Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 653781 |
|---|---|
| ensemblid | ENSG00000222038.4 |
| hgncid | 37094 |
| symbol | POTEJ |
| name | POTE ankyrin domain family member J |
| refseq_nuc | NM_001277083.2 |
| refseq_prot | NP_001264012.1 |
| ensembl_nuc | ENST00000409602.2 |
| ensembl_prot | ENSP00000387176.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 130611440 |
| end | 130658037 |
| strand | + |
| ver | v1.2 |
| region | chr2:130611440-130658037 |
| region5000 | chr2:130606440-130663037 |
| regionname0 | POTEJ_chr2_130611440_130658037 |
| regionname5000 | POTEJ_chr2_130606440_130663037 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1038 | 44 | 1 | 10 | 22 | 4 | 6 | 12 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0002 | 0/0 | 1038 | 21 | 0 | 0 | 15 | 0 | 6 | 9 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0003 | 0/0 | 1038 | 15 | 0 | 5 | 8 | 0 | 2 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0004 | 0/0 | 1038 | 8 | 6 | 0 | 0 | 0 | 2 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0005 | 0/0 | 1075 | 7 | 1 | 2 | 4 | 0 | 0 | 3 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0006 | 0/0 | 1038 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0007 | 0/0 | 1038 | 4 | 0 | 0 | 3 | 0 | 1 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0008 | 0/0 | 1038 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0009 | 0/0 | 1038 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0010 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0011 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0012 | 0/0 | 67 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0013 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0014 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0015 | 0/0 | 1038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0016 | 0/0 | 1038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0017 | 0/0 | 1038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0018 | 0/0 | 1038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0019 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0020 | 0/0 | 1038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0021 | 0/0 | 1038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0022 | 0/0 | 1038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0023 | 0/0 | 1038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0024 | 0/0 | 1038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0025 | 0/0 | 1038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0026 | 0/0 | 915 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0027 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0028 | 0/0 | 1038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0029 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0030 | 0/0 | 1038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0031 | 0/0 | 1038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0032 | 0/0 | 1038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0033 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 3117 | 43 | 1 | 10 | 21 | 4 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0002 | 0/0 | 3117 | 21 | 0 | 0 | 15 | 0 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0003 | 0/0 | 3117 | 15 | 0 | 5 | 8 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0004 | 0/0 | 3228 | 7 | 1 | 2 | 4 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0005 | 0/0 | 3117 | 5 | 5 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0006 | 0/0 | 3117 | 4 | 0 | 0 | 3 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0007 | 0/0 | 3117 | 3 | 1 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0008 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0009 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0010 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0011 | 0/0 | 3141 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0012 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0013 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0014 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0015 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0016 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0017 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0018 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0019 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0020 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0021 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0022 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0023 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0024 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0025 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0026 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0027 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0028 | 0/0 | 2748 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0029 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0030 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0031 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0032 | 0/0 | 3228 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0033 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0034 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0035 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| c0036 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 254 | 129 | 23 | 22 | 57 | 4 | 22 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| t0002 | 0/0 | 254 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| t0003 | 0/0 | 254 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0007 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0053 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3117 | 43 | 1 | 10 | 21 | 4 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0001c0033 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0002c0002 | 0/0 | 3117 | 21 | 0 | 0 | 15 | 0 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0003c0003 | 0/0 | 3117 | 15 | 0 | 5 | 8 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0004c0005 | 0/0 | 3117 | 5 | 5 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0004c0007 | 0/0 | 3117 | 3 | 1 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0005c0004 | 0/0 | 3228 | 7 | 1 | 2 | 4 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0006c0008 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0006c0035 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0007c0006 | 0/0 | 3117 | 4 | 0 | 0 | 3 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0008c0010 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0009c0009 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0010c0036 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0011c0034 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0012c0011 | 0/0 | 3141 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0013c0015 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0014c0016 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0015c0017 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0016c0018 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0017c0022 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0018c0023 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0019c0025 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0020c0024 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0021c0021 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0022c0019 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0023c0020 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0024c0027 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0025c0026 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0026c0028 | 0/0 | 2748 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0027c0014 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0028c0013 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0029c0029 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0030c0030 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0031c0031 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0032c0012 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0033c0032 | 0/0 | 3228 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 3370 | 42 | 1 | 10 | 20 | 4 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0001c0001t0003 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0001c0033t0001 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0002c0002t0001 | 0/0 | 3370 | 21 | 0 | 0 | 15 | 0 | 6 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0003c0003t0001 | 0/0 | 3370 | 15 | 0 | 5 | 8 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0004c0005t0001 | 0/0 | 3370 | 5 | 5 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0004c0007t0001 | 0/0 | 3370 | 3 | 1 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0005c0004t0001 | 0/0 | 3481 | 7 | 1 | 2 | 4 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0006c0008t0001 | 0/0 | 3370 | 3 | 3 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0006c0035t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0007c0006t0001 | 0/0 | 3370 | 4 | 0 | 0 | 3 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0008c0010t0001 | 0/0 | 3370 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0009c0009t0001 | 0/0 | 3370 | 2 | 2 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0010c0036t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0011c0034t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0012c0011t0001 | 0/0 | 3394 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0013c0015t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0014c0016t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0015c0017t0001 | 0/0 | 3370 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0016c0018t0001 | 0/0 | 3370 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0017c0022t0001 | 0/0 | 3370 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0018c0023t0001 | 0/0 | 3370 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0019c0025t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0020c0024t0001 | 0/0 | 3370 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0021c0021t0001 | 0/0 | 3370 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0022c0019t0001 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0023c0020t0001 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0024c0027t0001 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0025c0026t0001 | 0/0 | 3370 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0026c0028t0001 | 0/0 | 3001 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0027c0014t0002 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0028c0013t0001 | 0/0 | 3370 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0029c0029t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0030c0030t0001 | 0/0 | 3370 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0031c0031t0001 | 0/0 | 3370 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0032c0012t0001 | 0/0 | 3370 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| a0033c0032t0001 | 0/0 | 3481 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | copy fasta | chr2 | 130606440 | 130663037 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0053 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0001c0033t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0002c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0003c0003t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0005t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0005t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0005t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0005t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0005t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0007t0001g0007 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0004c0007t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0005c0004t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0006c0008t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0006c0008t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0006c0008t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0006c0035t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0007c0006t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0007c0006t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0007c0006t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0008c0010t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0008c0010t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0009c0009t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0009c0009t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0010c0036t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0011c0034t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0012c0011t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0013c0015t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0014c0016t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0015c0017t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0016c0018t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0017c0022t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0018c0023t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0019c0025t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0020c0024t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0021c0021t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0022c0019t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0023c0020t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0024c0027t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0025c0026t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0026c0028t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0027c0014t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0028c0013t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0029c0029t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0030c0030t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0031c0031t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0032c0012t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| a0033c0032t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0023 | EUR | GBR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0051 | EUR | GBR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0044 | EUR | FIN | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00423 | hp2 | a0003 | c0003 | t0001 | g0112 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00597 | hp1 | a0005 | c0004 | t0001 | g0121 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00597 | hp2 | a0002 | c0002 | t0001 | g0087 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00733 | hp1 | a0020 | c0024 | t0001 | g0048 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01109 | hp1 | a0016 | c0018 | t0001 | g0047 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0046 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01167 | hp1 | a0003 | c0003 | t0001 | g0109 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0107 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01256 | hp2 | a0017 | c0022 | t0001 | g0073 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01261 | hp2 | a0003 | c0003 | t0001 | g0062 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01358 | hp1 | a0005 | c0004 | t0001 | g0120 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01358 | hp2 | a0003 | c0003 | t0001 | g0058 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01361 | hp2 | a0028 | c0013 | t0001 | g0114 | AMR | CLM | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01884 | hp2 | a0006 | c0008 | t0001 | g0008 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01891 | hp1 | a0027 | c0014 | t0002 | g0072 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01891 | hp2 | a0006 | c0008 | t0001 | g0010 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01952 | hp2 | a0003 | c0003 | t0001 | g0057 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01975 | hp1 | a0003 | c0003 | t0001 | g0108 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02015 | hp1 | a0002 | c0002 | t0001 | g0004 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02015 | hp2 | a0033 | c0032 | t0001 | g0002 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0083 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0111 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02056 | hp1 | a0003 | c0003 | t0001 | g0059 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02056 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02080 | hp2 | a0002 | c0002 | t0001 | g0082 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02135 | hp1 | a0001 | c0033 | t0001 | g0117 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | KHV | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02300 | hp1 | a0026 | c0028 | t0001 | g0039 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02300 | hp2 | a0005 | c0004 | t0001 | g0119 | AMR | PEL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02630 | hp1 | a0009 | c0009 | t0001 | g0076 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02630 | hp2 | a0004 | c0005 | t0001 | g0084 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02647 | hp1 | a0008 | c0010 | t0001 | g0011 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02647 | hp2 | a0010 | c0036 | t0001 | g0014 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02735 | hp1 | a0003 | c0003 | t0001 | g0063 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02886 | hp1 | a0013 | c0015 | t0001 | g0113 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02886 | hp2 | a0011 | c0034 | t0001 | g0025 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02896 | hp1 | a0004 | c0005 | t0001 | g0115 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02896 | hp2 | a0006 | c0035 | t0001 | g0012 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02970 | hp1 | a0005 | c0004 | t0001 | g0027 | AFR | ESN | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02970 | hp2 | a0008 | c0010 | t0001 | g0013 | AFR | ESN | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03209 | hp1 | a0019 | c0025 | t0001 | g0098 | AFR | MSL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03209 | hp2 | a0009 | c0009 | t0001 | g0103 | AFR | MSL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03486 | hp1 | a0004 | c0005 | t0001 | g0016 | AFR | MSL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03486 | hp2 | a0004 | c0005 | t0001 | g0071 | AFR | MSL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03490 | hp1 | a0004 | c0007 | t0001 | g0007 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03490 | hp2 | a0032 | c0012 | t0001 | g0104 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03491 | hp1 | a0002 | c0002 | t0001 | g0005 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0092 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03492 | hp1 | a0004 | c0007 | t0001 | g0007 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0005 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03540 | hp1 | a0030 | c0030 | t0001 | g0074 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03540 | hp2 | a0029 | c0029 | t0001 | g0075 | AFR | GWD | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03654 | hp2 | a0021 | c0021 | t0001 | g0086 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0105 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0093 | SAS | PJL | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03831 | hp1 | a0015 | c0017 | t0001 | g0095 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03831 | hp2 | a0007 | c0006 | t0001 | g0085 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0097 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03834 | hp2 | a0025 | c0026 | t0001 | g0101 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0079 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0021 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0096 | SAS | STU | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG04115 | hp2 | a0018 | c0023 | t0001 | g0028 | SAS | STU | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG04184 | hp1 | a0003 | c0003 | t0001 | g0060 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0080 | SAS | BEB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | CHB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18612 | hp2 | a0012 | c0011 | t0001 | g0078 | EAS | CHB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18747 | hp1 | a0002 | c0002 | t0001 | g0094 | EAS | CHB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18747 | hp2 | a0007 | c0006 | t0001 | g0068 | EAS | CHB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18945 | hp1 | a0003 | c0003 | t0001 | g0055 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18947 | hp2 | a0005 | c0004 | t0001 | g0002 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18950 | hp2 | a0002 | c0002 | t0001 | g0089 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18951 | hp2 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18952 | hp1 | a0003 | c0003 | t0001 | g0061 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18952 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18953 | hp1 | a0023 | c0020 | t0001 | g0102 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18953 | hp2 | a0022 | c0019 | t0001 | g0081 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18971 | hp1 | a0003 | c0003 | t0001 | g0067 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18975 | hp1 | a0031 | c0031 | t0001 | g0056 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18979 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18982 | hp1 | a0002 | c0002 | t0001 | g0019 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0122 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0035 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18994 | hp1 | a0005 | c0004 | t0001 | g0118 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA18994 | hp2 | a0003 | c0003 | t0001 | g0065 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19004 | hp1 | a0024 | c0027 | t0001 | g0032 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19060 | hp1 | a0007 | c0006 | t0001 | g0001 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0066 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0088 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19067 | hp2 | a0002 | c0002 | t0001 | g0077 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19079 | hp1 | a0003 | c0003 | t0001 | g0064 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19083 | hp1 | a0007 | c0006 | t0001 | g0001 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19083 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19084 | hp2 | a0005 | c0004 | t0001 | g0002 | EAS | JPT | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19240 | hp1 | a0004 | c0007 | t0001 | g0070 | AFR | YRI | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| NA19240 | hp2 | a0014 | c0016 | t0001 | g0110 | AFR | YRI | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02559 | hp1 | a0004 | c0005 | t0001 | g0015 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| HG02559 | hp2 | a0006 | c0008 | t0001 | g0009 | AFR | ACB | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0053 | REF | REF | POTEJ_chr2_130606440_130663037 | POTEJ | chr2 | 130606440 | 130663037 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130611617
