Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 57634 |
|---|---|
| ensemblid | ENSG00000183495.15 |
| hgncid | 11958 |
| symbol | EP400 |
| name | E1A binding protein p400 |
| refseq_nuc | NM_015409.5 |
| refseq_prot | NP_056224.3 |
| ensembl_nuc | ENST00000389561.7 |
| ensembl_prot | ENSP00000374212.2 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 131949942 |
| end | 132080460 |
| strand | + |
| ver | v1.2 |
| region | chr12:131949942-132080460 |
| region5000 | chr12:131944942-132085460 |
| regionname0 | EP400_chr12_131949942_132080460 |
| regionname5000 | EP400_chr12_131944942_132085460 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 3124 | 68 | 8 | 15 | 31 | 3 | 10 | 23 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002 | 1/0 | 3123 | 48 | 9 | 10 | 24 | 1 | 3 | 15 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003 | 0/0 | 3124 | 24 | 22 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004 | 0/0 | 3125 | 18 | 9 | 6 | 1 | 0 | 2 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005 | 0/0 | 3123 | 11 | 11 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006 | 0/0 | 3125 | 6 | 4 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0007 | 0/0 | 3125 | 4 | 3 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0008 | 0/0 | 3124 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0009 | 0/0 | 3124 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0010 | 0/0 | 3123 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0011 | 0/0 | 3126 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0012 | 0/0 | 3126 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0013 | 0/0 | 3123 | 2 | 0 | 0 | 1 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0014 | 0/0 | 3124 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0015 | 0/0 | 3124 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0016 | 0/0 | 3122 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0017 | 0/0 | 3127 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0018 | 0/0 | 3127 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0019 | 0/0 | 3124 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0020 | 0/0 | 3122 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0021 | 0/0 | 3124 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0022 | 0/0 | 3124 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0023 | 0/0 | 3124 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0024 | 0/0 | 3124 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0025 | 0/0 | 3124 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0026 | 0/0 | 3124 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0027 | 0/0 | 3124 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0028 | 0/0 | 3124 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 9372 | 38 | 5 | 8 | 20 | 1 | 3 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0002 | 0/1 | 9375 | 23 | 1 | 6 | 6 | 2 | 7 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0003 | 0/0 | 9375 | 22 | 1 | 0 | 20 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0004 | 0/0 | 9375 | 11 | 10 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0005 | 0/0 | 9378 | 8 | 0 | 5 | 1 | 0 | 2 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0006 | 0/0 | 9375 | 8 | 0 | 6 | 2 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0007 | 0/0 | 9372 | 6 | 6 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0008 | 0/0 | 9375 | 6 | 6 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0009 | 0/0 | 9378 | 4 | 4 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0010 | 0/0 | 9378 | 3 | 1 | 2 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0011 | 0/0 | 9375 | 3 | 0 | 3 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0012 | 0/0 | 9378 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0013 | 0/0 | 9375 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0014 | 0/0 | 9378 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0015 | 0/0 | 9372 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0016 | 0/0 | 9375 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0017 | 0/0 | 9375 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0018 | 0/0 | 9375 | 2 | 0 | 0 | 2 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0019 | 0/0 | 9372 | 2 | 0 | 0 | 1 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0020 | 0/0 | 9381 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0021 | 0/0 | 9375 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0022 | 0/0 | 9372 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0023 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0024 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0025 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0026 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0027 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0028 | 0/0 | 9384 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0029 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0030 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0031 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0032 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0033 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0034 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0035 | 0/0 | 9369 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0036 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0037 | 0/0 | 9381 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0038 | 0/0 | 9384 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0039 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0040 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0041 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0042 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0043 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0044 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0045 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0046 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0047 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0048 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0049 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0050 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0051 | 0/0 | 9378 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0052 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0053 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0054 | 0/0 | 9381 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0055 | 0/0 | 9378 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0056 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0057 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0058 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0059 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0060 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0061 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0062 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0063 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0064 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0065 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0066 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0067 | 0/0 | 9369 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0068 | 0/0 | 9372 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0069 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0070 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0071 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0072 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| c0073 | 0/0 | 9372 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 2918 | 123 | 30 | 35 | 36 | 5 | 15 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0002 | 0/0 | 2918 | 49 | 23 | 3 | 20 | 1 | 2 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0003 | 0/0 | 2918 | 8 | 8 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0004 | 0/0 | 2918 | 8 | 6 | 2 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0005 | 0/0 | 2918 | 5 | 0 | 0 | 4 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0006 | 0/0 | 2918 | 4 | 4 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0007 | 0/0 | 2918 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0008 | 0/0 | 2918 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0009 | 0/0 | 2918 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0010 | 0/0 | 2918 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0011 | 0/0 | 2918 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0012 | 0/0 | 2918 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0013 | 0/0 | 2918 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| t0014 | 0/0 | 2918 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0080 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0098 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/1 | 9375 | 23 | 1 | 6 | 6 | 2 | 7 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0003 | 0/0 | 9375 | 22 | 1 | 0 | 20 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0006 | 0/0 | 9375 | 8 | 0 | 6 | 2 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0018 | 0/0 | 9375 | 2 | 0 | 0 | 2 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0021 | 0/0 | 9375 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0025 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0026 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0036 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0039 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0046 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0056 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0057 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0058 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0059 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0066 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0069 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0001 | 1/0 | 9372 | 38 | 5 | 8 | 20 | 1 | 3 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0022 | 0/0 | 9372 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0040 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0041 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0045 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0060 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0062 | 0/0 | 9372 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0063 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0068 | 0/0 | 9372 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0073 | 0/0 | 9372 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0004 | 0/0 | 9375 | 11 | 10 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0008 | 0/0 | 9375 | 6 | 6 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0013 | 0/0 | 9375 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0016 | 0/0 | 9375 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0030 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0047 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0005 | 0/0 | 9378 | 8 | 0 | 5 | 1 | 0 | 2 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0009 | 0/0 | 9378 | 4 | 4 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0014 | 0/0 | 9378 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0023 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0051 | 0/0 | 9378 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0052 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0007 | 0/0 | 9372 | 6 | 6 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0029 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0034 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0048 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0061 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0065 | 0/0 | 9372 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0010 | 0/0 | 9378 | 3 | 1 | 2 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0024 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0053 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0064 | 0/0 | 9378 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0007c0012 | 0/0 | 9378 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0007c0055 | 0/0 | 9378 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0008c0017 | 0/0 | 9375 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0008c0050 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0009c0011 | 0/0 | 9375 | 3 | 0 | 3 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0010c0015 | 0/0 | 9372 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0011c0020 | 0/0 | 9381 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0012c0037 | 0/0 | 9381 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0012c0054 | 0/0 | 9381 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0013c0019 | 0/0 | 9372 | 2 | 0 | 0 | 1 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0014c0032 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0015c0027 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0016c0067 | 0/0 | 9369 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0017c0028 | 0/0 | 9384 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0018c0038 | 0/0 | 9384 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0019c0049 | 0/0 | 9375 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0020c0035 | 0/0 | 9369 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0021c0042 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0022c0043 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0023c0044 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0024c0033 | 0/0 | 9375 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0025c0070 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0026c0071 | 0/0 | 9375 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0027c0031 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0028c0072 | 0/0 | 9375 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 0/1 | 12292 | 23 | 1 | 6 | 6 | 2 | 7 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0003t0002 | 0/0 | 12292 | 21 | 1 | 0 | 19 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0003t0014 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0006t0001 | 0/0 | 12292 | 6 | 0 | 6 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0006t0005 | 0/0 | 12292 | 2 | 0 | 0 | 2 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0018t0001 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0018t0005 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0021t0002 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0021t0006 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0025t0001 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0026t0002 | 0/0 | 12292 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0036t0002 | 0/0 | 12292 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0039t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0046t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0056t0001 | 0/0 | 12292 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0057t0012 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0058t0002 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0059t0002 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0066t0001 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0001c0069t0002 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0001t0001 | 1/0 | 12289 | 33 | 1 | 8 | 19 | 1 | 3 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0001t0003 | 0/0 | 12289 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0001t0005 | 0/0 | 12289 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0001t0008 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0022t0001 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0022t0003 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0040t0001 | 0/0 | 12289 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0041t0001 | 0/0 | 12289 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0045t0002 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0060t0009 | 0/0 | 12289 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0062t0001 | 0/0 | 12289 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0063t0002 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0068t0001 | 0/0 | 12289 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0002c0073t0010 | 0/0 | 12289 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0004t0002 | 0/0 | 12292 | 11 | 10 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0008t0001 | 0/0 | 12292 | 5 | 5 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0008t0011 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0013t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0013t0006 | 0/0 | 12292 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0016t0001 | 0/0 | 12292 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0030t0002 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0003c0047t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0005t0001 | 0/0 | 12295 | 8 | 0 | 5 | 1 | 0 | 2 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0009t0004 | 0/0 | 12295 | 4 | 4 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0014t0007 | 0/0 | 12295 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0023t0001 | 0/0 | 12295 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0051t0001 | 0/0 | 12295 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0004c0052t0002 | 0/0 | 12295 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0007t0002 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0007t0003 | 0/0 | 12289 | 4 | 4 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0007t0008 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0029t0001 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0034t0001 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0048t0001 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0061t0002 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0005c0065t0001 | 0/0 | 12289 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0010t0004 | 0/0 | 12295 | 3 | 1 | 2 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0024t0013 | 0/0 | 12295 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0053t0002 | 0/0 | 12295 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0006c0064t0006 | 0/0 | 12295 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0007c0012t0001 | 0/0 | 12295 | 3 | 3 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0007c0055t0001 | 0/0 | 12295 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0008c0017t0001 | 0/0 | 12292 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0008c0050t0001 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0009c0011t0001 | 0/0 | 12292 | 3 | 0 | 3 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0010c0015t0001 | 0/0 | 12289 | 2 | 1 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0011c0020t0002 | 0/0 | 12298 | 2 | 2 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0012c0037t0001 | 0/0 | 12298 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0012c0054t0001 | 0/0 | 12298 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0013c0019t0001 | 0/0 | 12289 | 2 | 0 | 0 | 1 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0014c0032t0002 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0015c0027t0005 | 0/0 | 12292 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0016c0067t0001 | 0/0 | 12286 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0017c0028t0004 | 0/0 | 12301 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0018c0038t0001 | 0/0 | 12301 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0019c0049t0001 | 0/0 | 12292 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0020c0035t0001 | 0/0 | 12286 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0021c0042t0001 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0022c0043t0001 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0023c0044t0001 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0024c0033t0001 | 0/0 | 12292 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0025c0070t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0026c0071t0002 | 0/0 | 12292 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0027c0031t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| a0028c0072t0001 | 0/0 | 12292 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | copy fasta | chr12 | 131944942 | 132085460 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0098 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0002t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0002g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0003t0014g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0005g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0006t0005g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0018t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0018t0005g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0021t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0021t0006g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0025t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0026t0002g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0036t0002g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0039t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0046t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0056t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0057t0012g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0058t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0059t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0066t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0001c0069t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0080 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0003g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0003g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0005g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0001t0008g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0022t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0022t0003g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0040t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0041t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0045t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0060t0009g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0062t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0063t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0068t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0002c0073t0010g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0004t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0008t0011g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0013t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0013t0006g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0013t0006g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0016t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0016t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0030t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0003c0047t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0005t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0009t0004g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0009t0004g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0009t0004g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0009t0004g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0014t0007g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0014t0007g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0014t0007g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0023t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0051t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0004c0052t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0003g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0003g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0003g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0003g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0007t0008g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0029t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0034t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0048t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0061t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0005c0065t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0010t0004g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0010t0004g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0010t0004g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0024t0013g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0053t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0006c0064t0006g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0007c0012t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0007c0012t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0007c0012t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0007c0055t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0008c0017t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0008c0017t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0008c0050t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0009c0011t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0009c0011t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0009c0011t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0010c0015t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0010c0015t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0011c0020t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0011c0020t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0012c0037t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0012c0054t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0013c0019t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0013c0019t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0014c0032t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0015c0027t0005g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0016c0067t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0017c0028t0004g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0018c0038t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0019c0049t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0020c0035t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0021c0042t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0022c0043t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0023c0044t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0024c0033t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0025c0070t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0026c0071t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0027c0031t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| a0028c0072t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0002 | t0001 | g0124 | EUR | GBR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00140 | hp2 | a0002 | c0001 | t0001 | g0126 | EUR | GBR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00280 | hp1 | a0001 | c0003 | t0002 | g0003 | EUR | FIN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00280 | hp2 | a0018 | c0038 | t0001 | g0096 | EUR | FIN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00408 | hp1 | a0002 | c0001 | t0001 | g0121 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00408 | hp2 | a0001 | c0002 | t0001 | g0112 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00438 | hp1 | a0002 | c0001 | t0001 | g0092 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00438 | hp2 | a0001 | c0003 | t0002 | g0002 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00558 | hp1 | a0002 | c0001 | t0001 | g0122 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00558 | hp2 | a0002 | c0041 | t0001 | g0120 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00597 | hp1 | a0002 | c0040 | t0001 | g0102 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00597 | hp2 | a0001 | c0003 | t0002 | g0020 | EAS | CHS | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00642 | hp1 | a0023 | c0044 | t0001 | g0036 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00642 | hp2 | a0009 | c0011 | t0001 | g0044 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00735 | hp1 | a0004 | c0005 | t0001 | g0180 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00735 | hp2 | a0004 | c0005 | t0001 | g0035 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00738 | hp1 | a0002 | c0001 | t0001 | g0187 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG00738 | hp2 | a0001 | c0002 | t0001 | g0107 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01071 | hp1 | a0004 | c0005 | t0001 | g0146 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01071 | hp2 | a0002 | c0001 | t0001 | g0208 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01074 | hp1 | a0009 | c0011 | t0001 | g0043 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01074 | hp2 | a0002 | c0001 | t0001 | g0190 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01081 | hp1 | a0009 | c0011 | t0001 | g0041 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01081 | hp2 | a0004 | c0051 | t0001 | g0174 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01099 | hp1 | a0001 | c0002 | t0001 | g0091 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01099 | hp2 | a0001 | c0057 | t0012 | g0171 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01106 | hp1 | a0003 | c0004 | t0002 | g0058 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01106 | hp2 | a0004 | c0005 | t0001 | g0191 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01167 | hp1 | a0006 | c0010 | t0004 | g0150 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01167 | hp2 | a0001 | c0006 | t0001 | g0196 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01169 | hp1 | a0001 | c0002 | t0001 | g0114 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01169 | hp2 | a0006 | c0010 | t0004 | g0157 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01175 | hp1 | a0026 | c0071 | t0002 | g0065 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01175 | hp2 | a0003 | c0016 | t0001 | g0101 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01192 | hp1 | a0002 | c0001 | t0001 | g0039 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01192 | hp2 | a0001 | c0002 | t0001 | g0097 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01243 | hp1 | a0002 | c0001 | t0001 | g0037 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01243 | hp2 | a0001 | c0066 | t0001 | g0073 | AMR | PUR | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01261 | hp1 | a0002 | c0073 | t0010 | g0207 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01261 | hp2 | a0001 | c0006 | t0001 | g0170 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01433 | hp1 | a0002 | c0068 | t0001 | g0040 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01433 | hp2 | a0001 | c0006 | t0001 | g0175 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01884 | hp1 | a0002 | c0022 | t0001 | g0116 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01884 | hp2 | a0004 | c0052 | t0002 | g0051 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01891 | hp1 | a0004 | c0014 | t0007 | g0165 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01891 | hp2 | a0006 | c0024 | t0013 | g0152 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01934 | hp1 | a0008 | c0050 | t0001 | g0177 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01934 | hp2 | a0001 | c0021 | t0002 | g0047 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01952 | hp1 | a0002 | c0001 | t0001 | g0113 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01952 | hp2 | a0001 | c0006 | t0001 | g0169 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01975 | hp1 | a0001 | c0006 | t0001 | g0173 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01975 | hp2 | a0001 | c0002 | t0001 | g0189 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01978 | hp1 | a0001 | c0002 | t0001 | g0140 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01978 | hp2 | a0010 | c0015 | t0001 | g0087 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01981 | hp1 | a0004 | c0005 | t0001 | g0148 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01981 | hp2 | a0002 | c0001 | t0001 | g0103 | AMR | PEL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02056 | hp1 | a0002 | c0001 | t0001 | g0185 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02056 | hp2 | a0001 | c0018 | t0005 | g0203 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02080 | hp1 | a0001 | c0003 | t0002 | g0019 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02080 | hp2 | a0002 | c0001 | t0001 | g0110 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02083 | hp1 | a0013 | c0019 | t0001 | g0127 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02083 | hp2 | a0002 | c0062 | t0001 | g0012 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02129 | hp1 | a0001 | c0002 | t0001 | g0025 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02129 | hp2 | a0001 | c0003 | t0002 | g0017 | EAS | KHV | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02145 | hp1 | a0003 | c0008 | t0011 | g0167 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02145 | hp2 | a0003 | c0004 | t0002 | g0059 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02257 | hp1 | a0002 | c0045 | t0002 | g0192 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02257 | hp2 | a0005 | c0048 | t0001 | g0206 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02258 | hp1 | a0002 | c0022 | t0003 | g0131 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02258 | hp2 | a0025 | c0070 | t0001 | g0197 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02451 | hp1 | a0003 | c0008 | t0001 | g0162 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02451 | hp2 | a0008 | c0017 | t0001 | g0168 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02572 | hp1 | a0002 | c0001 | t0001 | g0086 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02572 | hp2 | a0003 | c0004 | t0002 | g0066 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02615 | hp1 | a0007 | c0012 | t0001 | g0032 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02615 | hp2 | a0003 | c0004 | t0002 | g0076 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02622 | hp1 | a0008 | c0017 | t0001 | g0176 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02622 | hp2 | a0005 | c0029 | t0001 | g0077 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02630 | hp1 | a0002 | c0001 | t0003 | g0130 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02630 | hp2 | a0003 | c0013 | t0006 | g0054 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02647 | hp1 | a0016 | c0067 | t0001 | g0195 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02647 | hp2 | a0012 | c0054 | t0001 | g0026 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02698 | hp1 | a0004 | c0005 | t0001 | g0138 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02698 | hp2 | a0001 | c0002 | t0001 | g0149 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02717 | hp1 | a0003 | c0008 | t0001 | g0158 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02717 | hp2 | a0002 | c0001 | t0008 | g0045 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02735 | hp1 | a0015 | c0027 | t0005 | g0205 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02735 | hp2 | a0002 | c0001 | t0001 | g0129 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02738 | hp1 | a0001 | c0002 | t0001 | g0088 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02738 | hp2 | a0019 | c0049 | t0001 | g0198 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02886 | hp1 | a0005 | c0065 | t0001 | g0068 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02886 | hp2 | a0003 | c0004 | t0002 | g0069 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02896 | hp1 | a0027 | c0031 | t0001 | g0072 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02896 | hp2 | a0001 | c0003 | t0002 | g0067 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02922 | hp1 | a0005 | c0061 | t0002 | g0071 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02922 | hp2 | a0003 | c0004 | t0002 | g0063 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02965 | hp1 | a0004 | c0009 | t0004 | g0079 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02965 | hp2 | a0001 | c0059 | t0002 | g0052 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02970 | hp1 | a0003 | c0004 | t0002 | g0050 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02970 | hp2 | a0006 | c0064 | t0006 | g0057 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02976 | hp1 | a0004 | c0009 | t0004 | g0078 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02976 | hp2 | a0003 | c0030 | t0002 | g0064 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03017 | hp1 | a0004 | c0005 | t0001 | g0147 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03017 | hp2 | a0013 | c0019 | t0001 | g0186 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03098 | hp1 | a0011 | c0020 | t0002 | g0027 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03098 | hp2 | a0005 | c0007 | t0003 | g0094 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03130 | hp1 | a0005 | c0007 | t0003 | g0134 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03130 | hp2 | a0003 | c0013 | t0001 | g0141 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03139 | hp1 | a0005 | c0034 | t0001 | g0182 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03139 | hp2 | a0005 | c0007 | t0003 | g0136 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03195 | hp1 | a0003 | c0016 | t0001 | g0181 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03195 | hp2 | a0002 | c0001 | t0003 | g0188 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03209 | hp1 | a0003 | c0004 | t0002 | g0062 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03209 | hp2 | a0001 | c0002 | t0001 | g0085 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03225 | hp1 | a0011 | c0020 | t0002 | g0028 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03225 | hp2 | a0004 | c0023 | t0001 | g0151 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03453 | hp1 | a0003 | c0013 | t0006 | g0055 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03453 | hp2 | a0003 | c0008 | t0001 | g0160 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03490 | hp1 | a0001 | c0002 | t0001 | g0106 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03490 | hp2 | a0001 | c0002 | t0001 | g0034 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03491 | hp1 | a0002 | c0001 | t0001 | g0108 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03491 | hp2 | a0001 | c0002 | t0001 | g0183 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03516 | hp1 | a0005 | c0007 | t0008 | g0049 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03516 | hp2 | a0004 | c0009 | t0004 | g0153 | AFR | ESN | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03540 | hp1 | a0006 | c0053 | t0002 | g0029 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03540 | hp2 | a0004 | c0009 | t0004 | g0156 | AFR | GWD | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03579 | hp1 | a0017 | c0028 | t0004 | g0155 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03579 | hp2 | a0002 | c0063 | t0002 | g0048 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03654 | hp1 | a0001 | c0036 | t0002 | g0042 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03654 | hp2 | a0001 | c0026 | t0002 | g0201 | SAS | PJL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG04199 | hp1 | a0002 | c0001 | t0001 | g0125 | SAS | STU | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG04199 | hp2 | a0001 | c0056 | t0001 | g0172 | SAS | STU | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG04204 | hp1 | a0001 | c0002 | t0001 | g0089 | SAS | STU | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG04204 | hp2 | a0001 | c0002 | t0001 | g0093 | SAS | STU | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18522 | hp1 | a0001 | c0069 | t0002 | g0061 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18522 | hp2 | a0003 | c0047 | t0001 | g0070 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18747 | hp1 | a0002 | c0001 | t0001 | g0145 | EAS | CHB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18747 | hp2 | a0001 | c0003 | t0002 | g0011 | EAS | CHB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18906 | hp1 | a0007 | c0012 | t0001 | g0031 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18906 | hp2 | a0004 | c0014 | t0007 | g0163 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18941 | hp1 | a0001 | c0002 | t0001 | g0123 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18941 | hp2 | a0001 | c0003 | t0002 | g0021 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18945 | hp1 | a0002 | c0001 | t0001 | g0132 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18945 | hp2 | a0001 | c0002 | t0001 | g0179 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18949 | hp1 | a0002 | c0060 | t0009 | g0005 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18949 | hp2 | a0002 | c0001 | t0001 | g0100 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18950 | hp1 | a0001 | c0003 | t0002 | g0010 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18950 | hp2 | a0002 | c0001 | t0001 | g0139 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18952 | hp1 | a0002 | c0001 | t0001 | g0184 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18952 | hp2 | a0001 | c0025 | t0001 | g0202 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18954 | hp1 | a0002 | c0001 | t0001 | g0143 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18954 | hp2 | a0001 | c0003 | t0002 | g0009 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18956 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18956 | hp2 | a0001 | c0003 | t0002 | g0104 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18957 | hp1 | a0001 | c0003 | t0014 | g0007 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18957 | hp2 | a0024 | c0033 | t0001 | g0074 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18960 | hp1 | a0002 | c0001 | t0001 | g0081 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18960 | hp2 | a0001 | c0003 | t0002 | g0014 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18993 | hp1 | a0020 | c0035 | t0001 | g0090 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18993 | hp2 | a0001 | c0003 | t0002 | g0023 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18995 | hp1 | a0001 | c0006 | t0005 | g0199 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA18995 | hp2 | a0002 | c0001 | t0001 | g0117 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19005 | hp1 | a0001 | c0003 | t0002 | g0018 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19005 | hp2 | a0002 | c0001 | t0001 | g0105 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19007 | hp1 | a0001 | c0003 | t0002 | g0013 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19007 | hp2 | a0002 | c0001 | t0001 | g0119 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19010 | hp1 | a0002 | c0001 | t0001 | g0109 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19010 | hp2 | a0001 | c0003 | t0002 | g0024 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19043 | hp1 | a0001 | c0039 | t0001 | g0084 | AFR | LWK | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19043 | hp2 | a0002 | c0001 | t0003 | g0133 | AFR | LWK | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19064 | hp1 | a0001 | c0006 | t0005 | g0200 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19064 | hp2 | a0004 | c0005 | t0001 | g0137 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19065 | hp1 | a0001 | c0003 | t0002 | g0008 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19065 | hp2 | a0022 | c0043 | t0001 | g0115 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19070 | hp1 | a0001 | c0003 | t0002 | g0128 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19070 | hp2 | a0002 | c0001 | t0005 | g0015 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19079 | hp1 | a0002 | c0001 | t0001 | g0111 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19079 | hp2 | a0014 | c0032 | t0002 | g0022 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19080 | hp1 | a0001 | c0018 | t0001 | g0204 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19080 | hp2 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19083 | hp1 | a0021 | c0042 | t0001 | g0144 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19083 | hp2 | a0001 | c0003 | t0002 | g0004 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19084 | hp1 | a0001 | c0003 | t0002 | g0016 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19084 | hp2 | a0002 | c0001 | t0001 | g0082 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19086 | hp1 | a0002 | c0001 | t0001 | g0083 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19086 | hp2 | a0001 | c0003 | t0002 | g0006 | EAS | JPT | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19240 | hp1 | a0005 | c0007 | t0002 | g0193 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA19240 | hp2 | a0001 | c0046 | t0001 | g0159 | AFR | YRI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA20129 | hp1 | a0012 | c0037 | t0001 | g0095 | AFR | ASW | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA20129 | hp2 | a0003 | c0008 | t0001 | g0166 | AFR | ASW | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA20752 | hp1 | a0001 | c0002 | t0001 | g0118 | EUR | TSI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA20752 | hp2 | a0007 | c0055 | t0001 | g0033 | EUR | TSI | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01123 | hp1 | a0002 | c0001 | t0001 | g0038 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG01123 | hp2 | a0001 | c0006 | t0001 | g0178 | AMR | CLM | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02109 | hp1 | a0001 | c0058 | t0002 | g0046 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02109 | hp2 | a0005 | c0007 | t0003 | g0135 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02486 | hp1 | a0003 | c0008 | t0001 | g0194 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02486 | hp2 | a0003 | c0004 | t0002 | g0060 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02559 | hp1 | a0001 | c0021 | t0006 | g0056 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG02559 | hp2 | a0003 | c0004 | t0002 | g0053 | AFR | ACB | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03471 | hp1 | a0004 | c0014 | t0007 | g0164 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG03471 | hp2 | a0003 | c0004 | t0002 | g0075 | AFR | MSL | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG06807 | hp1 | a0010 | c0015 | t0001 | g0142 | AFR | USA | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| HG06807 | hp2 | a0006 | c0010 | t0004 | g0154 | AFR | USA | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA21309 | hp1 | a0028 | c0072 | t0001 | g0161 | AFR | LWK | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| NA21309 | hp2 | a0007 | c0012 | t0001 | g0030 | AFR | LWK | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0001 | g0098 | REF | REF | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| homoSapiens_grch38 | hp1 | a0002 | c0001 | t0001 | g0080 | REF | REF | EP400_chr12_131944942_132085460 | EP400 | chr12 | 131944942 | 132085460 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:131961130
|
G | A | 1 | a0010 | 2 | HG01978.hp2 HG06807.hp1 |
missense_variant | MODERATE | c.511G>A | p.Val171Met | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 641/12289 | 511/9372 | 171/3123 | chr12 | 131961130 | ||
| chr12:131982270
|
C | T | 1 | a0028 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.1721C>T | p.Ala574Val | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/53 | 1851/12289 | 1721/9372 | 574/3123 | chr12 | 131982270 | ||
| chr12:131991415
|
T | G | 1 | a0027 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.2638T>G | p.Leu880Val | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/53 | 2768/12289 | 2638/9372 | 880/3123 | chr12 | 131991415 | ||
| chr12:131994906
|
A | G | 1 | a0026 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.2777A>G | p.Asn926Ser | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/53 | 2907/12289 | 2777/9372 | 926/3123 | chr12 | 131994906 | ||
| chr12:132017657
|
C | T | 1 | a0025 | 1 | HG02258.hp2 | missense_variant | MODERATE | c.4046C>T | p.Ala1349Val | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 20/53 | 4176/12289 | 4046/9372 | 1349/3123 | chr12 | 132017657 | ||
| chr12:132020123
|
G | A | 1 | a0014 | 1 | NA19079.hp2 | missense_variant | MODERATE | c.4352G>A | p.Arg1451Gln | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/53 | 4482/12289 | 4352/9372 | 1451/3123 | chr12 | 132020123 | ||
| chr12:132020192
|
C | T | 1 | a0015 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.4421C>T | p.Thr1474Met | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/53 | 4551/12289 | 4421/9372 | 1474/3123 | chr12 | 132020192 | ||
| chr12:132021184
|
T | C | 1 | a0024 | 1 | NA18957.hp2 | missense_variant | MODERATE | c.4553T>C | p.Leu1518Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/53 | 4683/12289 | 4553/9372 | 1518/3123 | chr12 | 132021184 | ||
| chr12:132028231
|
G | T | 1 | a0016 | 1 | HG02647.hp1 | missense_variant | MODERATE | c.5324G>T | p.Ser1775Ile | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/53 | 5454/12289 | 5324/9372 | 1775/3123 | chr12 | 132028231 | ||
| chr12:132037986
|
C | T | 1 | a0023 | 1 | HG00642.hp1 | missense_variant | MODERATE | c.6097C>T | p.Pro2033Ser | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/53 | 6227/12289 | 6097/9372 | 2033/3123 | chr12 | 132037986 | ||
| chr12:132043358
|
G | T | 1 | a0022 | 1 | NA19065.hp2 | missense_variant | MODERATE | c.6262G>T | p.Gly2088Trp | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 33/53 | 6392/12289 | 6262/9372 | 2088/3123 | chr12 | 132043358 | ||
| chr12:132053377
|
C | G | 1 | a0021 | 1 | NA19083.hp1 | missense_variant | MODERATE | c.7508C>G | p.Ala2503Gly | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/53 | 7638/12289 | 7508/9372 | 2503/3123 | chr12 | 132053377 | ||
| chr12:132062523
|
G | GGCA | 10 | a0001a0003a0008others(7): Show | 78 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(75): Show |
disruptive_inframe_insertion | MODERATE | c.8175_8177dupGCA | p.Gln2726dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8308/12289 | 8178/9372 | 2726/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062523 | |
| chr12:132062542
|
G | GCAGCAA | 2 | a0004a0006 | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
disruptive_inframe_insertion | MODERATE | c.8177_8178insGCAACA | p.Gln2725_Gln2726dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8308/12289 | 8178/9372 | 2726/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062542 | |
| chr12:132062548
|
A | ACAACAGC others(5): Show |
1 | a0017 | 1 | HG03579.hp1 | disruptive_inframe_insertion | MODERATE | c.8183_8184insACAGCA others(6): Show |
p.Gln2725_Gln2728dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8314/12289 | 8184/9372 | 2728/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132062548
|
A | ACAG | 5 | a0001a0021a0022others(2): Show | 28 | HG00140.hp1 HG00408.hp2 HG00642.hp1 others(25): Show |
disruptive_inframe_insertion | MODERATE | c.8223_8225dupGCA | p.Gln2742dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132062548
|
A | ACAGCAG | 3 | a0004a0006a0007 | 18 | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(15): Show |
disruptive_inframe_insertion | MODERATE | c.8220_8225dupGCAGCA | p.Gln2741_Gln2742dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132062548
|
A | ACAGCAGC others(2): Show |
2 | a0011a0012 | 4 | HG02647.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
disruptive_inframe_insertion | MODERATE | c.8217_8225dupGCAGCA others(3): Show |
p.Gln2740_Gln2742dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132062548
|
A | ACAGCAGC others(5): Show |
1 | a0018 | 1 | HG00280.hp2 | disruptive_inframe_insertion | MODERATE | c.8214_8225dupGCAGCA others(6): Show |
p.Gln2739_Gln2742dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132062548
|
ACAG | A | 2 | a0016a0020 | 2 | HG02647.hp1 NA18993.hp1 |
disruptive_inframe_deletion | MODERATE | c.8223_8225delGCA | p.Gln2742del | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8353/12289 | 8223/9372 | 2741/3123 | INFO_REALIGN_3_PRIME | chr12 | 132062548 | |
| chr12:132064755
|
A | G | 8 | a0003a0005a0006others(5): Show | 52 | HG01106.hp1 HG01167.hp1 HG01169.hp2 others(49): Show |
missense_variant | MODERATE | c.8422A>G | p.Thr2808Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/53 | 8552/12289 | 8422/9372 | 2808/3123 | chr12 | 132064755 | ||
| chr12:132077581
|
G | A | 6 | a0007a0008a0013others(3): Show | 12 | HG00280.hp2 HG01934.hp1 HG02083.hp1 others(9): Show |
missense_variant | MODERATE | c.9280G>A | p.Ala3094Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 9410/12289 | 9280/9372 | 3094/3123 | chr12 | 132077581 | ||
| chr12:132077601
|
C | CCAG | 1 | a0009 | 3 | HG00642.hp2 HG01074.hp1 HG01081.hp1 |
disruptive_inframe_insertion | MODERATE | c.9305_9307dupAGC | p.Gln3102dup | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 9438/12289 | 9308/9372 | 3103/3123 | INFO_REALIGN_3_PRIME | chr12 | 132077601 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:131960991
|
G | A | 2 | a0004c0023a0006c0024 | 2 | HG01891.hp2 HG03225.hp2 |
synonymous_variant | LOW | c.372G>A | p.Thr124Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 502/12289 | 372/9372 | 124/3123 | chr12 | 131960991 | ||
| chr12:131961477
|
G | A | 1 | a0003c0016 | 2 | HG01175.hp2 HG03195.hp1 |
synonymous_variant | LOW | c.858G>A | p.Pro286Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 988/12289 | 858/9372 | 286/3123 | chr12 | 131961477 | ||
| chr12:131961510
|
A | G | 3 | a0002c0022a0002c0073a0004c0014 | 6 | HG01261.hp1 HG01884.hp1 HG01891.hp1 others(3): Show |
synonymous_variant | LOW | c.891A>G | p.Thr297Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 1021/12289 | 891/9372 | 297/3123 | chr12 | 131961510 | ||
| chr12:131961834
|
T | C | 1 | a0008c0017 | 2 | HG02451.hp2 HG02622.hp1 |
synonymous_variant | LOW | c.1215T>C | p.Ala405Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 1345/12289 | 1215/9372 | 405/3123 | chr12 | 131961834 | ||
| chr12:131961903
|
G | A | 9 | a0001c0018a0001c0025a0001c0026others(6): Show | 15 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(12): Show |
synonymous_variant | LOW | c.1284G>A | p.Glu428Glu | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/53 | 1414/12289 | 1284/9372 | 428/3123 | chr12 | 131961903 | ||
| chr12:131981508
|
C | T | 2 | a0004c0023a0006c0024 | 2 | HG01891.hp2 HG03225.hp2 |
synonymous_variant | LOW | c.1455C>T | p.Arg485Arg | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 4/53 | 1585/12289 | 1455/9372 | 485/3123 | chr12 | 131981508 | ||
| chr12:131982328
|
G | A | 1 | a0005c0029 | 1 | HG02622.hp2 | synonymous_variant | LOW | c.1779G>A | p.Pro593Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/53 | 1909/12289 | 1779/9372 | 593/3123 | chr12 | 131982328 | ||
| chr12:131986525
|
G | C | 1 | a0003c0030 | 1 | HG02976.hp2 | synonymous_variant | LOW | c.1941G>C | p.Ser647Ser | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/53 | 2071/12289 | 1941/9372 | 647/3123 | chr12 | 131986525 | ||
| chr12:132006215
|
C | T | 1 | a0005c0029 | 1 | HG02622.hp2 | synonymous_variant | LOW | c.3039C>T | p.Ile1013Ile | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 14/53 | 3169/12289 | 3039/9372 | 1013/3123 | chr12 | 132006215 | ||
| chr12:132006275
|
G | A | 4 | a0001c0018a0001c0025a0001c0026others(1): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
synonymous_variant | LOW | c.3099G>A | p.Pro1033Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 14/53 | 3229/12289 | 3099/9372 | 1033/3123 | chr12 | 132006275 | ||
| chr12:132006777
|
A | G | 4 | a0001c0018a0001c0025a0001c0026others(1): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
synonymous_variant | LOW | c.3204A>G | p.Lys1068Lys | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/53 | 3334/12289 | 3204/9372 | 1068/3123 | chr12 | 132006777 | ||
| chr12:132017664
|
A | G | 1 | a0001c0069 | 1 | NA18522.hp1 | synonymous_variant | LOW | c.4053A>G | p.Pro1351Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 20/53 | 4183/12289 | 4053/9372 | 1351/3123 | chr12 | 132017664 | ||
| chr12:132020094
|
C | T | 1 | a0002c0068 | 1 | HG01433.hp1 | synonymous_variant | LOW | c.4323C>T | p.Thr1441Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/53 | 4453/12289 | 4323/9372 | 1441/3123 | chr12 | 132020094 | ||
| chr12:132021257
|
G | A | 1 | a0024c0033 | 1 | NA18957.hp2 | synonymous_variant | LOW | c.4626G>A | p.Ala1542Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/53 | 4756/12289 | 4626/9372 | 1542/3123 | chr12 | 132021257 | ||
| chr12:132023844
|
A | G | 49 | a0001c0003a0001c0006a0001c0018others(46): Show | 107 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(104): Show |
synonymous_variant | LOW | c.4758A>G | p.Pro1586Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/53 | 4888/12289 | 4758/9372 | 1586/3123 | chr12 | 132023844 | ||
| chr12:132025731
|
G | A | 1 | a0001c0046 | 1 | NA19240.hp2 | synonymous_variant | LOW | c.4941G>A | p.Ala1647Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/53 | 5071/12289 | 4941/9372 | 1647/3123 | chr12 | 132025731 | ||
| chr12:132025773
|
C | T | 1 | a0002c0045 | 1 | HG02257.hp1 | synonymous_variant | LOW | c.4983C>T | p.Gly1661Gly | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/53 | 5113/12289 | 4983/9372 | 1661/3123 | chr12 | 132025773 | ||
| chr12:132028049
|
G | C | 1 | a0001c0025 | 1 | NA18952.hp2 | synonymous_variant | LOW | c.5142G>C | p.Leu1714Leu | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/53 | 5272/12289 | 5142/9372 | 1714/3123 | chr12 | 132028049 | ||
| chr12:132028199
|
G | A | 2 | a0004c0023a0006c0024 | 2 | HG01891.hp2 HG03225.hp2 |
synonymous_variant | LOW | c.5292G>A | p.Ala1764Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/53 | 5422/12289 | 5292/9372 | 1764/3123 | chr12 | 132028199 | ||
| chr12:132029743
|
C | G | 18 | a0001c0003a0001c0021a0001c0058others(15): Show | 52 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(49): Show |
synonymous_variant | LOW | c.5424C>G | p.Ser1808Ser | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 28/53 | 5554/12289 | 5424/9372 | 1808/3123 | chr12 | 132029743 | ||
| chr12:132043441
|
G | A | 4 | a0001c0018a0001c0025a0001c0026others(1): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
synonymous_variant | LOW | c.6345G>A | p.Glu2115Glu | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 33/53 | 6475/12289 | 6345/9372 | 2115/3123 | chr12 | 132043441 | ||
| chr12:132044179
|
C | T | 1 | a0001c0057 | 1 | HG01099.hp2 | splice_region_variant&synonymous_variant | LOW | c.6453C>T | p.Asp2151Asp | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 35/53 | 6583/12289 | 6453/9372 | 2151/3123 | chr12 | 132044179 | ||
| chr12:132044272
|
G | A | 1 | a0001c0058 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.6546G>A | p.Ala2182Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 35/53 | 6676/12289 | 6546/9372 | 2182/3123 | chr12 | 132044272 | ||
| chr12:132044823
|
G | A | 1 | a0001c0059 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.6654G>A | p.Pro2218Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/53 | 6784/12289 | 6654/9372 | 2218/3123 | chr12 | 132044823 | ||
| chr12:132055000
|
T | G | 3 | a0003c0047a0005c0029a0005c0034 | 3 | HG02622.hp2 HG03139.hp1 NA18522.hp2 |
synonymous_variant | LOW | c.7755T>G | p.Thr2585Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 44/53 | 7885/12289 | 7755/9372 | 2585/3123 | chr12 | 132055000 | ||
| chr12:132062545
|
A | G | 15 | a0001c0056a0002c0040a0002c0041others(12): Show | 20 | HG00558.hp2 HG00597.hp1 HG01081.hp2 others(17): Show |
synonymous_variant | LOW | c.8178A>G | p.Gln2726Gln | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8308/12289 | 8178/9372 | 2726/3123 | chr12 | 132062545 | ||
| chr12:132062548
|
A | G | 17 | a0001c0006a0001c0046a0001c0056others(14): Show | 35 | HG01099.hp2 HG01123.hp2 HG01167.hp1 others(32): Show |
synonymous_variant | LOW | c.8181A>G | p.Gln2727Gln | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8311/12289 | 8181/9372 | 2727/3123 | chr12 | 132062548 | ||
| chr12:132062551
|
G | A | 1 | a0002c0063 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.8184G>A | p.Gln2728Gln | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8314/12289 | 8184/9372 | 2728/3123 | chr12 | 132062551 | ||
| chr12:132062593
|
A | G | 1 | a0007c0055 | 1 | NA20752.hp2 | synonymous_variant | LOW | c.8226A>G | p.Gln2742Gln | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | chr12 | 132062593 | ||
| chr12:132062617
|
G | A | 17 | a0001c0003a0001c0021a0001c0026others(14): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
synonymous_variant | LOW | c.8250G>A | p.Thr2750Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8380/12289 | 8250/9372 | 2750/3123 | chr12 | 132062617 | ||
| chr12:132064724
|
G | A | 2 | a0002c0040a0022c0043 | 2 | HG00597.hp1 NA19065.hp2 |
synonymous_variant | LOW | c.8391G>A | p.Pro2797Pro | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/53 | 8521/12289 | 8391/9372 | 2797/3123 | chr12 | 132064724 | ||
| chr12:132064817
|
G | A | 1 | a0002c0073 | 1 | HG01261.hp1 | synonymous_variant | LOW | c.8484G>A | p.Thr2828Thr | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/53 | 8614/12289 | 8484/9372 | 2828/3123 | chr12 | 132064817 | ||
| chr12:132077439
|
G | A | 1 | a0002c0062 | 1 | HG02083.hp2 | synonymous_variant | LOW | c.9138G>A | p.Ala3046Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 9268/12289 | 9138/9372 | 3046/3123 | chr12 | 132077439 | ||
| chr12:132077442
|
C | T | 12 | a0001c0003a0001c0026a0001c0036others(9): Show | 44 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(41): Show |
synonymous_variant | LOW | c.9141C>T | p.Ala3047Ala | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 9271/12289 | 9141/9372 | 3047/3123 | chr12 | 132077442 | ||
| chr12:132077535
|
G | A | 2 | a0002c0040a0002c0041 | 2 | HG00558.hp2 HG00597.hp1 |
synonymous_variant | LOW | c.9234G>A | p.Ser3078Ser | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 9364/12289 | 9234/9372 | 3078/3123 | chr12 | 132077535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:131949999
|
C | T | 1 | a0001c0003t0014 | 1 | NA18957.hp1 | 5_prime_UTR_variant | MODIFIER | c.-73C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/53 | 10621 | chr12 | 131949999 | |||||
| chr12:132077730
|
G | A | 20 | a0001c0003t0002a0001c0003t0014a0001c0021t0002others(17): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*57G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 57 | chr12 | 132077730 | |||||
| chr12:132077746
|
T | C | 20 | a0001c0003t0002a0001c0003t0014a0001c0021t0002others(17): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*73T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 73 | chr12 | 132077746 | |||||
| chr12:132077761
|
G | T | 2 | a0002c0001t0008a0005c0007t0008 | 2 | HG02717.hp2 HG03516.hp1 |
3_prime_UTR_variant | MODIFIER | c.*88G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 88 | chr12 | 132077761 | |||||
| chr12:132077783
|
A | G | 3 | a0001c0021t0006a0003c0013t0006a0006c0064t0006 | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*110A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 110 | chr12 | 132077783 | |||||
| chr12:132077866
|
C | T | 20 | a0001c0003t0002a0001c0003t0014a0001c0021t0002others(17): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*193C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 193 | chr12 | 132077866 | |||||
| chr12:132078035
|
G | A | 1 | a0002c0073t0010 | 1 | HG01261.hp1 | 3_prime_UTR_variant | MODIFIER | c.*362G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 362 | chr12 | 132078035 | |||||
| chr12:132078071
|
A | G | 3 | a0004c0009t0004a0006c0010t0004a0017c0028t0004 | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*398A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 398 | chr12 | 132078071 | |||||
| chr12:132078462
|
T | C | 28 | a0001c0003t0002a0001c0003t0014a0001c0006t0005others(25): Show | 67 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(64): Show |
3_prime_UTR_variant | MODIFIER | c.*789T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 789 | chr12 | 132078462 | |||||
| chr12:132078483
|
T | G | 20 | a0001c0003t0002a0001c0003t0014a0001c0021t0002others(17): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*810T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 810 | chr12 | 132078483 | |||||
| chr12:132078709
|
G | A | 24 | a0001c0003t0002a0001c0003t0014a0001c0006t0005others(21): Show | 56 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*1036G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 1036 | chr12 | 132078709 | |||||
| chr12:132078826
|
G | A | 20 | a0001c0003t0002a0001c0003t0014a0001c0021t0002others(17): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*1153G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 1153 | chr12 | 132078826 | |||||
| chr12:132079423
|
T | C | 1 | a0003c0008t0011 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1750T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 1750 | chr12 | 132079423 | |||||
| chr12:132079538
|
G | T | 1 | a0006c0024t0013 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1865G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 1865 | chr12 | 132079538 | |||||
| chr12:132079894
|
C | T | 1 | a0001c0057t0012 | 1 | HG01099.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2221C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 2221 | chr12 | 132079894 | |||||
| chr12:132080003
|
C | T | 1 | a0002c0060t0009 | 1 | NA18949.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2330C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 2330 | chr12 | 132080003 | |||||
| chr12:132080033
|
G | C | 1 | a0006c0024t0013 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2360G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 2360 | chr12 | 132080033 | |||||
| chr12:132080150
|
C | T | 3 | a0002c0001t0003a0002c0022t0003a0005c0007t0003 | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2477C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 53/53 | 2477 | chr12 | 132080150 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:131950086
|
C | T | 2 | a0002c0001t0001g0208a0002c0073t0010g0207 | 2 | HG01071.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.-36+50C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950086 | ||||||
| chr12:131950191
|
T | A | 24 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(21): Show | 24 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(21): Show |
intron_variant | MODIFIER | c.-36+155T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950191 | ||||||
| chr12:131950355
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-36+319C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950355 | ||||||
| chr12:131950387
|
G | C | 1 | a0001c0002t0001g0025 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-36+351G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950387 | ||||||
| chr12:131950599
|
CCTT | C | 8 | a0006c0053t0002g0029a0007c0012t0001g0030a0007c0012t0001g0031others(5): Show | 8 | HG02615.hp1 HG02647.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.-36+566_-36+568del others(3): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131950599 | |||||
| chr12:131950600
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-36+564C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950600 | ||||||
| chr12:131950739
|
C | T | 8 | a0006c0053t0002g0029a0007c0012t0001g0030a0007c0012t0001g0031others(5): Show | 8 | HG02615.hp1 HG02647.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.-36+703C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950739 | ||||||
| chr12:131950883
|
G | A | 1 | a0001c0002t0001g0034 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-36+847G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131950883 | ||||||
| chr12:131951005
|
T | G | 1 | a0004c0005t0001g0035 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-36+969T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951005 | ||||||
| chr12:131951060
|
T | C | 1 | a0002c0073t0010g0207 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-36+1024T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951060 | ||||||
| chr12:131951065
|
A | AT | 24 | a0001c0002t0001g0179a0001c0002t0001g0183a0001c0002t0001g0189others(21): Show | 24 | HG00735.hp1 HG00738.hp1 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.-36+1053dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951065
|
A | ATTT | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-36+1051_-36+1053d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951065
|
AT | A | 9 | a0001c0066t0001g0073a0003c0004t0002g0075a0003c0004t0002g0076others(6): Show | 9 | HG01243.hp2 HG02615.hp2 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.-36+1053delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951065
|
ATT | A | 19 | a0001c0003t0002g0067a0001c0021t0006g0056a0001c0069t0002g0061others(16): Show | 19 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.-36+1052_-36+1053d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951065
|
ATTT | A | 29 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(26): Show | 29 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(26): Show |
intron_variant | MODIFIER | c.-36+1051_-36+1053d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951065
|
ATTTTTTT | A | 9 | a0001c0036t0002g0042a0002c0001t0001g0037a0002c0001t0001g0038others(6): Show | 9 | HG00642.hp1 HG00642.hp2 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.-36+1047_-36+1053d others(9): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951065 | |||||
| chr12:131951091
|
G | T | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.-36+1055G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951091 | ||||||
| chr12:131951345
|
C | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-36+1309C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951345 | ||||||
| chr12:131951376
|
T | C | 1 | a0003c0004t0002g0053 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-36+1340T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951376 | ||||||
| chr12:131951432
|
C | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-36+1396C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951432 | ||||||
| chr12:131951693
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.-36+1657C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951693 | ||||||
| chr12:131951749
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.-36+1713C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951749 | ||||||
| chr12:131951840
|
G | A | 1 | a0002c0001t0001g0081 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.-36+1804G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951840 | ||||||
| chr12:131951943
|
C | CT | 9 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(6): Show | 9 | HG01169.hp2 HG01891.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.-36+1922dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951943 | |||||
| chr12:131951943
|
CT | C | 5 | a0001c0002t0001g0001a0001c0026t0002g0201a0005c0061t0002g0071others(2): Show | 5 | HG02451.hp2 HG02896.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-36+1922delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131951943 | |||||
| chr12:131951958
|
T | A | 15 | a0001c0021t0006g0056a0001c0046t0001g0159a0003c0008t0001g0158others(12): Show | 15 | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.-36+1922T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131951958 | ||||||
| chr12:131952096
|
T | G | 1 | a0002c0001t0008g0045 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-36+2060T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952096 | ||||||
| chr12:131952234
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.-36+2198C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952234 | ||||||
| chr12:131952297
|
T | C | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.-36+2261T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952297 | ||||||
| chr12:131952302
|
C | CA | 7 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0023others(4): Show | 7 | HG00438.hp2 HG01261.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.-36+2289dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131952302 | |||||
| chr12:131952302
|
CAA | C | 42 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(39): Show | 42 | HG01081.hp2 HG01099.hp2 HG01167.hp2 others(39): Show |
intron_variant | MODIFIER | c.-36+2288_-36+2289d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131952302 | |||||
| chr12:131952302
|
CAAA | C | 9 | a0001c0006t0001g0178a0004c0009t0004g0078a0004c0009t0004g0079others(6): Show | 9 | HG01123.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.-36+2287_-36+2289d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131952302 | |||||
| chr12:131952488
|
G | A | 1 | a0001c0026t0002g0201 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-36+2452G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952488 | ||||||
| chr12:131952674
|
