| 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 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 331 | 305 | 86 | 43 | 132 | 10 | 32 | 102 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0002 | 0/0 | 331 | 6 | 0 | 0 | 6 | 0 | 0 | 4 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0003 | 0/0 | 331 | 3 | 1 | 0 | 0 | 1 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0004 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0005 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0006 | 0/0 | 331 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0007 | 0/0 | 331 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0008 | 0/0 | 331 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0009 | 0/0 | 95 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 996 | 172 | 63 | 17 | 81 | 4 | 7 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0002 | 1/1 | 996 | 111 | 19 | 15 | 50 | 6 | 19 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0003 | 0/0 | 996 | 17 | 0 | 11 | 0 | 0 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0004 | 0/0 | 996 | 6 | 0 | 0 | 6 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0005 | 0/0 | 996 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0006 | 0/0 | 996 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0007 | 0/0 | 964 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0008 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0009 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0010 | 0/0 | 996 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0011 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0012 | 0/0 | 996 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| c0013 | 0/0 | 996 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 2134 | 148 | 30 | 23 | 78 | 3 | 13 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0002 | 0/1 | 2134 | 113 | 19 | 16 | 50 | 7 | 20 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0003 | 0/0 | 2134 | 30 | 28 | 2 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0004 | 0/0 | 2134 | 5 | 4 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0005 | 0/0 | 2139 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0006 | 0/0 | 2134 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0007 | 0/0 | 2134 | 3 | 0 | 2 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0008 | 0/0 | 2134 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0009 | 0/0 | 2134 | 2 | 1 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0010 | 0/0 | 2134 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0011 | 0/0 | 2139 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0012 | 0/0 | 2134 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0013 | 0/0 | 2134 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0014 | 0/0 | 2134 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0015 | 0/0 | 2134 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| t0016 | 0/0 | 2134 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0005 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0010 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0011 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0016 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0017 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0108 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0117 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 996 | 172 | 63 | 17 | 81 | 4 | 7 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002 | 1/1 | 996 | 111 | 19 | 15 | 50 | 6 | 19 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0003 | 0/0 | 996 | 17 | 0 | 11 | 0 | 0 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0005 | 0/0 | 996 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0013 | 0/0 | 996 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0002c0004 | 0/0 | 996 | 6 | 0 | 0 | 6 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0003c0006 | 0/0 | 996 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0004c0008 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0005c0009 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0006c0011 | 0/0 | 996 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0007c0010 | 0/0 | 996 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0008c0012 | 0/0 | 996 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0009c0007 | 0/0 | 964 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | 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 | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0003 | 0/0 | 3129 | 29 | 27 | 2 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0004 | 0/0 | 3129 | 5 | 4 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0007 | 0/0 | 3129 | 3 | 0 | 2 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0008 | 0/0 | 3129 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0009 | 0/0 | 3129 | 2 | 1 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0010 | 0/0 | 3129 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0001t0014 | 0/0 | 3129 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002t0001 | 1/0 | 3129 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002t0002 | 0/1 | 3129 | 107 | 18 | 14 | 49 | 6 | 19 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002t0012 | 0/0 | 3129 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002t0013 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0002t0016 | 0/0 | 3129 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0003t0001 | 0/0 | 3129 | 17 | 0 | 11 | 0 | 0 | 6 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0005t0006 | 0/0 | 3129 | 4 | 4 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0001c0013t0002 | 0/0 | 3129 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0002c0004t0005 | 0/0 | 3134 | 5 | 0 | 0 | 5 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0002c0004t0011 | 0/0 | 3134 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0003c0006t0002 | 0/0 | 3129 | 3 | 1 | 0 | 0 | 1 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0004c0008t0002 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0005c0009t0002 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0006c0011t0001 | 0/0 | 3129 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0007c0010t0003 | 0/0 | 3129 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0008c0012t0001 | 0/0 | 3129 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| a0009c0007t0015 | 0/0 | 3097 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | copy fasta | chr6 | 145620305 | 145740520 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0017 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0018 | 0/0 | 2 | 0 | 0 | 2 | 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 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 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 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 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 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0179 | 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 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 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 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 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 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | 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 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 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 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 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 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 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 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0005 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0003g0033 | 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 | 1 | 0 | 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 |
| a0001c0001t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0004g0034 | 0/0 | 1 | 0 | 1 | 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 |
| a0001c0001t0004g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0007g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0008g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0008g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0009g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0009g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0010g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0010g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0001t0014g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0001g0117 | 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 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0010 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0011 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0060 | 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 |
| a0001c0002t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 |
| a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0 | 0 | 1 | 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 |
| a0001c0002t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | 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 | 1 | 0 | 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 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| 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 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 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 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 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 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0002g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0012g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0013g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0002t0016g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0016 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | 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 |
| a0001c0003t0001g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
| a0001c0003t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0003t0001g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0005t0006g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0005t0006g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0005t0006g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0005t0006g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0001c0013t0002g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0005g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0005g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0005g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0005g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0005g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0002c0004t0011g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0003c0006t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0003c0006t0002g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0003c0006t0002g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0004c0008t0002g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0005c0009t0002g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0006c0011t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0007c0010t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0008c0012t0001g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| a0009c0007t0015g0048 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | 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 | g0098 | EUR | FIN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00280 | hp2 | a0001 | c0001 | t0007 | g0184 | EUR | FIN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00438 | hp1 | a0001 | c0001 | t0010 | g0180 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0286 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0279 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00558 | hp1 | a0001 | c0001 | t0014 | g0215 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0241 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00609 | hp2 | a0001 | c0002 | t0002 | g0085 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0288 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | CHS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00639 | hp1 | a0004 | c0008 | t0002 | g0122 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00642 | hp1 | a0001 | c0003 | t0001 | g0228 