|
C | T | 4 | a0006a0008a0010others(1): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
missense_variant | MODERATE | c.85C>T | p.Arg29Cys | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 178/3370 | 85/3117 | 29/1038 | chr2 | 130611617 | ||
| chr2:130611679
|
G | C | 4 | a0006a0008a0010others(1): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
missense_variant | MODERATE | c.147G>C | p.Gln49His | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 240/3370 | 147/3117 | 49/1038 | chr2 | 130611679 | ||
| chr2:130611689
|
A | G | 4 | a0006a0008a0010others(1): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
missense_variant | MODERATE | c.157A>G | p.Thr53Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 250/3370 | 157/3117 | 53/1038 | chr2 | 130611689 | ||
| chr2:130611700
|
A | ACTCAGGA others(104): Show |
2 | a0005a0033 | 8 | HG00597.hp1 HG01358.hp1 HG02015.hp2 others(5): Show |
disruptive_inframe_insertion | MODERATE | c.224_225insTGGCAAGA others(103): Show |
p.Ser75_Gly76insGlyL others(107): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 318/3370 | 225/3117 | 75/1038 | INFO_REALIGN_3_PRIME | chr2 | 130611700 | |
| chr2:130611710
|
A | AAGATGGG others(17): Show |
1 | a0012 | 1 | NA18612.hp2 | stop_gained&disruptive_inframe_insertion | HIGH | c.179_202dupAGATGGGC others(16): Show |
p.His67_Cys68insTerM others(20): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 296/3370 | 203/3117 | 68/1038 | INFO_REALIGN_3_PRIME | chr2 | 130611710 | |
| chr2:130611793
|
C | A | 1 | a0032 | 1 | HG03490.hp2 | missense_variant | MODERATE | c.261C>A | p.Asp87Glu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 354/3370 | 261/3117 | 87/1038 | chr2 | 130611793 | ||
| chr2:130620121
|
C | T | 2 | a0003a0031 | 16 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(13): Show |
missense_variant | MODERATE | c.776C>T | p.Ala259Val | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/15 | 869/3370 | 776/3117 | 259/1038 | chr2 | 130620121 | ||
| chr2:130632494
|
A | G | 3 | a0011a0029a0030 | 3 | HG02886.hp2 HG03540.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.1136A>G | p.Glu379Gly | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/15 | 1229/3370 | 1136/3117 | 379/1038 | chr2 | 130632494 | ||
| chr2:130632548
|
G | C | 3 | a0008a0010a0028 | 4 | HG01361.hp2 HG02647.hp1 HG02647.hp2 others(1): Show |
missense_variant | MODERATE | c.1190G>C | p.Ser397Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/15 | 1283/3370 | 1190/3117 | 397/1038 | chr2 | 130632548 | ||
| chr2:130632571
|
G | A | 1 | a0027 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.1213G>A | p.Gly405Ser | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/15 | 1306/3370 | 1213/3117 | 405/1038 | chr2 | 130632571 | ||
| chr2:130633879
|
CAGTTAGT others(13630): Show |
C | 1 | a0026 | 1 | HG02300.hp1 | exon_loss_variant | HIGH | c.1298+1255_1667+123 others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | 130633879 | |||||
| chr2:130646250
|
G | A | 2 | a0013a0014 | 2 | HG02886.hp1 NA19240.hp2 |
missense_variant | MODERATE | c.1607G>A | p.Arg536Lys | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/15 | 1700/3370 | 1607/3117 | 536/1038 | chr2 | 130646250 | ||
| chr2:130646253
|
A | G | 1 | a0009 | 2 | HG02630.hp1 HG03209.hp2 |
missense_variant | MODERATE | c.1610A>G | p.Lys537Arg | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/15 | 1703/3370 | 1610/3117 | 537/1038 | chr2 | 130646253 | ||
| chr2:130654963
|
G | C | 1 | a0015 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.1710G>C | p.Gln570His | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/15 | 1803/3370 | 1710/3117 | 570/1038 | chr2 | 130654963 | ||
| chr2:130655032
|
G | A | 1 | a0033 | 1 | HG02015.hp2 | missense_variant | MODERATE | c.1779G>A | p.Met593Ile | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/15 | 1872/3370 | 1779/3117 | 593/1038 | chr2 | 130655032 | ||
| chr2:130656574
|
G | A | 4 | a0010a0011a0016others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
missense_variant | MODERATE | c.1814G>A | p.Arg605Lys | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1907/3370 | 1814/3117 | 605/1038 | chr2 | 130656574 | ||
| chr2:130656579
|
T | A | 2 | a0016a0029 | 2 | HG01109.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.1819T>A | p.Phe607Ile | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1912/3370 | 1819/3117 | 607/1038 | chr2 | 130656579 | ||
| chr2:130656585
|
C | A | 2 | a0003a0007 | 19 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(16): Show |
missense_variant | MODERATE | c.1825C>A | p.His609Asn | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1918/3370 | 1825/3117 | 609/1038 | chr2 | 130656585 | ||
| chr2:130656598
|
T | C | 4 | a0010a0011a0016others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
missense_variant | MODERATE | c.1838T>C | p.Met613Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1931/3370 | 1838/3117 | 613/1038 | chr2 | 130656598 | ||
| chr2:130656603
|
C | T | 3 | a0014a0024a0025 | 3 | HG03834.hp2 NA19004.hp1 NA19240.hp2 |
missense_variant | MODERATE | c.1843C>T | p.Arg615Trp | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1936/3370 | 1843/3117 | 615/1038 | chr2 | 130656603 | ||
| chr2:130656604
|
G | A | 1 | a0010 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.1844G>A | p.Arg615Gln | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1937/3370 | 1844/3117 | 615/1038 | chr2 | 130656604 | ||
| chr2:130656644
|
G | A | 2 | a0010a0011 | 2 | HG02647.hp2 HG02886.hp2 |
missense_variant | MODERATE | c.1884G>A | p.Met628Ile | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1977/3370 | 1884/3117 | 628/1038 | chr2 | 130656644 | ||
| chr2:130656648
|
C | T | 1 | a0010 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.1888C>T | p.His630Tyr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1981/3370 | 1888/3117 | 630/1038 | chr2 | 130656648 | ||
| chr2:130656666
|
A | G | 4 | a0010a0011a0016others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
missense_variant | MODERATE | c.1906A>G | p.Lys636Glu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 1999/3370 | 1906/3117 | 636/1038 | chr2 | 130656666 | ||
| chr2:130656706
|
A | G | 2 | a0016a0029 | 2 | HG01109.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.1946A>G | p.Lys649Arg | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2039/3370 | 1946/3117 | 649/1038 | chr2 | 130656706 | ||
| chr2:130656765
|
G | A | 6 | a0002a0012a0021others(3): Show | 26 | HG00597.hp2 HG02015.hp1 HG02027.hp1 others(23): Show |
missense_variant | MODERATE | c.2005G>A | p.Ala669Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2098/3370 | 2005/3117 | 669/1038 | chr2 | 130656765 | ||
| chr2:130656837
|
G | C | 1 | a0017 | 1 | HG01256.hp2 | missense_variant | MODERATE | c.2077G>C | p.Val693Leu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2170/3370 | 2077/3117 | 693/1038 | chr2 | 130656837 | ||
| chr2:130656858
|
T | C | 7 | a0010a0011a0014others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
missense_variant | MODERATE | c.2098T>C | p.Cys700Arg | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2191/3370 | 2098/3117 | 700/1038 | chr2 | 130656858 | ||
| chr2:130656970
|
G | A | 1 | a0018 | 1 | HG04115.hp2 | missense_variant | MODERATE | c.2210G>A | p.Gly737Asp | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2303/3370 | 2210/3117 | 737/1038 | chr2 | 130656970 | ||
| chr2:130657056
|
A | G | 2 | a0016a0029 | 2 | HG01109.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.2296A>G | p.Ile766Val | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2389/3370 | 2296/3117 | 766/1038 | chr2 | 130657056 | ||
| chr2:130657074
|
C | A | 2 | a0016a0029 | 2 | HG01109.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.2314C>A | p.Pro772Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2407/3370 | 2314/3117 | 772/1038 | chr2 | 130657074 | ||
| chr2:130657096
|
G | A | 4 | a0010a0011a0014others(1): Show | 4 | HG02647.hp2 HG02886.hp2 NA19004.hp1 others(1): Show |
missense_variant | MODERATE | c.2336G>A | p.Arg779His | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2429/3370 | 2336/3117 | 779/1038 | chr2 | 130657096 | ||
| chr2:130657164
|
A | G | 7 | a0010a0011a0014others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
missense_variant | MODERATE | c.2404A>G | p.Met802Val | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2497/3370 | 2404/3117 | 802/1038 | chr2 | 130657164 | ||
| chr2:130657250
|
T | G | 1 | a0011 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.2490T>G | p.Asp830Glu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2583/3370 | 2490/3117 | 830/1038 | chr2 | 130657250 | ||
| chr2:130657305
|
A | C | 14 | a0002a0004a0011others(11): Show | 41 | HG00597.hp2 HG01109.hp1 HG01256.hp2 others(38): Show |
missense_variant | MODERATE | c.2545A>C | p.Thr849Pro | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2638/3370 | 2545/3117 | 849/1038 | chr2 | 130657305 | ||
| chr2:130657374
|
G | A | 1 | a0020 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.2614G>A | p.Val872Met | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2707/3370 | 2614/3117 | 872/1038 | chr2 | 130657374 | ||
| chr2:130657402
|
A | T | 3 | a0014a0024a0025 | 3 | HG03834.hp2 NA19004.hp1 NA19240.hp2 |
missense_variant | MODERATE | c.2642A>T | p.Tyr881Phe | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2735/3370 | 2642/3117 | 881/1038 | chr2 | 130657402 | ||
| chr2:130657435
|
T | C | 7 | a0010a0011a0014others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
missense_variant | MODERATE | c.2675T>C | p.Met892Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2768/3370 | 2675/3117 | 892/1038 | chr2 | 130657435 | ||
| chr2:130657436
|
G | A | 1 | a0010 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.2676G>A | p.Met892Ile | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2769/3370 | 2676/3117 | 892/1038 | chr2 | 130657436 | ||
| chr2:130657438
|
T | C | 4 | a0010a0011a0016others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
missense_variant | MODERATE | c.2678T>C | p.Val893Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2771/3370 | 2678/3117 | 893/1038 | chr2 | 130657438 | ||
| chr2:130657500
|
A | G | 7 | a0010a0011a0014others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
missense_variant | MODERATE | c.2740A>G | p.Ser914Gly | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2833/3370 | 2740/3117 | 914/1038 | chr2 | 130657500 | ||
| chr2:130657509
|
T | C | 6 | a0006a0008a0010others(3): Show | 10 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
missense_variant | MODERATE | c.2749T>C | p.Trp917Arg | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2842/3370 | 2749/3117 | 917/1038 | chr2 | 130657509 | ||
| chr2:130657567
|
G | A | 2 | a0016a0029 | 2 | HG01109.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.2807G>A | p.Gly936Asp | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2900/3370 | 2807/3117 | 936/1038 | chr2 | 130657567 | ||
| chr2:130657714
|
C | T | 1 | a0021 | 1 | HG03654.hp2 | missense_variant | MODERATE | c.2954C>T | p.Pro985Leu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 3047/3370 | 2954/3117 | 985/1038 | chr2 | 130657714 | ||
| chr2:130657764
|
G | A | 4 | a0014a0019a0022others(1): Show | 4 | HG03209.hp1 NA18953.hp2 NA19004.hp1 others(1): Show |
missense_variant | MODERATE | c.3004G>A | p.Val1002Met | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 3097/3370 | 3004/3117 | 1002/1038 | chr2 | 130657764 | ||
| chr2:130657874
|
C | G | 5 | a0006a0011a0016others(2): Show | 8 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
missense_variant | MODERATE | c.3114C>G | p.Phe1038Leu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 3207/3370 | 3114/3117 | 1038/1038 | chr2 | 130657874 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130611646
|
C | T | 4 | a0006c0008a0006c0035a0008c0010others(1): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
synonymous_variant | LOW | c.114C>T | p.Ser38Ser | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 207/3370 | 114/3117 | 38/1038 | chr2 | 130611646 | ||
| chr2:130611700
|
A | G | 5 | a0006c0008a0006c0035a0008c0010others(2): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
synonymous_variant | LOW | c.168A>G | p.Thr56Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 261/3370 | 168/3117 | 56/1038 | chr2 | 130611700 | ||
| chr2:130611757
|
C | T | 1 | a0001c0033 | 1 | HG02135.hp1 | synonymous_variant | LOW | c.225C>T | p.Ser75Ser | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 318/3370 | 225/3117 | 75/1038 | chr2 | 130611757 | ||
| chr2:130611877
|
C | T | 1 | a0010c0036 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.345C>T | p.Val115Val | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 438/3370 | 345/3117 | 115/1038 | chr2 | 130611877 | ||
| chr2:130616847
|
G | A | 1 | a0010c0036 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.468G>A | p.Leu156Leu | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 2/15 | 561/3370 | 468/3117 | 156/1038 | chr2 | 130616847 | ||
| chr2:130617067
|
C | T | 1 | a0010c0036 | 1 | HG02647.hp2 | splice_region_variant&synonymous_variant | LOW | c.528C>T | p.Ala176Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/15 | 621/3370 | 528/3117 | 176/1038 | chr2 | 130617067 | ||
| chr2:130620134
|
A | G | 36 | a0001c0001a0001c0033a0002c0002others(33): Show | 131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
synonymous_variant | LOW | c.789A>G | p.Ala263Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/15 | 882/3370 | 789/3117 | 263/1038 | chr2 | 130620134 | ||
| chr2:130621568
|
G | A | 3 | a0006c0008a0006c0035a0008c0010 | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
synonymous_variant | LOW | c.909G>A | p.Thr303Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/15 | 1002/3370 | 909/3117 | 303/1038 | chr2 | 130621568 | ||
| chr2:130656764
|
C | T | 1 | a0011c0034 | 1 | HG02886.hp2 | synonymous_variant | LOW | c.2004C>T | p.Thr668Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2097/3370 | 2004/3117 | 668/1038 | chr2 | 130656764 | ||
| chr2:130656767
|
T | C | 3 | a0010c0036a0011c0034a0029c0029 | 3 | HG02647.hp2 HG02886.hp2 HG03540.hp2 |
synonymous_variant | LOW | c.2007T>C | p.Ala669Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2100/3370 | 2007/3117 | 669/1038 | chr2 | 130656767 | ||
| chr2:130656821
|
C | T | 3 | a0014c0016a0024c0027a0025c0026 | 3 | HG03834.hp2 NA19004.hp1 NA19240.hp2 |
synonymous_variant | LOW | c.2061C>T | p.Asp687Asp | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2154/3370 | 2061/3117 | 687/1038 | chr2 | 130656821 | ||
| chr2:130656932
|
G | A | 2 | a0016c0018a0029c0029 | 2 | HG01109.hp1 HG03540.hp2 |
synonymous_variant | LOW | c.2172G>A | p.Lys724Lys | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2265/3370 | 2172/3117 | 724/1038 | chr2 | 130656932 | ||
| chr2:130657025
|
C | T | 1 | a0010c0036 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.2265C>T | p.Asn755Asn | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2358/3370 | 2265/3117 | 755/1038 | chr2 | 130657025 | ||
| chr2:130657040
|
C | T | 4 | a0010c0036a0011c0034a0016c0018others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
synonymous_variant | LOW | c.2280C>T | p.Ala760Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2373/3370 | 2280/3117 | 760/1038 | chr2 | 130657040 | ||
| chr2:130657043
|
C | T | 2 | a0014c0016a0024c0027 | 2 | NA19004.hp1 NA19240.hp2 |
synonymous_variant | LOW | c.2283C>T | p.Pro761Pro | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2376/3370 | 2283/3117 | 761/1038 | chr2 | 130657043 | ||
| chr2:130657067
|
C | T | 3 | a0006c0008a0006c0035a0008c0010 | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
synonymous_variant | LOW | c.2307C>T | p.Thr769Thr | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2400/3370 | 2307/3117 | 769/1038 | chr2 | 130657067 | ||
| chr2:130657085
|
C | T | 2 | a0016c0018a0029c0029 | 2 | HG01109.hp1 HG03540.hp2 |
synonymous_variant | LOW | c.2325C>T | p.Pro775Pro | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2418/3370 | 2325/3117 | 775/1038 | chr2 | 130657085 | ||
| chr2:130657163
|
C | T | 1 | a0011c0034 | 1 | HG02886.hp2 | synonymous_variant | LOW | c.2403C>T | p.Ala801Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2496/3370 | 2403/3117 | 801/1038 | chr2 | 130657163 | ||
| chr2:130657478
|
C | T | 1 | a0010c0036 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.2718C>T | p.Pro906Pro | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2811/3370 | 2718/3117 | 906/1038 | chr2 | 130657478 | ||
| chr2:130657529
|
G | A | 2 | a0016c0018a0029c0029 | 2 | HG01109.hp1 HG03540.hp2 |
synonymous_variant | LOW | c.2769G>A | p.Ala923Ala | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2862/3370 | 2769/3117 | 923/1038 | chr2 | 130657529 | ||
| chr2:130657652
|
C | T | 5 | a0004c0007a0010c0036a0016c0018others(2): Show | 7 | HG01109.hp1 HG01256.hp2 HG02647.hp2 others(4): Show |
synonymous_variant | LOW | c.2892C>T | p.Gly964Gly | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 2985/3370 | 2892/3117 | 964/1038 | chr2 | 130657652 | ||
| chr2:130657772
|
C | T | 2 | a0006c0008a0008c0010 | 5 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(2): Show |
synonymous_variant | LOW | c.3012C>T | p.Val1004Val | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 3105/3370 | 3012/3117 | 1004/1038 | chr2 | 130657772 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130611515
|
C | G | 1 | a0001c0001t0003 | 1 | NA18983.hp2 | 5_prime_UTR_variant | MODIFIER | c.-18C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/15 | 18 | chr2 | 130611515 | |||||
| chr2:130658004
|
G | T | 1 | a0027c0014t0002 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*127G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 15/15 | 127 | chr2 | 130658004 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130612063
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.410+121G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612063 | ||||||
| chr2:130612150
|
A | G | 1 | a0002c0002t0001g0122 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.410+208A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612150 | ||||||
| chr2:130612388
|
C | T | 9 | a0001c0001t0001g0116a0001c0033t0001g0117a0004c0005t0001g0115others(6): Show | 10 | HG00597.hp1 HG01358.hp1 HG02015.hp2 others(7): Show |
intron_variant | MODIFIER | c.410+446C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612388 | ||||||
| chr2:130612480
|
T | C | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.410+538T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612480 | ||||||
| chr2:130612585
|