A | G | 8 | a0001c0002t0001g0149a0002c0001t0001g0190a0002c0045t0002g0192others(5): Show | 8 | HG01071.hp1 HG01074.hp2 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.-36+2638A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952674 | ||||||
| chr12:131952700
|
T | C | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-36+2664T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952700 | ||||||
| chr12:131952812
|
C | T | 1 | a0003c0008t0011g0167 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-36+2776C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131952812 | ||||||
| chr12:131953243
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-36+3207C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131953243 | ||||||
| chr12:131953357
|
C | T | 1 | a0001c0003t0002g0021 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.-36+3321C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131953357 | ||||||
| chr12:131953390
|
T | G | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-36+3354T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131953390 | ||||||
| chr12:131953651
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-36+3615C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131953651 | ||||||
| chr12:131953941
|
C | T | 2 | a0006c0010t0004g0150a0006c0010t0004g0157 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.-36+3905C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131953941 | ||||||
| chr12:131954011
|
G | A | 1 | a0001c0003t0002g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-36+3975G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954011 | ||||||
| chr12:131954070
|
G | A | 1 | a0012c0054t0001g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-36+4034G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954070 | ||||||
| chr12:131954225
|
TA | T | 5 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(2): Show | 5 | HG02257.hp2 HG02559.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-36+4202delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131954225 | |||||
| chr12:131954258
|
G | A | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-36+4222G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954258 | ||||||
| chr12:131954376
|
C | T | 1 | a0001c0003t0002g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-36+4340C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954376 | ||||||
| chr12:131954447
|
G | T | 35 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.-36+4411G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954447 | ||||||
| chr12:131954640
|
G | A | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-36+4604G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954640 | ||||||
| chr12:131954706
|
T | C | 2 | a0001c0002t0001g0085a0002c0001t0001g0086 | 2 | HG02572.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-36+4670T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954706 | ||||||
| chr12:131954720
|
A | G | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.-36+4684A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954720 | ||||||
| chr12:131954726
|
G | GA | 117 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(114): Show | 117 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.-36+4712dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131954726 | |||||
| chr12:131954726
|
G | GAA | 15 | a0001c0002t0001g0088a0001c0002t0001g0089a0001c0002t0001g0091others(12): Show | 15 | HG00438.hp1 HG01099.hp1 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.-36+4711_-36+4712d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131954726 | |||||
| chr12:131954726
|
GA | G | 7 | a0001c0003t0002g0020a0001c0018t0001g0204a0001c0018t0005g0203others(4): Show | 7 | HG00597.hp2 HG02056.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.-36+4712delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131954726 | |||||
| chr12:131954734
|
A | C | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.-36+4698A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954734 | ||||||
| chr12:131954737
|
A | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.-36+4701A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954737 | ||||||
| chr12:131954836
|
T | C | 103 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(100): Show | 103 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.-36+4800T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954836 | ||||||
| chr12:131954868
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-36+4832A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954868 | ||||||
| chr12:131954953
|
G | A | 2 | a0012c0037t0001g0095a0018c0038t0001g0096 | 2 | HG00280.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-36+4917G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131954953 | ||||||
| chr12:131955016
|
T | G | 1 | a0004c0005t0001g0146 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-36+4980T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955016 | ||||||
| chr12:131955290
|
C | CT | 56 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.-36+5263dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131955290 | |||||
| chr12:131955305
|
G | A | 1 | a0003c0004t0002g0058 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-36+5269G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955305 | ||||||
| chr12:131955368
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-35-5217C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955368 | ||||||
| chr12:131955532
|
T | G | 1 | a0001c0002t0001g0097 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-35-5053T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955532 | ||||||
| chr12:131955725
|
T | A | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.-35-4860T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955725 | ||||||
| chr12:131955754
|
T | C | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.-35-4831T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955754 | ||||||
| chr12:131955892
|
C | T | 1 | a0001c0002t0001g0140 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-35-4693C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131955892 | ||||||
| chr12:131956125
|
T | C | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-35-4460T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131956125 | ||||||
| chr12:131956271
|
G | C | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-35-4314G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131956271 | ||||||
| chr12:131956631
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.-35-3954A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131956631 | ||||||
| chr12:131956873
|
C | CT | 116 | a0001c0002t0001g0025a0001c0002t0001g0034a0001c0002t0001g0085others(113): Show | 116 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.-35-3692dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131956873 | |||||
| chr12:131956873
|
C | CTT | 35 | a0001c0006t0001g0169a0001c0006t0001g0173a0001c0006t0001g0175others(32): Show | 35 | HG00642.hp2 HG01081.hp2 HG01099.hp2 others(32): Show |
intron_variant | MODIFIER | c.-35-3693_-35-3692d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131956873 | |||||
| chr12:131956873
|
CT | C | 11 | a0001c0069t0002g0061a0003c0004t0002g0058a0003c0004t0002g0059others(8): Show | 11 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.-35-3692delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131956873 | |||||
| chr12:131956906
|
C | G | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-35-3679C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131956906 | ||||||
| chr12:131956957
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-35-3628C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131956957 | ||||||
| chr12:131957032
|
C | T | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-35-3553C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131957032 | ||||||
| chr12:131957404
|
G | A | 49 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(46): Show | 49 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.-35-3181G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131957404 | ||||||
| chr12:131957525
|
C | CT | 9 | a0001c0002t0001g0189a0004c0005t0001g0137a0004c0009t0004g0153others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.-35-3047dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131957525 | |||||
| chr12:131957525
|
C | CTT | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0026t0002g0201others(3): Show | 6 | HG02056.hp2 HG02735.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.-35-3048_-35-3047d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131957525 | |||||
| chr12:131957579
|
C | CTTTA | 56 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.-35-2982_-35-2979d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | 131957579 | |||||
| chr12:131957618
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-35-2967A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131957618 | ||||||
| chr12:131957796
|
A | G | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-35-2789A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131957796 | ||||||
| chr12:131957927
|
G | T | 1 | a0002c0001t0001g0132 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.-35-2658G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131957927 | ||||||
| chr12:131958004
|
C | G | 2 | a0002c0045t0002g0192a0005c0007t0002g0193 | 2 | HG02257.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-35-2581C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131958004 | ||||||
| chr12:131958259
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-35-2326T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131958259 | ||||||
| chr12:131958593
|
A | G | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-35-1992A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131958593 | ||||||
| chr12:131959037
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.-35-1548A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959037 | ||||||
| chr12:131959051
|
G | A | 1 | a0001c0002t0001g0179 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.-35-1534G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959051 | ||||||
| chr12:131959294
|
G | C | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-35-1291G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959294 | ||||||
| chr12:131959456
|
C | T | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-35-1129C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959456 | ||||||
| chr12:131959471
|
G | A | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-35-1114G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959471 | ||||||
| chr12:131959567
|
C | G | 9 | a0001c0002t0001g0093a0001c0003t0002g0128a0002c0001t0001g0125others(6): Show | 9 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(6): Show |
intron_variant | MODIFIER | c.-35-1018C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959567 | ||||||
| chr12:131959695
|
C | G | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-35-890C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131959695 | ||||||
| chr12:131960015
|
C | T | 1 | a0004c0009t0004g0156 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-35-570C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131960015 | ||||||
| chr12:131960213
|
A | T | 4 | a0001c0036t0002g0042a0009c0011t0001g0041a0009c0011t0001g0043others(1): Show | 4 | HG00642.hp2 HG01074.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.-35-372A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131960213 | ||||||
| chr12:131960541
|
T | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.-35-44T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 1/52 | chr12 | 131960541 | ||||||
| chr12:131962188
|
A | G | 98 | a0001c0002t0001g0025a0001c0002t0001g0034a0001c0002t0001g0085others(95): Show | 98 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1335+234A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131962188 | ||||||
| chr12:131962198
|
C | T | 1 | a0001c0002t0001g0124 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1335+244C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131962198 | ||||||
| chr12:131963003
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+1049T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963003 | ||||||
| chr12:131963048
|
A | G | 1 | a0002c0001t0001g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1335+1094A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963048 | ||||||
| chr12:131963101
|
C | T | 1 | a0006c0064t0006g0057 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1335+1147C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963101 | ||||||
| chr12:131963158
|
A | G | 1 | a0001c0059t0002g0052 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1335+1204A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963158 | ||||||
| chr12:131963182
|
C | T | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1335+1228C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963182 | ||||||
| chr12:131963398
|
C | T | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1335+1444C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963398 | ||||||
| chr12:131963743
|
C | G | 57 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(54): Show | 57 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(54): Show |
intron_variant | MODIFIER | c.1335+1789C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963743 | ||||||
| chr12:131963787
|
G | A | 1 | a0001c0057t0012g0171 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1335+1833G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963787 | ||||||
| chr12:131963893
|
C | G | 1 | a0002c0001t0001g0083 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1335+1939C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131963893 | ||||||
| chr12:131964009
|
A | G | 1 | a0001c0003t0002g0023 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1335+2055A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964009 | ||||||
| chr12:131964010
|
G | A | 1 | a0001c0003t0002g0023 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1335+2056G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964010 | ||||||
| chr12:131964011
|
A | G | 1 | a0001c0003t0002g0023 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1335+2057A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964011 | ||||||
| chr12:131964014
|
C | A | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1335+2060C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964014 | ||||||
| chr12:131964292
|
T | C | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.1335+2338T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964292 | ||||||
| chr12:131964336
|
G | A | 1 | a0004c0005t0001g0180 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1335+2382G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964336 | ||||||
| chr12:131964398
|
C | T | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1335+2444C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964398 | ||||||
| chr12:131964410
|
T | A | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1335+2456T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964410 | ||||||
| chr12:131964456
|
G | T | 1 | a0003c0004t0002g0069 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1335+2502G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964456 | ||||||
| chr12:131964531
|
G | C | 1 | a0025c0070t0001g0197 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1335+2577G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964531 | ||||||
| chr12:131964691
|
A | T | 1 | a0001c0003t0002g0023 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1335+2737A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964691 | ||||||
| chr12:131964692
|
T | A | 1 | a0001c0003t0002g0023 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1335+2738T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131964692 | ||||||
| chr12:131965633
|
AC | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+3682delC | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131965633 | |||||
| chr12:131965645
|
T | C | 1 | a0001c0002t0001g0098 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1335+3691T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131965645 | ||||||
| chr12:131965708
|
T | A | 1 | a0012c0037t0001g0095 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1335+3754T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131965708 | ||||||
| chr12:131966038
|
CA | C | 5 | a0001c0002t0001g0123a0001c0057t0012g0171a0002c0001t0001g0122others(2): Show | 5 | HG00558.hp1 HG01099.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1335+4099delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966038 | |||||
| chr12:131966078
|
G | C | 19 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0004others(16): Show | 19 | HG00438.hp2 HG00597.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.1335+4124G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966078 | ||||||
| chr12:131966103
|
C | T | 7 | a0001c0021t0006g0056a0001c0066t0001g0073a0003c0013t0006g0054others(4): Show | 7 | HG01243.hp2 HG02559.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1335+4149C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966103 | ||||||
| chr12:131966108
|
G | C | 1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1335+4154G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966108 | ||||||
| chr12:131966142
|
C | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1335+4188C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966142 | ||||||
| chr12:131966299
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1335+4345A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966299 | ||||||
| chr12:131966323
|
A | C | 1 | a0002c0001t0001g0121 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1335+4369A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966323 | ||||||
| chr12:131966430
|
A | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1335+4476A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966430 | ||||||
| chr12:131966536
|
C | T | 7 | a0001c0046t0001g0159a0003c0008t0001g0160a0003c0008t0001g0162others(4): Show | 7 | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.1335+4582C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966536 | ||||||
| chr12:131966562
|
C | CA | 8 | a0001c0002t0001g0099a0002c0001t0001g0100a0002c0001t0001g0125others(5): Show | 8 | HG00597.hp1 HG01074.hp2 HG01175.hp2 others(5): Show |
intron_variant | MODIFIER | c.1335+4633dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
C | CAAAAAAA | 5 | a0001c0026t0002g0201a0004c0009t0004g0078a0004c0009t0004g0156others(2): Show | 5 | HG01167.hp1 HG01169.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1335+4627_1335+463 others(11): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
C | CAAAAAAA others(3): Show |
1 | a0004c0009t0004g0153 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1335+4624_1335+463 others(14): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
C | CAAAAAAA others(7): Show |
1 | a0001c0018t0005g0203 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1335+4620_1335+463 others(18): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
CA | C | 63 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(60): Show | 63 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(60): Show |
intron_variant | MODIFIER | c.1335+4633delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
CAAAAA | C | 5 | a0001c0056t0001g0172a0011c0020t0002g0027a0011c0020t0002g0028others(2): Show | 5 | HG02258.hp2 HG02738.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1335+4629_1335+463 others(9): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966562
|
CAAAAAA | C | 30 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(27): Show | 30 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(27): Show |
intron_variant | MODIFIER | c.1335+4628_1335+463 others(10): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966562 | |||||
| chr12:131966625
|
C | T | 2 | a0002c0040t0001g0102a0002c0041t0001g0120 | 2 | HG00558.hp2 HG00597.hp1 |
intron_variant | MODIFIER | c.1335+4671C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966625 | ||||||
| chr12:131966761
|
G | A | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1335+4807G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966761 | ||||||
| chr12:131966898
|
T | C | 61 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(58): Show | 61 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(58): Show |
intron_variant | MODIFIER | c.1335+4944T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966898 | ||||||
| chr12:131966903
|
C | CA | 24 | a0001c0002t0001g0001a0001c0002t0001g0088a0001c0002t0001g0099others(21): Show | 24 | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.1335+4971dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966903 | |||||
| chr12:131966903
|
C | CAA | 18 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0022t0003g0131others(15): Show | 18 | HG01167.hp1 HG01169.hp2 HG01978.hp2 others(15): Show |
intron_variant | MODIFIER | c.1335+4970_1335+497 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966903 | |||||
| chr12:131966903
|
C | CAAAA | 28 | a0001c0006t0001g0169a0001c0006t0001g0173a0001c0006t0001g0175others(25): Show | 28 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(25): Show |
intron_variant | MODIFIER | c.1335+4968_1335+497 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966903 | |||||
| chr12:131966903
|
C | CAAAAA | 6 | a0001c0006t0001g0170a0001c0006t0005g0199a0001c0046t0001g0159others(3): Show | 6 | HG01261.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.1335+4967_1335+497 others(9): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966903 | |||||
| chr12:131966903
|
CAAAAAAA | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+4965_1335+497 others(11): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131966903 | |||||
| chr12:131966926
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+4972C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966926 | ||||||
| chr12:131966937
|
T | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1335+4983T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131966937 | ||||||
| chr12:131967092
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1335+5138A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967092 | ||||||
| chr12:131967135
|
T | C | 7 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(4): Show | 7 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1335+5181T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967135 | ||||||
| chr12:131967150
|
G | T | 3 | a0001c0002t0001g0091a0001c0002t0001g0097a0001c0002t0001g0124 | 3 | HG00140.hp1 HG01099.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.1335+5196G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967150 | ||||||
| chr12:131967163
|
T | C | 117 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(114): Show | 117 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(114): Show |
intron_variant | MODIFIER | c.1335+5209T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967163 | ||||||
| chr12:131967273
|
C | T | 2 | a0003c0016t0001g0101a0003c0016t0001g0181 | 2 | HG01175.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1335+5319C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967273 | ||||||
| chr12:131967384
|
A | T | 2 | a0002c0001t0001g0125a0002c0001t0001g0129 | 2 | HG02735.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1335+5430A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967384 | ||||||
| chr12:131967388
|
T | A | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1335+5434T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967388 | ||||||
| chr12:131967445
|
T | C | 2 | a0002c0040t0001g0102a0002c0041t0001g0120 | 2 | HG00558.hp2 HG00597.hp1 |
intron_variant | MODIFIER | c.1335+5491T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967445 | ||||||
| chr12:131967551
|
G | A | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1335+5597G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131967551 | ||||||
| chr12:131968095
|
T | C | 1 | a0003c0016t0001g0101 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1335+6141T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968095 | ||||||
| chr12:131968137
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+6183G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968137 | ||||||
| chr12:131968189
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1335+6235A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968189 | ||||||
| chr12:131968558
|
C | T | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1335+6604C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968558 | ||||||
| chr12:131968815
|
G | C | 56 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0003others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.1335+6861G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968815 | ||||||
| chr12:131968883
|
G | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1335+6929G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131968883 | ||||||
| chr12:131969045
|
C | CT | 44 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(41): Show | 44 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(41): Show |
intron_variant | MODIFIER | c.1335+7103dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131969045 | |||||
| chr12:131969057
|
T | A | 1 | a0001c0003t0002g0104 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1335+7103T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969057 | ||||||
| chr12:131969061
|
G | A | 24 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(21): Show | 24 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(21): Show |
intron_variant | MODIFIER | c.1335+7107G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969061 | ||||||
| chr12:131969299
|
T | G | 1 | a0012c0054t0001g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1335+7345T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969299 | ||||||
| chr12:131969680
|
C | T | 1 | a0002c0001t0001g0119 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1335+7726C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969680 | ||||||
| chr12:131969688
|
C | G | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1335+7734C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969688 | ||||||
| chr12:131969692
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1335+7738C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969692 | ||||||
| chr12:131969821
|
G | A | 2 | a0001c0021t0002g0047a0001c0058t0002g0046 | 2 | HG01934.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.1335+7867G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969821 | ||||||
| chr12:131969933
|
C | T | 19 | a0001c0002t0001g0001a0001c0003t0002g0002a0001c0003t0002g0004others(16): Show | 19 | HG00438.hp2 HG00597.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.1335+7979C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131969933 | ||||||
| chr12:131970233
|
C | T | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1335+8279C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970233 | ||||||
| chr12:131970354
|
CT | C | 2 | a0010c0015t0001g0087a0010c0015t0001g0142 | 2 | HG01978.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1335+8401delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970354 | ||||||
| chr12:131970483
|
G | A | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1335+8529G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970483 | ||||||
| chr12:131970510
|
G | A | 1 | a0007c0012t0001g0030 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1335+8556G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970510 | ||||||
| chr12:131970527
|
C | CT | 7 | a0001c0006t0005g0199a0001c0006t0005g0200a0008c0017t0001g0168others(4): Show | 7 | HG01934.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1335+8573_1335+857 others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970527 | ||||||
| chr12:131970831
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-8863A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970831 | ||||||
| chr12:131970873
|
C | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1336-8821C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131970873 | ||||||
| chr12:131971175
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-8519G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131971175 | ||||||
| chr12:131971210
|
A | G | 2 | a0010c0015t0001g0087a0010c0015t0001g0142 | 2 | HG01978.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1336-8484A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131971210 | ||||||
| chr12:131971244
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-8450C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131971244 | ||||||
| chr12:131971344
|
G | A | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-8350G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131971344 | ||||||
| chr12:131971693
|
AT | A | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG01081.hp1 HG02056.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.1336-7987delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131971693 | |||||
| chr12:131972127
|
G | A | 1 | a0001c0018t0001g0204 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1336-7567G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972127 | ||||||
| chr12:131972136
|
CTTTCTTT others(5): Show |
C | 5 | a0001c0002t0001g0001a0001c0003t0002g0006a0001c0003t0002g0014others(2): Show | 5 | NA18956.hp1 NA18960.hp2 NA19070.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-7542_1336-753 others(16): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972136 | |||||
| chr12:131972152
|
CTTTTTCT | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-7536_1336-753 others(11): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972152 | |||||
| chr12:131972158
|
CT | C | 9 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(6): Show | 9 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(6): Show |
intron_variant | MODIFIER | c.1336-7523delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972158 | |||||
| chr12:131972213
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-7481C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972213 | ||||||
| chr12:131972227
|
A | G | 18 | a0001c0069t0002g0061a0002c0001t0008g0045a0002c0063t0002g0048others(15): Show | 18 | HG01106.hp1 HG01175.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.1336-7467A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972227 | ||||||
| chr12:131972238
|
C | T | 1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1336-7456C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972238 | ||||||
| chr12:131972304
|
G | A | 1 | a0001c0002t0001g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1336-7390G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972304 | ||||||
| chr12:131972344
|
G | A | 1 | a0001c0002t0001g0034 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1336-7350G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972344 | ||||||
| chr12:131972452
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-7242C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972452 | ||||||
| chr12:131972573
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1336-7121A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972573 | ||||||
| chr12:131972575
|
A | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1336-7119A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972575 | ||||||
| chr12:131972645
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-7049C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972645 | ||||||
| chr12:131972674
|
CCTGTTAG others(2): Show |
C | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1336-7019_1336-701 others(13): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972674 | ||||||
| chr12:131972684
|
A | T | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1336-7010A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972684 | ||||||
| chr12:131972685
|
A | C | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1336-7009A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972685 | ||||||
| chr12:131972725
|
C | CT | 16 | a0001c0002t0001g0118a0001c0002t0001g0140a0002c0001t0001g0039others(13): Show | 16 | HG00735.hp2 HG01192.hp1 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.1336-6945dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972725 | |||||
| chr12:131972725
|
CT | C | 90 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0003t0002g0004others(87): Show | 90 | HG00597.hp2 HG01081.hp2 HG01099.hp2 others(87): Show |
intron_variant | MODIFIER | c.1336-6945delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972725 | |||||
| chr12:131972725
|
CTT | C | 5 | a0001c0003t0002g0014a0006c0053t0002g0029a0007c0012t0001g0031others(2): Show | 5 | HG02615.hp1 HG03540.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336-6946_1336-694 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131972725 | |||||
| chr12:131972726
|
T | G | 1 | a0002c0001t0001g0190 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1336-6968T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972726 | ||||||
| chr12:131972794
|
C | T | 3 | a0003c0047t0001g0070a0004c0023t0001g0151a0006c0024t0013g0152 | 3 | HG01891.hp2 HG03225.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1336-6900C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972794 | ||||||
| chr12:131972830
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-6864C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972830 | ||||||
| chr12:131972923
|
G | C | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1336-6771G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131972923 | ||||||
| chr12:131973312
|
T | A | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-6382T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131973312 | ||||||
| chr12:131973579
|
G | C | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1336-6115G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131973579 | ||||||
| chr12:131973690
|
A | G | 1 | a0002c0068t0001g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1336-6004A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131973690 | ||||||
| chr12:131973830
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1336-5864A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131973830 | ||||||
| chr12:131973988
|
A | AT | 11 | a0001c0057t0012g0171a0002c0060t0009g0005a0004c0009t0004g0078others(8): Show | 11 | HG01099.hp2 HG01169.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1336-5688dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131973988 | |||||
| chr12:131974081
|
C | T | 1 | a0001c0021t0006g0056 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1336-5613C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974081 | ||||||
| chr12:131974091
|
A | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-5603A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974091 | ||||||
| chr12:131974196
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-5498C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974196 | ||||||
| chr12:131974331
|
G | A | 1 | a0019c0049t0001g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1336-5363G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974331 | ||||||
| chr12:131974363
|
G | A | 1 | a0002c0001t0001g0105 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.1336-5331G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974363 | ||||||
| chr12:131974567
|
T | C | 1 | a0001c0003t0014g0007 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1336-5127T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974567 | ||||||
| chr12:131974665
|
T | C | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1336-5029T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974665 | ||||||
| chr12:131974785
|
C | T | 1 | a0001c0002t0001g0124 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1336-4909C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974785 | ||||||
| chr12:131974788
|
A | G | 198 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(195): Show | 198 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.1336-4906A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131974788 | ||||||
| chr12:131974987
|
C | CA | 6 | a0002c0001t0001g0100a0003c0004t0002g0059a0003c0004t0002g0060others(3): Show | 6 | HG01175.hp2 HG02145.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1336-4685dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131974987 | |||||
| chr12:131974987
|