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00642 | hp2 | a0001 | c0002 | t0002 | g0142 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00735 | hp1 | a0001 | c0003 | t0001 | g0276 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00735 | hp2 | a0001 | c0002 | t0002 | g0140 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00738 | hp1 | a0001 | c0002 | t0013 | g0093 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0210 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0173 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG00741 | hp2 | a0001 | c0002 | t0002 | g0137 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01069 | hp1 | a0001 | c0003 | t0001 | g0252 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0168 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01070 | hp1 | a0001 | c0002 | t0002 | g0103 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01070 | hp2 | a0001 | c0003 | t0001 | g0249 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0010 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01074 | hp2 | a0001 | c0002 | t0002 | g0151 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01081 | hp1 | a0001 | c0001 | t0008 | g0046 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01081 | hp2 | a0001 | c0001 | t0003 | g0005 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01099 | hp1 | a0001 | c0002 | t0002 | g0063 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01099 | hp2 | a0001 | c0001 | t0007 | g0183 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0070 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01109 | hp2 | a0005 | c0009 | t0002 | g0139 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01169 | hp1 | a0001 | c0003 | t0001 | g0222 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01169 | hp2 | a0001 | c0003 | t0001 | g0231 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01192 | hp1 | a0001 | c0002 | t0002 | g0138 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0218 | AMR | PUR | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01255 | hp1 | a0001 | c0003 | t0001 | g0235 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01255 | hp2 | a0001 | c0002 | t0002 | g0084 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01257 | hp1 | a0001 | c0002 | t0002 | g0094 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01257 | hp2 | a0001 | c0003 | t0001 | g0254 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01346 | hp1 | a0006 | c0011 | t0001 | g0208 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01346 | hp2 | a0001 | c0002 | t0002 | g0064 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0223 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01361 | hp2 | a0001 | c0001 | t0007 | g0186 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01433 | hp1 | a0001 | c0003 | t0001 | g0229 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01433 | hp2 | a0001 | c0001 | t0004 | g0034 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01515 | hp1 | a0001 | c0002 | t0002 | g0011 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01515 | hp2 | a0009 | c0007 | t0015 | g0048 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0232 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01516 | hp2 | a0003 | c0006 | t0002 | g0056 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01517 | hp1 | a0001 | c0002 | t0002 | g0011 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0233 | EUR | IBS | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01884 | hp1 | a0001 | c0001 | t0003 | g0005 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01884 | hp2 | a0001 | c0002 | t0002 | g0133 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01978 | hp2 | a0001 | c0003 | t0001 | g0251 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0253 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0199 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01993 | hp1 | a0001 | c0002 | t0002 | g0100 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0284 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02015 | hp1 | a0001 | c0002 | t0002 | g0107 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0255 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02055 | hp1 | a0001 | c0002 | t0012 | g0061 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02055 | hp2 | a0001 | c0001 | t0003 | g0020 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02056 | hp2 | a0001 | c0013 | t0002 | g0297 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0280 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0263 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02132 | hp1 | a0001 | c0002 | t0002 | g0088 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02135 | hp2 | a0002 | c0004 | t0005 | g0052 | EAS | KHV | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02145 | hp1 | a0001 | c0001 | t0009 | g0153 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02145 | hp2 | a0001 | c0005 | t0006 | g0198 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02155 | hp1 | a0002 | c0004 | t0005 | g0054 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0245 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02165 | hp2 | a0001 | c0002 | t0002 | g0118 | EAS | CDX | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0156 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02257 | hp2 | a0003 | c0006 | t0002 | g0057 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02258 | hp1 | a0007 | c0010 | t0003 | g0019 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0205 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02273 | hp2 | a0001 | c0003 | t0001 | g0230 | AMR | PEL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02451 | hp1 | a0001 | c0001 | t0008 | g0047 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0033 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02572 | hp2 | a0001 | c0002 | t0002 | g0060 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02615 | hp1 | a0001 | c0002 | t0002 | g0144 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02622 | hp1 | a0001 | c0002 | t0002 | g0150 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02630 | hp1 | a0001 | c0001 | t0003 | g0022 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0154 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02647 | hp2 | a0001 | c0002 | t0002 | g0066 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0209 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02683 | hp2 | a0001 | c0002 | t0002 | g0129 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0039 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0160 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0163 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0025 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02735 | hp1 | a0001 | c0003 | t0001 | g0250 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02735 | hp2 | a0001 | c0002 | t0002 | g0082 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02809 | hp1 | a0001 | c0001 | t0004 | g0045 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0237 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02818 | hp2 | a0001 | c0001 | t0003 | g0040 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0007 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02895 | hp2 | a0001 | c0002 | t0002 | g0008 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02896 | hp1 | a0001 | c0001 | t0003 | g0004 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02896 | hp2 | a0001 | c0002 | t0002 | g0008 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02897 | hp1 | a0001 | c0001 | t0003 | g0007 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02897 | hp2 | a0001 | c0001 | t0003 | g0004 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02965 | hp2 | a0001 | c0002 | t0002 | g0148 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0038 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02970 | hp2 | a0001 | c0001 | t0003 | g0042 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02976 | hp1 | a0001 | c0001 | t0003 | g0006 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02976 | hp2 | a0001 | c0002 | t0002 | g0143 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03017 | hp1 | a0001 | c0003 | t0001 | g0224 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03017 | hp2 | a0001 | c0002 | t0002 | g0124 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03041 | hp1 | a0001 | c0005 | t0006 | g0197 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0043 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0172 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03098 | hp2 | a0001 | c0001 | t0003 | g0030 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0191 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03195 | hp2 | a0001 | c0001 | t0004 | g0031 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0147 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03209 | hp2 | a0001 | c0005 | t0006 | g0196 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0193 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03225 | hp2 | a0001 | c0001 | t0003 | g0026 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03239 | hp1 | a0001 | c0002 | t0002 | g0116 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0283 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03453 | hp1 | a0001 | c0002 | t0002 | g0145 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03453 | hp2 | a0001 | c0001 | t0004 | g0035 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03486 | hp1 | a0001 | c0001 | t0003 | g0036 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03486 | hp2 | a0001 | c0005 | t0006 | g0195 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03491 | hp1 | a0001 | c0003 | t0001 | g0016 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03491 | hp2 | a0001 | c0002 | t0002 | g0105 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03492 | hp1 | a0001 | c0003 | t0001 | g0016 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03492 | hp2 | a0001 | c0002 | t0002 | g0074 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03516 | hp2 | a0001 | c0002 | t0002 | g0065 | AFR | ESN | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0236 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03540 | hp2 | a0001 | c0002 | t0002 | g0058 | AFR | GWD | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03579 | hp2 | a0001 | c0001 | t0003 | g0037 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03654 | hp1 | a0001 | c0001 | t0009 | g0152 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03654 | hp2 | a0001 | c0002 | t0002 | g0078 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03669 | hp1 | a0001 | c0002 | t0002 | g0146 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0225 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03704 | hp1 | a0001 | c0002 | t0002 | g0134 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0104 | SAS | PJL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0220 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03834 | hp2 | a0001 | c0002 | t0002 | g0110 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03927 | hp1 | a0001 | c0002 | t0002 | g0136 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03927 | hp2 | a0001 | c0002 | t0002 | g0095 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03942 | hp1 | a0003 | c0006 | t0002 | g0055 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0294 | SAS | BEB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0113 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04115 | hp2 | a0001 | c0003 | t0001 | g0227 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04199 | hp1 | a0001 | c0002 | t0002 | g0135 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04199 | hp2 | a0008 | c0012 | t0001 | g0296 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04204 | hp1 | a0001 | c0002 | t0002 | g0109 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04204 | hp2 | a0001 | c0002 | t0002 | g0059 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04228 | hp1 | a0001 | c0003 | t0001 | g0234 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG04228 | hp2 | a0001 | c0002 | t0002 | g0120 | SAS | STU | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0295 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18612 | hp2 | a0001 | c0001 | t0010 | g0178 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | CHB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0021 