C | G | 1 | a0028c0013t0001g0114 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.410+643C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612585 | ||||||
| chr2:130612662
|
C | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.410+720C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612662 | ||||||
| chr2:130612697
|
A | T | 8 | a0001c0033t0001g0117a0005c0004t0001g0002a0005c0004t0001g0118others(5): Show | 9 | HG00597.hp1 HG01358.hp1 HG02015.hp2 others(6): Show |
intron_variant | MODIFIER | c.410+755A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612697 | ||||||
| chr2:130612712
|
A | G | 1 | a0003c0003t0001g0112 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.410+770A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612712 | ||||||
| chr2:130612762
|
CA | C | 10 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0107others(7): Show | 10 | HG01167.hp1 HG01256.hp1 HG01975.hp1 others(7): Show |
intron_variant | MODIFIER | c.410+842delA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130612762 | |||||
| chr2:130612795
|
T | C | 2 | a0004c0005t0001g0015a0004c0005t0001g0016 | 2 | HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.410+853T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612795 | ||||||
| chr2:130612898
|
G | A | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | NA18979.hp2 NA18982.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.410+956G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130612898 | ||||||
| chr2:130613028
|
C | A | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.410+1086C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613028 | ||||||
| chr2:130613200
|
AT | A | 2 | a0001c0001t0001g0022a0001c0001t0001g0023 | 2 | HG00099.hp1 HG00639.hp1 |
intron_variant | MODIFIER | c.410+1259delT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613200 | ||||||
| chr2:130613221
|
C | T | 1 | a0002c0002t0001g0122 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.410+1279C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613221 | ||||||
| chr2:130613226
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.410+1284A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613226 | ||||||
| chr2:130613247
|
T | C | 2 | a0001c0033t0001g0117a0013c0015t0001g0113 | 2 | HG02135.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.410+1305T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613247 | ||||||
| chr2:130613255
|
C | T | 1 | a0004c0007t0001g0007 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.410+1313C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613255 | ||||||
| chr2:130613255
|
CACATATA others(29): Show |
C | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.410+1315_410+1350d others(38): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613255 | |||||
| chr2:130613255
|
CACATATA others(53): Show |
C | 1 | a0001c0033t0001g0117 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.410+1315_410+1374d others(62): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613255 | |||||
| chr2:130613255
|
CACATATA others(59): Show |
C | 1 | a0009c0009t0001g0103 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.410+1320_410+1385d others(68): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613255 | |||||
| chr2:130613257
|
C | CATATATA others(17): Show |
1 | a0001c0001t0001g0026 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.410+1380_410+1403d others(26): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613257 | |||||
| chr2:130613257
|
CATATATA others(17): Show |
C | 47 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(44): Show | 50 | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.410+1380_410+1403d others(26): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613257 | |||||
| chr2:130613257
|
CATATATA others(41): Show |
C | 1 | a0025c0026t0001g0101 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.410+1356_410+1403d others(50): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613257 | |||||
| chr2:130613258
|
ATATATAC others(15): Show |
A | 1 | a0004c0007t0001g0007 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.410+1323_410+1344d others(24): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613258 | |||||
| chr2:130613265
|
CAT | C | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1331_410+1332d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613265 | |||||
| chr2:130613265
|
CATATATA others(43): Show |
C | 3 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0035t0001g0012 | 3 | HG01884.hp2 HG02559.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.410+1331_410+1380d others(52): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613265 | |||||
| chr2:130613266
|
ATATATAT others(55): Show |
A | 1 | a0002c0002t0001g0024 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.410+1338_410+1399d others(64): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613266 | |||||
| chr2:130613281
|
T | C | 1 | a0004c0007t0001g0007 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.410+1339T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613281 | ||||||
| chr2:130613290
|
A | G | 1 | a0002c0002t0001g0019 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.410+1348A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613290 | ||||||
| chr2:130613298
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1356A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613298 | ||||||
| chr2:130613299
|
C | T | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1357C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613299 | ||||||
| chr2:130613300
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1358A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613300 | ||||||
| chr2:130613302
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1360A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613302 | ||||||
| chr2:130613307
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.410+1365T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613307 | ||||||
| chr2:130613312
|
ACATATAT others(9): Show |
A | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1371_410+1386d others(18): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613312 | ||||||
| chr2:130613318
|
A | G | 1 | a0023c0020t0001g0102 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.410+1376A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613318 | ||||||
| chr2:130613320
|
ATACATAT others(19): Show |
A | 19 | a0002c0002t0001g0066a0003c0003t0001g0001a0003c0003t0001g0055others(16): Show | 20 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.410+1380_410+1405d others(28): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613320 | |||||
| chr2:130613322
|
A | G | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1380A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613322 | ||||||
| chr2:130613323
|
C | T | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1381C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613323 | ||||||
| chr2:130613324
|
A | G | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1382A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613324 | ||||||
| chr2:130613326
|
A | G | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1384A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613326 | ||||||
| chr2:130613328
|
G | GTA | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1393_410+1394d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613328 | |||||
| chr2:130613331
|
T | C | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1389T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613331 | ||||||
| chr2:130613337
|
C | T | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1395C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613337 | ||||||
| chr2:130613338
|
A | G | 2 | a0004c0005t0001g0015a0004c0005t0001g0016 | 2 | HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.410+1396A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613338 | ||||||
| chr2:130613340
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1398A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613340 | ||||||
| chr2:130613342
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1400A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613342 | ||||||
| chr2:130613344
|
A | G | 3 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013 | 3 | HG01891.hp2 HG02647.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.410+1402A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613344 | ||||||
| chr2:130613354
|
A | G | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1412A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613354 | ||||||
| chr2:130613356
|
A | G | 2 | a0011c0034t0001g0025a0013c0015t0001g0113 | 2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.410+1414A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613356 | ||||||
| chr2:130613358
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.410+1416A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613358 | ||||||
| chr2:130613363
|
C | T | 5 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013others(2): Show | 5 | HG01891.hp2 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.410+1421C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613363 | ||||||
| chr2:130613370
|
ATGTGTGT others(3): Show |
A | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.410+1434_410+1443d others(12): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613370 | |||||
| chr2:130613370
|
ATGTGTGT others(5): Show |
A | 4 | a0006c0008t0001g0010a0008c0010t0001g0011a0008c0010t0001g0013others(1): Show | 4 | HG01891.hp2 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.410+1432_410+1443d others(14): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613370 | |||||
| chr2:130613374
|
G | C | 1 | a0001c0001t0001g0020 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.410+1432G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613374 | ||||||
| chr2:130613382
|
G | A | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.410+1440G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613382 | ||||||
| chr2:130613382
|
G | GTATATAT others(3): Show |
1 | a0001c0033t0001g0117 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.410+1441_410+1442i others(12): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613382 | |||||
| chr2:130613384
|
G | A | 6 | a0001c0033t0001g0117a0006c0008t0001g0010a0008c0010t0001g0011others(3): Show | 6 | HG01891.hp2 HG02135.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.410+1442G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613384 | ||||||
| chr2:130613384
|
G | GTA | 16 | a0001c0001t0001g0006a0001c0001t0001g0050a0001c0001t0001g0051others(13): Show | 18 | HG00099.hp2 HG00609.hp2 HG01256.hp1 others(15): Show |
intron_variant | MODIFIER | c.410+1467_410+1468d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613384
|
G | GTATA | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.410+1465_410+1468d others(6): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613384
|
G | GTATATAT others(5): Show |
2 | a0006c0008t0001g0008a0006c0035t0001g0012 | 2 | HG01884.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.410+1457_410+1468d others(14): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613384
|
G | GTATATAT others(9): Show |
1 | a0006c0008t0001g0009 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.410+1453_410+1468d others(18): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613384
|
G | GTGTATAT others(3): Show |
1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.410+1443_410+1444i others(12): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613384
|
GTA | G | 2 | a0001c0001t0001g0069a0005c0004t0001g0027 | 2 | HG00423.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.410+1467_410+1468d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130613384 | |||||
| chr2:130613416
|
T | G | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.410+1474T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613416 | ||||||
| chr2:130613634
|
C | A | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.410+1692C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613634 | ||||||
| chr2:130613650
|
T | C | 10 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.410+1708T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613650 | ||||||
| chr2:130613682
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.410+1740T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613682 | ||||||
| chr2:130613686
|
C | G | 8 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.410+1744C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613686 | ||||||
| chr2:130613704
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.410+1762A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130613704 | ||||||
| chr2:130614112
|
G | A | 8 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.410+2170G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614112 | ||||||
| chr2:130614113
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.410+2171C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614113 | ||||||
| chr2:130614133
|
A | G | 10 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.410+2191A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614133 | ||||||
| chr2:130614165
|
AAG | A | 8 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.410+2225_410+2226d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130614165 | |||||
| chr2:130614167
|
GA | G | 5 | a0001c0001t0001g0020a0001c0001t0001g0049a0001c0001t0001g0106others(2): Show | 5 | HG00639.hp2 HG01167.hp2 HG01975.hp2 others(2): Show |
intron_variant | MODIFIER | c.410+2241delA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | 130614167 | |||||
| chr2:130614170
|
A | G | 8 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.410+2228A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614170 | ||||||
| chr2:130614365
|
G | A | 3 | a0004c0005t0001g0071a0004c0005t0001g0115a0011c0034t0001g0025 | 3 | HG02886.hp2 HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.410+2423G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614365 | ||||||
| chr2:130614416
|
G | C | 2 | a0001c0033t0001g0117a0013c0015t0001g0113 | 2 | HG02135.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.411-2374G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614416 | ||||||
| chr2:130614512
|
G | A | 1 | a0005c0004t0001g0118 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.411-2278G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614512 | ||||||
| chr2:130614524
|
T | C | 10 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(7): Show | 10 | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.411-2266T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614524 | ||||||
| chr2:130614619
|
G | A | 10 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.411-2171G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614619 | ||||||
| chr2:130614640
|
T | A | 1 | a0001c0001t0001g0116 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.411-2150T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130614640 | ||||||
| chr2:130615031
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.411-1759C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615031 | ||||||
| chr2:130615172
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.411-1618G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615172 | ||||||
| chr2:130615412
|
A | C | 1 | a0020c0024t0001g0048 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.411-1378A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615412 | ||||||
| chr2:130615499
|
T | C | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.411-1291T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615499 | ||||||
| chr2:130615553
|
G | A | 15 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0033t0001g0117others(12): Show | 15 | HG00639.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.411-1237G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615553 | ||||||
| chr2:130615621
|
A | G | 12 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0106others(9): Show | 12 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.411-1169A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615621 | ||||||
| chr2:130615629
|
A | G | 7 | a0001c0001t0001g0021a0001c0001t0001g0092a0001c0001t0001g0093others(4): Show | 7 | HG01975.hp2 HG02135.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.411-1161A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615629 | ||||||
| chr2:130615646
|
C | T | 12 | a0001c0001t0001g0106a0001c0033t0001g0117a0006c0008t0001g0008others(9): Show | 12 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.411-1144C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615646 | ||||||
| chr2:130615651
|
G | A | 11 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(8): Show | 11 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(8): Show |
intron_variant | MODIFIER | c.411-1139G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615651 | ||||||
| chr2:130615673
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031 | 3 | HG00609.hp1 HG02074.hp2 NA18979.hp1 |
intron_variant | MODIFIER | c.411-1117G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615673 | ||||||
| chr2:130615699
|
C | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.411-1091C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615699 | ||||||
| chr2:130615712
|
A | G | 11 | a0001c0001t0001g0023a0001c0033t0001g0117a0003c0003t0001g0067others(8): Show | 11 | HG00099.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.411-1078A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615712 | ||||||
| chr2:130615720
|
A | G | 1 | a0001c0001t0001g0023 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.411-1070A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615720 | ||||||
| chr2:130615721
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.411-1069T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615721 | ||||||
| chr2:130615771
|
A | G | 1 | a0023c0020t0001g0102 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.411-1019A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615771 | ||||||
| chr2:130615803
|
T | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.411-987T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615803 | ||||||
| chr2:130615813
|
C | G | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0033t0001g0117others(9): Show | 12 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.411-977C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615813 | ||||||
| chr2:130615890
|
G | A | 10 | a0001c0033t0001g0117a0006c0008t0001g0008a0006c0008t0001g0009others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.411-900G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615890 | ||||||
| chr2:130615974
|
G | C | 1 | a0002c0002t0001g0017 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.411-816G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130615974 | ||||||
| chr2:130616183
|
A | G | 5 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(2): Show | 5 | HG02735.hp2 HG03491.hp2 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.411-607A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130616183 | ||||||
| chr2:130616220
|
C | G | 15 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0033t0001g0117others(12): Show | 15 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.411-570C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130616220 | ||||||
| chr2:130616437
|
A | G | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0033t0001g0117others(11): Show | 14 | HG00639.hp2 HG00733.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.411-353A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130616437 | ||||||
| chr2:130616618
|
T | C | 21 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0090others(18): Show | 21 | HG00639.hp2 HG00733.hp1 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.411-172T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | chr2 | 130616618 | ||||||
| chr2:130616905
|
G | T | 1 | a0002c0002t0001g0089 | 1 | NA18950.hp2 | splice_donor_variant&intron_variant | HIGH | c.525+1G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 2/14 | chr2 | 130616905 | ||||||
| chr2:130616986
|
T | C | 1 | a0024c0027t0001g0032 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.526-79T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 2/14 | chr2 | 130616986 | ||||||
| chr2:130617515
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.699+277C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130617515 | ||||||
| chr2:130617535
|
A | C | 1 | a0003c0003t0001g0067 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.699+297A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130617535 | ||||||
| chr2:130617663
|
GA | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.699+427delA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130617663 | |||||
| chr2:130617926
|