C | CAA | 25 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(22): Show | 25 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(22): Show |
intron_variant | MODIFIER | c.1336-4686_1336-468 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131974987 | |||||
| chr12:131974987
|
C | CAAA | 9 | a0001c0006t0005g0199a0001c0006t0005g0200a0003c0008t0001g0160others(6): Show | 9 | HG01891.hp1 HG02145.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1336-4687_1336-468 others(7): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131974987 | |||||
| chr12:131974987
|
CA | C | 9 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1336-4685delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131974987 | |||||
| chr12:131974987
|
CAA | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-4686_1336-468 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131974987 | |||||
| chr12:131975098
|
G | A | 1 | a0008c0017t0001g0176 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1336-4596G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975098 | ||||||
| chr12:131975163
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1336-4531C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975163 | ||||||
| chr12:131975196
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-4498C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975196 | ||||||
| chr12:131975215
|
C | T | 1 | a0002c0001t0001g0208 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1336-4479C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975215 | ||||||
| chr12:131975219
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-4475C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975219 | ||||||
| chr12:131975380
|
C | T | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1336-4314C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975380 | ||||||
| chr12:131975691
|
CT | C | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1336-4002delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975691 | ||||||
| chr12:131975761
|
G | A | 2 | a0010c0015t0001g0087a0010c0015t0001g0142 | 2 | HG01978.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1336-3933G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131975761 | ||||||
| chr12:131976127
|
A | G | 1 | a0002c0001t0001g0105 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.1336-3567A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976127 | ||||||
| chr12:131976225
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-3469G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976225 | ||||||
| chr12:131976423
|
G | A | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-3271G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976423 | ||||||
| chr12:131976424
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-3270C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976424 | ||||||
| chr12:131976456
|
G | C | 5 | a0004c0005t0001g0138a0004c0005t0001g0146a0004c0005t0001g0147others(2): Show | 5 | HG01071.hp1 HG01106.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336-3238G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976456 | ||||||
| chr12:131976486
|
G | A | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1336-3208G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976486 | ||||||
| chr12:131976624
|
C | T | 1 | a0015c0027t0005g0205 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1336-3070C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976624 | ||||||
| chr12:131976640
|
G | C | 5 | a0001c0046t0001g0159a0003c0008t0001g0162a0003c0008t0001g0166others(2): Show | 5 | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336-3054G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976640 | ||||||
| chr12:131976662
|
A | T | 1 | a0001c0002t0001g0123 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.1336-3032A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976662 | ||||||
| chr12:131976681
|
G | A | 13 | a0001c0069t0002g0061a0003c0004t0002g0053a0003c0004t0002g0058others(10): Show | 13 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1336-3013G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976681 | ||||||
| chr12:131976981
|
C | T | 1 | a0023c0044t0001g0036 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1336-2713C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131976981 | ||||||
| chr12:131977141
|
G | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-2553G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977141 | ||||||
| chr12:131977229
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1336-2465C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977229 | ||||||
| chr12:131977303
|
AT | A | 5 | a0001c0046t0001g0159a0003c0008t0001g0162a0003c0008t0001g0166others(2): Show | 5 | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336-2376delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131977303 | |||||
| chr12:131977319
|
G | A | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-2375G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977319 | ||||||
| chr12:131977336
|
G | A | 2 | a0001c0021t0002g0047a0001c0058t0002g0046 | 2 | HG01934.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.1336-2358G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977336 | ||||||
| chr12:131977375
|
C | T | 1 | a0001c0003t0002g0018 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1336-2319C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977375 | ||||||
| chr12:131977385
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1336-2309G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977385 | ||||||
| chr12:131977412
|
C | T | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1336-2282C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977412 | ||||||
| chr12:131977704
|
C | T | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1336-1990C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977704 | ||||||
| chr12:131977721
|
T | A | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1336-1973T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131977721 | ||||||
| chr12:131978042
|
A | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-1652A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978042 | ||||||
| chr12:131978138
|
T | C | 5 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0121others(2): Show | 5 | HG00408.hp1 HG00558.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336-1556T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978138 | ||||||
| chr12:131978166
|
A | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-1528A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978166 | ||||||
| chr12:131978177
|
C | A | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1336-1517C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978177 | ||||||
| chr12:131978246
|
C | T | 1 | a0001c0003t0002g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1336-1448C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978246 | ||||||
| chr12:131978481
|
T | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1336-1213T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978481 | ||||||
| chr12:131978657
|
C | T | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1336-1037C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978657 | ||||||
| chr12:131978739
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336-955C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978739 | ||||||
| chr12:131978918
|
T | C | 1 | a0004c0005t0001g0035 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1336-776T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978918 | ||||||
| chr12:131978995
|
T | G | 6 | a0001c0002t0001g0089a0001c0002t0001g0107a0001c0002t0001g0149others(3): Show | 6 | HG00735.hp1 HG00738.hp2 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.1336-699T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131978995 | ||||||
| chr12:131979211
|
CA | C | 10 | a0001c0003t0002g0067a0002c0001t0003g0133a0003c0008t0001g0158others(7): Show | 10 | HG00280.hp2 HG02109.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.1336-467delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | 131979211 | |||||
| chr12:131979356
|
C | T | 1 | a0002c0001t0001g0145 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1336-338C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131979356 | ||||||
| chr12:131979589
|
T | C | 2 | a0003c0013t0006g0055a0006c0064t0006g0057 | 2 | HG02970.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1336-105T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131979589 | ||||||
| chr12:131979606
|
C | T | 1 | a0008c0017t0001g0176 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1336-88C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131979606 | ||||||
| chr12:131979679
|
C | T | 1 | a0002c0001t0001g0187 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1336-15C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 2/52 | chr12 | 131979679 | ||||||
| chr12:131979801
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
splice_region_variant&intron_variant | LOW | c.1435+8G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131979801 | ||||||
| chr12:131979805
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1435+12C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131979805 | ||||||
| chr12:131979830
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1435+37C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131979830 | ||||||
| chr12:131979848
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1435+55C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131979848 | ||||||
| chr12:131979861
|
C | T | 1 | a0004c0052t0002g0051 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1435+68C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131979861 | ||||||
| chr12:131980122
|
T | G | 5 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0121others(2): Show | 5 | HG00408.hp1 HG00558.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.1435+329T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980122 | ||||||
| chr12:131980183
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1435+390A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980183 | ||||||
| chr12:131980536
|
T | C | 4 | a0002c0001t0003g0130a0002c0001t0003g0188a0002c0022t0003g0131others(1): Show | 4 | HG02258.hp1 HG02630.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1435+743T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980536 | ||||||
| chr12:131980605
|
G | A | 1 | a0002c0001t0001g0109 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1435+812G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980605 | ||||||
| chr12:131980820
|
G | C | 1 | a0001c0002t0001g0123 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.1436-669G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980820 | ||||||
| chr12:131980842
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1436-647G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980842 | ||||||
| chr12:131980927
|
A | G | 1 | a0003c0013t0001g0141 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1436-562A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980927 | ||||||
| chr12:131980941
|
G | A | 2 | a0003c0013t0001g0141a0005c0061t0002g0071 | 2 | HG02922.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1436-548G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131980941 | ||||||
| chr12:131981101
|
T | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1436-388T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131981101 | ||||||
| chr12:131981236
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1436-253C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131981236 | ||||||
| chr12:131981310
|
C | T | 35 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.1436-179C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3/52 | chr12 | 131981310 | ||||||
| chr12:131981751
|
T | C | 1 | a0004c0005t0001g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1543+155T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 4/52 | chr12 | 131981751 | ||||||
| chr12:131982675
|
G | A | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1929+197G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131982675 | ||||||
| chr12:131982969
|
C | CA | 49 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(46): Show | 49 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(46): Show |
intron_variant | MODIFIER | c.1929+507dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr12 | 131982969 | |||||
| chr12:131982969
|
CA | C | 56 | a0001c0002t0001g0001a0001c0002t0001g0106a0001c0002t0001g0183others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.1929+507delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr12 | 131982969 | |||||
| chr12:131982983
|
A | AT | 10 | a0001c0056t0001g0172a0004c0009t0004g0078a0004c0009t0004g0079others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.1929+505_1929+506i others(3): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131982983 | ||||||
| chr12:131982983
|
A | T | 14 | a0001c0002t0001g0085a0001c0002t0001g0088a0001c0003t0002g0006others(11): Show | 14 | HG00408.hp1 HG01071.hp2 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.1929+505A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131982983 | ||||||
| chr12:131983391
|
G | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1929+913G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983391 | ||||||
| chr12:131983395
|
G | A | 2 | a0001c0003t0002g0004a0001c0003t0002g0008 | 2 | NA19065.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.1929+917G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983395 | ||||||
| chr12:131983544
|
G | A | 9 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(6): Show | 9 | HG02109.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1929+1066G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983544 | ||||||
| chr12:131983770
|
C | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.1929+1292C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983770 | ||||||
| chr12:131983818
|
T | C | 1 | a0001c0003t0002g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1929+1340T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983818 | ||||||
| chr12:131983964
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1929+1486C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131983964 | ||||||
| chr12:131984046
|
A | G | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1929+1568A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984046 | ||||||
| chr12:131984103
|
G | A | 1 | a0001c0018t0005g0203 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1929+1625G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984103 | ||||||
| chr12:131984187
|
C | T | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1929+1709C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984187 | ||||||
| chr12:131984189
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1929+1711C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984189 | ||||||
| chr12:131984437
|
G | A | 5 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0121others(2): Show | 5 | HG00408.hp1 HG00558.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.1929+1959G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984437 | ||||||
| chr12:131984469
|
C | A | 1 | a0001c0036t0002g0042 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1929+1991C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131984469 | ||||||
| chr12:131985015
|
G | GT | 5 | a0001c0066t0001g0073a0003c0047t0001g0070a0008c0017t0001g0168others(2): Show | 5 | HG01243.hp2 HG01934.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.1930-1486dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr12 | 131985015 | |||||
| chr12:131985015
|
GT | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1930-1486delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr12 | 131985015 | |||||
| chr12:131985085
|
A | G | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1930-1429A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985085 | ||||||
| chr12:131985103
|
A | C | 51 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(48): Show | 51 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(48): Show |
intron_variant | MODIFIER | c.1930-1411A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985103 | ||||||
| chr12:131985135
|
C | G | 1 | a0002c0001t0001g0109 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1930-1379C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985135 | ||||||
| chr12:131985151
|
C | A | 1 | a0002c0001t0001g0110 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1930-1363C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985151 | ||||||
| chr12:131985199
|
C | T | 1 | a0003c0008t0001g0160 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1930-1315C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985199 | ||||||
| chr12:131985313
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.1930-1201G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985313 | ||||||
| chr12:131985441
|
CAGAG | C | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1930-1068_1930-106 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr12 | 131985441 | |||||
| chr12:131985622
|
T | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1930-892T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985622 | ||||||
| chr12:131985872
|
T | C | 7 | a0001c0046t0001g0159a0003c0008t0001g0160a0003c0008t0001g0162others(4): Show | 7 | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.1930-642T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985872 | ||||||
| chr12:131985878
|
T | G | 61 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(58): Show | 61 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(58): Show |
intron_variant | MODIFIER | c.1930-636T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985878 | ||||||
| chr12:131985959
|
T | C | 1 | a0002c0001t0001g0184 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1930-555T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131985959 | ||||||
| chr12:131986255
|
T | A | 117 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(114): Show | 117 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(114): Show |
intron_variant | MODIFIER | c.1930-259T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131986255 | ||||||
| chr12:131986423
|
C | T | 9 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(6): Show | 9 | HG02109.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1930-91C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 5/52 | chr12 | 131986423 | ||||||
| chr12:131986952
|
A | AG | 9 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(6): Show | 9 | HG02109.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2223+148dupG | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chr12 | 131986952 | |||||
| chr12:131986987
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2223+180G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/52 | chr12 | 131986987 | ||||||
| chr12:131986998
|
G | A | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2223+191G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/52 | chr12 | 131986998 | ||||||
| chr12:131987068
|
G | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.2223+261G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/52 | chr12 | 131987068 | ||||||
| chr12:131987083
|
G | T | 3 | a0001c0002t0001g0091a0001c0002t0001g0097a0001c0002t0001g0124 | 3 | HG00140.hp1 HG01099.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.2223+276G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 6/52 | chr12 | 131987083 | ||||||
| chr12:131987967
|
G | C | 61 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(58): Show | 61 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(58): Show |
intron_variant | MODIFIER | c.2409+77G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131987967 | ||||||
| chr12:131987983
|
C | CT | 24 | a0001c0002t0001g0089a0001c0002t0001g0140a0001c0003t0002g0002others(21): Show | 24 | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.2409+118dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | INFO_REALIGN_3_PRIME | chr12 | 131987983 | |||||
| chr12:131987983
|
CT | C | 6 | a0001c0002t0001g0123a0001c0003t0002g0067a0004c0023t0001g0151others(3): Show | 6 | HG01891.hp2 HG02257.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.2409+118delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | INFO_REALIGN_3_PRIME | chr12 | 131987983 | |||||
| chr12:131987983
|
CTTTTTTT others(6): Show |
C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2409+106_2409+118d others(15): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | INFO_REALIGN_3_PRIME | chr12 | 131987983 | |||||
| chr12:131988008
|
T | C | 8 | a0001c0006t0005g0199a0001c0006t0005g0200a0006c0053t0002g0029others(5): Show | 8 | HG02615.hp1 HG02647.hp2 HG03540.hp1 others(5): Show |
intron_variant | MODIFIER | c.2409+118T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988008 | ||||||
| chr12:131988008
|
T | TC | 22 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(19): Show | 22 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(19): Show |
intron_variant | MODIFIER | c.2409+123dupC | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | INFO_REALIGN_3_PRIME | chr12 | 131988008 | |||||
| chr12:131988008
|
T | TTC | 5 | a0003c0008t0001g0194a0003c0008t0011g0167a0004c0014t0007g0165others(2): Show | 5 | HG01891.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2409+118_2409+119i others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988008 | ||||||
| chr12:131988118
|
C | T | 9 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(6): Show | 9 | HG02109.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2409+228C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988118 | ||||||
| chr12:131988234
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2409+344A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988234 | ||||||
| chr12:131988257
|
C | T | 5 | a0006c0053t0002g0029a0007c0012t0001g0031a0007c0012t0001g0032others(2): Show | 5 | HG02615.hp1 HG02647.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.2409+367C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988257 | ||||||
| chr12:131988289
|
G | A | 1 | a0001c0002t0001g0149 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2409+399G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988289 | ||||||
| chr12:131988827
|
C | G | 120 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(117): Show | 120 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(117): Show |
intron_variant | MODIFIER | c.2409+937C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988827 | ||||||
| chr12:131988846
|
A | G | 41 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(38): Show | 41 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(38): Show |
intron_variant | MODIFIER | c.2409+956A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131988846 | ||||||
| chr12:131989334
|
C | T | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG02056.hp2 HG02257.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.2410-630C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131989334 | ||||||
| chr12:131989441
|
A | G | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2410-523A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131989441 | ||||||
| chr12:131989750
|
A | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2410-214A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 7/52 | chr12 | 131989750 | ||||||
| chr12:131990169
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2550+65C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990169 | ||||||
| chr12:131990182
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2550+78C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990182 | ||||||
| chr12:131990296
|
A | G | 45 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(42): Show | 45 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(42): Show |
intron_variant | MODIFIER | c.2550+192A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990296 | ||||||
| chr12:131990317
|
G | C | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2550+213G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990317 | ||||||
| chr12:131990342
|
G | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2550+238G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990342 | ||||||
| chr12:131990367
|
A | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.2550+263A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990367 | ||||||
| chr12:131990375
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2551-261C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 8/52 | chr12 | 131990375 | ||||||
| chr12:131990968
|
C | CAGTG | 2 | a0001c0003t0002g0020a0002c0062t0001g0012 | 2 | HG00597.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.2629+261_2629+264d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr12 | 131990968 | |||||
| chr12:131991073
|
G | A | 1 | a0002c0001t0001g0037 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2630-334G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 9/52 | chr12 | 131991073 | ||||||
| chr12:131991292
|
C | T | 2 | a0003c0013t0001g0141a0005c0061t0002g0071 | 2 | HG02922.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2630-115C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 9/52 | chr12 | 131991292 | ||||||
| chr12:131991559
|
A | G | 1 | a0004c0005t0001g0138 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2679+103A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | chr12 | 131991559 | ||||||
| chr12:131991576
|
C | CT | 45 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(42): Show | 45 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(42): Show |
intron_variant | MODIFIER | c.2679+136dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chr12 | 131991576 | |||||
| chr12:131991580
|
T | TTC | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.2679+125_2679+126i others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chr12 | 131991580 | |||||
| chr12:131991725
|
C | T | 9 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(6): Show | 9 | HG02109.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2679+269C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | chr12 | 131991725 | ||||||
| chr12:131991747
|
A | AT | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG02056.hp2 HG02735.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2679+303dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chr12 | 131991747 | |||||
| chr12:131992159
|
T | C | 2 | a0002c0001t0001g0082a0002c0001t0001g0083 | 2 | NA19084.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.2680-14T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 10/52 | chr12 | 131992159 | ||||||
| chr12:131992409
|
G | A | 1 | a0001c0002t0001g0123 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.2737+179G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131992409 | ||||||
| chr12:131992645
|
A | G | 1 | a0001c0003t0002g0020 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2737+415A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131992645 | ||||||
| chr12:131992671
|
G | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2737+441G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131992671 | ||||||
| chr12:131992735
|
C | T | 199 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(196): Show | 199 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.2737+505C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131992735 | ||||||
| chr12:131993000
|
C | T | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2737+770C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131993000 | ||||||
| chr12:131993157
|
G | T | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2737+927G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131993157 | ||||||
| chr12:131993208
|
A | G | 49 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(46): Show | 49 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.2737+978A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131993208 | ||||||
| chr12:131993573
|
A | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2738-1294A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131993573 | ||||||
| chr12:131993721
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2738-1146C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131993721 | ||||||
| chr12:131994093
|
G | A | 1 | a0002c0001t0001g0037 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2738-774G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 11/52 | chr12 | 131994093 | ||||||
| chr12:131995021
|
G | T | 1 | a0002c0022t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2827+65G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995021 | ||||||
| chr12:131995079
|
C | T | 1 | a0003c0008t0001g0160 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2827+123C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995079 | ||||||
| chr12:131995157
|
CTG | C | 2 | a0003c0016t0001g0101a0003c0016t0001g0181 | 2 | HG01175.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2827+203_2827+204d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995157 | |||||
| chr12:131995163
|
T | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2827+207T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995163 | ||||||
| chr12:131995265
|
G | A | 1 | a0013c0019t0001g0186 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2827+309G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995265 | ||||||
| chr12:131995272
|
C | CTGAGTGT others(57): Show |
2 | a0003c0004t0002g0066a0003c0004t0002g0076 | 2 | HG02572.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2827+337_2827+400d others(66): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995272 | |||||
| chr12:131995400
|
CTGAG | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+447_2827+450d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995400 | |||||
| chr12:131995494
|
C | CCCACCAC others(182): Show |
1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2827+603_2827+604i others(191): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995494 | |||||
| chr12:131995527
|
T | C | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2827+571T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995527 | ||||||
| chr12:131995547
|
T | C | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2827+591T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995547 | ||||||
| chr12:131995581
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2827+625A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995581 | ||||||
| chr12:131995581
|
ACCGTTCA others(56): Show |
A | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2827+718_2827+780d others(65): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995581 | |||||
| chr12:131995591
|
C | T | 2 | a0001c0006t0001g0178a0003c0047t0001g0070 | 2 | HG01123.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2827+635C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995591 | ||||||
| chr12:131995611
|
C | T | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+655C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995611 | ||||||
| chr12:131995613
|
TGAATGAA others(247): Show |
T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2827+661_2827+914d others(2): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995613 | |||||
| chr12:131995621
|
T | A | 1 | a0002c0001t0001g0208 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2827+665T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995621 | ||||||
| chr12:131995644
|
G | A | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+688G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995644 | ||||||
| chr12:131995654
|
C | G | 48 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(45): Show | 48 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.2827+698C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995654 | ||||||
| chr12:131995676
|
TGAATGAA others(184): Show |
T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2827+724_2827+914d others(2): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995676 | |||||
| chr12:131995680
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+724T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995680 | ||||||
| chr12:131995707
|
G | GCCGTTCA others(57): Show |
1 | a0001c0002t0001g0034 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.2827+761_2827+824d others(66): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995707 | |||||
| chr12:131995717
|
CTGAGTGT others(57): Show |
C | 35 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | HG01081.hp2 HG01099.hp2 HG01167.hp2 others(32): Show |
intron_variant | MODIFIER | c.2827+798_2827+861d others(66): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995717 | |||||
| chr12:131995737
|
T | C | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+781T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995737 | ||||||
| chr12:131995743
|
C | T | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+787C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995743 | ||||||
| chr12:131995771
|
A | G | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+815A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995771 | ||||||
| chr12:131995773
|
C | A | 1 | a0001c0018t0001g0204 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.2827+817C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995773 | ||||||
| chr12:131995773
|
C | G | 4 | a0002c0001t0001g0208a0002c0073t0010g0207a0010c0015t0001g0087others(1): Show | 4 | HG01071.hp2 HG01261.hp1 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.2827+817C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995773 | ||||||
| chr12:131995781
|
T | C | 1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+825T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995781 | ||||||
| chr12:131995801
|
T | C | 1 | a0001c0057t0012g0171 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2827+845T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995801 | ||||||
| chr12:131995835
|
GCCGTTCA others(57): Show |
G | 2 | a0002c0073t0010g0207a0027c0031t0001g0072 | 2 | HG01261.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.2827+986_2827+1049 others(67): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131995835 | |||||
| chr12:131995899
|
A | G | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG01074.hp2 HG02056.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.2827+943A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995899 | ||||||
| chr12:131995924
|
C | A | 1 | a0003c0013t0006g0054 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2827+968C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131995924 | ||||||
| chr12:131996031
|
T | C | 2 | a0001c0021t0002g0047a0001c0058t0002g0046 | 2 | HG01934.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.2827+1075T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996031 | ||||||
| chr12:131996044
|
G | T | 1 | a0002c0022t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2827+1088G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996044 | ||||||
| chr12:131996054
|
G | C | 1 | a0002c0001t0003g0130 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2827+1098G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996054 | ||||||
| chr12:131996131
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+1175T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996131 | ||||||
| chr12:131996295
|
C | CTTTTTT | 11 | a0001c0006t0001g0196a0004c0009t0004g0078a0004c0009t0004g0079others(8): Show | 11 | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
intron_variant | MODIFIER | c.2827+1350_2827+135 others(10): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131996295 | |||||
| chr12:131996295
|
C | CTTTTTTT | 41 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(38): Show | 41 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(38): Show |
intron_variant | MODIFIER | c.2827+1349_2827+135 others(11): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131996295 | |||||
| chr12:131996295
|
C | CTTTTTTT others(3): Show |
5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+1346_2827+135 others(14): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131996295 | |||||
| chr12:131996353
|
G | A | 1 | a0002c0001t0005g0015 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2827+1397G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996353 | ||||||
| chr12:131996390
|
T | C | 52 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(49): Show | 52 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(49): Show |
