HG01981.hp2 HG02273.hp1 others(7): Show |
intron_variant | MODIFIER | c.301+1339delA | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733858 | |||||||
| chr6:145733922 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+1276T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145733922 | |||||||
| chr6:145734054 | T | TA | 98 | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 others(95): Show |
105 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.301+1143dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734054 | |||||||
| chr6:145734055 | A | T | 1 | a0001c0002t0002g0061 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.301+1143T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734055 | |||||||
| chr6:145734062 | A | T | 1 | a0001c0001t0009g0142 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.301+1136T>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734062 | |||||||
| chr6:145734108 | G | T | 1 | a0001c0002t0002g0060 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.301+1090C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734108 | |||||||
| chr6:145734184 | A | G | 1 | a0001c0002t0002g0059 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.301+1014T>C | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734184 | |||||||
| chr6:145734644 | T | C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+554A>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734644 | |||||||
| chr6:145734796 | G | T | 7 | a0001c0001t0001g0020 a0001c0001t0001g0144 a0001c0001t0001g0145 others(4): Show |
8 | HG01891.hp2 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.301+402C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734796 | |||||||
| chr6:145734824 | G | T | 2 | a0001c0001t0009g0142 a0001c0001t0009g0143 |
2 | HG02145.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.301+374C>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734824 | |||||||
| chr6:145734853 | C | A | 1 | a0001c0001t0001g0270 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.301+345G>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734853 | |||||||
| chr6:145734873 | C | T | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+325G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734873 | |||||||
| chr6:145734988 | G | C | 1 | a0001c0002t0002g0141 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.301+210C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145734988 | |||||||
| chr6:145735101 | CCGGGGCC others(2): Show |
C | 6 | a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0274 others(3): Show |
6 | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.301+88_301+96delCA others(7): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145735101 |