| geneid | 777 |
|---|---|
| ensemblid | ENSG00000198216.14 |
| hgncid | 1392 |
| symbol | CACNA1E |
| name | calcium voltage-gated channel subunit alpha1 E |
| refseq_nuc | NM_001205293.3 |
| refseq_prot | NP_001192222.1 |
| ensembl_nuc | ENST00000367573.7 |
| ensembl_prot | ENSP00000356545.2 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 181483517 |
| end | 181808084 |
| strand | + |
| ver | v1.2 |
| region | chr1:181483517-181808084 |
| region5000 | chr1:181478517-181813084 |
| regionname0 | CACNA1E_chr1_181483517_181808084 |
| regionname5000 | CACNA1E_chr1_181478517_181813084 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2313 | 115 | 47 | 27 | 21 | 4 | 14 | 9 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002 | 0/0 | 2313 | 48 | 10 | 12 | 16 | 3 | 7 | 8 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003 | 0/0 | 2313 | 30 | 6 | 7 | 8 | 0 | 9 | 6 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0004 | 0/0 | 2313 | 4 | 0 | 4 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0005 | 0/0 | 2313 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0006 | 0/0 | 2313 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0007 | 0/0 | 2313 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0008 | 0/0 | 2313 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0009 | 0/0 | 2313 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0010 | 0/0 | 2313 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0011 | 0/0 | 2313 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0012 | 0/0 | 2313 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 6942 | 65 | 21 | 13 | 19 | 1 | 10 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0002 | 0/0 | 6942 | 45 | 9 | 11 | 16 | 3 | 6 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0003 | 0/0 | 6942 | 27 | 3 | 7 | 8 | 0 | 9 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0004 | 0/1 | 6942 | 16 | 5 | 5 | 2 | 1 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0005 | 0/0 | 6942 | 8 | 8 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0006 | 0/0 | 6942 | 8 | 3 | 2 | 0 | 2 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0007 | 0/0 | 6942 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0008 | 0/0 | 6942 | 4 | 3 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0009 | 0/0 | 6942 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0010 | 0/0 | 6942 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0011 | 0/0 | 6942 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0012 | 0/0 | 6942 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0013 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0014 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0015 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0016 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0017 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0018 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0019 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0020 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0021 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0022 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0023 | 0/0 | 6942 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0024 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0025 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0026 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0027 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0028 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0029 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0030 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0031 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| c0032 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 9481 | 20 | 2 | 10 | 1 | 1 | 6 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0002 | 0/0 | 9482 | 18 | 6 | 6 | 2 | 3 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0003 | 0/0 | 9482 | 15 | 0 | 2 | 7 | 1 | 5 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0004 | 0/0 | 9483 | 15 | 3 | 8 | 1 | 1 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0005 | 0/0 | 9482 | 10 | 0 | 0 | 9 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0006 | 0/0 | 9479 | 8 | 0 | 0 | 7 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0007 | 0/0 | 9482 | 7 | 0 | 7 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0008 | 0/0 | 9498 | 6 | 4 | 1 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0009 | 0/0 | 9497 | 4 | 0 | 0 | 3 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0010 | 0/0 | 9498 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0011 | 0/0 | 9480 | 4 | 2 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0012 | 1/0 | 9479 | 4 | 2 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0013 | 0/0 | 9498 | 3 | 0 | 0 | 1 | 0 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0014 | 0/0 | 9482 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0015 | 0/0 | 9497 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0016 | 0/1 | 9483 | 3 | 1 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0017 | 0/0 | 9497 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0018 | 0/0 | 9498 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0019 | 0/0 | 9499 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0020 | 0/0 | 9498 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0021 | 0/0 | 9482 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0022 | 0/0 | 9482 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0023 | 0/0 | 9485 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0024 | 0/0 | 9481 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0025 | 0/0 | 9482 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0026 | 0/0 | 9481 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0027 | 0/0 | 9481 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0028 | 0/0 | 9482 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0029 | 0/0 | 9498 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0030 | 0/0 | 9480 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0031 | 0/0 | 9482 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0032 | 0/0 | 9482 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0033 | 0/0 | 9498 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0034 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0035 | 0/0 | 9497 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0036 | 0/0 | 9498 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0037 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0038 | 0/0 | 9482 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0039 | 0/0 | 9485 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0040 | 0/0 | 9483 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0041 | 0/0 | 9482 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0042 | 0/0 | 9482 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0043 | 0/0 | 9482 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0044 | 0/0 | 9481 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0045 | 0/0 | 9481 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0046 | 0/0 | 9481 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0047 | 0/0 | 9497 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0048 | 0/0 | 9498 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0049 | 0/0 | 9498 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0050 | 0/0 | 9494 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0051 | 0/0 | 9497 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0052 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0053 | 0/0 | 9482 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0054 | 0/0 | 9482 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0055 | 0/0 | 9481 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0056 | 0/0 | 9482 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0057 | 0/0 | 9481 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0058 | 0/0 | 9482 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0059 | 0/0 | 9482 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0060 | 0/0 | 9480 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0061 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0062 | 0/0 | 9481 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0063 | 0/0 | 9483 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0064 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0065 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0066 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0067 | 0/0 | 9482 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0068 | 0/0 | 9481 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0069 | 0/0 | 9482 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0070 | 0/0 | 9498 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0071 | 0/0 | 9479 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0072 | 0/0 | 9496 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0073 | 0/0 | 9496 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0074 | 0/0 | 9492 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0075 | 0/0 | 9479 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0076 | 0/0 | 9480 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0077 | 0/0 | 9479 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0078 | 0/0 | 9483 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| t0079 | 0/0 | 9483 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0148 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0198 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 6942 | 65 | 21 | 13 | 19 | 1 | 10 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004 | 0/1 | 6942 | 16 | 5 | 5 | 2 | 1 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005 | 0/0 | 6942 | 8 | 8 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006 | 0/0 | 6942 | 8 | 3 | 2 | 0 | 2 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0008 | 0/0 | 6942 | 4 | 3 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0009 | 0/0 | 6942 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0011 | 0/0 | 6942 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0012 | 0/0 | 6942 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0015 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0020 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0022 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0024 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0026 