intron_variant | MODIFIER | c.2827+1434T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996390 | ||||||
| chr12:131996629
|
A | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2827+1673A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996629 | ||||||
| chr12:131996632
|
T | C | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2827+1676T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996632 | ||||||
| chr12:131996651
|
T | TTTAATTG others(47): Show |
1 | a0005c0065t0001g0068 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2827+1697_2827+175 others(58): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131996651 | |||||
| chr12:131996729
|
C | T | 61 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(58): Show | 61 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(58): Show |
intron_variant | MODIFIER | c.2827+1773C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996729 | ||||||
| chr12:131996996
|
A | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2827+2040A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131996996 | ||||||
| chr12:131997061
|
A | G | 1 | a0002c0001t0001g0190 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2827+2105A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131997061 | ||||||
| chr12:131997719
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2827+2763G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131997719 | ||||||
| chr12:131997742
|
G | A | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2827+2786G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131997742 | ||||||
| chr12:131997746
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+2790G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131997746 | ||||||
| chr12:131997751
|
G | A | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2827+2795G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131997751 | ||||||
| chr12:131998064
|
T | A | 2 | a0001c0003t0002g0004a0001c0003t0002g0008 | 2 | NA19065.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.2827+3108T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998064 | ||||||
| chr12:131998176
|
T | A | 1 | a0028c0072t0001g0161 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2827+3220T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998176 | ||||||
| chr12:131998194
|
A | G | 1 | a0001c0002t0001g0107 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2827+3238A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998194 | ||||||
| chr12:131998415
|
T | C | 1 | a0017c0028t0004g0155 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2827+3459T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998415 | ||||||
| chr12:131998624
|
CTGTT | C | 3 | a0001c0066t0001g0073a0002c0001t0001g0111a0002c0001t0001g0117 | 3 | HG01243.hp2 NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2827+3673_2827+367 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998624 | |||||
| chr12:131998636
|
T | TCTTTGTA others(535): Show |
1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2827+3718_2827+371 others(546): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(130): Show |
1 | a0001c0018t0005g0203 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2827+3745_2827+374 others(141): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(101): Show |
2 | a0003c0004t0002g0050a0005c0065t0001g0068 | 2 | HG02886.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2827+3842_2827+394 others(112): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(155): Show |
11 | a0003c0004t0002g0053a0003c0004t0002g0058a0003c0004t0002g0059others(8): Show | 11 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.2827+3788_2827+394 others(166): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(182): Show |
7 | a0002c0001t0008g0045a0002c0063t0002g0048a0003c0004t0002g0062others(4): Show | 7 | HG01884.hp2 HG02717.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2827+3761_2827+394 others(193): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(209): Show |
4 | a0001c0069t0002g0061a0002c0001t0003g0133a0005c0007t0003g0134others(1): Show | 4 | HG02109.hp2 HG03130.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.2827+3734_2827+394 others(220): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(236): Show |
2 | a0001c0003t0002g0002a0002c0045t0002g0192 | 2 | HG00438.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2827+3707_2827+394 others(247): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(263): Show |
4 | a0001c0003t0002g0006a0001c0003t0002g0014a0001c0059t0002g0052others(1): Show | 4 | HG02965.hp2 NA18949.hp1 NA18960.hp2 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(274): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(290): Show |
11 | a0001c0003t0002g0004a0001c0003t0002g0008a0001c0003t0002g0010others(8): Show | 11 | HG00597.hp2 HG02080.hp1 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(301): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(317): Show |
4 | a0001c0003t0002g0003a0001c0003t0002g0009a0001c0003t0002g0013others(1): Show | 4 | HG00280.hp1 NA18941.hp2 NA18954.hp2 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(328): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(344): Show |
1 | a0001c0003t0002g0018 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(355): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(371): Show |
2 | a0001c0003t0002g0104a0024c0033t0001g0074 | 2 | NA18956.hp2 NA18957.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(382): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(398): Show |
2 | a0001c0003t0002g0067a0001c0003t0014g0007 | 2 | HG02896.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(409): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(425): Show |
3 | a0002c0001t0003g0130a0012c0037t0001g0095a0018c0038t0001g0096 | 3 | HG00280.hp2 HG02630.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(436): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(452): Show |
1 | a0002c0001t0001g0185 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(463): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(479): Show |
6 | a0001c0002t0001g0140a0001c0021t0002g0047a0001c0058t0002g0046others(3): Show | 6 | HG01934.hp2 HG01978.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(490): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(506): Show |
2 | a0002c0001t0001g0105a0002c0001t0003g0188 | 2 | HG03195.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(517): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(533): Show |
1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(544): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(560): Show |
3 | a0002c0001t0001g0110a0002c0001t0001g0119a0002c0001t0001g0143 | 3 | HG02080.hp2 NA18954.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(571): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(587): Show |
4 | a0001c0002t0001g0001a0002c0001t0001g0100a0002c0001t0005g0015others(1): Show | 4 | HG01978.hp2 NA18949.hp2 NA18956.hp1 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(598): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(614): Show |
5 | a0001c0002t0001g0189a0002c0001t0001g0187a0002c0022t0001g0116others(2): Show | 5 | HG00738.hp1 HG01433.hp1 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(625): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(641): Show |
5 | a0002c0001t0001g0037a0002c0001t0001g0038a0002c0001t0001g0121others(2): Show | 5 | HG00408.hp1 HG00558.hp1 HG01123.hp1 others(2): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(652): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(668): Show |
2 | a0002c0001t0001g0039a0002c0001t0001g0086 | 2 | HG01192.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(679): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(695): Show |
6 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0184others(3): Show | 6 | HG00735.hp2 HG01071.hp2 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(706): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(722): Show |
9 | a0001c0002t0001g0118a0001c0066t0001g0073a0002c0001t0001g0111others(6): Show | 9 | HG00558.hp2 HG01243.hp2 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(733): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(749): Show |
5 | a0001c0002t0001g0085a0001c0039t0001g0084a0002c0001t0001g0108others(2): Show | 5 | HG00642.hp1 HG03209.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(760): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(776): Show |
5 | a0001c0002t0001g0098a0002c0001t0001g0126a0002c0040t0001g0102others(2): Show | 5 | HG00140.hp2 HG00597.hp1 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(787): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(803): Show |
6 | a0002c0001t0001g0083a0002c0001t0001g0190a0003c0016t0001g0181others(3): Show | 6 | HG00642.hp2 HG01074.hp1 HG01074.hp2 others(3): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(814): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(830): Show |
4 | a0001c0002t0001g0088a0001c0036t0002g0042a0002c0001t0001g0103others(1): Show | 4 | HG01981.hp1 HG01981.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(841): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(857): Show |
2 | a0001c0002t0001g0099a0002c0001t0001g0082 | 2 | NA19080.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(868): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(911): Show |
1 | a0001c0002t0001g0112 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(922): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(884): Show |
4 | a0001c0002t0001g0093a0001c0002t0001g0114a0001c0002t0001g0123others(1): Show | 4 | HG01169.hp1 HG04204.hp2 NA18941.hp1 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(895): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(911): Show |
2 | a0004c0005t0001g0146a0004c0005t0001g0191 | 2 | HG01071.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(922): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(938): Show |
2 | a0001c0002t0001g0179a0002c0001t0001g0113 | 2 | HG01952.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(949): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(992): Show |
1 | a0001c0002t0001g0025 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1003): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(1019): Show |
1 | a0004c0005t0001g0138 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1030): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(290): Show |
1 | a0001c0003t0002g0011 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2827+3976_2827+397 others(301): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998636
|
T | TCTTTGTA others(317): Show |
1 | a0014c0032t0002g0022 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2827+3868_2827+386 others(328): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998636 | |||||
| chr12:131998646
|
C | CAGTCTTG others(76): Show |
1 | a0001c0018t0001g0204 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.2827+3745_2827+374 others(87): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998646 | |||||
| chr12:131998673
|
C | CAGTCTTG others(49): Show |
3 | a0001c0025t0001g0202a0001c0026t0002g0201a0015c0027t0005g0205 | 3 | HG02735.hp1 HG03654.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.2827+3745_2827+374 others(60): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998673 | |||||
| chr12:131998690
|
A | ACTTTGTA others(857): Show |
1 | a0022c0043t0001g0115 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(868): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998690 | |||||
| chr12:131998744
|
A | ACTTTGTA others(1154): Show |
1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1165): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998744 | |||||
| chr12:131998785
|
C | CTTGTATA others(236): Show |
1 | a0005c0007t0002g0193 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(247): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998785 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1694): Show |
1 | a0006c0010t0004g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1705): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1397): Show |
1 | a0006c0024t0013g0152 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1408): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1154): Show |
1 | a0004c0009t0004g0079 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1165): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1127): Show |
1 | a0001c0006t0001g0173 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1138): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1235): Show |
1 | a0017c0028t0004g0155 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1246): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1100): Show |
1 | a0004c0009t0004g0078 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1111): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(965): Show |
1 | a0001c0021t0006g0056 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(976): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(992): Show |
1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1003): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1100): Show |
1 | a0004c0009t0004g0156 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1111): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(911): Show |
1 | a0001c0002t0001g0034 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(922): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1019): Show |
2 | a0006c0010t0004g0150a0006c0010t0004g0157 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(1030): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(884): Show |
1 | a0002c0001t0001g0125 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(895): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(1019): Show |
1 | a0004c0009t0004g0153 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(1030): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(857): Show |
7 | a0001c0002t0001g0091a0001c0002t0001g0097a0001c0002t0001g0149others(4): Show | 7 | HG01099.hp1 HG01192.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(868): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(830): Show |
1 | a0001c0002t0001g0124 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(841): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(776): Show |
2 | a0002c0001t0001g0109a0004c0005t0001g0180 | 2 | HG00735.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(787): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(749): Show |
4 | a0001c0002t0001g0089a0002c0001t0001g0092a0002c0001t0001g0132others(1): Show | 4 | HG00438.hp1 HG03453.hp1 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(760): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(722): Show |
1 | a0001c0002t0001g0107 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(733): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(722): Show |
1 | a0001c0006t0001g0178 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(733): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(668): Show |
1 | a0004c0051t0001g0174 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(679): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(641): Show |
2 | a0001c0006t0001g0175a0028c0072t0001g0161 | 2 | HG01433.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(652): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(587): Show |
1 | a0004c0014t0007g0163 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(598): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(614): Show |
3 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0196 | 3 | HG01167.hp2 HG01261.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(625): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(560): Show |
1 | a0004c0014t0007g0165 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(571): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(587): Show |
1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(598): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(533): Show |
1 | a0004c0014t0007g0164 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(544): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(452): Show |
2 | a0003c0008t0001g0158a0003c0008t0011g0167 | 2 | HG02145.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(463): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(479): Show |
1 | a0003c0008t0001g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(490): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(506): Show |
1 | a0001c0057t0012g0171 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(517): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(425): Show |
2 | a0003c0008t0001g0162a0003c0008t0001g0194 | 2 | HG02451.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(436): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(452): Show |
1 | a0001c0046t0001g0159 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(463): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(371): Show |
1 | a0007c0012t0001g0030 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(382): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(425): Show |
2 | a0003c0008t0001g0160a0019c0049t0001g0198 | 2 | HG02738.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(436): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(425): Show |
1 | a0011c0020t0002g0028 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(436): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(344): Show |
2 | a0007c0012t0001g0031a0007c0012t0001g0032 | 2 | HG02615.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(355): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(371): Show |
1 | a0012c0054t0001g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(382): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(317): Show |
3 | a0005c0061t0002g0071a0006c0053t0002g0029a0007c0055t0001g0033 | 3 | HG02922.hp1 HG03540.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(328): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(398): Show |
1 | a0025c0070t0001g0197 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(409): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(371): Show |
1 | a0001c0006t0005g0200 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(382): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(317): Show |
1 | a0008c0050t0001g0177 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(328): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(344): Show |
1 | a0001c0006t0005g0199 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(355): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(371): Show |
1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(382): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(533): Show |
1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2827+3949_2827+395 others(544): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(290): Show |
2 | a0008c0017t0001g0168a0008c0017t0001g0176 | 2 | HG02451.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.2827+3949_2827+395 others(301): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998879
|
A | ACTTTGTA others(101): Show |
1 | a0011c0020t0002g0027 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2827+3987_2827+398 others(112): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131998879 | |||||
| chr12:131998906
|
T | A | 23 | a0001c0002t0001g0085a0001c0002t0001g0099a0001c0018t0001g0204others(20): Show | 23 | HG00558.hp1 HG01243.hp2 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.2827+3950T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998906 | ||||||
| chr12:131998933
|
T | A | 8 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(5): Show | 8 | HG01243.hp2 HG01884.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.2827+3977T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998933 | ||||||
| chr12:131998966
|
A | G | 2 | a0001c0002t0001g0091a0001c0002t0001g0097 | 2 | HG01099.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.2827+4010A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131998966 | ||||||
| chr12:131999084
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+4128A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999084 | ||||||
| chr12:131999288
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+4332G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999288 | ||||||
| chr12:131999494
|
A | G | 1 | a0002c0001t0001g0109 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2827+4538A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999494 | ||||||
| chr12:131999579
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+4623T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999579 | ||||||
| chr12:131999587
|
A | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2827+4631A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999587 | ||||||
| chr12:131999639
|
G | A | 1 | a0001c0002t0001g0189 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2827+4683G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999639 | ||||||
| chr12:131999961
|
T | G | 1 | a0002c0001t0001g0184 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2827+5005T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 131999961 | ||||||
| chr12:131999979
|
CT | C | 15 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(12): Show | 15 | HG00408.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2827+5038delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 131999979 | |||||
| chr12:132000036
|
G | T | 16 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.2828-5041G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000036 | ||||||
| chr12:132000258
|
A | G | 33 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(30): Show | 33 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(30): Show |
intron_variant | MODIFIER | c.2828-4819A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000258 | ||||||
| chr12:132000373
|
A | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2828-4704A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000373 | ||||||
| chr12:132000723
|
C | G | 35 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.2828-4354C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000723 | ||||||
| chr12:132000734
|
A | G | 1 | a0001c0002t0001g0124 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2828-4343A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000734 | ||||||
| chr12:132000801
|
T | A | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2828-4276T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000801 | ||||||
| chr12:132000840
|
A | G | 1 | a0002c0001t0001g0184 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2828-4237A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000840 | ||||||
| chr12:132000882
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2828-4195T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132000882 | ||||||
| chr12:132001536
|
T | C | 16 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.2828-3541T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001536 | ||||||
| chr12:132001577
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2828-3500G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001577 | ||||||
| chr12:132001619
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2828-3458C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001619 | ||||||
| chr12:132001625
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2828-3452C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001625 | ||||||
| chr12:132001694
|
G | A | 1 | a0004c0051t0001g0174 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2828-3383G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001694 | ||||||
| chr12:132001900
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2828-3177C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132001900 | ||||||
| chr12:132002275
|
A | C | 5 | a0001c0046t0001g0159a0003c0008t0001g0162a0003c0008t0001g0166others(2): Show | 5 | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2828-2802A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002275 | ||||||
| chr12:132002353
|
T | A | 5 | a0001c0002t0001g0089a0001c0002t0001g0107a0001c0002t0001g0149others(2): Show | 5 | HG00735.hp1 HG00738.hp2 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.2828-2724T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002353 | ||||||
| chr12:132002460
|
A | ACT | 52 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(49): Show | 52 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(49): Show |
intron_variant | MODIFIER | c.2828-2614_2828-261 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 132002460 | |||||
| chr12:132002597
|
G | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.2828-2480G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002597 | ||||||
| chr12:132002838
|
C | T | 1 | a0003c0008t0001g0158 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2828-2239C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002838 | ||||||
| chr12:132002850
|
A | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2828-2227A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002850 | ||||||
| chr12:132002865
|
C | T | 1 | a0003c0008t0001g0158 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2828-2212C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132002865 | ||||||
| chr12:132003134
|
C | CA | 57 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(54): Show | 57 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(54): Show |
intron_variant | MODIFIER | c.2828-1943_2828-194 others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003134 | ||||||
| chr12:132003174
|
C | T | 7 | a0001c0006t0005g0199a0001c0006t0005g0200a0008c0017t0001g0168others(4): Show | 7 | HG01934.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.2828-1903C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003174 | ||||||
| chr12:132003192
|
T | TA | 6 | a0001c0002t0001g0089a0001c0002t0001g0149a0001c0002t0001g0183others(3): Show | 6 | HG00735.hp1 HG02698.hp2 HG03491.hp2 others(3): Show |
intron_variant | MODIFIER | c.2828-1871dupA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | 132003192 | |||||
| chr12:132003199
|
A | G | 1 | a0001c0003t0002g0024 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2828-1878A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003199 | ||||||
| chr12:132003293
|
A | G | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2828-1784A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003293 | ||||||
| chr12:132003776
|
C | T | 1 | a0021c0042t0001g0144 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2828-1301C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003776 | ||||||
| chr12:132003824
|
A | C | 1 | a0001c0021t0002g0047 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2828-1253A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132003824 | ||||||
| chr12:132004002
|
TAAAGGGT others(16): Show |
T | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.2828-1074_2828-105 others(27): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004002 | ||||||
| chr12:132004219
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2828-858C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004219 | ||||||
| chr12:132004279
|
G | A | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2828-798G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004279 | ||||||
| chr12:132004497
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2828-580A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004497 | ||||||
| chr12:132004721
|
G | A | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2828-356G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004721 | ||||||
| chr12:132004780
|
C | G | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2828-297C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132004780 | ||||||
| chr12:132005059
|
G | A | 1 | a0023c0044t0001g0036 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2828-18G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | chr12 | 132005059 | ||||||
| chr12:132005383
|
G | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2935+199G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 13/52 | chr12 | 132005383 | ||||||
| chr12:132005401
|
A | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.2935+217A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 13/52 | chr12 | 132005401 | ||||||
| chr12:132005752
|
T | C | 1 | a0002c0001t0001g0190 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2936-360T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 13/52 | chr12 | 132005752 | ||||||
| chr12:132006324
|
T | C | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.3126+22T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 14/52 | chr12 | 132006324 | ||||||
| chr12:132006587
|
A | G | 1 | a0001c0057t0012g0171 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.3127-113A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 14/52 | chr12 | 132006587 | ||||||
| chr12:132006985
|
C | T | 1 | a0001c0003t0002g0013 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.3304+108C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132006985 | ||||||
| chr12:132007001
|
T | C | 1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.3304+124T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007001 | ||||||
| chr12:132007056
|
A | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+179A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007056 | ||||||
| chr12:132007074
|
C | T | 1 | a0002c0001t0001g0143 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.3304+197C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007074 | ||||||
| chr12:132007080
|
G | A | 1 | a0002c0001t0001g0109 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3304+203G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007080 | ||||||
| chr12:132007100
|
A | C | 1 | a0002c0001t0001g0132 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.3304+223A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007100 | ||||||
| chr12:132007335
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+458A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007335 | ||||||
| chr12:132007490
|
T | G | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3304+613T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007490 | ||||||
| chr12:132007607
|
C | T | 7 | a0001c0006t0005g0199a0001c0006t0005g0200a0008c0017t0001g0168others(4): Show | 7 | HG01934.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.3304+730C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007607 | ||||||
| chr12:132007709
|
G | C | 2 | a0010c0015t0001g0087a0010c0015t0001g0142 | 2 | HG01978.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3304+832G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007709 | ||||||
| chr12:132007948
|
G | C | 1 | a0002c0001t0001g0086 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3304+1071G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132007948 | ||||||
| chr12:132007953
|
CT | C | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.3304+1087delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132007953 | |||||
| chr12:132008129
|
G | A | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.3304+1252G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008129 | ||||||
| chr12:132008135
|
A | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3304+1258A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008135 | ||||||
| chr12:132008262
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+1385A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008262 | ||||||
| chr12:132008278
|
G | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3304+1401G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008278 | ||||||
| chr12:132008554
|
C | T | 1 | a0019c0049t0001g0198 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.3304+1677C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008554 | ||||||
| chr12:132008578
|
C | T | 1 | a0001c0018t0001g0204 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.3304+1701C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008578 | ||||||
| chr12:132008584
|
A | AT | 14 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(11): Show | 14 | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(11): Show |
intron_variant | MODIFIER | c.3304+1721dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132008584 | |||||
| chr12:132008776
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+1899C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008776 | ||||||
| chr12:132008802
|
T | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+1925T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008802 | ||||||
| chr12:132008887
|
T | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3304+2010T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008887 | ||||||
| chr12:132008899
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+2022C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008899 | ||||||
| chr12:132008909
|
C | T | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.3304+2032C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008909 | ||||||
| chr12:132008919
|
C | CT | 30 | a0001c0002t0001g0085a0001c0002t0001g0088a0001c0002t0001g0089others(27): Show | 30 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(27): Show |
intron_variant | MODIFIER | c.3304+2065dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132008919 | |||||
| chr12:132008919
|
C | CTTTT | 6 | a0001c0018t0005g0203a0002c0001t0003g0133a0005c0007t0003g0134others(3): Show | 6 | HG02056.hp2 HG02109.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.3304+2062_3304+206 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132008919 | |||||
| chr12:132008919
|
CT | C | 5 | a0002c0001t0001g0122a0002c0041t0001g0120a0004c0023t0001g0151others(2): Show | 5 | HG00558.hp1 HG00558.hp2 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.3304+2065delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132008919 | |||||
| chr12:132008932
|
T | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.3304+2055T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132008932 | ||||||
| chr12:132009009
|
G | A | 1 | a0003c0004t0002g0053 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3304+2132G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009009 | ||||||
| chr12:132009130
|
G | A | 4 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165others(1): Show | 4 | HG01884.hp2 HG01891.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.3304+2253G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009130 | ||||||
| chr12:132009244
|
A | G | 1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3305-2254A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009244 | ||||||
| chr12:132009290
|
G | A | 1 | a0004c0009t0004g0156 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3305-2208G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009290 | ||||||
| chr12:132009453
|
G | A | 1 | a0002c0068t0001g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3305-2045G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009453 | ||||||
| chr12:132009493
|
G | C | 24 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(21): Show | 24 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(21): Show |
intron_variant | MODIFIER | c.3305-2005G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009493 | ||||||
| chr12:132009673
|
C | T | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.3305-1825C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009673 | ||||||
| chr12:132009748
|
C | T | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.3305-1750C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009748 | ||||||
| chr12:132009830
|
A | AT | 54 | a0001c0002t0001g0001a0001c0002t0001g0088a0001c0002t0001g0099others(51): Show | 54 | HG01081.hp2 HG01099.hp2 HG01106.hp1 others(51): Show |
intron_variant | MODIFIER | c.3305-1643dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132009830 | |||||
| chr12:132009830
|
A | ATT | 34 | a0001c0003t0002g0003a0001c0003t0002g0018a0001c0003t0002g0021others(31): Show | 34 | HG00280.hp1 HG01167.hp1 HG01175.hp1 others(31): Show |
intron_variant | MODIFIER | c.3305-1644_3305-164 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132009830 | |||||
| chr12:132009830
|
A | ATTT | 22 | a0001c0003t0002g0002a0001c0003t0002g0004a0001c0003t0002g0006others(19): Show | 22 | HG00438.hp2 HG00597.hp2 HG01934.hp2 others(19): Show |