T | C | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.699+688T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130617926 | ||||||
| chr2:130618145
|
G | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+907G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618145 | ||||||
| chr2:130618514
|
G | C | 1 | a0002c0002t0001g0122 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.699+1276G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618514 | ||||||
| chr2:130618573
|
TAAC | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+1357_699+1359d others(5): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130618573 | |||||
| chr2:130618582
|
C | T | 1 | a0008c0010t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.699+1344C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618582 | ||||||
| chr2:130618591
|
C | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.699+1353C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618591 | ||||||
| chr2:130618595
|
A | G | 6 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0001g0100others(3): Show | 6 | HG00423.hp1 HG00609.hp2 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.699+1357A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618595 | ||||||
| chr2:130618603
|
C | T | 7 | a0002c0002t0001g0024a0006c0008t0001g0008a0006c0008t0001g0009others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.699+1365C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618603 | ||||||
| chr2:130618693
|
C | T | 4 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0001g0100others(1): Show | 4 | HG00423.hp1 HG00609.hp2 HG02027.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-1352C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618693 | ||||||
| chr2:130618774
|
C | CT | 28 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0045others(25): Show | 31 | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.700-1246dupT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130618774 | |||||
| chr2:130618774
|
C | CTT | 6 | a0001c0001t0001g0100a0003c0003t0001g0112a0004c0005t0001g0015others(3): Show | 6 | HG00423.hp2 HG00609.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.700-1247_700-1246d others(4): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130618774 | |||||
| chr2:130618774
|
C | CTTT | 6 | a0004c0005t0001g0016a0006c0008t0001g0008a0006c0008t0001g0009others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.700-1248_700-1246d others(5): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130618774 | |||||
| chr2:130618774
|
CT | C | 5 | a0001c0001t0001g0033a0005c0004t0001g0027a0005c0004t0001g0119others(2): Show | 5 | HG01358.hp1 HG02300.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.700-1246delT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | 130618774 | |||||
| chr2:130618924
|
T | A | 1 | a0020c0024t0001g0048 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.700-1121T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130618924 | ||||||
| chr2:130619005
|
G | A | 1 | a0004c0005t0001g0071 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.700-1040G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619005 | ||||||
| chr2:130619029
|
A | G | 1 | a0002c0002t0001g0083 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.700-1016A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619029 | ||||||
| chr2:130619271
|
G | A | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.700-774G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619271 | ||||||
| chr2:130619334
|
C | T | 1 | a0008c0010t0001g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.700-711C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619334 | ||||||
| chr2:130619836
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.700-209A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619836 | ||||||
| chr2:130619843
|
T | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.700-202T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619843 | ||||||
| chr2:130619890
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.700-155G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619890 | ||||||
| chr2:130619922
|
T | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.700-123T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619922 | ||||||
| chr2:130619985
|
T | C | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.700-60T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 3/14 | chr2 | 130619985 | ||||||
| chr2:130620219
|
A | G | 1 | a0008c0010t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.806+68A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620219 | ||||||
| chr2:130620630
|
T | C | 93 | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(90): Show | 98 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.806+479T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620630 | ||||||
| chr2:130620639
|
A | G | 1 | a0001c0001t0001g0107 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.806+488A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620639 | ||||||
| chr2:130620662
|
A | G | 1 | a0003c0003t0001g0063 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.806+511A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620662 | ||||||
| chr2:130620829
|
G | T | 1 | a0002c0002t0001g0096 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.807-637G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620829 | ||||||
| chr2:130620864
|
T | C | 2 | a0005c0004t0001g0119a0005c0004t0001g0120 | 2 | HG01358.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.807-602T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620864 | ||||||
| chr2:130620876
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.807-590G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620876 | ||||||
| chr2:130620924
|
A | C | 3 | a0001c0001t0001g0044a0001c0001t0001g0046a0016c0018t0001g0047 | 3 | HG00280.hp2 HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.807-542A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620924 | ||||||
| chr2:130620928
|
G | T | 2 | a0002c0002t0001g0082a0002c0002t0001g0094 | 2 | HG02080.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.807-538G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620928 | ||||||
| chr2:130620968
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.807-498A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130620968 | ||||||
| chr2:130621438
|
A | G | 2 | a0005c0004t0001g0119a0005c0004t0001g0120 | 2 | HG01358.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.807-28A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 4/14 | chr2 | 130621438 | ||||||
| chr2:130621670
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.944+67T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130621670 | ||||||
| chr2:130621741
|
A | C | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.944+138A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130621741 | ||||||
| chr2:130621964
|
C | G | 1 | a0001c0001t0001g0106 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.944+361C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130621964 | ||||||
| chr2:130622111
|
C | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.944+508C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622111 | ||||||
| chr2:130622194
|
G | A | 1 | a0002c0002t0001g0122 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.944+591G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622194 | ||||||
| chr2:130622287
|
G | A | 1 | a0009c0009t0001g0076 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.944+684G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622287 | ||||||
| chr2:130622297
|
T | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.944+694T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622297 | ||||||
| chr2:130622393
|
C | A | 1 | a0002c0002t0001g0017 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.944+790C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622393 | ||||||
| chr2:130622503
|
T | C | 1 | a0002c0002t0001g0082 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.944+900T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622503 | ||||||
| chr2:130622603
|
C | G | 8 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0050others(5): Show | 8 | HG00639.hp2 HG01975.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.944+1000C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622603 | ||||||
| chr2:130622670
|
T | C | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0034others(14): Show | 17 | HG00609.hp2 HG00639.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.944+1067T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622670 | ||||||
| chr2:130622673
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0034others(14): Show | 17 | HG00609.hp2 HG00639.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.944+1070C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622673 | ||||||
| chr2:130622674
|
C | G | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0034others(14): Show | 17 | HG00609.hp2 HG00639.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.944+1071C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622674 | ||||||
| chr2:130622675
|
C | A | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0034others(14): Show | 17 | HG00609.hp2 HG00639.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.944+1072C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622675 | ||||||
| chr2:130622848
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.945-1216C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622848 | ||||||
| chr2:130622892
|
C | T | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.945-1172C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622892 | ||||||
| chr2:130622988
|
A | G | 11 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0043others(8): Show | 11 | HG00609.hp2 HG00639.hp2 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.945-1076A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622988 | ||||||
| chr2:130622994
|
T | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.945-1070T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130622994 | ||||||
| chr2:130623047
|
C | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.945-1017C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623047 | ||||||
| chr2:130623059
|
T | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.945-1005T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623059 | ||||||
| chr2:130623235
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.945-829A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623235 | ||||||
| chr2:130623297
|
G | A | 1 | a0022c0019t0001g0081 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.945-767G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623297 | ||||||
| chr2:130623443
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.945-621C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623443 | ||||||
| chr2:130623535
|
A | T | 6 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0091others(3): Show | 6 | HG00639.hp2 HG01975.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.945-529A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623535 | ||||||
| chr2:130623698
|
A | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.945-366A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623698 | ||||||
| chr2:130623738
|
A | G | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0091others(11): Show | 14 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.945-326A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623738 | ||||||
| chr2:130623873
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.945-191T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623873 | ||||||
| chr2:130623998
|
G | A | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0091others(11): Show | 14 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.945-66G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130623998 | ||||||
| chr2:130624009
|
G | GT | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0091others(11): Show | 14 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.945-55_945-54insT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130624009 | ||||||
| chr2:130624010
|
A | T | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0091others(11): Show | 14 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.945-54A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 5/14 | chr2 | 130624010 | ||||||
| chr2:130624272
|
A | G | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1015+138A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624272 | ||||||
| chr2:130624335
|
A | C | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1015+201A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624335 | ||||||
| chr2:130624352
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1015+218G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624352 | ||||||
| chr2:130624368
|
A | C | 18 | a0001c0001t0001g0021a0001c0001t0001g0090a0001c0001t0001g0091others(15): Show | 18 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(15): Show |
intron_variant | MODIFIER | c.1015+234A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624368 | ||||||
| chr2:130624392
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+258C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624392 | ||||||
| chr2:130624658
|
A | G | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1015+524A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624658 | ||||||
| chr2:130624806
|
C | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1015+672C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624806 | ||||||
| chr2:130624845
|
T | C | 13 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(10): Show | 13 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.1015+711T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130624845 | ||||||
| chr2:130625076
|
A | T | 1 | a0001c0001t0001g0033 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1015+942A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625076 | ||||||
| chr2:130625196
|
G | A | 5 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(2): Show | 5 | HG00639.hp2 HG01975.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1015+1062G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625196 | ||||||
| chr2:130625323
|
A | G | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1015+1189A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625323 | ||||||
| chr2:130625351
|
A | G | 5 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(2): Show | 5 | HG00639.hp2 HG01975.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1015+1217A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625351 | ||||||
| chr2:130625362
|
A | C | 14 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(11): Show | 14 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.1015+1228A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625362 | ||||||
| chr2:130625515
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1015+1381A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625515 | ||||||
| chr2:130625612
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+1478C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625612 | ||||||
| chr2:130625697
|
G | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1015+1563G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625697 | ||||||
| chr2:130625762
|
A | G | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(9): Show | 12 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1015+1628A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625762 | ||||||
| chr2:130625770
|
G | A | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(9): Show | 12 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1015+1636G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625770 | ||||||
| chr2:130625803
|
A | G | 23 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0017others(20): Show | 25 | HG00597.hp2 HG02015.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.1015+1669A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625803 | ||||||
| chr2:130625806
|
T | G | 3 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106 | 3 | HG00639.hp2 HG01975.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1015+1672T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625806 | ||||||
| chr2:130625825
|
G | A | 4 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(1): Show | 4 | HG00639.hp2 HG01975.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1015+1691G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625825 | ||||||
| chr2:130625865
|
G | A | 1 | a0002c0002t0001g0077 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1015+1731G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625865 | ||||||
| chr2:130625891
|
C | T | 2 | a0001c0001t0001g0022a0001c0001t0001g0023 | 2 | HG00099.hp1 HG00639.hp1 |
intron_variant | MODIFIER | c.1015+1757C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625891 | ||||||
| chr2:130625900
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+1766C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625900 | ||||||
| chr2:130625942
|
T | A | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0106others(9): Show | 12 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1015+1808T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130625942 | ||||||
| chr2:130626018
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1015+1884G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626018 | ||||||
| chr2:130626050
|
G | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1015+1916G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626050 | ||||||
| chr2:130626178
|
C | G | 2 | a0008c0010t0001g0011a0010c0036t0001g0014 | 2 | HG02647.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.1015+2044C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626178 | ||||||
| chr2:130626179
|
C | G | 39 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(36): Show | 41 | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.1015+2045C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626179 | ||||||
| chr2:130626285
|
G | C | 1 | a0001c0001t0001g0049 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1015+2151G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626285 | ||||||
| chr2:130626293
|
C | T | 1 | a0027c0014t0002g0072 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1015+2159C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626293 | ||||||
| chr2:130626351
|
G | T | 2 | a0001c0001t0001g0106a0009c0009t0001g0076 | 2 | HG01975.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1015+2217G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626351 | ||||||
| chr2:130626428
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+2294G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626428 | ||||||
| chr2:130626570
|
T | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+2436T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626570 | ||||||
| chr2:130626769
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1015+2635G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626769 | ||||||
| chr2:130626782
|
T | C | 9 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.1015+2648T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626782 | ||||||
| chr2:130626823
|
G | A | 1 | a0001c0001t0001g0037 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1015+2689G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626823 | ||||||
| chr2:130626987
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1015+2853A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130626987 | ||||||
| chr2:130627049
|
G | T | 1 | a0002c0002t0001g0083 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1016-2900G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627049 | ||||||
| chr2:130627185
|
T | C | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-2764T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627185 | ||||||
| chr2:130627237
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0099others(5): Show | 9 | HG00423.hp1 HG00609.hp2 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.1016-2712G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627237 | ||||||
| chr2:130627260
|
A | T | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1016-2689A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627260 | ||||||
| chr2:130627408
|
T | C | 11 | a0001c0001t0001g0049a0001c0001t0001g0106a0002c0002t0001g0088others(8): Show | 11 | HG01167.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1016-2541T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627408 | ||||||
| chr2:130627574
|
A | G | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1016-2375A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627574 | ||||||
| chr2:130627598
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0099others(5): Show | 9 | HG00423.hp1 HG00609.hp2 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.1016-2351G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627598 | ||||||