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0238 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18939 | hp1 | a0001 | c0002 | t0002 | g0102 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0289 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18942 | hp1 | a0001 | c0002 | t0002 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18943 | hp1 | a0001 | c0002 | t0002 | g0106 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0268 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18948 | hp1 | a0001 | c0002 | t0002 | g0132 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0187 | 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 | g0292 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18952 | hp1 | a0001 | c0002 | t0002 | g0081 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0013 | 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 | g0214 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0290 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18956 | hp2 | a0001 | c0002 | t0002 | g0111 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18959 | hp2 | a0001 | c0002 | t0016 | g0073 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18960 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18963 | hp2 | a0002 | c0004 | t0005 | g0051 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0257 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18964 | hp2 | a0001 | c0002 | t0002 | g0112 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0261 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18966 | hp1 | a0001 | c0002 | t0002 | g0115 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18968 | hp1 | a0001 | c0002 | t0002 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0275 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18970 | hp2 | a0001 | c0002 | t0002 | g0009 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18973 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0267 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18977 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0179 | 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 | g0259 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0291 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0285 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18982 | hp2 | a0001 | c0002 | t0002 | g0128 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0277 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18984 | hp1 | a0001 | c0002 | t0002 | g0080 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18988 | hp1 | a0001 | c0002 | t0002 | g0091 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18990 | hp2 | a0001 | c0002 | t0002 | g0097 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18998 | hp1 | a0001 | c0002 | t0002 | g0076 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0269 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19000 | hp1 | a0001 | c0002 | t0002 | g0092 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19001 | hp2 | a0001 | c0002 | t0002 | g0079 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19002 | hp2 | a0002 | c0004 | t0005 | g0053 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19003 | hp1 | a0002 | c0004 | t0011 | g0050 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0293 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19007 | hp1 | a0001 | c0002 | t0002 | g0009 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19009 | hp2 | a0001 | c0002 | t0002 | g0089 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19010 | hp1 | a0001 | c0002 | t0002 | g0062 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0287 | 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 | g0204 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0068 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19030 | hp2 | a0001 | c0001 | t0003 | g0028 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0164 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19043 | hp2 | a0001 | c0001 | t0003 | g0044 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19056 | hp1 | a0001 | c0002 | t0002 | g0119 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0256 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0270 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19058 | hp2 | a0001 | c0002 | t0002 | g0086 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0271 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19060 | hp2 | a0001 | c0002 | t0002 | g0072 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0278 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19064 | hp2 | a0001 | c0002 | t0002 | g0077 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19065 | hp1 | a0001 | c0002 | t0002 | g0003 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0260 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19066 | hp2 | a0001 | c0002 | t0002 | g0075 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19070 | hp1 | a0001 | c0002 | t0002 | g0087 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19072 | hp1 | a0001 | c0002 | t0002 | g0099 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19076 | hp2 | a0001 | c0002 | t0002 | g0083 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19077 | hp1 | a0001 | c0002 | t0002 | g0071 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0202 | 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 | g0206 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19081 | hp1 | a0002 | c0004 | t0005 | g0049 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19081 | hp2 | a0001 | c0002 | t0002 | g0096 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19082 | hp1 | a0001 | c0002 | t0002 | g0125 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0274 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19084 | hp1 | a0001 | c0002 | t0002 | g0090 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19084 | hp2 | a0001 | c0002 | t0002 | g0126 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19087 | hp1 | a0001 | c0002 | t0002 | g0114 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19088 | hp1 | a0001 | c0002 | t0002 | g0131 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19091 | hp2 | a0001 | c0002 | t0002 | g0127 | EAS | JPT | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19240 | hp1 | a0001 | c0002 | t0002 | g0149 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA19240 | hp2 | a0001 | c0001 | t0004 | g0032 | AFR | YRI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0024 | AFR | ASW | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0069 | AFR | ASW | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20752 | hp1 | a0001 | c0002 | t0002 | g0141 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0226 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20805 | hp1 | a0001 | c0002 | t0002 | g0130 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20805 | hp2 | a0001 | c0002 | t0002 | g0123 | EUR | TSI | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0211 | SAS | GIH | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| NA20905 | hp2 | a0001 | c0002 | t0002 | g0010 | SAS | GIH | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01123 | hp1 | a0001 | c0002 | t0002 | g0101 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG01123 | hp2 | a0001 | c0001 | t0003 | g0023 | AMR | CLM | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0067 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0006 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0262 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02486 | hp2 | a0001 | c0001 | t0003 | g0027 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02559 | hp1 | a0001 | c0001 | t0003 | g0029 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0158 | AFR | ACB | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0171 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0185 | AFR | MSL | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG06807 | hp1 | a0001 | c0001 | t0003 | g0041 | AFR | USA | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0159 | 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 | g0121 | AFR | LWK | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0002 | g0108 | REF | REF | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0117 | REF | REF | EPM2A_chr6_145620305_145740520 | EPM2A | chr6 | 145620305 | 145740520 |
| 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 | a0004 | 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 | a0005 | 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 | a0006 | 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 | a0003 | 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 | a0009 | 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 | a0002 | 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 |
| 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 | a0001c0005 | 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 | a0001c0003a0009c0007 | 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 | 8 | a0001c0001a0001c0003a0001c0005others(5): 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 | a0001c0013 | 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 |
| 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 | a0009c0007t0015 | 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 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(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 | 16 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(13): Show | 165 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(162): 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 | a0002c0004t0005a0002c0004t0011 | 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 | a0002c0004t0005a0002c0004t0011 | 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 | a0002c0004t0005a0002c0004t0011 | 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 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(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 | a0002c0004t0011 | 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 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(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 |
| 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0170 | 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 | 10 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(7): 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 | a0001c0001t0001g0191a0001c0001t0001g0192 | 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 | 156 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(153): Show | 172 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(169): 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | a0001c0001t0001g0255 | 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 | a0004c0008t0002g0122 | 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 | 154 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(151): Show | 170 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(167): 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 | a0001c0001t0001g0256 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0068 | 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 | 103 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(100): Show | 115 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(112): 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 | a0001c0002t0002g0065 | 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 | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0001t0003g0033 | 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 | a0001c0002t0002g0106 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0269a0001c0001t0001g0282a0001c0001t0001g0287 | 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 | a0001c0002t0002g0113 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0263 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 5 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0191others(2): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0007g0183a0001c0001t0007g0184a0001c0001t0007g0186 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0216 | 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 | 99 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(96): Show | 111 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(108): 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 | a0001c0002t0002g0060a0001c0002t0002g0145 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0020a0001c0001t0003g0028a0001c0001t0003g0030others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0027a0001c0001t0003g0036a0001c0001t0003g0037others(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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0118a0001c0002t0013g0093a0005c0009t0002g0139 | 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 | 90 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(87): Show | 102 | HG00280.hp1 HG00609.hp2 HG00642.hp2 others(99): 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 | a0001c0002t0002g0060 | 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 | 2 | a0001c0002t0002g0080a0001c0002t0002g0086 | 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 | a0001c0001t0001g0237a0001c0001t0001g0258a0001c0001t0001g0279 | 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 | a0001c0001t0001g0194a0001c0001t0001g0205a0001c0001t0001g0266others(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 | 15 | a0001c0001t0001g0012a0001c0001t0001g0165a0001c0001t0001g0166others(12): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0002t0002g0144a0002c0004t0005g0049a0002c0004t0005g0051others(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 | a0001c0002t0002g0124a0001c0002t0002g0145a0004c0008t0002g0122 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0003g0004others(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 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0182others(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 | a0001c0001t0009g0152 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 143 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(140): Show | 159 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(156): Show |