intron_variant | MODIFIER | c.3305-1645_3305-164 others(7): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132009830 | |||||
| chr12:132009969
|
C | T | 8 | a0006c0053t0002g0029a0007c0012t0001g0030a0007c0012t0001g0031others(5): Show | 8 | HG02615.hp1 HG02647.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.3305-1529C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132009969 | ||||||
| chr12:132010085
|
C | CT | 8 | a0001c0003t0002g0011a0001c0003t0002g0021a0001c0018t0001g0204others(5): Show | 8 | HG02056.hp2 HG02572.hp1 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.3305-1397dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chr12 | 132010085 | |||||
| chr12:132010147
|
G | C | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3305-1351G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132010147 | ||||||
| chr12:132010434
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3305-1064G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132010434 | ||||||
| chr12:132010660
|
C | T | 53 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(50): Show | 53 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.3305-838C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132010660 | ||||||
| chr12:132010947
|
A | C | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3305-551A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132010947 | ||||||
| chr12:132011079
|
G | A | 1 | a0001c0006t0001g0196 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3305-419G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 15/52 | chr12 | 132011079 | ||||||
| chr12:132011844
|
C | CGCA | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.3441+212_3441+214d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | 132011844 | |||||
| chr12:132011952
|
C | CT | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3441+319dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | 132011952 | |||||
| chr12:132012303
|
C | G | 1 | a0001c0002t0001g0114 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3441+669C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012303 | ||||||
| chr12:132012345
|
G | A | 1 | a0001c0018t0005g0203 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.3442-664G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012345 | ||||||
| chr12:132012378
|
G | T | 1 | a0004c0005t0001g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3442-631G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012378 | ||||||
| chr12:132012620
|
G | A | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.3442-389G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012620 | ||||||
| chr12:132012859
|
G | A | 1 | a0004c0005t0001g0147 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3442-150G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012859 | ||||||
| chr12:132012887
|
A | G | 1 | a0002c0001t0003g0188 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3442-122A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | chr12 | 132012887 | ||||||
| chr12:132012993
|
CCT | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3442-11_3442-10del others(2): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | 132012993 | |||||
| chr12:132013194
|
G | T | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3611+16G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 17/52 | chr12 | 132013194 | ||||||
| chr12:132013448
|
G | A | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3612-42G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 17/52 | chr12 | 132013448 | ||||||
| chr12:132013715
|
T | C | 112 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(109): Show | 112 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(109): Show |
intron_variant | MODIFIER | c.3786+51T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 18/52 | chr12 | 132013715 | ||||||
| chr12:132014036
|
C | A | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3923+123C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014036 | ||||||
| chr12:132014037
|
G | A | 2 | a0012c0037t0001g0095a0018c0038t0001g0096 | 2 | HG00280.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3923+124G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014037 | ||||||
| chr12:132014237
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3923+324T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014237 | ||||||
| chr12:132014365
|
C | T | 1 | a0006c0010t0004g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.3923+452C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014365 | ||||||
| chr12:132014413
|
G | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3923+500G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014413 | ||||||
| chr12:132014448
|
T | C | 106 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(103): Show | 106 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.3923+535T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132014448 | ||||||
| chr12:132015122
|
C | T | 1 | a0001c0003t0002g0018 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.3923+1209C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015122 | ||||||
| chr12:132015149
|
A | G | 1 | a0002c0001t0001g0190 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3923+1236A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015149 | ||||||
| chr12:132015222
|
C | T | 9 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.3923+1309C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015222 | ||||||
| chr12:132015234
|
A | G | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3923+1321A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015234 | ||||||
| chr12:132015314
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3923+1401T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015314 | ||||||
| chr12:132015577
|
G | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3923+1664G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015577 | ||||||
| chr12:132015760
|
T | C | 13 | a0001c0069t0002g0061a0003c0004t0002g0053a0003c0004t0002g0058others(10): Show | 13 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.3924-1775T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015760 | ||||||
| chr12:132015791
|
C | G | 4 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165others(1): Show | 4 | HG01884.hp2 HG01891.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.3924-1744C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015791 | ||||||
| chr12:132015839
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3924-1696G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132015839 | ||||||
| chr12:132016256
|
C | G | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.3924-1279C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016256 | ||||||
| chr12:132016377
|
C | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.3924-1158C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016377 | ||||||
| chr12:132016425
|
G | C | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3924-1110G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016425 | ||||||
| chr12:132016596
|
C | T | 10 | a0001c0002t0001g0106a0001c0002t0001g0123a0002c0001t0001g0081others(7): Show | 10 | HG00408.hp1 HG00558.hp1 HG03490.hp1 others(7): Show |
intron_variant | MODIFIER | c.3924-939C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016596 | ||||||
| chr12:132016758
|
G | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3924-777G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016758 | ||||||
| chr12:132016825
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3924-710C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132016825 | ||||||
| chr12:132017153
|
A | G | 54 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(51): Show | 54 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.3924-382A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132017153 | ||||||
| chr12:132017178
|
CG | C | 53 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(50): Show | 53 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.3924-354delG | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | 132017178 | |||||
| chr12:132017310
|
C | T | 1 | a0001c0006t0005g0200 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.3924-225C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132017310 | ||||||
| chr12:132017373
|
T | C | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.3924-162T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132017373 | ||||||
| chr12:132017451
|
A | C | 1 | a0002c0001t0001g0126 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3924-84A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132017451 | ||||||
| chr12:132017512
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3924-23C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 19/52 | chr12 | 132017512 | ||||||
| chr12:132017988
|
G | T | 1 | a0001c0002t0001g0149 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4111-222G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 20/52 | chr12 | 132017988 | ||||||
| chr12:132018008
|
A | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4111-202A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 20/52 | chr12 | 132018008 | ||||||
| chr12:132018116
|
C | G | 1 | a0010c0015t0001g0142 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4111-94C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 20/52 | chr12 | 132018116 | ||||||
| chr12:132018628
|
G | A | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4277+252G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132018628 | ||||||
| chr12:132019662
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4278-387G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132019662 | ||||||
| chr12:132019745
|
A | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4278-304A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132019745 | ||||||
| chr12:132019956
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4278-93A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132019956 | ||||||
| chr12:132019968
|
G | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4278-81G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132019968 | ||||||
| chr12:132019981
|
A | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4278-68A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 21/52 | chr12 | 132019981 | ||||||
| chr12:132020494
|
C | T | 3 | a0009c0011t0001g0041a0009c0011t0001g0043a0009c0011t0001g0044 | 3 | HG00642.hp2 HG01074.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.4447+276C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/52 | chr12 | 132020494 | ||||||
| chr12:132020527
|
C | T | 1 | a0002c0001t0001g0100 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.4447+309C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/52 | chr12 | 132020527 | ||||||
| chr12:132020593
|
G | A | 2 | a0001c0006t0005g0199a0001c0006t0005g0200 | 2 | NA18995.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.4447+375G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/52 | chr12 | 132020593 | ||||||
| chr12:132020861
|
C | A | 118 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(115): Show | 118 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(115): Show |
intron_variant | MODIFIER | c.4448-218C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/52 | chr12 | 132020861 | ||||||
| chr12:132021011
|
A | G | 106 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(103): Show | 106 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.4448-68A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 22/52 | chr12 | 132021011 | ||||||
| chr12:132021388
|
G | A | 1 | a0015c0027t0005g0205 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.4690+67G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132021388 | ||||||
| chr12:132021444
|
C | T | 1 | a0003c0008t0001g0158 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4690+123C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132021444 | ||||||
| chr12:132021447
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4690+126T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132021447 | ||||||
| chr12:132021476
|
G | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4690+155G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132021476 | ||||||
| chr12:132021547
|
G | A | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4690+226G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132021547 | ||||||
| chr12:132022123
|
G | T | 1 | a0004c0009t0004g0079 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4690+802G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022123 | ||||||
| chr12:132022239
|
G | T | 30 | a0001c0002t0001g0106a0001c0002t0001g0123a0002c0001t0001g0081others(27): Show | 30 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.4690+918G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022239 | ||||||
| chr12:132022450
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4690+1129C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022450 | ||||||
| chr12:132022530
|
T | C | 5 | a0001c0002t0001g0089a0001c0002t0001g0107a0001c0002t0001g0149others(2): Show | 5 | HG00735.hp1 HG00738.hp2 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.4690+1209T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022530 | ||||||
| chr12:132022598
|
C | A | 11 | a0001c0046t0001g0159a0003c0008t0001g0158a0003c0008t0001g0160others(8): Show | 11 | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.4691-1179C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022598 | ||||||
| chr12:132022600
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4691-1177A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022600 | ||||||
| chr12:132022648
|
C | T | 1 | a0001c0003t0002g0021 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.4691-1129C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022648 | ||||||
| chr12:132022660
|
C | CT | 53 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(50): Show | 53 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.4691-1104dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132022660 | |||||
| chr12:132022660
|
CT | C | 5 | a0001c0002t0001g0114a0004c0014t0007g0163a0004c0014t0007g0164others(2): Show | 5 | HG01169.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
intron_variant | MODIFIER | c.4691-1104delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132022660 | |||||
| chr12:132022756
|
T | C | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4691-1021T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132022756 | ||||||
| chr12:132023071
|
T | C | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.4691-706T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023071 | ||||||
| chr12:132023133
|
C | CT | 9 | a0001c0021t0006g0056a0002c0001t0001g0092a0003c0004t0002g0050others(6): Show | 9 | HG00438.hp1 HG02559.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.4691-629dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023133 | |||||
| chr12:132023133
|
CT | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.4691-629delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023133 | |||||
| chr12:132023133
|
CTT | C | 8 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(5): Show | 8 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.4691-630_4691-629d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023133 | |||||
| chr12:132023195
|
T | C | 10 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.4691-582T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023195 | ||||||
| chr12:132023225
|
C | T | 1 | a0002c0001t0003g0130 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4691-552C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023225 | ||||||
| chr12:132023299
|
A | AT | 46 | a0001c0002t0001g0098a0001c0002t0001g0123a0001c0002t0001g0140others(43): Show | 46 | HG00438.hp2 HG00597.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.4691-450dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023299 | |||||
| chr12:132023299
|
A | ATT | 25 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0001g0204others(22): Show | 25 | HG01106.hp1 HG01884.hp2 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.4691-451_4691-450d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023299 | |||||
| chr12:132023299
|
A | ATTT | 8 | a0001c0057t0012g0171a0003c0008t0001g0160a0004c0014t0007g0163others(5): Show | 8 | HG01099.hp2 HG01934.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.4691-452_4691-450d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023299 | |||||
| chr12:132023299
|
A | ATTTT | 9 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(6): Show | 9 | HG01081.hp2 HG01167.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.4691-453_4691-450d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023299 | |||||
| chr12:132023376
|
A | G | 107 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(104): Show | 107 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.4691-401A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023376 | ||||||
| chr12:132023705
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4691-72G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023705 | ||||||
| chr12:132023707
|
C | CT | 2 | a0001c0021t0002g0047a0001c0058t0002g0046 | 2 | HG01934.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.4691-69dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | INFO_REALIGN_3_PRIME | chr12 | 132023707 | |||||
| chr12:132023725
|
C | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.4691-52C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 23/52 | chr12 | 132023725 | ||||||
| chr12:132023992
|
C | G | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4855+51C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132023992 | ||||||
| chr12:132024358
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4855+417C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132024358 | ||||||
| chr12:132024670
|
G | A | 1 | a0004c0014t0007g0163 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4855+729G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132024670 | ||||||
| chr12:132024716
|
G | A | 3 | a0001c0002t0001g0091a0001c0002t0001g0097a0001c0002t0001g0124 | 3 | HG00140.hp1 HG01099.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.4855+775G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132024716 | ||||||
| chr12:132024831
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4856-815C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132024831 | ||||||
| chr12:132024868
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4856-778C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132024868 | ||||||
| chr12:132025031
|
G | T | 1 | a0013c0019t0001g0186 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4856-615G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025031 | ||||||
| chr12:132025032
|
A | G | 2 | a0001c0006t0005g0199a0001c0006t0005g0200 | 2 | NA18995.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.4856-614A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025032 | ||||||
| chr12:132025065
|
TAAAACAA others(3): Show |
T | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4856-564_4856-555d others(12): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | 132025065 | |||||
| chr12:132025179
|
T | C | 1 | a0002c0001t0003g0133 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4856-467T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025179 | ||||||
| chr12:132025259
|
C | T | 1 | a0002c0001t0001g0126 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4856-387C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025259 | ||||||
| chr12:132025351
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.4856-295C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025351 | ||||||
| chr12:132025383
|
G | A | 52 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(49): Show | 52 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.4856-263G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025383 | ||||||
| chr12:132025397
|
A | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4856-249A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025397 | ||||||
| chr12:132025432
|
T | C | 106 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(103): Show | 106 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.4856-214T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025432 | ||||||
| chr12:132025505
|
A | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4856-141A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 24/52 | chr12 | 132025505 | ||||||
| chr12:132025961
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5014+157A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132025961 | ||||||
| chr12:132026100
|
C | T | 1 | a0001c0003t0002g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.5014+296C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132026100 | ||||||
| chr12:132026265
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5014+461C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132026265 | ||||||
| chr12:132026706
|
A | G | 2 | a0002c0001t0003g0188a0005c0007t0003g0094 | 2 | HG03098.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5015-731A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132026706 | ||||||
| chr12:132027059
|
C | T | 1 | a0002c0001t0001g0038 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.5015-378C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132027059 | ||||||
| chr12:132027280
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.5015-157G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132027280 | ||||||
| chr12:132027299
|
A | C | 13 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(10): Show | 13 | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.5015-138A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132027299 | ||||||
| chr12:132027313
|
C | T | 1 | a0006c0024t0013g0152 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.5015-124C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 25/52 | chr12 | 132027313 | ||||||
| chr12:132027716
|
T | A | 21 | a0001c0002t0001g0034a0001c0002t0001g0089a0001c0002t0001g0091others(18): Show | 21 | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(18): Show |
intron_variant | MODIFIER | c.5109+185T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 26/52 | chr12 | 132027716 | ||||||
| chr12:132027927
|
G | A | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.5110-90G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 26/52 | chr12 | 132027927 | ||||||
| chr12:132028361
|
G | A | 1 | a0001c0002t0001g0088 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.5381+73G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028361 | ||||||
| chr12:132028397
|
C | T | 1 | a0001c0006t0001g0196 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.5381+109C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028397 | ||||||
| chr12:132028501
|
G | T | 1 | a0001c0002t0001g0085 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5381+213G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028501 | ||||||
| chr12:132028552
|
T | C | 106 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(103): Show | 106 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.5381+264T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028552 | ||||||
| chr12:132028700
|
C | T | 1 | a0005c0065t0001g0068 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.5381+412C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028700 | ||||||
| chr12:132028737
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5381+449C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028737 | ||||||
| chr12:132028808
|
A | G | 13 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(10): Show | 13 | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.5381+520A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028808 | ||||||
| chr12:132028865
|
T | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.5381+577T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028865 | ||||||
| chr12:132028888
|
G | A | 1 | a0012c0054t0001g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5381+600G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132028888 | ||||||
| chr12:132029030
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5382-671C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132029030 | ||||||
| chr12:132029254
|
C | T | 1 | a0002c0001t0001g0110 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5382-447C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132029254 | ||||||
| chr12:132029261
|
C | T | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5382-440C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132029261 | ||||||
| chr12:132029560
|
A | C | 1 | a0002c0001t0001g0143 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.5382-141A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 27/52 | chr12 | 132029560 | ||||||
| chr12:132029945
|
C | T | 107 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(104): Show | 107 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.5584+42C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 28/52 | chr12 | 132029945 | ||||||
| chr12:132030374
|
T | C | 13 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(10): Show | 13 | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.5754+216T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030374 | ||||||
| chr12:132030426
|
G | A | 1 | a0007c0012t0001g0031 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5754+268G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030426 | ||||||
| chr12:132030638
|
A | C | 15 | a0001c0006t0005g0199a0001c0006t0005g0200a0006c0053t0002g0029others(12): Show | 15 | HG01934.hp1 HG02258.hp2 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.5754+480A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030638 | ||||||
| chr12:132030826
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5754+668T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030826 | ||||||
| chr12:132030975
|
A | G | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.5754+817A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030975 | ||||||
| chr12:132030995
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5754+837T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132030995 | ||||||
| chr12:132031425
|
A | G | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5755-528A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132031425 | ||||||
| chr12:132031516
|
T | C | 1 | a0001c0002t0001g0114 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.5755-437T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132031516 | ||||||
| chr12:132031717
|
A | G | 207 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
intron_variant | MODIFIER | c.5755-236A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132031717 | ||||||
| chr12:132031887
|
G | T | 1 | a0003c0008t0001g0160 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5755-66G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 29/52 | chr12 | 132031887 | ||||||
| chr12:132032311
|
C | T | 52 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(49): Show | 52 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.5951+162C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032311 | ||||||
| chr12:132032538
|
A | AATT | 16 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.5951+392_5951+394d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132032538 | |||||
| chr12:132032622
|
G | GTTT | 7 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(4): Show | 7 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.5951+488_5951+490d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132032622 | |||||
| chr12:132032629
|
T | G | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5951+480T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032629 | ||||||
| chr12:132032640
|
C | T | 1 | a0002c0001t0001g0082 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.5951+491C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032640 | ||||||
| chr12:132032641
|
T | C | 1 | a0002c0001t0001g0082 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.5951+492T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032641 | ||||||
| chr12:132032678
|
G | A | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5951+529G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032678 | ||||||
| chr12:132032686
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5951+537A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032686 | ||||||
| chr12:132032775
|
C | T | 1 | a0002c0001t0005g0015 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.5951+626C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032775 | ||||||
| chr12:132032871
|
C | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5951+722C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132032871 | ||||||
| chr12:132032946
|
TTTTG | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.5951+809_5951+812d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132032946 | |||||
| chr12:132033060
|
G | A | 1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5951+911G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033060 | ||||||
| chr12:132033136
|
C | T | 19 | a0001c0003t0002g0002a0001c0003t0002g0004a0001c0003t0002g0006others(16): Show | 19 | HG00438.hp2 HG00597.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.5951+987C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033136 | ||||||
| chr12:132033207
|
C | T | 22 | a0001c0002t0001g0025a0001c0002t0001g0034a0001c0002t0001g0089others(19): Show | 22 | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.5951+1058C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033207 | ||||||
| chr12:132033237
|
C | T | 12 | a0001c0046t0001g0159a0003c0008t0001g0158a0003c0008t0001g0160others(9): Show | 12 | HG01884.hp2 HG01891.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.5951+1088C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033237 | ||||||
| chr12:132033274
|
A | G | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5951+1125A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033274 | ||||||
| chr12:132033371
|
T | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5951+1222T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033371 | ||||||
| chr12:132033436
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5951+1287C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033436 | ||||||
| chr12:132033488
|
G | A | 1 | a0011c0020t0002g0027 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5951+1339G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132033488 | ||||||
| chr12:132033542
|
C | CT | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG02056.hp1 HG02056.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.5951+1408dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132033542 | |||||
| chr12:132033542
|
CT | C | 6 | a0001c0002t0001g0123a0001c0021t0006g0056a0002c0001t0001g0083others(3): Show | 6 | HG01169.hp2 HG02559.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.5951+1408delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132033542 | |||||
| chr12:132033904
|
AT | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5951+1760delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132033904 | |||||
| chr12:132034128
|
G | A | 4 | a0001c0003t0002g0020a0001c0003t0014g0007a0002c0060t0009g0005others(1): Show | 4 | HG00597.hp2 HG02083.hp2 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.5951+1979G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034128 | ||||||
| chr12:132034361
|
G | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5951+2212G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034361 | ||||||
| chr12:132034437
|
C | T | 1 | a0001c0002t0001g0179 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.5951+2288C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034437 | ||||||
| chr12:132034462
|
A | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5951+2313A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034462 | ||||||
| chr12:132034629
|
T | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.5951+2480T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034629 | ||||||
| chr12:132034634
|
C | T | 1 | a0001c0002t0001g0085 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5951+2485C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034634 | ||||||
| chr12:132034635
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.5951+2486G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034635 | ||||||
| chr12:132034670
|
G | T | 3 | a0008c0017t0001g0168a0008c0017t0001g0176a0008c0050t0001g0177 | 3 | HG01934.hp1 HG02451.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.5951+2521G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034670 | ||||||
| chr12:132034810
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5951+2661C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034810 | ||||||
| chr12:132034897
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5951+2748A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132034897 | ||||||
| chr12:132035138
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5952-2544C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035138 | ||||||
| chr12:132035285
|
T | C | 118 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(115): Show | 118 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(115): Show |
intron_variant | MODIFIER | c.5952-2397T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035285 | ||||||
| chr12:132035332
|
A | G | 1 | a0012c0054t0001g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5952-2350A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035332 | ||||||
| chr12:132035517
|
G | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5952-2165G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035517 | ||||||
| chr12:132035557
|
A | G | 16 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.5952-2125A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035557 | ||||||
| chr12:132035558
|
A | G | 1 | a0001c0003t0002g0024 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.5952-2124A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035558 | ||||||
| chr12:132035752
|
C | G | 3 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0156 | 3 | HG02965.hp1 HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.5952-1930C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035752 | ||||||
| chr12:132035789
|
C | T | 3 | a0001c0039t0001g0084a0003c0016t0001g0101a0003c0016t0001g0181 | 3 | HG01175.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5952-1893C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035789 | ||||||
| chr12:132035823
|
C | T | 3 | a0001c0039t0001g0084a0003c0016t0001g0101a0003c0016t0001g0181 | 3 | HG01175.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5952-1859C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132035823 | ||||||
| chr12:132036026
|
C | T | 5 | a0004c0005t0001g0138a0004c0005t0001g0146a0004c0005t0001g0147others(2): Show | 5 | HG01071.hp1 HG01106.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.5952-1656C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036026 | ||||||
| chr12:132036060
|
C | T | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.5952-1622C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036060 | ||||||
| chr12:132036194
|
G | A | 2 | a0002c0001t0003g0188a0005c0007t0003g0094 | 2 | HG03098.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5952-1488G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036194 | ||||||
| chr12:132036222
|
C | T | 8 | a0002c0001t0003g0130a0002c0001t0003g0133a0002c0001t0003g0188others(5): Show | 8 | HG02109.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.5952-1460C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036222 | ||||||
| chr12:132036275
|
C | G | 1 | a0001c0002t0001g0099 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.5952-1407C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036275 | ||||||
| chr12:132036296
|
T | C | 2 | a0002c0040t0001g0102a0002c0041t0001g0120 | 2 | HG00558.hp2 HG00597.hp1 |
intron_variant | MODIFIER | c.5952-1386T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036296 | ||||||
| chr12:132036329
|
ACATCGTG others(61): Show |
A | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.5952-1342_5952-127 others(72): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chr12 | 132036329 | |||||
| chr12:132036383
|
C | T | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.5952-1299C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036383 | ||||||
| chr12:132036401
|