| chr2:130627652
|
C | G | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-2297C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627652 | ||||||
| chr2:130627668
|
T | C | 11 | a0001c0001t0001g0106a0002c0002t0001g0088a0005c0004t0001g0027others(8): Show | 11 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.1016-2281T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627668 | ||||||
| chr2:130627751
|
GATTAT | G | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-2196_1016-219 others(9): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr2 | 130627751 | |||||
| chr2:130627769
|
C | T | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-2180C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627769 | ||||||
| chr2:130627788
|
G | A | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-2161G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627788 | ||||||
| chr2:130627892
|
C | T | 8 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.1016-2057C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627892 | ||||||
| chr2:130627901
|
T | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1016-2048T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130627901 | ||||||
| chr2:130628003
|
A | C | 1 | a0001c0001t0001g0033 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1016-1946A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628003 | ||||||
| chr2:130628017
|
G | A | 2 | a0001c0001t0001g0106a0002c0002t0001g0088 | 2 | HG01975.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.1016-1932G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628017 | ||||||
| chr2:130628131
|
T | C | 1 | a0003c0003t0001g0055 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1016-1818T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628131 | ||||||
| chr2:130628221
|
T | A | 2 | a0004c0005t0001g0015a0004c0005t0001g0016 | 2 | HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1016-1728T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628221 | ||||||
| chr2:130628282
|
G | T | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-1667G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628282 | ||||||
| chr2:130628457
|
T | G | 1 | a0001c0001t0001g0045 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1016-1492T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628457 | ||||||
| chr2:130628459
|
G | C | 9 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.1016-1490G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628459 | ||||||
| chr2:130628472
|
A | T | 8 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.1016-1477A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628472 | ||||||
| chr2:130628598
|
G | C | 4 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(1): Show | 4 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1016-1351G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628598 | ||||||
| chr2:130628628
|
A | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1016-1321A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628628 | ||||||
| chr2:130628847
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1016-1102A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628847 | ||||||
| chr2:130628879
|
C | A | 14 | a0001c0001t0001g0106a0002c0002t0001g0088a0004c0007t0001g0007others(11): Show | 15 | HG01256.hp2 HG01884.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.1016-1070C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628879 | ||||||
| chr2:130628978
|
A | C | 12 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(9): Show | 12 | HG00733.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1016-971A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130628978 | ||||||
| chr2:130629169
|
A | G | 10 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.1016-780A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629169 | ||||||
| chr2:130629216
|
G | A | 3 | a0003c0003t0001g0064a0003c0003t0001g0112a0031c0031t0001g0056 | 3 | HG00423.hp2 NA18975.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.1016-733G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629216 | ||||||
| chr2:130629277
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1016-672A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629277 | ||||||
| chr2:130629316
|
T | C | 1 | a0008c0010t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1016-633T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629316 | ||||||
| chr2:130629467
|
T | G | 13 | a0001c0001t0001g0106a0002c0002t0001g0082a0002c0002t0001g0088others(10): Show | 13 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.1016-482T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629467 | ||||||
| chr2:130629515
|
T | C | 12 | a0001c0001t0001g0106a0002c0002t0001g0088a0006c0008t0001g0008others(9): Show | 12 | HG01884.hp2 HG01891.hp2 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.1016-434T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629515 | ||||||
| chr2:130629587
|
A | G | 2 | a0001c0001t0001g0030a0011c0034t0001g0025 | 2 | HG00609.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1016-362A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 6/14 | chr2 | 130629587 | ||||||
| chr2:130630164
|
A | C | 8 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0099others(5): Show | 9 | HG00423.hp1 HG00609.hp2 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.1086+145A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630164 | ||||||
| chr2:130630349
|
A | T | 2 | a0002c0002t0001g0066a0002c0002t0001g0087 | 2 | HG00597.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1086+330A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630349 | ||||||
| chr2:130630452
|
A | G | 2 | a0001c0001t0001g0041a0001c0001t0001g0042 | 2 | HG02074.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.1086+433A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630452 | ||||||
| chr2:130630563
|
C | G | 9 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1086+544C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630563 | ||||||
| chr2:130630589
|
C | T | 9 | a0001c0001t0001g0020a0006c0008t0001g0008a0006c0008t0001g0009others(6): Show | 9 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1086+570C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630589 | ||||||
| chr2:130630594
|
A | G | 1 | a0002c0002t0001g0096 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1086+575A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630594 | ||||||
| chr2:130630647
|
G | A | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1086+628G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630647 | ||||||
| chr2:130630763
|
C | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-646C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630763 | ||||||
| chr2:130630813
|
A | C | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-596A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630813 | ||||||
| chr2:130630822
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1087-587T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630822 | ||||||
| chr2:130630851
|
T | C | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-558T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630851 | ||||||
| chr2:130630872
|
G | T | 12 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0054others(9): Show | 12 | HG00099.hp1 HG00597.hp2 HG00639.hp1 others(9): Show |
intron_variant | MODIFIER | c.1087-537G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630872 | ||||||
| chr2:130630981
|
G | C | 2 | a0003c0003t0001g0057a0003c0003t0001g0058 | 2 | HG01358.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.1087-428G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630981 | ||||||
| chr2:130630991
|
T | A | 9 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1087-418T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130630991 | ||||||
| chr2:130631032
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1087-377G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631032 | ||||||
| chr2:130631041
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1087-368T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631041 | ||||||
| chr2:130631088
|
C | CAAATT | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-319_1087-318i others(7): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr2 | 130631088 | |||||
| chr2:130631100
|
A | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1087-309A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631100 | ||||||
| chr2:130631133
|
C | A | 1 | a0001c0001t0001g0034 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1087-276C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631133 | ||||||
| chr2:130631135
|
C | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-274C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631135 | ||||||
| chr2:130631149
|
C | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1087-260C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631149 | ||||||
| chr2:130631176
|
A | G | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-233A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631176 | ||||||
| chr2:130631246
|
ATTAT | A | 11 | a0002c0002t0001g0077a0002c0002t0001g0083a0006c0008t0001g0008others(8): Show | 11 | HG01884.hp2 HG01891.hp2 HG02027.hp1 others(8): Show |
intron_variant | MODIFIER | c.1087-155_1087-152d others(6): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr2 | 130631246 | |||||
| chr2:130631267
|
T | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1087-142T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631267 | ||||||
| chr2:130631298
|
C | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1087-111C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631298 | ||||||
| chr2:130631342
|
C | T | 9 | a0001c0001t0001g0049a0006c0008t0001g0008a0006c0008t0001g0009others(6): Show | 9 | HG01167.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1087-67C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631342 | ||||||
| chr2:130631378
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1087-31G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631378 | ||||||
| chr2:130631387
|
C | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1087-22C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631387 | ||||||
| chr2:130631400
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1087-9C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 7/14 | chr2 | 130631400 | ||||||
| chr2:130631568
|
G | C | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1131+115G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631568 | ||||||
| chr2:130631609
|
T | A | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1131+156T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631609 | ||||||
| chr2:130631632
|
C | G | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1131+179C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631632 | ||||||
| chr2:130631678
|
C | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1131+225C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631678 | ||||||
| chr2:130631784
|
C | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1131+331C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631784 | ||||||
| chr2:130631810
|
T | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1131+357T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631810 | ||||||
| chr2:130631828
|
A | T | 1 | a0005c0004t0001g0120 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1131+375A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631828 | ||||||
| chr2:130631905
|
T | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1131+452T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631905 | ||||||
| chr2:130631957
|
T | C | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1131+504T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631957 | ||||||
| chr2:130631998
|
G | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1132-492G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130631998 | ||||||
| chr2:130632040
|
A | G | 10 | a0001c0001t0001g0020a0001c0001t0001g0021a0003c0003t0001g0067others(7): Show | 10 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1132-450A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632040 | ||||||
| chr2:130632110
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1132-380A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632110 | ||||||
| chr2:130632299
|
C | A | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1132-191C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632299 | ||||||
| chr2:130632316
|
G | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1132-174G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632316 | ||||||
| chr2:130632375
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1132-115G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632375 | ||||||
| chr2:130632413
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1132-77G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632413 | ||||||
| chr2:130632469
|
A | G | 2 | a0029c0029t0001g0075a0030c0030t0001g0074 | 2 | HG03540.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1132-21A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 8/14 | chr2 | 130632469 | ||||||
| chr2:130632732
|
A | T | 1 | a0005c0004t0001g0118 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1298+76A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632732 | ||||||
| chr2:130632775
|
A | G | 9 | a0001c0001t0001g0020a0001c0001t0001g0021a0006c0008t0001g0008others(6): Show | 9 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1298+119A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632775 | ||||||
| chr2:130632808
|
A | G | 1 | a0001c0001t0001g0034 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1298+152A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632808 | ||||||
| chr2:130632825
|
T | G | 9 | a0001c0001t0001g0020a0001c0001t0001g0021a0006c0008t0001g0008others(6): Show | 9 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1298+169T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632825 | ||||||
| chr2:130632970
|
G | T | 8 | a0001c0001t0001g0020a0001c0001t0001g0021a0006c0008t0001g0008others(5): Show | 8 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1298+314G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632970 | ||||||
| chr2:130632988
|
C | T | 4 | a0001c0001t0001g0044a0001c0001t0001g0046a0010c0036t0001g0014others(1): Show | 4 | HG00280.hp2 HG01109.hp1 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1298+332C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130632988 | ||||||
| chr2:130633028
|
A | G | 10 | a0001c0001t0001g0020a0001c0001t0001g0021a0006c0008t0001g0008others(7): Show | 10 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1298+372A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633028 | ||||||
| chr2:130633094
|
A | G | 2 | a0003c0003t0001g0057a0003c0003t0001g0058 | 2 | HG01358.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.1298+438A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633094 | ||||||
| chr2:130633148
|
T | C | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0002c0002t0001g0066others(9): Show | 12 | HG00597.hp2 HG00639.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.1298+492T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633148 | ||||||
| chr2:130633191
|
TC | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1298+537delC | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130633191 | |||||
| chr2:130633368
|
T | TATA | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+713_1298+714i others(5): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130633368 | |||||
| chr2:130633432
|
T | C | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1298+776T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633432 | ||||||
| chr2:130633698
|
AT | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1298+1044delT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130633698 | |||||
| chr2:130633785
|
C | T | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1298+1129C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633785 | ||||||
| chr2:130633820
|
A | G | 10 | a0001c0001t0001g0020a0001c0001t0001g0021a0003c0003t0001g0108others(7): Show | 10 | HG00639.hp2 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1298+1164A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633820 | ||||||
| chr2:130633911
|
T | C | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+1255T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633911 | ||||||
| chr2:130633915
|
A | T | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+1259A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633915 | ||||||
| chr2:130633919
|
A | T | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+1263A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633919 | ||||||
| chr2:130633922
|
TTA | T | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+1268_1298+126 others(6): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130633922 | |||||
| chr2:130633927
|
T | C | 2 | a0002c0002t0001g0004a0022c0019t0001g0081 | 3 | HG02015.hp1 HG02056.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.1298+1271T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633927 | ||||||
| chr2:130633939
|
T | C | 1 | a0002c0002t0001g0079 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1298+1283T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633939 | ||||||
| chr2:130633965
|
G | A | 1 | a0002c0002t0001g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1298+1309G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130633965 | ||||||
| chr2:130634052
|
C | T | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1298+1396C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634052 | ||||||
| chr2:130634070
|
C | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1298+1414C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634070 | ||||||
| chr2:130634242
|
C | A | 1 | a0007c0006t0001g0085 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1298+1586C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634242 | ||||||
| chr2:130634271
|
GA | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1298+1619delA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130634271 | |||||
| chr2:130634319
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1298+1663C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634319 | ||||||
| chr2:130634362
|
G | T | 26 | a0003c0003t0001g0001a0003c0003t0001g0055a0003c0003t0001g0057others(23): Show | 27 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(24): Show |
intron_variant | MODIFIER | c.1298+1706G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634362 | ||||||
| chr2:130634858
|
C | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+2202C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130634858 | ||||||
| chr2:130635141
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+2485A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635141 | ||||||
| chr2:130635190
|
G | A | 2 | a0004c0005t0001g0071a0010c0036t0001g0014 | 2 | HG02647.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1298+2534G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635190 | ||||||
| chr2:130635211
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1298+2555G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635211 | ||||||
| chr2:130635462
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1298+2806C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635462 | ||||||
| chr2:130635486
|
A | G | 11 | a0002c0002t0001g0087a0003c0003t0001g0055a0003c0003t0001g0061others(8): Show | 11 | HG00597.hp2 HG01167.hp1 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.1298+2830A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635486 | ||||||
| chr2:130635675
|
T | C | 120 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0020others(117): Show | 127 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(124): Show |
intron_variant | MODIFIER | c.1299-2944T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130635675 | ||||||
| chr2:130636015
|
A | G | 1 | a0002c0002t0001g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1299-2604A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636015 | ||||||
| chr2:130636063
|
C | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-2556C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636063 | ||||||
| chr2:130636064
|
T | C | 1 | a0008c0010t0001g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1299-2555T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636064 | ||||||
| chr2:130636071
|
C | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1299-2548C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636071 | ||||||
| chr2:130636073
|