intron_variant | MODIFIER | c.718+3043A>T | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145632202 | ||||||
| chr6:145632203
|
A | C | 143 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(140): Show | 159 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(156): 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 165 | a0001c0001t0001g0012a0001c0001t0001g0154a0001c0001t0001g0155others(162): Show | 182 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(179): 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 | a0001c0002t0002g0064 | 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 | a0001c0003t0001g0252 | 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 | 143 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(140): Show | 159 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(156): 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 | a0001c0001t0001g0173 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 101 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(98): Show | 113 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(110): 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0171 | 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 | 154 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(151): Show | 170 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(167): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0096 | 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 | 73 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(70): Show | 83 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(80): 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 | a0001c0002t0002g0060 | 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 | 103 | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(100): Show | 115 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.718+694C>G | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 3/3 | chr6 | 145634551 | ||||||
| chr6:145634707
|
A | C | 22 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(19): 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0009g0152 | 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 | a0001c0001t0001g0207 | 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 | 10 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(7): 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 | a0001c0002t0002g0074 | 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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | 149 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(146): Show | 165 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(162): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0068 | 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 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0207others(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 | a0001c0002t0002g0103 | 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 | a0001c0002t0002g0085a0001c0002t0002g0087a0001c0002t0002g0115 | 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 | 2 | a0001c0001t0001g0155a0001c0001t0001g0156 | 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 | a0001c0002t0002g0113 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 27 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(24): 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 | a0001c0001t0001g0154a0001c0001t0001g0160a0001c0001t0001g0162others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | a0001c0001t0001g0194 | 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 | a0001c0001t0001g0282 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0269 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0290 | 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 | 3 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0193 | 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 | 4 | a0001c0002t0002g0105a0001c0002t0002g0107a0001c0002t0002g0110others(1): Show | 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 | a0001c0005t0006g0198 | 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 | 156 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(153): Show | 172 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(169): 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 | a0001c0001t0003g0020 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0003t0001g0252 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0020 | 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 | a0001c0001t0004g0031a0001c0001t0004g0032a0001c0001t0004g0034others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0060 | 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 | a0001c0001t0003g0026a0001c0001t0003g0027 | 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 | a0001c0002t0002g0088 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0009g0152 | 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 | a0001c0002t0002g0113 | 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 | a0001c0002t0002g0060 | 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 | 149 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(146): Show | 165 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(162): 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 | a0001c0002t0002g0077 | 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 | a0001c0005t0006g0195 | 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 | a0001c0002t0002g0088 | 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 | a0001c0002t0002g0123a0004c0008t0002g0122 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0003t0001g0234 | 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 | a0001c0002t0002g0002 | 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 | 104 | a0001c0001t0009g0152a0001c0002t0002g0001a0001c0002t0002g0002others(101): Show | 116 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(113): 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 | a0001c0001t0001g0181 | 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 | a0001c0001t0001g0168 | 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 | a0001c0001t0001g0244 | 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 | 6 | a0001c0002t0002g0125a0001c0002t0002g0126a0001c0002t0002g0127others(3): 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 | 154 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(151): Show | 170 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(167): 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0002t0002g0060 | 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 | a0001c0002t0002g0059 | 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 | a0001c0001t0009g0152 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0002t0012g0061 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0182others(3): 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 | 104 | a0001c0001t0009g0152a0001c0002t0002g0001a0001c0002t0002g0002others(101): Show | 116 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(113): 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 | a0001c0002t0002g0102 | 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 | a0001c0001t0003g0027 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0112 | 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 | a0001c0002t0002g0063 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 121 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0182others(118): Show | 133 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(130): Show |
intron_variant | MODIFIER | c.477-8358delT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145643843 | ||||||
| chr6:145643843
|
GAA | G | 37 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0270a0001c0001t0001g0271 | 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 | a0001c0001t0001g0201 | 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 | a0001c0001t0001g0185 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | 148 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(145): Show | 164 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(161): 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0082 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152 | 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 | 148 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(145): Show | 163 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(160): 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 | a0001c0002t0002g0094 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0001g0012a0001c0001t0001g0173a0001c0001t0001g0185 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0038others(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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0100a0001c0002t0002g0101a0001c0002t0002g0151 | 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 | a0001c0001t0003g0027 | 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0009g0153 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0002t0002g0126 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 146 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(143): 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 | a0001c0001t0001g0188 | 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 | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0182others(3): 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 | a0001c0002t0002g0147 | 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 | 89 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0207others(86): 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0009g0152 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 192 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(189): 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 | a0001c0001t0001g0244a0001c0001t0001g0245 | 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 | 8 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(5): 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 | a0001c0002t0002g0119 | 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 | 6 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(3): 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 | a0007c0010t0003g0019 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0029a0001c0002t0002g0116a0001c0003t0001g0227others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0143 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 192 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(189): 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0257 | 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 | 4 | a0001c0002t0002g0125a0001c0002t0002g0126a0001c0002t0002g0128others(1): Show | 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 | a0001c0001t0003g0030 | 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 | a0001c0001t0009g0153 | 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 | a0002c0004t0005g0053 | 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 | 192 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(189): 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 | a0001c0002t0002g0150 | 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 | a0001c0002t0002g0078 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0004g0031 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0197 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0001t0009g0153 | 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 | a0001c0002t0002g0060 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0070 | 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 | 188 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(185): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0001t0009g0153 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0270 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0243a0001c0001t0001g0273a0001c0002t0002g0100others(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 | 22 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(19): 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 | a0008c0012t0001g0296 | 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 | a0001c0001t0001g0170 | 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 | a0001c0001t0001g0182 | 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 | a0001c0002t0002g0101 | 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 | a0001c0002t0002g0089 | 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 | a0001c0001t0003g0025 | 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 | a0001c0005t0006g0198 | 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 | a0001c0001t0001g0273 | 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 | a0001c0001t0001g0216 | 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 | a0001c0001t0001g0188a0001c0002t0002g0113 | 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 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0283 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0170 | 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 | 154 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(151): 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0009g0152a0001c0002t0002g0060a0001c0002t0002g0145 | 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 | 22 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(19): 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0189 | 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 | a0001c0001t0003g0030a0007c0010t0003g0019 | 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 | 132 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(129): 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 | a0001c0002t0002g0060 | 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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0001t0009g0152 | 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 | a0001c0001t0001g0185 | 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 | a0001c0001t0009g0153 | 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 | 192 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(189): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0066a0001c0002t0002g0140a0001c0005t0006g0195others(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 | 188 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(185): 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 | a0001c0002t0002g0067 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0001g0203 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0002t0002g0065 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0002t0002g0072a0001c0002t0002g0082a0002c0004t0005g0049others(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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0216 | 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 | a0001c0001t0003g0028 | 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 | a0001c0001t0001g0264a0001c0001t0001g0265a0001c0001t0001g0266others(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 | a0001c0001t0003g0030 | 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 | a0001c0001t0001g0159 | 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 | a0001c0001t0004g0031 | 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 | a0001c0002t0002g0151 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0168 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0157 | 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 | a0001c0003t0001g0230 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0293 | 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 | a0001c0002t0002g0123 | 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 | a0001c0001t0001g0203 | 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 | a0001c0002t0012g0061 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0259 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0009g0152 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 154 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(151): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0002t0002g0078 | 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0003g0023 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0076 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0168 | 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 | a0001c0013t0002g0297 | 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 | a0001c0001t0001g0206 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 6 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176others(3): 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 | a0001c0001t0009g0152 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0158a0001c0001t0001g0159 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | 4 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0193others(1): Show | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0012 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 93 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0207others(90): 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 | 3 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0205 | 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 | a0001c0001t0003g0021 | 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 | a0001c0001t0001g0194 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0002t0002g0069 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0001t0009g0153 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | a0001c0001t0001g0223a0001c0001t0001g0294 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0009g0152 | 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 | a0001c0002t0002g0088 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0285others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0002t0002g0069 | 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 | a0001c0002t0002g0069 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0009g0153 | 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 | a0001c0001t0001g0181 | 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 | a0001c0002t0002g0097 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0009g0153 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0002t0002g0069 | 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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | a0001c0001t0003g0004 | 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 | a0001c0002t0002g0097 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0179 | 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 | 16 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(13): 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 | a0001c0002t0002g0145 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0145 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0002t0002g0087a0001c0002t0002g0115 | 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 | a0001c0002t0002g0087a0001c0002t0002g0115 | 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 | a0001c0001t0003g0040 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0001t0003g0030a0007c0010t0003g0019 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0002t0002g0116 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0063a0001c0002t0013g0093 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0260 | 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 | a0001c0001t0001g0187 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0140 | 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 | a0001c0001t0009g0153 | 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 | 101 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0154others(98): 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 | a0002c0004t0005g0051a0002c0004t0011g0050 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0104 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0002t0002g0068 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0002t0002g0068 | 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 | a0001c0002t0002g0068 | 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 | a0001c0002t0002g0076a0001c0002t0002g0077a0001c0002t0002g0111 | 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 | a0001c0001t0001g0181 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0002c0004t0005g0054 | 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 | 190 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(187): 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 | a0001c0002t0002g0060 | 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 | a0001c0003t0001g0249 | 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 | a0001c0003t0001g0228 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0109a0001c0002t0002g0113 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 188 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(185): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 102 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0154others(99): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0012a0001c0001t0001g0173a0001c0001t0001g0185 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0001g0212 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0145 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0173 | 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 | a0001c0001t0001g0223 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0002t0002g0141 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0001g0213 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0079 | 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 | a0001c0002t0002g0088 | 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 | a0002c0004t0011g0050 | 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 | 2 | a0001c0002t0002g0130a0001c0002t0002g0134 | 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0002t0002g0078 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0201a0001c0001t0001g0202a0001c0001t0001g0204others(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 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0285others(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 | a0001c0001t0003g0029 | 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 | a0001c0001t0003g0020a0001c0001t0003g0030a0007c0010t0003g0019 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0002t0002g0008a0001c0002t0002g0066 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0002t0002g0099 | 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 | 11 | a0001c0002t0002g0064a0001c0002t0002g0074a0001c0002t0002g0103others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(8): 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0001g0284 | 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 | a0001c0001t0001g0203 | 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 | a0001c0003t0001g0222a0001c0003t0001g0227a0001c0003t0001g0228others(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 | a0001c0001t0001g0204 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0002t0002g0077 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0001g0210a0001c0001t0001g0211 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0020 | 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 | a0001c0002t0002g0109 | 