C | T | 52 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(49): Show | 52 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(49): Show |
intron_variant | MODIFIER | c.5952-1281C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036401 | ||||||
| chr12:132036787
|
T | C | 3 | a0008c0017t0001g0168a0008c0017t0001g0176a0008c0050t0001g0177 | 3 | HG01934.hp1 HG02451.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.5952-895T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036787 | ||||||
| chr12:132036790
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.5952-892A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036790 | ||||||
| chr12:132036879
|
G | C | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.5952-803G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036879 | ||||||
| chr12:132036927
|
G | T | 99 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(96): Show | 99 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(96): Show |
intron_variant | MODIFIER | c.5952-755G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132036927 | ||||||
| chr12:132037036
|
A | G | 118 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(115): Show | 118 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(115): Show |
intron_variant | MODIFIER | c.5952-646A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132037036 | ||||||
| chr12:132037210
|
C | T | 1 | a0004c0005t0001g0180 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.5952-472C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132037210 | ||||||
| chr12:132037515
|
G | C | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5952-167G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132037515 | ||||||
| chr12:132037637
|
T | C | 1 | a0002c0001t0001g0100 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.5952-45T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 30/52 | chr12 | 132037637 | ||||||
| chr12:132037808
|
A | G | 3 | a0009c0011t0001g0041a0009c0011t0001g0043a0009c0011t0001g0044 | 3 | HG00642.hp2 HG01074.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.6063+15A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 31/52 | chr12 | 132037808 | ||||||
| chr12:132038308
|
G | A | 3 | a0001c0002t0001g0140a0002c0001t0001g0185a0024c0033t0001g0074 | 3 | HG01978.hp1 HG02056.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.6207+212G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038308 | ||||||
| chr12:132038344
|
G | A | 38 | a0001c0002t0001g0093a0001c0002t0001g0106a0001c0002t0001g0123others(35): Show | 38 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(35): Show |
intron_variant | MODIFIER | c.6207+248G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038344 | ||||||
| chr12:132038387
|
C | T | 24 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(21): Show | 24 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(21): Show |
intron_variant | MODIFIER | c.6207+291C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038387 | ||||||
| chr12:132038646
|
T | C | 5 | a0001c0021t0006g0056a0003c0013t0006g0055a0003c0016t0001g0101others(2): Show | 5 | HG01175.hp2 HG02559.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.6207+550T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038646 | ||||||
| chr12:132038736
|
C | T | 1 | a0001c0018t0005g0203 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.6207+640C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038736 | ||||||
| chr12:132038945
|
C | T | 35 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(32): Show | 35 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.6207+849C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132038945 | ||||||
| chr12:132039358
|
G | A | 1 | a0002c0001t0001g0143 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.6207+1262G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039358 | ||||||
| chr12:132039521
|
G | A | 1 | a0001c0002t0001g0183 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.6207+1425G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039521 | ||||||
| chr12:132039521
|
G | T | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.6207+1425G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039521 | ||||||
| chr12:132039592
|
C | G | 11 | a0001c0046t0001g0159a0003c0008t0001g0160a0003c0008t0001g0162others(8): Show | 11 | HG01884.hp2 HG01891.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.6207+1496C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039592 | ||||||
| chr12:132039620
|
A | C | 108 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(105): Show | 108 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.6207+1524A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039620 | ||||||
| chr12:132039804
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6207+1708C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132039804 | ||||||
| chr12:132040045
|
T | C | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.6207+1949T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040045 | ||||||
| chr12:132040163
|
G | T | 43 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(40): Show | 43 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(40): Show |
intron_variant | MODIFIER | c.6207+2067G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040163 | ||||||
| chr12:132040354
|
C | T | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.6207+2258C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040354 | ||||||
| chr12:132040524
|
G | A | 2 | a0001c0002t0001g0099a0022c0043t0001g0115 | 2 | NA19065.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.6207+2428G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040524 | ||||||
| chr12:132040580
|
C | T | 2 | a0001c0059t0002g0052a0005c0065t0001g0068 | 2 | HG02886.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.6207+2484C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040580 | ||||||
| chr12:132040591
|
A | C | 8 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(5): Show | 8 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.6207+2495A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040591 | ||||||
| chr12:132040690
|
T | C | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.6207+2594T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040690 | ||||||
| chr12:132040827
|
G | T | 39 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(36): Show | 39 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.6208-2477G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040827 | ||||||
| chr12:132040876
|
G | T | 34 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(31): Show | 34 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(31): Show |
intron_variant | MODIFIER | c.6208-2428G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040876 | ||||||
| chr12:132040928
|
G | A | 1 | a0001c0002t0001g0106 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.6208-2376G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132040928 | ||||||
| chr12:132041073
|
C | G | 1 | a0004c0005t0001g0180 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.6208-2231C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132041073 | ||||||
| chr12:132041148
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.6208-2156C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132041148 | ||||||
| chr12:132041238
|
G | A | 1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.6208-2066G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132041238 | ||||||
| chr12:132041591
|
A | C | 84 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(81): Show | 84 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.6208-1713A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132041591 | ||||||
| chr12:132041795
|
A | G | 2 | a0001c0003t0002g0017a0001c0003t0002g0019 | 2 | HG02080.hp1 HG02129.hp2 |
intron_variant | MODIFIER | c.6208-1509A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132041795 | ||||||
| chr12:132041956
|
C | CT | 88 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(85): Show | 88 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.6208-1334dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | INFO_REALIGN_3_PRIME | chr12 | 132041956 | |||||
| chr12:132042058
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.6208-1246C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042058 | ||||||
| chr12:132042086
|
A | G | 8 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(5): Show | 8 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.6208-1218A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042086 | ||||||
| chr12:132042290
|
T | C | 3 | a0001c0002t0001g0091a0001c0002t0001g0097a0001c0002t0001g0124 | 3 | HG00140.hp1 HG01099.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.6208-1014T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042290 | ||||||
| chr12:132042315
|
T | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6208-989T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042315 | ||||||
| chr12:132042333
|
T | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6208-971T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042333 | ||||||
| chr12:132042582
|
A | G | 107 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(104): Show | 107 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.6208-722A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042582 | ||||||
| chr12:132042673
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.6208-631A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042673 | ||||||
| chr12:132042690
|
G | A | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.6208-614G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042690 | ||||||
| chr12:132042836
|
C | T | 1 | a0004c0009t0004g0078 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.6208-468C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042836 | ||||||
| chr12:132042988
|
C | T | 1 | a0001c0002t0001g0098 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.6208-316C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132042988 | ||||||
| chr12:132043192
|
G | C | 1 | a0005c0065t0001g0068 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6208-112G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132043192 | ||||||
| chr12:132043270
|
C | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6208-34C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 32/52 | chr12 | 132043270 | ||||||
| chr12:132043508
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6366+46C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 33/52 | chr12 | 132043508 | ||||||
| chr12:132043885
|
C | T | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.6450+157C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 34/52 | chr12 | 132043885 | ||||||
| chr12:132044539
|
A | G | 1 | a0013c0019t0001g0127 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6586-132A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 35/52 | chr12 | 132044539 | ||||||
| chr12:132044758
|
C | T | 1 | a0001c0046t0001g0159 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6631-42C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 36/52 | chr12 | 132044758 | ||||||
| chr12:132045024
|
TTCTGCTG others(8): Show |
T | 6 | a0001c0002t0001g0088a0001c0002t0001g0140a0001c0002t0001g0189others(3): Show | 6 | HG01975.hp2 HG01978.hp1 HG02056.hp1 others(3): Show |
intron_variant | MODIFIER | c.6784+94_6784+108de others(16): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chr12 | 132045024 | |||||
| chr12:132045067
|
C | T | 1 | a0005c0007t0008g0049 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6784+114C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | chr12 | 132045067 | ||||||
| chr12:132045087
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.6784+134C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | chr12 | 132045087 | ||||||
| chr12:132045104
|
T | C | 3 | a0002c0001t0001g0190a0002c0045t0002g0192a0005c0007t0002g0193 | 3 | HG01074.hp2 HG02257.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.6784+151T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | chr12 | 132045104 | ||||||
| chr12:132045162
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.6785-157A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | chr12 | 132045162 | ||||||
| chr12:132045180
|
GTC | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.6785-137_6785-136d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chr12 | 132045180 | |||||
| chr12:132045926
|
G | A | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7200+26G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132045926 | ||||||
| chr12:132045994
|
T | G | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.7200+94T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132045994 | ||||||
| chr12:132046226
|
G | A | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.7200+326G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132046226 | ||||||
| chr12:132046246
|
T | C | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.7200+346T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132046246 | ||||||
| chr12:132046645
|
C | T | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.7200+745C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132046645 | ||||||
| chr12:132046906
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7200+1006C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132046906 | ||||||
| chr12:132047302
|
A | G | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7200+1402A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047302 | ||||||
| chr12:132047318
|
T | C | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7200+1418T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047318 | ||||||
| chr12:132047491
|
G | A | 1 | a0001c0003t0002g0013 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.7200+1591G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047491 | ||||||
| chr12:132047843
|
G | A | 1 | a0002c0062t0001g0012 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.7200+1943G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047843 | ||||||
| chr12:132047898
|
C | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7200+1998C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047898 | ||||||
| chr12:132047970
|
G | C | 105 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(102): Show | 105 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.7200+2070G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132047970 | ||||||
| chr12:132048096
|
G | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7200+2196G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048096 | ||||||
| chr12:132048212
|
G | C | 1 | a0002c0001t0001g0143 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.7201-2111G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048212 | ||||||
| chr12:132048330
|
A | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.7201-1993A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048330 | ||||||
| chr12:132048353
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7201-1970G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048353 | ||||||
| chr12:132048505
|
A | G | 1 | a0002c0022t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.7201-1818A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048505 | ||||||
| chr12:132048519
|
A | AT | 76 | a0001c0002t0001g0034a0001c0002t0001g0091a0001c0002t0001g0097others(73): Show | 76 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.7201-1784dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | INFO_REALIGN_3_PRIME | chr12 | 132048519 | |||||
| chr12:132048519
|
A | ATT | 10 | a0001c0003t0002g0024a0001c0018t0001g0204a0001c0018t0005g0203others(7): Show | 10 | HG02056.hp2 HG02145.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.7201-1785_7201-178 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | INFO_REALIGN_3_PRIME | chr12 | 132048519 | |||||
| chr12:132048574
|
G | A | 2 | a0001c0002t0001g0099a0022c0043t0001g0115 | 2 | NA19065.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.7201-1749G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048574 | ||||||
| chr12:132048706
|
A | G | 36 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(33): Show | 36 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.7201-1617A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048706 | ||||||
| chr12:132048737
|
C | T | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7201-1586C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048737 | ||||||
| chr12:132048845
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7201-1478T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132048845 | ||||||
| chr12:132049156
|
C | T | 6 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(3): Show | 6 | HG02056.hp2 HG02735.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.7201-1167C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049156 | ||||||
| chr12:132049192
|
A | G | 61 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(58): Show | 61 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.7201-1131A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049192 | ||||||
| chr12:132049572
|
T | C | 1 | a0001c0002t0001g0149 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.7201-751T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049572 | ||||||
| chr12:132049754
|
T | C | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.7201-569T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049754 | ||||||
| chr12:132049820
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7201-503C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049820 | ||||||
| chr12:132049913
|
C | G | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.7201-410C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049913 | ||||||
| chr12:132049943
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7201-380G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049943 | ||||||
| chr12:132049973
|
G | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7201-350G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132049973 | ||||||
| chr12:132050013
|
G | A | 2 | a0001c0018t0001g0204a0001c0025t0001g0202 | 2 | NA18952.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.7201-310G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132050013 | ||||||
| chr12:132050152
|
G | A | 6 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0156others(3): Show | 6 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.7201-171G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 39/52 | chr12 | 132050152 | ||||||
| chr12:132050510
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7337+51G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 40/52 | chr12 | 132050510 | ||||||
| chr12:132050743
|
G | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7394+88G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132050743 | ||||||
| chr12:132050921
|
T | C | 1 | a0002c0001t0001g0143 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.7394+266T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132050921 | ||||||
| chr12:132051290
|
C | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7394+635C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051290 | ||||||
| chr12:132051409
|
C | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7394+754C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051409 | ||||||
| chr12:132051512
|
G | T | 105 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(102): Show | 105 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.7394+857G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051512 | ||||||
| chr12:132051596
|
A | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7394+941A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051596 | ||||||
| chr12:132051649
|
G | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7394+994G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051649 | ||||||
| chr12:132051678
|
A | G | 105 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(102): Show | 105 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.7394+1023A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051678 | ||||||
| chr12:132051733
|
G | A | 1 | a0001c0002t0001g0098 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.7394+1078G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051733 | ||||||
| chr12:132051803
|
A | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7394+1148A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051803 | ||||||
| chr12:132051951
|
T | C | 1 | a0001c0002t0001g0183 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.7395-1195T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132051951 | ||||||
| chr12:132052071
|
C | T | 1 | a0006c0064t0006g0057 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.7395-1075C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052071 | ||||||
| chr12:132052189
|
A | T | 3 | a0001c0003t0002g0004a0001c0003t0002g0008a0014c0032t0002g0022 | 3 | NA19065.hp1 NA19079.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.7395-957A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052189 | ||||||
| chr12:132052228
|
G | A | 2 | a0001c0002t0001g0189a0004c0005t0001g0137 | 2 | HG01975.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.7395-918G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052228 | ||||||
| chr12:132052247
|
G | A | 1 | a0001c0003t0002g0021 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.7395-899G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052247 | ||||||
| chr12:132052285
|
C | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7395-861C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052285 | ||||||
| chr12:132052400
|
G | A | 1 | a0001c0002t0001g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.7395-746G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052400 | ||||||
| chr12:132052448
|
G | C | 1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.7395-698G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052448 | ||||||
| chr12:132052520
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7395-626C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052520 | ||||||
| chr12:132052629
|
G | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7395-517G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052629 | ||||||
| chr12:132052641
|
C | T | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7395-505C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052641 | ||||||
| chr12:132052707
|
G | A | 35 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(32): Show | 35 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(32): Show |
intron_variant | MODIFIER | c.7395-439G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052707 | ||||||
| chr12:132052794
|
C | T | 13 | a0001c0069t0002g0061a0003c0004t0002g0053a0003c0004t0002g0058others(10): Show | 13 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.7395-352C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132052794 | ||||||
| chr12:132053025
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7395-121G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132053025 | ||||||
| chr12:132053030
|
C | T | 2 | a0001c0006t0005g0199a0001c0006t0005g0200 | 2 | NA18995.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.7395-116C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132053030 | ||||||
| chr12:132053031
|
A | G | 105 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(102): Show | 105 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.7395-115A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 41/52 | chr12 | 132053031 | ||||||
| chr12:132053253
|
T | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7473+29T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 42/52 | chr12 | 132053253 | ||||||
| chr12:132053285
|
G | C | 1 | a0002c0001t0001g0132 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.7474-58G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 42/52 | chr12 | 132053285 | ||||||
| chr12:132053830
|
C | T | 1 | a0007c0012t0001g0030 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.7728+233C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132053830 | ||||||
| chr12:132053855
|
C | CAGCTCCT others(12): Show |
1 | a0002c0001t0001g0208 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.7728+259_7728+277d others(21): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chr12 | 132053855 | |||||
| chr12:132053972
|
G | A | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7728+375G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132053972 | ||||||
| chr12:132053977
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7728+380T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132053977 | ||||||
| chr12:132054212
|
C | T | 2 | a0001c0021t0002g0047a0001c0058t0002g0046 | 2 | HG01934.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.7728+615C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132054212 | ||||||
| chr12:132054792
|
G | T | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.7729-182G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132054792 | ||||||
| chr12:132054906
|
G | A | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.7729-68G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132054906 | ||||||
| chr12:132054913
|
G | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7729-61G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | chr12 | 132054913 | ||||||
| chr12:132054955
|
A | AT | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
splice_region_variant&intron_variant | LOW | c.7729-7dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chr12 | 132054955 | |||||
| chr12:132055280
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+72C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055280 | ||||||
| chr12:132055431
|
A | ATGTG | 51 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(48): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.7884+236_7884+239d others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055431 | |||||
| chr12:132055455
|
G | GGT | 4 | a0002c0001t0001g0108a0002c0068t0001g0040a0004c0023t0001g0151others(1): Show | 4 | HG01433.hp1 HG01891.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.7884+265_7884+266d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055455 | |||||
| chr12:132055455
|
GGT | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+265_7884+266d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055455 | |||||
| chr12:132055476
|
G | C | 2 | a0001c0006t0005g0199a0001c0006t0005g0200 | 2 | NA18995.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.7884+268G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055476 | ||||||
| chr12:132055501
|
GGT | G | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+305_7884+306d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055501 | |||||
| chr12:132055546
|
T | TGTGTGTG others(12): Show |
8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7884+360_7884+378d others(21): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055546 | |||||
| chr12:132055664
|
ATG | A | 8 | a0006c0053t0002g0029a0007c0012t0001g0030a0007c0012t0001g0031others(5): Show | 8 | HG02615.hp1 HG02647.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.7884+463_7884+464d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055664 | |||||
| chr12:132055675
|
G | C | 1 | a0017c0028t0004g0155 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7884+467G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055675 | ||||||
| chr12:132055687
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+479G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055687 | ||||||
| chr12:132055751
|
G | GGTGT | 4 | a0001c0018t0001g0204a0001c0025t0001g0202a0001c0026t0002g0201others(1): Show | 4 | HG02735.hp1 HG03654.hp2 NA18952.hp2 others(1): Show |
intron_variant | MODIFIER | c.7884+545_7884+546i others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055751 | |||||
| chr12:132055753
|
T | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7884+545T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055753 | ||||||
| chr12:132055754
|
A | ATG | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.7884+563_7884+564d others(4): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132055754 | |||||
| chr12:132055754
|
A | G | 8 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(5): Show | 8 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.7884+546A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055754 | ||||||
| chr12:132055788
|
G | A | 4 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165others(1): Show | 4 | HG01884.hp2 HG01891.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.7884+580G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055788 | ||||||
| chr12:132055803
|
A | G | 2 | a0001c0002t0001g0123a0020c0035t0001g0090 | 2 | NA18941.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.7884+595A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132055803 | ||||||
| chr12:132056017
|
C | T | 3 | a0003c0047t0001g0070a0004c0023t0001g0151a0006c0024t0013g0152 | 3 | HG01891.hp2 HG03225.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.7884+809C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056017 | ||||||
| chr12:132056041
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+833C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056041 | ||||||
| chr12:132056096
|
C | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+888C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056096 | ||||||
| chr12:132056425
|
G | GCACA | 50 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(47): Show | 50 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.7884+1236_7884+123 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132056425 | |||||
| chr12:132056425
|
G | GCACACAC others(3): Show |
1 | a0001c0003t0002g0018 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.7884+1230_7884+123 others(14): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132056425 | |||||
| chr12:132056425
|
GCA | G | 9 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(6): Show | 9 | HG01891.hp2 HG02056.hp2 HG02735.hp1 others(6): Show |
intron_variant | MODIFIER | c.7884+1238_7884+123 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132056425 | |||||
| chr12:132056535
|
G | A | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7884+1327G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056535 | ||||||
| chr12:132056881
|
C | A | 1 | a0001c0021t0006g0056 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.7884+1673C>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056881 | ||||||
| chr12:132056969
|
T | A | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.7884+1761T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132056969 | ||||||
| chr12:132057045
|
G | T | 1 | a0003c0013t0006g0054 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.7884+1837G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057045 | ||||||
| chr12:132057048
|
G | A | 1 | a0002c0001t0001g0190 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.7884+1840G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057048 | ||||||
| chr12:132057114
|
T | C | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.7884+1906T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057114 | ||||||
| chr12:132057127
|
A | T | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7884+1919A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057127 | ||||||
| chr12:132057347
|
C | T | 1 | a0006c0064t0006g0057 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.7884+2139C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057347 | ||||||
| chr12:132057469
|
A | G | 115 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(112): Show | 115 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(112): Show |
intron_variant | MODIFIER | c.7884+2261A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057469 | ||||||
| chr12:132057540
|
G | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+2332G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057540 | ||||||
| chr12:132057604
|
A | G | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.7884+2396A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057604 | ||||||
| chr12:132057732
|
G | A | 9 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(6): Show | 9 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.7884+2524G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057732 | ||||||
| chr12:132057732
|
G | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+2524G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057732 | ||||||
| chr12:132057893
|
C | T | 1 | a0002c0001t0001g0122 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.7884+2685C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132057893 | ||||||
| chr12:132058144
|
G | GTCTTGTG others(52): Show |
1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7884+2940_7884+299 others(63): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058144 | |||||
| chr12:132058161
|
T | C | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7884+2953T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058161 | ||||||
| chr12:132058285
|
G | C | 37 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(34): Show | 37 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(34): Show |
intron_variant | MODIFIER | c.7884+3077G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058285 | ||||||
| chr12:132058353
|
A | AT | 89 | a0001c0002t0001g0183a0001c0003t0002g0002a0001c0003t0002g0003others(86): Show | 89 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.7884+3164dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058353 | |||||
| chr12:132058353
|
A | ATT | 9 | a0001c0002t0001g0114a0001c0006t0001g0175a0003c0004t0002g0050others(6): Show | 9 | HG01169.hp1 HG01433.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.7884+3163_7884+316 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058353 | |||||
| chr12:132058353
|
A | ATTTTTTT others(12): Show |
1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7884+3146_7884+316 others(23): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058353 | |||||
| chr12:132058353
|
AT | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7884+3164delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058353 | |||||
| chr12:132058353
|
ATTT | A | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7884+3162_7884+316 others(7): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058353 | |||||
| chr12:132058430
|
C | T | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7884+3222C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058430 | ||||||
| chr12:132058440
|
C | G | 1 | a0001c0002t0001g0088 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.7884+3232C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058440 | ||||||
| chr12:132058513
|
G | GGCTAATT others(4): Show |
8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7884+3315_7884+331 others(15): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058513 | |||||
| chr12:132058616
|
C | T | 5 | a0006c0053t0002g0029a0007c0012t0001g0031a0007c0012t0001g0032others(2): Show | 5 | HG02615.hp1 HG02647.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.7884+3408C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058616 | ||||||
| chr12:132058685
|
C | T | 1 | a0004c0009t0004g0153 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7885-3425C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132058685 | ||||||
| chr12:132058791
|
C | CT | 58 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(55): Show | 58 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(55): Show |
intron_variant | MODIFIER | c.7885-3304dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132058791 | |||||
| chr12:132059068
|
ATAAT | A | 31 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(28): Show | 31 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(28): Show |
intron_variant | MODIFIER | c.7885-3035_7885-303 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132059068 | |||||
| chr12:132059079
|
T | C | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7885-3031T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059079 | ||||||
| chr12:132059129
|
C | T | 2 | a0001c0003t0002g0023a0001c0003t0002g0024 | 2 | NA18993.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.7885-2981C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059129 | ||||||
| chr12:132059338
|
A | T | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7885-2772A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059338 | ||||||