T | C | 80 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(77): Show | 85 | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.1299-2546T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636073 | ||||||
| chr2:130636082
|
C | T | 1 | a0001c0001t0001g0116 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1299-2537C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636082 | ||||||
| chr2:130636392
|
C | A | 1 | a0001c0001t0001g0116 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1299-2227C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636392 | ||||||
| chr2:130636413
|
A | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1299-2206A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636413 | ||||||
| chr2:130636414
|
C | T | 1 | a0013c0015t0001g0113 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1299-2205C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636414 | ||||||
| chr2:130636480
|
GA | G | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1299-2128delA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | 130636480 | |||||
| chr2:130636484
|
A | T | 2 | a0003c0003t0001g0057a0003c0003t0001g0058 | 2 | HG01358.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.1299-2135A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636484 | ||||||
| chr2:130636491
|
A | C | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1299-2128A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636491 | ||||||
| chr2:130636506
|
A | G | 7 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1299-2113A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636506 | ||||||
| chr2:130636568
|
T | C | 1 | a0002c0002t0001g0024 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1299-2051T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636568 | ||||||
| chr2:130636806
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-1813A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636806 | ||||||
| chr2:130636814
|
C | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1299-1805C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636814 | ||||||
| chr2:130636847
|
C | T | 4 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(1): Show | 4 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1299-1772C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636847 | ||||||
| chr2:130636859
|
A | G | 2 | a0001c0001t0001g0038a0011c0034t0001g0025 | 2 | HG01261.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1299-1760A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636859 | ||||||
| chr2:130636938
|
G | A | 1 | a0001c0001t0001g0116 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1299-1681G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130636938 | ||||||
| chr2:130637004
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1299-1615G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637004 | ||||||
| chr2:130637018
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1299-1601G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637018 | ||||||
| chr2:130637154
|
C | T | 1 | a0015c0017t0001g0095 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1299-1465C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637154 | ||||||
| chr2:130637244
|
T | G | 2 | a0029c0029t0001g0075a0030c0030t0001g0074 | 2 | HG03540.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1299-1375T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637244 | ||||||
| chr2:130637348
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-1271G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637348 | ||||||
| chr2:130637407
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1299-1212A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637407 | ||||||
| chr2:130637411
|
A | G | 5 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(2): Show | 5 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1299-1208A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637411 | ||||||
| chr2:130637447
|
C | T | 3 | a0001c0001t0001g0038a0010c0036t0001g0014a0011c0034t0001g0025 | 3 | HG01261.hp1 HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1299-1172C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637447 | ||||||
| chr2:130637507
|
T | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1299-1112T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637507 | ||||||
| chr2:130637564
|
G | C | 3 | a0003c0003t0001g0055a0003c0003t0001g0061a0003c0003t0001g0065 | 3 | NA18945.hp1 NA18952.hp1 NA18994.hp2 |
intron_variant | MODIFIER | c.1299-1055G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637564 | ||||||
| chr2:130637616
|
G | T | 1 | a0001c0001t0001g0029 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1299-1003G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637616 | ||||||
| chr2:130637684
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1299-935A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637684 | ||||||
| chr2:130637905
|
C | G | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1299-714C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637905 | ||||||
| chr2:130637933
|
A | G | 1 | a0017c0022t0001g0073 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1299-686A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130637933 | ||||||
| chr2:130638028
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1299-591G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638028 | ||||||
| chr2:130638106
|
C | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1299-513C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638106 | ||||||
| chr2:130638148
|
A | G | 1 | a0003c0003t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1299-471A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638148 | ||||||
| chr2:130638190
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-429G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638190 | ||||||
| chr2:130638251
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-368A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638251 | ||||||
| chr2:130638251
|
A | G | 8 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0099others(5): Show | 9 | HG00423.hp1 HG00609.hp2 HG02027.hp2 others(6): Show |
intron_variant | MODIFIER | c.1299-368A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638251 | ||||||
| chr2:130638377
|
C | T | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1299-242C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638377 | ||||||
| chr2:130638433
|
T | G | 1 | a0002c0002t0001g0017 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1299-186T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638433 | ||||||
| chr2:130638482
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1299-137G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638482 | ||||||
| chr2:130638482
|
G | C | 2 | a0003c0003t0001g0064a0003c0003t0001g0112 | 2 | HG00423.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.1299-137G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638482 | ||||||
| chr2:130638609
|
T | G | 1 | a0006c0008t0001g0008 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1299-10T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 9/14 | chr2 | 130638609 | ||||||
| chr2:130638726
|
G | T | 1 | a0004c0007t0001g0007 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1369+37G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130638726 | ||||||
| chr2:130638813
|
G | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1369+124G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130638813 | ||||||
| chr2:130638924
|
G | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1369+235G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130638924 | ||||||
| chr2:130639001
|
G | C | 1 | a0005c0004t0001g0027 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1369+312G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639001 | ||||||
| chr2:130639139
|
C | G | 29 | a0001c0001t0001g0069a0001c0001t0001g0092a0001c0001t0001g0093others(26): Show | 31 | HG00423.hp1 HG00597.hp2 HG01358.hp2 others(28): Show |
intron_variant | MODIFIER | c.1369+450C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639139 | ||||||
| chr2:130639169
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1369+480G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639169 | ||||||
| chr2:130639343
|
G | C | 1 | a0001c0001t0001g0050 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1369+654G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639343 | ||||||
| chr2:130639381
|
G | A | 4 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0106others(1): Show | 4 | HG01952.hp1 HG01975.hp2 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.1369+692G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639381 | ||||||
| chr2:130639403
|
A | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1369+714A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639403 | ||||||
| chr2:130639424
|
T | C | 1 | a0020c0024t0001g0048 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1369+735T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639424 | ||||||
| chr2:130639438
|
G | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1369+749G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639438 | ||||||
| chr2:130639786
|
T | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1369+1097T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639786 | ||||||
| chr2:130639845
|
C | T | 1 | a0001c0001t0001g0045 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1369+1156C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639845 | ||||||
| chr2:130639973
|
T | C | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1369+1284T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130639973 | ||||||
| chr2:130640051
|
T | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1369+1362T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640051 | ||||||
| chr2:130640214
|
A | G | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1369+1525A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640214 | ||||||
| chr2:130640293
|
G | C | 10 | a0002c0002t0001g0066a0002c0002t0001g0087a0006c0008t0001g0008others(7): Show | 10 | HG00597.hp2 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1369+1604G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640293 | ||||||
| chr2:130640296
|
T | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1369+1607T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640296 | ||||||
| chr2:130640326
|
G | GA | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1369+1638dupA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | 130640326 | |||||
| chr2:130640622
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1369+1933A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640622 | ||||||
| chr2:130640667
|
G | A | 3 | a0002c0002t0001g0089a0010c0036t0001g0014a0011c0034t0001g0025 | 3 | HG02647.hp2 HG02886.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.1369+1978G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640667 | ||||||
| chr2:130640963
|
G | A | 1 | a0021c0021t0001g0086 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1369+2274G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130640963 | ||||||
| chr2:130641020
|
C | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1369+2331C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641020 | ||||||
| chr2:130641337
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1370-2646A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641337 | ||||||
| chr2:130641361
|
T | C | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-2622T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641361 | ||||||
| chr2:130641388
|
C | T | 3 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0001g0100 | 3 | HG00423.hp1 HG00609.hp2 NA18975.hp2 |
intron_variant | MODIFIER | c.1370-2595C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641388 | ||||||
| chr2:130641672
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1370-2311A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641672 | ||||||
| chr2:130641721
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-2262G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641721 | ||||||
| chr2:130641742
|
T | C | 1 | a0005c0004t0001g0121 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1370-2241T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641742 | ||||||
| chr2:130641777
|
C | T | 1 | a0003c0003t0001g0109 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1370-2206C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641777 | ||||||
| chr2:130641823
|
T | C | 2 | a0004c0005t0001g0015a0004c0005t0001g0016 | 2 | HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1370-2160T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130641823 | ||||||
| chr2:130642011
|
A | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-1972A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642011 | ||||||
| chr2:130642028
|
G | A | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-1955G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642028 | ||||||
| chr2:130642041
|
T | A | 9 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1370-1942T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642041 | ||||||
| chr2:130642174
|
G | T | 3 | a0001c0001t0001g0050a0001c0001t0001g0052a0024c0027t0001g0032 | 3 | NA18982.hp2 NA19004.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.1370-1809G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642174 | ||||||
| chr2:130642231
|
G | A | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-1752G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642231 | ||||||
| chr2:130642266
|
A | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-1717A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642266 | ||||||
| chr2:130642284
|
A | G | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1370-1699A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642284 | ||||||
| chr2:130642357
|
G | C | 1 | a0001c0001t0001g0049 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1370-1626G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642357 | ||||||
| chr2:130642821
|
C | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1370-1162C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642821 | ||||||
| chr2:130642842
|
G | A | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-1141G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642842 | ||||||
| chr2:130642846
|
C | T | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-1137C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642846 | ||||||
| chr2:130642893
|
C | A | 1 | a0002c0002t0001g0018 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.1370-1090C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642893 | ||||||
| chr2:130642987
|
G | C | 18 | a0003c0003t0001g0001a0003c0003t0001g0055a0003c0003t0001g0057others(15): Show | 19 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.1370-996G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130642987 | ||||||
| chr2:130643188
|
C | T | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1370-795C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643188 | ||||||
| chr2:130643205
|
G | A | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-778G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643205 | ||||||
| chr2:130643209
|
G | C | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-774G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643209 | ||||||
| chr2:130643242
|
A | G | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1370-741A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643242 | ||||||
| chr2:130643454
|
G | A | 2 | a0004c0007t0001g0007a0017c0022t0001g0073 | 3 | HG01256.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1370-529G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643454 | ||||||
| chr2:130643461
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1370-522G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643461 | ||||||
| chr2:130643493
|
G | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1370-490G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643493 | ||||||
| chr2:130643512
|
A | G | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1370-471A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643512 | ||||||
| chr2:130643518
|
T | A | 9 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(6): Show | 9 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1370-465T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643518 | ||||||
| chr2:130643592
|
T | C | 2 | a0001c0001t0001g0090a0014c0016t0001g0110 | 2 | NA18947.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1370-391T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643592 | ||||||
| chr2:130643634
|
A | G | 1 | a0001c0001t0001g0037 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1370-349A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643634 | ||||||
| chr2:130643676
|
T | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1370-307T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643676 | ||||||
| chr2:130643808
|
C | A | 1 | a0001c0001t0003g0035 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1370-175C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643808 | ||||||
| chr2:130643832
|
T | C | 1 | a0001c0001t0001g0054 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1370-151T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643832 | ||||||
| chr2:130643911
|
G | A | 4 | a0002c0002t0001g0004a0005c0004t0001g0002a0005c0004t0001g0121others(1): Show | 6 | HG00597.hp1 HG02015.hp1 HG02015.hp2 others(3): Show |
intron_variant | MODIFIER | c.1370-72G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/14 | chr2 | 130643911 | ||||||
| chr2:130644092
|
G | A | 1 | a0028c0013t0001g0114 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1440+39G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644092 | ||||||
| chr2:130644125
|
C | G | 1 | a0004c0007t0001g0070 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1440+72C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644125 | ||||||
| chr2:130644208
|
C | T | 2 | a0002c0002t0001g0079a0002c0002t0001g0097 | 2 | HG03834.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1440+155C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644208 | ||||||
| chr2:130644209
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1440+156G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644209 | ||||||
| chr2:130644338
|
C | T | 8 | a0001c0001t0001g0069a0001c0001t0001g0090a0001c0001t0001g0091others(5): Show | 8 | HG00423.hp1 HG00609.hp2 HG02735.hp2 others(5): Show |
intron_variant | MODIFIER | c.1440+285C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644338 | ||||||
| chr2:130644339
|
G | A | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1440+286G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644339 | ||||||
| chr2:130644393
|
T | C | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1440+340T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644393 | ||||||
| chr2:130644405
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1440+352G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644405 | ||||||
| chr2:130644476
|
T | A | 1 | a0003c0003t0001g0061 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1440+423T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644476 | ||||||
| chr2:130644620
|
T | A | 1 | a0001c0001t0001g0106 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1440+567T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644620 | ||||||
| chr2:130644917
|
T | C | 2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG00609.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.1441-820T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644917 | ||||||
| chr2:130644926
|
G | A | 2 | a0013c0015t0001g0113a0014c0016t0001g0110 | 2 | HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1441-811G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130644926 | ||||||
| chr2:130645079
|
G | C | 77 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(74): Show | 82 | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.1441-658G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645079 | ||||||
| chr2:130645093
|
T | C | 3 | a0010c0036t0001g0014a0013c0015t0001g0113a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1441-644T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645093 | ||||||
| chr2:130645142
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031 | 3 | HG00609.hp1 HG02074.hp2 NA18979.hp1 |
intron_variant | MODIFIER | c.1441-595G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645142 | ||||||
| chr2:130645311
|
T | G | 76 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(73): Show | 81 | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(78): Show |
intron_variant | MODIFIER | c.1441-426T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645311 | ||||||
| chr2:130645312
|
G | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1441-425G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645312 | ||||||