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 | a0001c0002t0002g0145 | 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 | 29 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(26): 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 | a0001c0001t0001g0168 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0001t0001g0188 | 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 | a0001c0002t0002g0133 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0060 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0151 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0269 | 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 | a0001c0001t0001g0181 | 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 | a0001c0002t0002g0068 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0001t0001g0268 | 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 | 191 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(188): 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 | a0001c0001t0001g0246a0001c0001t0001g0247 | 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 | a0001c0001t0003g0007 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 221 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(218): 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0011 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0012a0001c0001t0001g0173a0001c0001t0001g0185 | 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 | a0001c0002t0002g0088 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0096 | 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 | a0008c0012t0001g0296 | 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 | 2 | a0001c0002t0002g0130a0001c0002t0002g0134 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0001t0001g0226a0006c0011t0001g0208 | 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 | 16 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(13): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0060 | 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 | a0001c0002t0002g0075 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 159 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(156): 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 | a0001c0001t0009g0152a0001c0001t0009g0153a0002c0004t0005g0049others(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 | 176 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(173): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0002t0002g0060 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0277a0001c0001t0014g0215 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 157 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(154): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | 152 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(149): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0185 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0154 | 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 | a0001c0002t0002g0081 | 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 | a0001c0002t0002g0058 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0124 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0159 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | ||||||
| chr6:145681901
|
C | T | 296 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(293): Show | 319 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(316): Show |
intron_variant | MODIFIER | c.476+4221G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | 145681901 | ||||||
| chr6:145681990
|
T | C | 6 | a0001c0002t0002g0078a0001c0002t0002g0095a0001c0002t0002g0112others(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 | a0001c0003t0001g0249 | 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 | 8 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(5): 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 | a0001c0002t0002g0060 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0002 | 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 | 89 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0207others(86): 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0007c0010t0003g0019 | 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 | a0001c0002t0002g0075 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 25 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0161others(22): 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 | 31 | a0001c0001t0001g0012a0001c0001t0001g0155a0001c0001t0001g0156others(28): 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 | 18 | a0001c0001t0001g0169a0001c0001t0001g0191a0001c0001t0001g0199others(15): 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 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0205others(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 | a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0001g0192others(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 |
20 | a0001c0001t0001g0018a0001c0001t0001g0159a0001c0001t0001g0207others(17): 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 |
16 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0154others(13): 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 | a0001c0001t0001g0160a0001c0001t0001g0238a0001c0001t0001g0241others(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 | a0001c0001t0001g0157 | 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 | a0001c0001t0001g0255 | 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 | 82 | a0001c0001t0003g0007a0001c0001t0003g0025a0001c0002t0002g0001others(79): Show | 94 | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(91): 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 | 12 | a0001c0001t0009g0152a0001c0002t0002g0008a0001c0002t0002g0066others(9): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 146 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(143): 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 | a0001c0001t0001g0233 | 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 | a0001c0001t0001g0232a0001c0001t0001g0283 | 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 | a0001c0001t0001g0245a0001c0001t0001g0279a0001c0001t0001g0291 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 229 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(226): 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 | 25 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(22): 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 | a0001c0001t0001g0246 | 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 | a0001c0001t0003g0020 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0145 | 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 | 201 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(198): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 203 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(200): 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 | 196 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(193): 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 | 11 | a0001c0002t0002g0064a0001c0002t0002g0074a0001c0002t0002g0103others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(8): 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 | a0001c0001t0001g0280a0001c0001t0001g0281 | 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 | a0001c0002t0002g0058 | 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 | 190 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(187): 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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0001t0001g0192 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0002t0002g0137a0001c0002t0002g0142 | 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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0028 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0001g0270others(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 | a0001c0001t0001g0284 | 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 | a0001c0002t0002g0071 | 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 | 148 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(145): 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 | a0001c0001t0001g0165 | 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 | a0001c0001t0001g0269a0001c0001t0001g0287 | 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 | a0001c0001t0001g0283 | 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 | 199 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(196): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0278 | 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 | a0001c0001t0001g0012a0001c0001t0001g0170a0001c0001t0001g0173others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0003t0001g0222a0001c0003t0001g0227a0001c0003t0001g0228others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0078 | 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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0005c0009t0002g0139 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0001g0226a0006c0011t0001g0208 | 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 | a0001c0001t0001g0012a0001c0001t0001g0173a0001c0001t0001g0185 | 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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | a0001c0002t0002g0129 | 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 | a0001c0002t0002g0137a0001c0002t0002g0142 | 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 | a0001c0002t0002g0140 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | 146 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(143): 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 | a0001c0002t0002g0008a0001c0002t0002g0065a0001c0002t0002g0066others(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 | a0001c0001t0001g0182 | 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 | a0001c0001t0001g0214a0001c0001t0001g0219 | 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 | a0001c0002t0002g0084 | 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 | a0001c0001t0001g0262 | 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 | a0001c0002t0002g0008a0001c0002t0002g0065a0001c0002t0002g0066others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 29 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(26): 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 | a0001c0002t0002g0008a0001c0002t0002g0065a0001c0002t0002g0066others(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 | a0001c0002t0002g0060 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0001t0001g0279 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153a0001c0002t0002g0145 | 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 | a0001c0002t0002g0070 | 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 | 143 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(140): 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 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0271others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0204a0001c0002t0002g0145a0001c0005t0006g0195others(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 | a0001c0002t0002g0059a0002c0004t0005g0049a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0028 | 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 | a0001c0002t0002g0084 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 2 | a0001c0002t0002g0130a0001c0002t0002g0134 | 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0002t0002g0136 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0044 | 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0154 | 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 | a0001c0001t0001g0154 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0002t0002g0113 | 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 | a0007c0010t0003g0019 | 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 | 163 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(160): 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0001g0217 | 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 | 203 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(200): 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 | 19 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0009others(16): 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 | a0001c0001t0001g0210 | 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 | a0001c0001t0003g0039a0001c0001t0003g0040 | 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 | 6 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(3): 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 | a0001c0002t0002g0069 | 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 | a0001c0002t0002g0102 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0001g0242others(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 | a0001c0002t0002g0011 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0037a0001c0001t0003g0038 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0162a0001c0002t0002g0148 | 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 | a0001c0001t0001g0163 | 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 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0015a0001c0001t0001g0156a0001c0001t0001g0161others(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 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0214others(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 |