| chr12:132059339
|
G | A | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7885-2771G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059339 | ||||||
| chr12:132059363
|
T | C | 7 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(4): Show | 7 | HG02056.hp2 HG02735.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.7885-2747T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059363 | ||||||
| chr12:132059786
|
C | CG | 5 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(2): Show | 5 | HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.7885-2321dupG | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132059786 | |||||
| chr12:132059830
|
C | T | 1 | a0004c0014t0007g0165 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7885-2280C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059830 | ||||||
| chr12:132059996
|
C | G | 1 | a0027c0031t0001g0072 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.7885-2114C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132059996 | ||||||
| chr12:132060009
|
C | T | 1 | a0002c0001t0001g0039 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.7885-2101C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060009 | ||||||
| chr12:132060017
|
C | T | 3 | a0008c0017t0001g0168a0008c0017t0001g0176a0008c0050t0001g0177 | 3 | HG01934.hp1 HG02451.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.7885-2093C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060017 | ||||||
| chr12:132060018
|
G | A | 1 | a0002c0001t0001g0132 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.7885-2092G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060018 | ||||||
| chr12:132060020
|
TA | T | 10 | a0001c0021t0006g0056a0001c0066t0001g0073a0002c0001t0001g0143others(7): Show | 10 | HG01243.hp2 HG02258.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.7885-2076delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132060020 | |||||
| chr12:132060098
|
C | T | 33 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(30): Show | 33 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(30): Show |
intron_variant | MODIFIER | c.7885-2012C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060098 | ||||||
| chr12:132060149
|
C | T | 90 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(87): Show | 90 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(87): Show |
intron_variant | MODIFIER | c.7885-1961C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060149 | ||||||
| chr12:132060302
|
A | G | 14 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0021t0006g0056others(11): Show | 14 | HG01243.hp2 HG01891.hp2 HG02056.hp2 others(11): Show |
intron_variant | MODIFIER | c.7885-1808A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060302 | ||||||
| chr12:132060386
|
G | A | 1 | a0005c0007t0003g0094 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.7885-1724G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060386 | ||||||
| chr12:132060419
|
A | T | 1 | a0001c0002t0001g0034 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.7885-1691A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060419 | ||||||
| chr12:132060504
|
G | C | 1 | a0016c0067t0001g0195 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.7885-1606G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060504 | ||||||
| chr12:132060527
|
A | T | 30 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(27): Show | 30 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(27): Show |
intron_variant | MODIFIER | c.7885-1583A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060527 | ||||||
| chr12:132060598
|
G | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7885-1512G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060598 | ||||||
| chr12:132060659
|
T | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.7885-1451T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060659 | ||||||
| chr12:132060914
|
CA | C | 182 | a0001c0002t0001g0025a0001c0002t0001g0034a0001c0002t0001g0085others(179): Show | 182 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.7885-1181delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132060914 | |||||
| chr12:132060929
|
A | G | 1 | a0017c0028t0004g0155 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7885-1181A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132060929 | ||||||
| chr12:132061058
|
T | C | 1 | a0004c0009t0004g0153 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7885-1052T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061058 | ||||||
| chr12:132061333
|
GA | G | 38 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(35): Show | 38 | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.7885-774delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132061333 | |||||
| chr12:132061529
|
G | A | 1 | a0004c0005t0001g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.7885-581G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061529 | ||||||
| chr12:132061531
|
G | C | 1 | a0001c0006t0005g0199 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.7885-579G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061531 | ||||||
| chr12:132061533
|
G | T | 1 | a0001c0006t0005g0199 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.7885-577G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061533 | ||||||
| chr12:132061534
|
A | C | 1 | a0001c0006t0005g0199 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.7885-576A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061534 | ||||||
| chr12:132061775
|
G | A | 1 | a0001c0066t0001g0073 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.7885-335G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061775 | ||||||
| chr12:132061908
|
TCTG | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7885-198_7885-196d others(5): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chr12 | 132061908 | |||||
| chr12:132061918
|
G | A | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7885-192G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061918 | ||||||
| chr12:132061963
|
C | T | 1 | a0002c0001t0001g0139 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.7885-147C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 45/52 | chr12 | 132061963 | ||||||
| chr12:132062801
|
A | T | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.8334+100A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132062801 | ||||||
| chr12:132062812
|
G | A | 1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.8334+111G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132062812 | ||||||
| chr12:132062893
|
T | C | 4 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(1): Show | 4 | HG02056.hp2 HG02735.hp1 NA18952.hp2 others(1): Show |
intron_variant | MODIFIER | c.8334+192T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132062893 | ||||||
| chr12:132063059
|
A | C | 4 | a0001c0018t0001g0204a0001c0018t0005g0203a0001c0025t0001g0202others(1): Show | 4 | HG02056.hp2 HG02735.hp1 NA18952.hp2 others(1): Show |
intron_variant | MODIFIER | c.8334+358A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063059 | ||||||
| chr12:132063219
|
A | T | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.8334+518A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063219 | ||||||
| chr12:132063742
|
T | C | 2 | a0003c0013t0001g0141a0005c0061t0002g0071 | 2 | HG02922.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.8335-926T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063742 | ||||||
| chr12:132063776
|
C | G | 1 | a0004c0052t0002g0051 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.8335-892C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063776 | ||||||
| chr12:132063797
|
G | A | 7 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0001g0204others(4): Show | 7 | HG02056.hp2 HG02735.hp1 HG03540.hp1 others(4): Show |
intron_variant | MODIFIER | c.8335-871G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063797 | ||||||
| chr12:132063800
|
G | A | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.8335-868G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063800 | ||||||
| chr12:132063821
|
T | G | 6 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0001g0204others(3): Show | 6 | HG02056.hp2 HG02735.hp1 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.8335-847T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063821 | ||||||
| chr12:132063828
|
A | G | 1 | a0005c0048t0001g0206 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.8335-840A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063828 | ||||||
| chr12:132063855
|
C | T | 1 | a0001c0002t0001g0106 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.8335-813C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063855 | ||||||
| chr12:132063964
|
A | ACCCCCCC others(55): Show |
1 | a0023c0044t0001g0036 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.8335-677_8335-616d others(64): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132063964 | |||||
| chr12:132063991
|
A | G | 1 | a0002c0001t0005g0015 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.8335-677A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132063991 | ||||||
| chr12:132064023
|
GA | G | 6 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0001g0204others(3): Show | 6 | HG02056.hp2 HG02735.hp1 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.8335-644delA | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064023 | ||||||
| chr12:132064024
|
A | ACCCCCCC others(54): Show |
2 | a0001c0002t0001g0179a0021c0042t0001g0144 | 2 | NA18945.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.8335-643_8335-583d others(63): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132064024 | |||||
| chr12:132064024
|
A | ACCCCCCC others(113): Show |
1 | a0024c0033t0001g0074 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.8335-557_8335-556i others(122): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132064024 | |||||
| chr12:132064024
|
AC | A | 96 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(93): Show | 96 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.8335-635delC | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132064024 | |||||
| chr12:132064025
|
C | CCCCCCCC others(53): Show |
1 | a0006c0010t0004g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8335-636_8335-635i others(62): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132064025 | |||||
| chr12:132064038
|
CACAGCCA others(52): Show |
C | 4 | a0001c0002t0001g0093a0001c0039t0001g0084a0003c0016t0001g0101others(1): Show | 4 | HG01175.hp2 HG03195.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.8335-584_8335-526d others(61): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | 132064038 | |||||
| chr12:132064069
|
C | T | 34 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(31): Show | 34 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.8335-599C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064069 | ||||||
| chr12:132064092
|
C | T | 1 | a0001c0057t0012g0171 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.8335-576C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064092 | ||||||
| chr12:132064163
|
C | G | 1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.8335-505C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064163 | ||||||
| chr12:132064393
|
A | G | 2 | a0003c0016t0001g0101a0003c0016t0001g0181 | 2 | HG01175.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.8335-275A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064393 | ||||||
| chr12:132064452
|
C | T | 1 | a0024c0033t0001g0074 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.8335-216C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064452 | ||||||
| chr12:132064489
|
A | G | 1 | a0028c0072t0001g0161 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.8335-179A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064489 | ||||||
| chr12:132064580
|
A | G | 1 | a0003c0047t0001g0070 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.8335-88A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064580 | ||||||
| chr12:132064616
|
A | G | 17 | a0002c0001t0001g0086a0002c0001t0003g0188a0003c0004t0002g0050others(14): Show | 17 | HG01175.hp1 HG01891.hp1 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.8335-52A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/52 | chr12 | 132064616 | ||||||
| chr12:132064969
|
T | C | 1 | a0002c0001t0001g0125 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.8553+83T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132064969 | ||||||
| chr12:132064980
|
A | C | 1 | a0004c0023t0001g0151 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.8553+94A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132064980 | ||||||
| chr12:132065247
|
G | C | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.8553+361G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065247 | ||||||
| chr12:132065339
|
G | A | 1 | a0001c0003t0002g0018 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.8553+453G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065339 | ||||||
| chr12:132065349
|
T | C | 1 | a0001c0069t0002g0061 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.8553+463T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065349 | ||||||
| chr12:132065369
|
C | G | 2 | a0008c0017t0001g0168a0008c0017t0001g0176 | 2 | HG02451.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.8553+483C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065369 | ||||||
| chr12:132065470
|
G | C | 9 | a0001c0039t0001g0084a0004c0009t0004g0078a0004c0009t0004g0079others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.8553+584G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065470 | ||||||
| chr12:132065573
|
TTAAGAAA | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.8553+688_8553+694d others(9): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065573 | ||||||
| chr12:132065671
|
A | G | 6 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(3): Show | 6 | HG02056.hp2 HG02735.hp1 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.8553+785A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065671 | ||||||
| chr12:132065847
|
G | T | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.8554-927G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065847 | ||||||
| chr12:132065849
|
T | G | 2 | a0004c0023t0001g0151a0006c0024t0013g0152 | 2 | HG01891.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.8554-925T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065849 | ||||||
| chr12:132065931
|
T | A | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.8554-843T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065931 | ||||||
| chr12:132065945
|
T | C | 1 | a0014c0032t0002g0022 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.8554-829T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065945 | ||||||
| chr12:132065952
|
C | G | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.8554-822C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065952 | ||||||
| chr12:132065956
|
G | A | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.8554-818G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132065956 | ||||||
| chr12:132066072
|
C | T | 1 | a0002c0001t0001g0110 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.8554-702C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132066072 | ||||||
| chr12:132066324
|
A | G | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.8554-450A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132066324 | ||||||
| chr12:132066729
|
G | A | 15 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(12): Show | 15 | HG01175.hp2 HG01243.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.8554-45G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 48/52 | chr12 | 132066729 | ||||||
| chr12:132067120
|
G | A | 1 | a0013c0019t0001g0127 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.8749+151G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 49/52 | chr12 | 132067120 | ||||||
| chr12:132067131
|
G | A | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.8749+162G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 49/52 | chr12 | 132067131 | ||||||
| chr12:132067148
|
A | G | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.8749+179A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 49/52 | chr12 | 132067148 | ||||||
| chr12:132067495
|
G | A | 29 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0082others(26): Show | 29 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(26): Show |
intron_variant | MODIFIER | c.8874+9G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132067495 | ||||||
| chr12:132067585
|
T | C | 16 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.8874+99T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132067585 | ||||||
| chr12:132067743
|
T | A | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.8874+257T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132067743 | ||||||
| chr12:132067949
|
A | T | 104 | a0001c0002t0001g0140a0001c0003t0002g0002a0001c0003t0002g0003others(101): Show | 104 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.8874+463A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132067949 | ||||||
| chr12:132068370
|
A | G | 1 | a0002c0001t0001g0100 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.8874+884A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068370 | ||||||
| chr12:132068492
|
A | G | 1 | a0002c0068t0001g0040 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.8875-1003A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068492 | ||||||
| chr12:132068635
|
G | A | 2 | a0002c0001t0001g0125a0002c0001t0001g0129 | 2 | HG02735.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.8875-860G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068635 | ||||||
| chr12:132068639
|
G | T | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.8875-856G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068639 | ||||||
| chr12:132068915
|
A | C | 1 | a0002c0062t0001g0012 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.8875-580A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068915 | ||||||
| chr12:132068993
|
A | G | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.8875-502A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132068993 | ||||||
| chr12:132069215
|
C | T | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.8875-280C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132069215 | ||||||
| chr12:132069216
|
G | A | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.8875-279G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132069216 | ||||||
| chr12:132069273
|
C | T | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.8875-222C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132069273 | ||||||
| chr12:132069412
|
A | G | 1 | a0001c0026t0002g0201 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.8875-83A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 50/52 | chr12 | 132069412 | ||||||
| chr12:132069667
|
C | T | 6 | a0001c0006t0001g0169a0001c0006t0001g0170a0001c0006t0001g0173others(3): Show | 6 | HG01123.hp2 HG01167.hp2 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.9021+26C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132069667 | ||||||
| chr12:132069919
|
G | A | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9021+278G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132069919 | ||||||
| chr12:132069981
|
T | A | 18 | a0001c0069t0002g0061a0002c0063t0002g0048a0003c0004t0002g0050others(15): Show | 18 | HG01106.hp1 HG01175.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.9021+340T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132069981 | ||||||
| chr12:132070055
|
T | C | 1 | a0003c0013t0006g0054 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.9021+414T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070055 | ||||||
| chr12:132070064
|
C | T | 33 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(30): Show | 33 | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(30): Show |
intron_variant | MODIFIER | c.9021+423C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070064 | ||||||
| chr12:132070157
|
G | T | 98 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(95): Show | 98 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(95): Show |
intron_variant | MODIFIER | c.9021+516G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070157 | ||||||
| chr12:132070327
|
A | G | 1 | a0005c0065t0001g0068 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.9021+686A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070327 | ||||||
| chr12:132070395
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.9021+754G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070395 | ||||||
| chr12:132070480
|
C | G | 3 | a0001c0021t0006g0056a0003c0013t0006g0055a0006c0064t0006g0057 | 3 | HG02559.hp1 HG02970.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.9021+839C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070480 | ||||||
| chr12:132070539
|
G | A | 2 | a0003c0016t0001g0101a0003c0016t0001g0181 | 2 | HG01175.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.9021+898G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070539 | ||||||
| chr12:132070577
|
T | A | 1 | a0001c0046t0001g0159 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.9021+936T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070577 | ||||||
| chr12:132070692
|
T | G | 1 | a0005c0029t0001g0077 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.9021+1051T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070692 | ||||||
| chr12:132070736
|
C | T | 1 | a0001c0056t0001g0172 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.9021+1095C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070736 | ||||||
| chr12:132070902
|
C | T | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9021+1261C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070902 | ||||||
| chr12:132070982
|
G | T | 1 | a0005c0061t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.9021+1341G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132070982 | ||||||
| chr12:132071047
|
T | C | 1 | a0002c0001t0001g0187 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.9021+1406T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071047 | ||||||
| chr12:132071077
|
G | A | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.9021+1436G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071077 | ||||||
| chr12:132071285
|
C | T | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9021+1644C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071285 | ||||||
| chr12:132071887
|
C | T | 1 | a0001c0018t0001g0204 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.9021+2246C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071887 | ||||||
| chr12:132071921
|
C | T | 7 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(4): Show | 7 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.9021+2280C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071921 | ||||||
| chr12:132071947
|
TG | T | 8 | a0007c0012t0001g0030a0007c0012t0001g0031a0007c0012t0001g0032others(5): Show | 8 | HG01934.hp1 HG02258.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.9021+2308delG | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132071947 | |||||
| chr12:132071985
|
A | T | 1 | a0002c0001t0008g0045 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9021+2344A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132071985 | ||||||
| chr12:132072148
|
C | T | 4 | a0002c0001t0003g0133a0005c0007t0003g0134a0005c0007t0003g0135others(1): Show | 4 | HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.9021+2507C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072148 | ||||||
| chr12:132072165
|
T | G | 1 | a0002c0060t0009g0005 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.9021+2524T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072165 | ||||||
| chr12:132072221
|
G | C | 3 | a0009c0011t0001g0041a0009c0011t0001g0043a0009c0011t0001g0044 | 3 | HG00642.hp2 HG01074.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.9021+2580G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072221 | ||||||
| chr12:132072414
|
A | C | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.9021+2773A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072414 | ||||||
| chr12:132072419
|
C | G | 3 | a0001c0039t0001g0084a0003c0016t0001g0101a0003c0016t0001g0181 | 3 | HG01175.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.9021+2778C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072419 | ||||||
| chr12:132072742
|
G | T | 1 | a0002c0001t0001g0092 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.9021+3101G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072742 | ||||||
| chr12:132072891
|
C | T | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.9021+3250C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132072891 | ||||||
| chr12:132073059
|
G | A | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9021+3418G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073059 | ||||||
| chr12:132073228
|
CT | C | 133 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0034others(130): Show | 133 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(130): Show |
intron_variant | MODIFIER | c.9022-3271delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073228 | |||||
| chr12:132073228
|
CTT | C | 5 | a0001c0002t0001g0183a0002c0001t0001g0083a0002c0001t0003g0133others(2): Show | 5 | HG01167.hp1 HG03491.hp2 NA19043.hp2 others(2): Show |
intron_variant | MODIFIER | c.9022-3272_9022-327 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073228 | |||||
| chr12:132073245
|
T | A | 9 | a0002c0001t0001g0039a0004c0009t0004g0078a0004c0009t0004g0079others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.9022-3271T>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073245 | ||||||
| chr12:132073423
|
C | T | 1 | a0001c0002t0001g0124 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.9022-3093C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073423 | ||||||
| chr12:132073459
|
C | CTTTT | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.9022-3046_9022-304 others(8): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(1): Show |
33 | a0001c0002t0001g0140a0001c0006t0001g0169a0001c0006t0001g0170others(30): Show | 33 | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(30): Show |
intron_variant | MODIFIER | c.9022-3050_9022-304 others(12): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(6): Show |
1 | a0004c0009t0004g0078 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9022-3055_9022-304 others(17): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(7): Show |
8 | a0002c0001t0003g0188a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.9022-3056_9022-304 others(18): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(8): Show |
6 | a0001c0066t0001g0073a0002c0001t0003g0130a0002c0022t0003g0131others(3): Show | 6 | HG01243.hp2 HG02258.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(19): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(9): Show |
5 | a0004c0014t0007g0164a0004c0014t0007g0165a0005c0029t0001g0077others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(20): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(10): Show |
1 | a0013c0019t0001g0186 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.9022-3043_9022-304 others(21): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(11): Show |
2 | a0011c0020t0002g0027a0019c0049t0001g0198 | 2 | HG02738.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(22): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(12): Show |
10 | a0001c0021t0006g0056a0003c0004t0002g0053a0003c0004t0002g0058others(7): Show | 10 | HG01106.hp1 HG02145.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(23): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(13): Show |
7 | a0001c0003t0002g0006a0001c0069t0002g0061a0003c0004t0002g0060others(4): Show | 7 | HG01175.hp1 HG02486.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(24): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(14): Show |
17 | a0001c0003t0002g0008a0001c0003t0002g0011a0001c0003t0002g0013others(14): Show | 17 | HG00597.hp2 HG01884.hp2 HG02965.hp2 others(14): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(25): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(15): Show |
14 | a0001c0003t0002g0003a0001c0003t0002g0004a0001c0003t0002g0009others(11): Show | 14 | HG00280.hp1 HG02080.hp1 HG02129.hp2 others(11): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(26): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(16): Show |
4 | a0001c0036t0002g0042a0001c0058t0002g0046a0002c0045t0002g0192others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(27): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(17): Show |
3 | a0001c0003t0002g0002a0001c0021t0002g0047a0016c0067t0001g0195 | 3 | HG00438.hp2 HG01934.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.9022-3043_9022-304 others(28): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073459
|
C | CTTTTTTT others(18): Show |
1 | a0001c0003t0002g0067 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.9022-3043_9022-304 others(29): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073459 | |||||
| chr12:132073556
|
C | T | 1 | a0001c0039t0001g0084 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.9022-2960C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073556 | ||||||
| chr12:132073693
|
C | T | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9022-2823C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073693 | ||||||
| chr12:132073919
|
G | GT | 38 | a0001c0002t0001g0093a0001c0002t0001g0097a0001c0002t0001g0098others(35): Show | 38 | HG00438.hp1 HG00735.hp2 HG01071.hp2 others(35): Show |
intron_variant | MODIFIER | c.9022-2570dupT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073919 | |||||
| chr12:132073919
|
G | GTT | 48 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(45): Show | 48 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(45): Show |
intron_variant | MODIFIER | c.9022-2571_9022-257 others(6): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073919 | |||||
| chr12:132073919
|
G | GTTT | 26 | a0001c0003t0002g0009a0001c0003t0002g0104a0001c0006t0005g0199others(23): Show | 26 | HG01106.hp1 HG01175.hp1 HG01934.hp1 others(23): Show |
intron_variant | MODIFIER | c.9022-2572_9022-257 others(7): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073919 | |||||
| chr12:132073919
|
GT | G | 8 | a0004c0009t0004g0078a0004c0009t0004g0079a0004c0009t0004g0153others(5): Show | 8 | HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.9022-2570delT | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073919 | |||||
| chr12:132073919
|
GTTTTTTT others(4): Show |
G | 2 | a0002c0001t0001g0125a0002c0001t0001g0129 | 2 | HG02735.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.9022-2580_9022-257 others(15): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132073919 | |||||
| chr12:132073920
|
T | G | 1 | a0002c0001t0003g0188 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.9022-2596T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073920 | ||||||
| chr12:132073921
|
T | G | 1 | a0004c0009t0004g0156 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.9022-2595T>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132073921 | ||||||
| chr12:132074085
|
C | T | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.9022-2431C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074085 | ||||||
| chr12:132074147
|
ACACCTGA others(12): Show |
A | 15 | a0001c0069t0002g0061a0003c0004t0002g0053a0003c0004t0002g0058others(12): Show | 15 | HG01106.hp1 HG01175.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.9022-2362_9022-234 others(23): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | 132074147 | |||||
| chr12:132074155
|
C | G | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.9022-2361C>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074155 | ||||||
| chr12:132074328
|
C | T | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9022-2188C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074328 | ||||||
| chr12:132074450
|
C | T | 1 | a0001c0003t0002g0021 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.9022-2066C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074450 | ||||||
| chr12:132074472
|
T | C | 16 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(13): Show | 16 | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.9022-2044T>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074472 | ||||||
| chr12:132074551
|
G | A | 2 | a0005c0029t0001g0077a0005c0034t0001g0182 | 2 | HG02622.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.9022-1965G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074551 | ||||||
| chr12:132074551
|
G | T | 1 | a0005c0065t0001g0068 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.9022-1965G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132074551 | ||||||
| chr12:132075156
|
G | C | 10 | a0003c0008t0001g0160a0004c0009t0004g0078a0004c0009t0004g0079others(7): Show | 10 | HG01167.hp1 HG01169.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.9022-1360G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075156 | ||||||
| chr12:132075223
|
A | G | 67 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(64): Show | 67 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(64): Show |
intron_variant | MODIFIER | c.9022-1293A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075223 | ||||||
| chr12:132075317
|
C | T | 3 | a0004c0014t0007g0163a0004c0014t0007g0164a0004c0014t0007g0165 | 3 | HG01891.hp1 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.9022-1199C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075317 | ||||||
| chr12:132075324
|
G | T | 4 | a0001c0021t0006g0056a0003c0013t0006g0054a0003c0013t0006g0055others(1): Show | 4 | HG02559.hp1 HG02630.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.9022-1192G>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075324 | ||||||
| chr12:132075373
|
G | C | 30 | a0001c0002t0001g0106a0002c0001t0001g0081a0002c0001t0001g0082others(27): Show | 30 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.9022-1143G>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075373 | ||||||
| chr12:132075569
|
G | A | 2 | a0013c0019t0001g0186a0019c0049t0001g0198 | 2 | HG02738.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.9022-947G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075569 | ||||||
| chr12:132075696
|
A | G | 51 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(48): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.9022-820A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075696 | ||||||
| chr12:132075718
|
A | T | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.9022-798A>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132075718 | ||||||
| chr12:132076145
|
C | T | 1 | a0015c0027t0005g0205 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.9022-371C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132076145 | ||||||
| chr12:132076334
|
A | C | 1 | a0001c0002t0001g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.9022-182A>C | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132076334 | ||||||
| chr12:132076412
|
C | T | 51 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(48): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.9022-104C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | chr12 | 132076412 | ||||||
| chr12:132076913
|
C | T | 11 | a0001c0066t0001g0073a0002c0001t0003g0130a0002c0001t0003g0133others(8): Show | 11 | HG01243.hp2 HG02109.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.9099+320C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 52/52 | chr12 | 132076913 | ||||||
| chr12:132076918
|
G | A | 51 | a0001c0003t0002g0002a0001c0003t0002g0003a0001c0003t0002g0004others(48): Show | 51 | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
intron_variant | MODIFIER | c.9099+325G>A | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 52/52 | chr12 | 132076918 | ||||||
| chr12:132077138
|
A | G | 5 | a0001c0006t0005g0199a0001c0006t0005g0200a0001c0018t0005g0203others(2): Show | 5 | HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.9100-263A>G | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 52/52 | chr12 | 132077138 | ||||||
| chr12:132077150
|
C | T | 2 | a0002c0001t0001g0111a0002c0001t0001g0117 | 2 | NA18995.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.9100-251C>T | EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 52/52 | chr12 | 132077150 |