| chr2:130645312
|
G | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1441-425G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645312 | ||||||
| chr2:130645586
|
ATTTT | A | 3 | a0010c0036t0001g0014a0013c0015t0001g0113a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1441-150_1441-147d others(6): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645586 | ||||||
| chr2:130645644
|
C | A | 2 | a0013c0015t0001g0113a0014c0016t0001g0110 | 2 | HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1441-93C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645644 | ||||||
| chr2:130645676
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1441-61A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 11/14 | chr2 | 130645676 | ||||||
| chr2:130645797
|
C | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1485+16C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130645797 | ||||||
| chr2:130645801
|
T | C | 1 | a0001c0001t0001g0091 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1485+20T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130645801 | ||||||
| chr2:130645874
|
T | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0013c0015t0001g0113others(1): Show | 4 | HG02647.hp2 HG02886.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1485+93T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130645874 | ||||||
| chr2:130645902
|
A | T | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1485+121A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130645902 | ||||||
| chr2:130646032
|
A | G | 10 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(7): Show | 10 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1486-97A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130646032 | ||||||
| chr2:130646079
|
G | A | 3 | a0011c0034t0001g0025a0013c0015t0001g0113a0014c0016t0001g0110 | 3 | HG02886.hp1 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1486-50G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 12/14 | chr2 | 130646079 | ||||||
| chr2:130646315
|
G | A | 1 | a0001c0001t0001g0091 | 1 | NA18971.hp2 | splice_region_variant&intron_variant | LOW | c.1667+5G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646315 | ||||||
| chr2:130646484
|
G | A | 5 | a0004c0007t0001g0070a0010c0036t0001g0014a0011c0034t0001g0025others(2): Show | 5 | HG02647.hp2 HG02886.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1667+174G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646484 | ||||||
| chr2:130646514
|
A | G | 80 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(77): Show | 85 | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.1667+204A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646514 | ||||||
| chr2:130646560
|
T | A | 1 | a0005c0004t0001g0120 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1667+250T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646560 | ||||||
| chr2:130646571
|
CG | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0013c0015t0001g0113others(1): Show | 4 | HG02647.hp2 HG02886.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+265delG | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130646571 | |||||
| chr2:130646651
|
A | G | 2 | a0004c0005t0001g0015a0004c0005t0001g0016 | 2 | HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1667+341A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646651 | ||||||
| chr2:130646835
|
A | G | 4 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(1): Show | 4 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+525A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130646835 | ||||||
| chr2:130647025
|
A | G | 1 | a0003c0003t0001g0112 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1667+715A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647025 | ||||||
| chr2:130647067
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1667+757G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647067 | ||||||
| chr2:130647072
|
T | A | 1 | a0002c0002t0001g0082 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1667+762T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647072 | ||||||
| chr2:130647108
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1667+798G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647108 | ||||||
| chr2:130647131
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+821G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647131 | ||||||
| chr2:130647142
|
A | T | 7 | a0003c0003t0001g0064a0006c0008t0001g0008a0006c0008t0001g0009others(4): Show | 7 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1667+832A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647142 | ||||||
| chr2:130647203
|
G | A | 2 | a0003c0003t0001g0064a0003c0003t0001g0112 | 2 | HG00423.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.1667+893G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647203 | ||||||
| chr2:130647241
|
A | G | 1 | a0001c0001t0001g0116 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1667+931A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647241 | ||||||
| chr2:130647338
|
G | T | 1 | a0025c0026t0001g0101 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1667+1028G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647338 | ||||||
| chr2:130647366
|
C | A | 1 | a0001c0001t0001g0051 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1667+1056C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647366 | ||||||
| chr2:130647443
|
A | G | 1 | a0002c0002t0001g0089 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.1667+1133A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647443 | ||||||
| chr2:130647487
|
G | A | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+1177G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647487 | ||||||
| chr2:130647556
|
T | G | 2 | a0005c0004t0001g0118a0010c0036t0001g0014 | 2 | HG02647.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.1667+1246T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647556 | ||||||
| chr2:130647606
|
G | T | 1 | a0003c0003t0001g0065 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.1667+1296G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647606 | ||||||
| chr2:130647620
|
C | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+1310C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647620 | ||||||
| chr2:130647685
|
C | T | 2 | a0001c0001t0001g0026a0014c0016t0001g0110 | 2 | HG01884.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+1375C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647685 | ||||||
| chr2:130647686
|
A | G | 4 | a0001c0001t0001g0026a0010c0036t0001g0014a0011c0034t0001g0025others(1): Show | 4 | HG01884.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+1376A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647686 | ||||||
| chr2:130647753
|
C | G | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1667+1443C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647753 | ||||||
| chr2:130647776
|
C | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1667+1466C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647776 | ||||||
| chr2:130647783
|
T | G | 23 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0018others(20): Show | 25 | HG00597.hp2 HG02015.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.1667+1473T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647783 | ||||||
| chr2:130647837
|
G | A | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+1527G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647837 | ||||||
| chr2:130647907
|
A | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+1597A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647907 | ||||||
| chr2:130647935
|
C | T | 1 | a0012c0011t0001g0078 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1667+1625C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647935 | ||||||
| chr2:130647936
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+1626G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647936 | ||||||
| chr2:130647956
|
T | C | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+1646T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130647956 | ||||||
| chr2:130648027
|
G | A | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1667+1717G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648027 | ||||||
| chr2:130648059
|
A | G | 2 | a0014c0016t0001g0110a0016c0018t0001g0047 | 2 | HG01109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+1749A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648059 | ||||||
| chr2:130648098
|
T | G | 2 | a0001c0001t0001g0092a0001c0001t0001g0093 | 2 | HG03491.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.1667+1788T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648098 | ||||||
| chr2:130648202
|
G | T | 10 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(7): Show | 10 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1667+1892G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648202 | ||||||
| chr2:130648207
|
G | T | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+1897G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648207 | ||||||
| chr2:130648282
|
T | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+1972T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648282 | ||||||
| chr2:130648311
|
T | G | 2 | a0015c0017t0001g0095a0016c0018t0001g0047 | 2 | HG01109.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.1667+2001T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648311 | ||||||
| chr2:130648313
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+2003A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648313 | ||||||
| chr2:130648405
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2095G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648405 | ||||||
| chr2:130648499
|
C | T | 1 | a0001c0001t0001g0050 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1667+2189C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648499 | ||||||
| chr2:130648506
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2196G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648506 | ||||||
| chr2:130648507
|
T | C | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2197T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648507 | ||||||
| chr2:130648509
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2199G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648509 | ||||||
| chr2:130648531
|
A | G | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | HG00639.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1667+2221A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648531 | ||||||
| chr2:130648569
|
T | C | 11 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(8): Show | 11 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1667+2259T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648569 | ||||||
| chr2:130648676
|
C | A | 3 | a0007c0006t0001g0085a0010c0036t0001g0014a0014c0016t0001g0110 | 3 | HG02647.hp2 HG03831.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+2366C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648676 | ||||||
| chr2:130648687
|
G | A | 3 | a0007c0006t0001g0085a0010c0036t0001g0014a0014c0016t0001g0110 | 3 | HG02647.hp2 HG03831.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+2377G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648687 | ||||||
| chr2:130648690
|
T | C | 3 | a0007c0006t0001g0085a0010c0036t0001g0014a0014c0016t0001g0110 | 3 | HG02647.hp2 HG03831.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+2380T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648690 | ||||||
| chr2:130648780
|
AGTTTTTT others(7): Show |
A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2471_1667+248 others(18): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648780 | ||||||
| chr2:130648781
|
G | GT | 26 | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0036others(23): Show | 27 | HG00423.hp2 HG00597.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.1667+2500dupT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130648781 | |||||
| chr2:130648781
|
G | GTTTTTTT others(5): Show |
1 | a0008c0010t0001g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1667+2489_1667+250 others(16): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130648781 | |||||
| chr2:130648781
|
GT | G | 4 | a0002c0002t0001g0094a0003c0003t0001g0059a0003c0003t0001g0063others(1): Show | 4 | HG02056.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+2500delT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130648781 | |||||
| chr2:130648791
|
T | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+2481T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648791 | ||||||
| chr2:130648795
|
T | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2485T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648795 | ||||||
| chr2:130648811
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+2501A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648811 | ||||||
| chr2:130648824
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2514G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648824 | ||||||
| chr2:130648827
|
T | C | 1 | a0006c0008t0001g0009 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1667+2517T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648827 | ||||||
| chr2:130648854
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1667+2544A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648854 | ||||||
| chr2:130648941
|
C | T | 4 | a0002c0002t0001g0077a0002c0002t0001g0083a0012c0011t0001g0078others(1): Show | 4 | HG02027.hp1 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.1667+2631C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648941 | ||||||
| chr2:130648942
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2632G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648942 | ||||||
| chr2:130648949
|
C | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1667+2639C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648949 | ||||||
| chr2:130648982
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1667+2672A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130648982 | ||||||
| chr2:130649072
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+2762G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649072 | ||||||
| chr2:130649096
|
A | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+2786A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649096 | ||||||
| chr2:130649157
|
C | G | 1 | a0025c0026t0001g0101 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1667+2847C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649157 | ||||||
| chr2:130649275
|
T | C | 2 | a0007c0006t0001g0085a0014c0016t0001g0110 | 2 | HG03831.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+2965T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649275 | ||||||
| chr2:130649349
|
C | CTGATCTT others(17): Show |
1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3039_1667+304 others(28): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649349 | ||||||
| chr2:130649350
|
A | C | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3040A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649350 | ||||||
| chr2:130649458
|
A | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3148A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649458 | ||||||
| chr2:130649469
|
G | A | 2 | a0007c0006t0001g0085a0014c0016t0001g0110 | 2 | HG03831.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+3159G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649469 | ||||||
| chr2:130649502
|
A | G | 11 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(8): Show | 11 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1667+3192A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649502 | ||||||
| chr2:130649518
|
G | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3208G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649518 | ||||||
| chr2:130649528
|
G | A | 5 | a0007c0006t0001g0085a0010c0036t0001g0014a0011c0034t0001g0025others(2): Show | 5 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1667+3218G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649528 | ||||||
| chr2:130649607
|
C | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1667+3297C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649607 | ||||||
| chr2:130649622
|
C | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3312C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649622 | ||||||
| chr2:130649726
|
T | C | 1 | a0001c0001t0001g0049 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1667+3416T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649726 | ||||||
| chr2:130649756
|
T | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+3446T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649756 | ||||||
| chr2:130649764
|
T | G | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+3454T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649764 | ||||||
| chr2:130649773
|
CT | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+3465delT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130649773 | |||||
| chr2:130649819
|
C | A | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+3509C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649819 | ||||||
| chr2:130649858
|
T | G | 3 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110 | 3 | HG02647.hp2 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+3548T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649858 | ||||||
| chr2:130649958
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3648G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649958 | ||||||
| chr2:130649977
|
A | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3667A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649977 | ||||||
| chr2:130649986
|
C | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3676C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649986 | ||||||
| chr2:130649987
|
C | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3677C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130649987 | ||||||
| chr2:130650066
|
A | G | 2 | a0011c0034t0001g0025a0016c0018t0001g0047 | 2 | HG01109.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1667+3756A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650066 | ||||||
| chr2:130650077
|
C | G | 43 | a0001c0001t0001g0006a0001c0001t0001g0069a0001c0001t0001g0090others(40): Show | 45 | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(42): Show |
intron_variant | MODIFIER | c.1667+3767C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650077 | ||||||
| chr2:130650084
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1667+3774A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650084 | ||||||
| chr2:130650119
|
T | C | 3 | a0010c0036t0001g0014a0014c0016t0001g0110a0018c0023t0001g0028 | 3 | HG02647.hp2 HG04115.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+3809T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650119 | ||||||
| chr2:130650129
|
T | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3819T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650129 | ||||||
| chr2:130650158
|
C | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3848C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650158 | ||||||
| chr2:130650172
|
A | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3862A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650172 | ||||||
| chr2:130650279
|
C | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+3969C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650279 | ||||||
| chr2:130650370
|
T | G | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1667+4060T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650370 | ||||||
| chr2:130650395
|
T | C | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1667+4085T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650395 | ||||||
| chr2:130650469
|
A | G | 2 | a0011c0034t0001g0025a0016c0018t0001g0047 | 2 | HG01109.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1667+4159A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650469 | ||||||
| chr2:130650512
|
A | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1667+4202A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650512 | ||||||
| chr2:130650515
|
T | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1667+4205T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650515 | ||||||
| chr2:130650536
|
A | G | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1667+4226A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650536 | ||||||
| chr2:130650538
|
G | C | 1 | a0026c0028t0001g0039 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.1667+4228G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650538 | ||||||
| chr2:130650597
|
T | A | 2 | a0010c0036t0001g0014a0014c0016t0001g0110 | 2 | HG02647.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1667+4287T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650597 | ||||||