2 | a0001c0001t0001g0236a0001c0001t0001g0237 | 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 | 64 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0017others(61): Show | 68 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(65): 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 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0182others(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 | 43 | a0001c0001t0001g0014a0001c0001t0001g0154a0001c0001t0001g0158others(40): 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 | a0001c0001t0001g0192a0001c0001t0001g0273a0001c0001t0001g0283others(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 | a0001c0001t0003g0027a0001c0001t0004g0032a0001c0001t0004g0034others(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 | a0001c0001t0001g0260a0001c0001t0003g0005a0001c0001t0003g0020others(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 | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0021others(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 | a0001c0001t0001g0221a0001c0001t0003g0028a0001c0001t0003g0030others(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 | a0001c0001t0003g0029 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0003g0039 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0009g0152 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0002t0002g0063a0001c0002t0013g0093 | 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 | 12 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(9): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153a0001c0002t0002g0060 | 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 | a0001c0001t0001g0262 | 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 | a0001c0001t0001g0253 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 158 | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0018others(155): 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 | a0008c0012t0001g0296 | 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 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0262others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0060 | 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 | a0001c0002t0002g0069a0001c0005t0006g0195a0001c0005t0006g0196others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0143 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0143 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | 155 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(152): 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 | a0001c0002t0002g0141 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0001g0253 | 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 | a0007c0010t0003g0019 | 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0239 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0274 | 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 | a0001c0002t0002g0127 | 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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0182others(3): 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 | a0001c0001t0001g0290 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0039 | 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 | a0001c0001t0001g0209a0001c0001t0009g0152a0001c0001t0009g0153others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0010a0001c0002t0002g0138 | 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 | a0001c0002t0002g0097 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0009g0153 | 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 | a0001c0001t0001g0278 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0001g0220 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0291a0001c0001t0001g0292a0001c0001t0001g0293 | 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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | 189 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(186): 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 | a0001c0001t0009g0153 | 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 | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0182others(3): 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | 186 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(183): 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 | a0001c0002t0002g0120 | 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 | a0001c0001t0003g0005a0001c0001t0003g0007a0001c0001t0003g0020others(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 | a0001c0001t0003g0006a0001c0001t0003g0022a0001c0001t0003g0023others(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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0094 | 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 | a0001c0001t0009g0153 | 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 | 239 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(236): Show | 253 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(250): 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 | a0001c0001t0003g0036a0001c0001t0003g0037a0001c0001t0003g0038 | 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 | a0001c0002t0002g0103 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 12 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(9): 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0248 | 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 | a0001c0003t0001g0222 | 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 | a0001c0002t0002g0095 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0002t0002g0075 | 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 | a0001c0001t0003g0004 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0182 | 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 | 154 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(151): 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 | a0001c0001t0009g0153 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0003g0044 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0003g0004others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 2 | a0001c0001t0001g0155a0001c0001t0001g0156 | 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 | a0001c0001t0001g0167 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0144 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0096 | 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 | a0001c0001t0004g0031 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0041a0001c0001t0003g0042a0001c0001t0003g0043others(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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0127 | 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 | a0001c0002t0002g0110 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0001t0001g0214a0001c0001t0001g0219 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | 29 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(26): 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 | a0001c0001t0001g0263 | 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 | a0001c0001t0001g0262 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0076a0001c0002t0002g0077a0001c0002t0002g0111 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0221 | 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 | a0001c0003t0001g0276 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0003g0020a0001c0001t0003g0028a0001c0001t0003g0030others(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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | a0001c0001t0003g0028 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | 101 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0154others(98): 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 | a0001c0002t0002g0097a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0173 | 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 | a0001c0001t0003g0041 | 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 | a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0003t0001g0222a0001c0003t0001g0254 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0213 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0001g0154 | 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 | a0001c0002t0002g0098 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0109 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0197 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0198 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0028 | 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 | a0001c0001t0001g0204 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0038 | 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 | a0001c0002t0002g0119 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0110 | 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 | a0001c0001t0001g0191a0001c0001t0001g0192 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(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 | a0001c0001t0001g0194 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0003t0001g0252 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0041a0001c0001t0003g0042a0001c0001t0003g0043others(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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0001g0275 | 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 | a0001c0001t0003g0041 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0181a0001c0001t0001g0187a0001c0001t0001g0188 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0001g0187 | 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 | a0001c0001t0003g0041a0001c0001t0003g0042a0001c0001t0003g0043others(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 | a0001c0002t0002g0099 | 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 | a0001c0002t0002g0069 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0003t0001g0222 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0003t0001g0235 | 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 | a0001c0001t0003g0004 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0003g0028 | 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 | a0001c0002t0002g0137 | 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 | a0001c0001t0001g0285a0001c0001t0001g0288 | 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 | 222 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(219): 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 | a0001c0001t0009g0153 | 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 | 144 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(141): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0221 | 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 | a0001c0001t0009g0152 | 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 | a0001c0002t0002g0145 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0001g0214 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0003a0001c0002t0002g0099 | 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 | a0001c0002t0002g0003a0001c0002t0002g0099 | 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 | a0001c0002t0002g0003a0001c0002t0002g0099 | 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 | 197 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(194): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0002t0002g0145 | 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 | 195 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 16 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(13): 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0012 | 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 | a0001c0002t0002g0002a0001c0002t0002g0075 | 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 | 4 | a0001c0001t0001g0217a0001c0001t0001g0236a0001c0001t0001g0237others(1): Show | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0005t0006g0195 | 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 | a0001c0001t0001g0167 | 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | a0001c0001t0001g0213a0001c0001t0001g0239a0001c0001t0001g0240others(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 | a0001c0002t0002g0010 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0002t0002g0060 | 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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0002t0002g0138 | 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 | a0001c0003t0001g0249a0001c0003t0001g0250a0001c0003t0001g0251others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0188 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0002t0002g0150 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 140 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(137): 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 | a0001c0002t0002g0100a0001c0002t0002g0101a0001c0002t0002g0151 | 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 | a0001c0001t0001g0277 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0253 | 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 | a0001c0001t0009g0153 | 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 | a0001c0001t0001g0168a0001c0001t0001g0169 | 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 | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0002t0002g0070 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0146 | 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 | a0001c0002t0002g0145 | 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 | a0001c0002t0002g0001a0001c0002t0002g0071a0001c0002t0002g0072others(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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0003g0027 | 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 | 5 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0199others(2): 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 | a0005c0009t0002g0139 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0009g0152 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0205 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0185 | 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 | a0008c0012t0001g0296 | 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 | a0001c0001t0009g0152 | 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 | a0001c0001t0001g0160 | 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 | a0001c0002t0002g0060 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | 22 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(19): 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 | a0001c0001t0001g0165a0001c0001t0001g0166 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0001g0012a0001c0001t0001g0173a0001c0001t0001g0185 | 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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0002t0002g0145 | 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 | a0001c0003t0001g0254 | 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 | a0001c0002t0002g0060 | 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 | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149 | 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 | a0001c0002t0002g0121 | 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 | a0001c0001t0007g0186 | 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 | a0001c0002t0002g0143a0001c0002t0002g0144 | 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 | a0001c0001t0001g0284 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0213a0001c0001t0001g0255a0001c0001t0001g0256 | 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | ||||||
| chr6:145726993
|
C | T | 296 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(293): Show | 319 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(316): Show |
intron_variant | MODIFIER | c.301+8205G>A | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145726993 | ||||||
| chr6:145727035
|
G | T | 2 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0002t0002g0102 | 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | 153 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(150): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0028 | 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 | a0001c0001t0001g0220 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0279 | 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0039others(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 | 141 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(138): 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 | a0001c0002t0002g0145 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0145 | 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 | 16 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0167others(13): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0004g0032 | 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0002t0002g0140 | 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 | a0001c0002t0002g0067 | 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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0001g0262 | 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 | a0001c0001t0001g0263 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0001c0001t0008g0047 | 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 | a0001c0001t0001g0170 | 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 | a0001c0001t0001g0164 | 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 | a0001c0001t0001g0218 | 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 | a0001c0002t0002g0145 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0001c0001t0001g0279 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 193 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(190): 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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(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 | a0001c0002t0002g0141 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0261 | 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 | a0001c0002t0002g0143 | 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 | a0001c0002t0002g0123a0004c0008t0002g0122 | 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 | a0001c0001t0001g0262a0001c0001t0001g0280a0001c0001t0001g0281others(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 | a0001c0001t0001g0214a0001c0001t0001g0219 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0001g0194 | 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 | a0007c0010t0003g0019 | 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 | 11 | a0001c0002t0002g0064a0001c0002t0002g0074a0001c0002t0002g0103others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG02015.hp1 others(8): Show |
intron_variant | MODIFIER | c.301+3426dupT | EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | 145731771 | ||||||
| chr6:145731793
|
T | C | 1 | a0001c0001t0001g0187 | 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 | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0021others(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 | a0001c0001t0003g0029a0001c0001t0003g0030a0001c0002t0002g0119others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0165others(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 | a0001c0001t0001g0164 | 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 | 51 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0009others(48): Show | 56 | HG00280.hp1 HG00609.hp2 HG00738.hp1 others(53): 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 | a0001c0002t0002g0001a0001c0002t0002g0071a0001c0002t0002g0072others(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 | 21 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0059others(18): 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 | a0001c0001t0004g0031a0001c0001t0009g0153a0001c0002t0002g0142 | 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 | a0001c0001t0001g0170a0001c0002t0002g0120 | 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 | 14 | a0001c0001t0001g0015a0001c0001t0001g0168a0001c0001t0001g0199others(11): 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 | 12 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(9): 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 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0207others(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 | 53 | a0001c0001t0001g0012a0001c0001t0001g0174a0001c0001t0001g0175others(50): 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 |
39 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0154others(36): 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 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0167others(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 | a0001c0001t0001g0287 | 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 | a0001c0001t0001g0288 | 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 | a0001c0001t0003g0004a0001c0001t0004g0032a0001c0001t0009g0152others(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 | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0007others(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 | a0001c0005t0006g0195a0001c0005t0006g0196a0001c0005t0006g0197others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 194 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(191): 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 | a0002c0004t0005g0051a0002c0004t0005g0052a0002c0004t0005g0053others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | 135 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(132): 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 | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0001g0294 | 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 | a0001c0002t0002g0062a0001c0002t0002g0063a0001c0002t0002g0064others(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 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(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 | 14 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0002t0002g0011others(11): 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 | a0001c0001t0003g0007a0001c0001t0003g0033a0001c0001t0003g0036others(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 | a0001c0001t0004g0045 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0006others(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 | a0001c0002t0002g0124 | 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 | a0001c0001t0001g0207 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | 142 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(139): 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 | 147 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(144): 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 221 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(218): 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 | a0001c0001t0008g0046a0001c0001t0008g0047 | 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 | 9 | a0001c0001t0001g0015a0001c0001t0001g0199a0001c0001t0001g0200others(6): 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 | a0001c0002t0002g0060 | 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 | 102 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0154others(99): 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 | a0001c0002t0002g0060 | 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 | a0001c0001t0009g0152 | 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 | a0001c0002t0002g0059 | 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 | a0001c0002t0002g0058 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | 8 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(5): 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 | a0001c0001t0009g0152a0001c0001t0009g0153 | 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 | a0001c0001t0001g0295 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 | a0001c0002t0002g0151 | 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 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(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 |