| chr2:130650711
|
C | G | 3 | a0008c0010t0001g0011a0010c0036t0001g0014a0014c0016t0001g0110 | 3 | HG02647.hp1 HG02647.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1668-4210C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650711 | ||||||
| chr2:130650774
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-4147G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650774 | ||||||
| chr2:130650873
|
T | C | 1 | a0028c0013t0001g0114 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1668-4048T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650873 | ||||||
| chr2:130650881
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-4040G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650881 | ||||||
| chr2:130650969
|
C | T | 4 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0001g0100others(1): Show | 4 | HG00423.hp1 HG00609.hp2 HG01109.hp1 others(1): Show |
intron_variant | MODIFIER | c.1668-3952C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130650969 | ||||||
| chr2:130651003
|
A | G | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1668-3918A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651003 | ||||||
| chr2:130651023
|
C | T | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1668-3898C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651023 | ||||||
| chr2:130651027
|
C | T | 1 | a0002c0002t0001g0024 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1668-3894C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651027 | ||||||
| chr2:130651029
|
CCTCATCC others(10): Show |
C | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3889_1668-387 others(21): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130651029 | |||||
| chr2:130651088
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1668-3833G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651088 | ||||||
| chr2:130651097
|
T | A | 1 | a0003c0003t0001g0108 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1668-3824T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651097 | ||||||
| chr2:130651097
|
T | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3824T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651097 | ||||||
| chr2:130651157
|
C | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3764C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651157 | ||||||
| chr2:130651275
|
A | G | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1668-3646A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651275 | ||||||
| chr2:130651306
|
A | C | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3615A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651306 | ||||||
| chr2:130651307
|
G | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3614G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651307 | ||||||
| chr2:130651572
|
A | T | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3349A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651572 | ||||||
| chr2:130651604
|
T | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3317T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651604 | ||||||
| chr2:130651631
|
T | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3290T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651631 | ||||||
| chr2:130651665
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1668-3256A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651665 | ||||||
| chr2:130651705
|
A | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3216A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651705 | ||||||
| chr2:130651767
|
C | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-3154C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651767 | ||||||
| chr2:130651783
|
G | A | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-3138G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651783 | ||||||
| chr2:130651785
|
A | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1668-3136A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651785 | ||||||
| chr2:130651880
|
T | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-3041T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651880 | ||||||
| chr2:130651916
|
T | C | 3 | a0002c0002t0001g0066a0002c0002t0001g0087a0031c0031t0001g0056 | 3 | HG00597.hp2 NA18975.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.1668-3005T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651916 | ||||||
| chr2:130651928
|
T | C | 1 | a0001c0001t0001g0099 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1668-2993T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130651928 | ||||||
| chr2:130651974
|
A | AC | 59 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(56): Show | 63 | HG00423.hp2 HG00597.hp2 HG00733.hp1 others(60): Show |
intron_variant | MODIFIER | c.1668-2938dupC | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130651974 | |||||
| chr2:130651974
|
A | ACC | 12 | a0001c0001t0001g0006a0001c0001t0001g0099a0001c0001t0001g0100others(9): Show | 13 | HG00609.hp2 HG01261.hp2 HG02027.hp2 others(10): Show |
intron_variant | MODIFIER | c.1668-2939_1668-293 others(6): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130651974 | |||||
| chr2:130652033
|
C | A | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1668-2888C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652033 | ||||||
| chr2:130652085
|
T | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-2836T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652085 | ||||||
| chr2:130652265
|
G | A | 10 | a0002c0002t0001g0066a0002c0002t0001g0077a0002c0002t0001g0082others(7): Show | 10 | HG00597.hp2 HG02027.hp1 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.1668-2656G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652265 | ||||||
| chr2:130652280
|
A | T | 28 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0017others(25): Show | 30 | HG00597.hp2 HG01109.hp1 HG02015.hp1 others(27): Show |
intron_variant | MODIFIER | c.1668-2641A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652280 | ||||||
| chr2:130652307
|
T | C | 2 | a0002c0002t0001g0089a0014c0016t0001g0110 | 2 | NA18950.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1668-2614T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652307 | ||||||
| chr2:130652501
|
T | TG | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1668-2419dupG | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130652501 | |||||
| chr2:130652519
|
A | C | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-2402A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652519 | ||||||
| chr2:130652631
|
C | A | 1 | a0001c0001t0001g0107 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1668-2290C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652631 | ||||||
| chr2:130652757
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-2164G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652757 | ||||||
| chr2:130652824
|
A | G | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1668-2097A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652824 | ||||||
| chr2:130652855
|
C | A | 1 | a0014c0016t0001g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1668-2066C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652855 | ||||||
| chr2:130652915
|
G | T | 1 | a0020c0024t0001g0048 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1668-2006G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652915 | ||||||
| chr2:130652926
|
T | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-1995T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652926 | ||||||
| chr2:130652945
|
G | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-1976G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652945 | ||||||
| chr2:130652965
|
C | G | 4 | a0011c0034t0001g0025a0014c0016t0001g0110a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02886.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-1956C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652965 | ||||||
| chr2:130652975
|
A | G | 4 | a0011c0034t0001g0025a0014c0016t0001g0110a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02886.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-1946A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130652975 | ||||||
| chr2:130653003
|
A | G | 1 | a0029c0029t0001g0075 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1668-1918A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653003 | ||||||
| chr2:130653015
|
TTTACTC | T | 4 | a0011c0034t0001g0025a0014c0016t0001g0110a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02886.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-1904_1668-189 others(10): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr2 | 130653015 | |||||
| chr2:130653149
|
A | G | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-1772A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653149 | ||||||
| chr2:130653229
|
A | C | 5 | a0010c0036t0001g0014a0014c0016t0001g0110a0016c0018t0001g0047others(2): Show | 5 | HG01109.hp1 HG02647.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1668-1692A>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653229 | ||||||
| chr2:130653229
|
A | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-1692A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653229 | ||||||
| chr2:130653271
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1668-1650A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653271 | ||||||
| chr2:130653308
|
C | A | 18 | a0003c0003t0001g0001a0003c0003t0001g0055a0003c0003t0001g0057others(15): Show | 19 | HG00423.hp2 HG01167.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.1668-1613C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653308 | ||||||
| chr2:130653429
|
T | C | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1668-1492T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653429 | ||||||
| chr2:130653437
|
C | A | 1 | a0001c0001t0001g0026 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1668-1484C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653437 | ||||||
| chr2:130653446
|
C | A | 1 | a0028c0013t0001g0114 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1668-1475C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653446 | ||||||
| chr2:130653446
|
C | T | 5 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(2): Show | 5 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1668-1475C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653446 | ||||||
| chr2:130653620
|
A | G | 3 | a0014c0016t0001g0110a0016c0018t0001g0047a0029c0029t0001g0075 | 3 | HG01109.hp1 HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1668-1301A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653620 | ||||||
| chr2:130653695
|
G | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1668-1226G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653695 | ||||||
| chr2:130653734
|
A | G | 3 | a0005c0004t0001g0002a0005c0004t0001g0121a0033c0032t0001g0002 | 4 | HG00597.hp1 HG02015.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.1668-1187A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653734 | ||||||
| chr2:130653889
|
C | T | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1668-1032C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653889 | ||||||
| chr2:130653908
|
T | C | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1668-1013T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653908 | ||||||
| chr2:130653991
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1668-930T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130653991 | ||||||
| chr2:130654200
|
T | C | 3 | a0010c0036t0001g0014a0016c0018t0001g0047a0029c0029t0001g0075 | 3 | HG01109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1668-721T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654200 | ||||||
| chr2:130654383
|
A | G | 33 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(30): Show | 34 | HG00423.hp2 HG01109.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.1668-538A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654383 | ||||||
| chr2:130654387
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-534G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654387 | ||||||
| chr2:130654397
|
C | A | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1668-524C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654397 | ||||||
| chr2:130654495
|
T | C | 1 | a0030c0030t0001g0074 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1668-426T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654495 | ||||||
| chr2:130654499
|
C | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1668-422C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654499 | ||||||
| chr2:130654584
|
C | T | 4 | a0004c0007t0001g0007a0004c0007t0001g0070a0017c0022t0001g0073others(1): Show | 5 | HG01256.hp2 HG03209.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.1668-337C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654584 | ||||||
| chr2:130654640
|
T | C | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1668-281T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654640 | ||||||
| chr2:130654670
|
A | T | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1668-251A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654670 | ||||||
| chr2:130654677
|
T | A | 6 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(3): Show | 6 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1668-244T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654677 | ||||||
| chr2:130654720
|
T | G | 12 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(9): Show | 12 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.1668-201T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654720 | ||||||
| chr2:130654741
|
C | G | 8 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(5): Show | 8 | HG01109.hp1 HG02074.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1668-180C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654741 | ||||||
| chr2:130654829
|
A | G | 6 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(3): Show | 6 | HG01884.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1668-92A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654829 | ||||||
| chr2:130654838
|
A | G | 1 | a0001c0001t0001g0051 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1668-83A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 13/14 | chr2 | 130654838 | ||||||
| chr2:130655062
|
C | A | 4 | a0001c0001t0001g0021a0001c0001t0001g0037a0002c0002t0001g0088others(1): Show | 4 | HG03834.hp2 HG03942.hp2 NA18950.hp1 others(1): Show |
intron_variant | MODIFIER | c.1788+21C>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655062 | ||||||
| chr2:130655123
|
T | A | 1 | a0010c0036t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1788+82T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655123 | ||||||
| chr2:130655184
|
A | G | 12 | a0001c0001t0001g0030a0001c0001t0001g0040a0004c0007t0001g0007others(9): Show | 13 | HG00609.hp1 HG01109.hp1 HG01256.hp2 others(10): Show |
intron_variant | MODIFIER | c.1788+143A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655184 | ||||||
| chr2:130655224
|
C | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1788+183C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655224 | ||||||
| chr2:130655283
|
G | A | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1788+242G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655283 | ||||||
| chr2:130655301
|
C | T | 8 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(5): Show | 8 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1788+260C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655301 | ||||||
| chr2:130655351
|
G | A | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1788+310G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655351 | ||||||
| chr2:130655407
|
C | T | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1788+366C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655407 | ||||||
| chr2:130655429
|
G | T | 1 | a0020c0024t0001g0048 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1788+388G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655429 | ||||||
| chr2:130655432
|
C | T | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1788+391C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655432 | ||||||
| chr2:130655486
|
G | T | 1 | a0011c0034t0001g0025 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1788+445G>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655486 | ||||||
| chr2:130655491
|
G | A | 2 | a0014c0016t0001g0110a0025c0026t0001g0101 | 2 | HG03834.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1788+450G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655491 | ||||||
| chr2:130655758
|
C | G | 1 | a0008c0010t0001g0011 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1788+717C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655758 | ||||||
| chr2:130655777
|
A | G | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1788+736A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655777 | ||||||
| chr2:130655797
|
A | G | 114 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0020others(111): Show | 121 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(118): Show |
intron_variant | MODIFIER | c.1789-752A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655797 | ||||||
| chr2:130655874
|
C | T | 2 | a0014c0016t0001g0110a0025c0026t0001g0101 | 2 | HG03834.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1789-675C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655874 | ||||||
| chr2:130655908
|
G | A | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1789-641G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655908 | ||||||
| chr2:130655922
|
T | A | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1789-627T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655922 | ||||||
| chr2:130655924
|
G | C | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1789-625G>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130655924 | ||||||
| chr2:130656038
|
C | T | 2 | a0010c0036t0001g0014a0011c0034t0001g0025 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1789-511C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656038 | ||||||
| chr2:130656046
|
T | C | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1789-503T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656046 | ||||||
| chr2:130656061
|
G | GA | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1789-486dupA | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr2 | 130656061 | |||||
| chr2:130656067
|
A | T | 8 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(5): Show | 8 | HG02735.hp2 HG03491.hp2 HG03710.hp2 others(5): Show |
intron_variant | MODIFIER | c.1789-482A>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656067 | ||||||
| chr2:130656085
|
C | G | 7 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1789-464C>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656085 | ||||||
| chr2:130656185
|
G | A | 4 | a0010c0036t0001g0014a0011c0034t0001g0025a0016c0018t0001g0047others(1): Show | 4 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1789-364G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656185 | ||||||
| chr2:130656234
|
C | CT | 3 | a0003c0003t0001g0065a0016c0018t0001g0047a0029c0029t0001g0075 | 3 | HG01109.hp1 HG03540.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.1789-309dupT | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr2 | 130656234 | |||||
| chr2:130656284
|
C | T | 2 | a0001c0001t0001g0037a0001c0001t0001g0045 | 2 | NA18950.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.1789-265C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656284 | ||||||
| chr2:130656298
|
T | C | 2 | a0016c0018t0001g0047a0029c0029t0001g0075 | 2 | HG01109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1789-251T>C | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656298 | ||||||
| chr2:130656309
|
T | G | 1 | a0016c0018t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1789-240T>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656309 | ||||||
| chr2:130656358
|
C | T | 1 | a0023c0020t0001g0102 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1789-191C>T | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656358 | ||||||
| chr2:130656359
|
G | A | 2 | a0002c0002t0001g0066a0002c0002t0001g0087 | 2 | HG00597.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1789-190G>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656359 | ||||||
| chr2:130656488
|
A | G | 7 | a0010c0036t0001g0014a0011c0034t0001g0025a0014c0016t0001g0110others(4): Show | 7 | HG01109.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1789-61A>G | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656488 | ||||||
| chr2:130656500
|
T | A | 13 | a0006c0008t0001g0008a0006c0008t0001g0009a0006c0008t0001g0010others(10): Show | 13 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.1789-49T>A | POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 14/14 | chr2 | 130656500 |