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0031 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0032 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002 | 0/0 | 6942 | 45 | 9 | 11 | 16 | 3 | 6 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0025 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0029 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0030 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003 | 0/0 | 6942 | 27 | 3 | 7 | 8 | 0 | 9 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0010 | 0/0 | 6942 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0014 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0004c0007 | 0/0 | 6942 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0005c0013 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0005c0027 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0006c0018 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0007c0019 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0008c0028 | 0/0 | 6942 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0009c0021 | 0/0 | 6942 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0010c0023 | 0/0 | 6942 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0011c0017 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0012c0016 | 0/0 | 6942 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 16422 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0002 | 0/0 | 16423 | 3 | 2 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0003 | 0/0 | 16423 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0004 | 0/0 | 16424 | 3 | 1 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0005 | 0/0 | 16423 | 4 | 0 | 0 | 3 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0006 | 0/0 | 16420 | 8 | 0 | 0 | 7 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0007 | 0/0 | 16423 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0008 | 0/0 | 16439 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0009 | 0/0 | 16438 | 4 | 0 | 0 | 3 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0010 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0011 | 0/0 | 16421 | 3 | 2 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0012 | 1/0 | 16420 | 4 | 2 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0013 | 0/0 | 16439 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0014 | 0/0 | 16423 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0016 | 0/0 | 16424 | 2 | 1 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0017 | 0/0 | 16438 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0019 | 0/0 | 16440 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0024 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0025 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0033 | 0/0 | 16439 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0039 | 0/0 | 16426 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0043 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0048 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0052 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0058 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0059 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0063 | 0/0 | 16424 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0064 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0065 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0066 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0070 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0073 | 0/0 | 16437 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0074 | 0/0 | 16433 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0001t0076 | 0/0 | 16421 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0001 | 0/0 | 16422 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0002 | 0/0 | 16423 | 4 | 1 | 2 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0004 | 0/0 | 16424 | 3 | 0 | 2 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0008 | 0/0 | 16439 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0010 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0016 | 0/1 | 16424 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0031 | 0/0 | 16423 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0036 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0045 | 0/0 | 16422 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0004t0054 | 0/0 | 16423 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0018 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0024 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0026 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0030 | 0/0 | 16421 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0032 | 0/0 | 16423 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0005t0071 | 0/0 | 16420 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006t0002 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006t0004 | 0/0 | 16424 | 4 | 1 | 1 | 0 | 1 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006t0011 | 0/0 | 16421 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006t0025 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0006t0075 | 0/0 | 16420 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0008t0008 | 0/0 | 16439 | 3 | 2 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0008t0051 | 0/0 | 16438 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0009t0018 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0009t0040 | 0/0 | 16424 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0009t0078 | 0/0 | 16424 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0011t0004 | 0/0 | 16424 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0012t0029 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0012t0038 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0015t0047 | 0/0 | 16438 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0020t0031 | 0/0 | 16423 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0022t0056 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0024t0067 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0026t0042 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0031t0004 | 0/0 | 16424 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0001c0032t0062 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0001 | 0/0 | 16422 | 2 | 1 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0002 | 0/0 | 16423 | 7 | 1 | 3 | 2 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0003 | 0/0 | 16423 | 11 | 0 | 2 | 4 | 1 | 4 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0007 | 0/0 | 16423 | 3 | 0 | 3 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0010 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0013 | 0/0 | 16439 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0014 | 0/0 | 16423 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0015 | 0/0 | 16438 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0020 | 0/0 | 16439 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0021 | 0/0 | 16423 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0026 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0027 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0028 | 0/0 | 16423 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0029 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0034 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0035 | 0/0 | 16438 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0037 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0044 | 0/0 | 16422 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0049 | 0/0 | 16439 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0050 | 0/0 | 16435 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0053 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0002t0057 | 0/0 | 16422 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0025t0004 | 0/0 | 16424 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0029t0001 | 0/0 | 16422 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0002c0030t0079 | 0/0 | 16424 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0001 | 0/0 | 16422 | 11 | 0 | 7 | 0 | 0 | 4 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0003 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0004 | 0/0 | 16424 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0005 | 0/0 | 16423 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0010 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0014 | 0/0 | 16423 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0022 | 0/0 | 16423 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0023 | 0/0 | 16426 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0060 | 0/0 | 16421 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0061 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0003t0072 | 0/0 | 16437 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0010t0002 | 0/0 | 16423 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0003c0014t0069 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0004c0007t0001 | 0/0 | 16422 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0004c0007t0023 | 0/0 | 16426 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0004c0007t0046 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0005c0013t0020 | 0/0 | 16439 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0005c0027t0027 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0006c0018t0001 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0007c0019t0041 | 0/0 | 16423 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0008c0028t0068 | 0/0 | 16422 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0009c0021t0002 | 0/0 | 16423 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0010c0023t0077 | 0/0 | 16420 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0011c0017t0001 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| a0012c0016t0055 | 0/0 | 16422 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | copy fasta | chr1 | 181478517 | 181813084 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0002g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0003g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0003g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0003g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0004g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0004g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0004g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0005g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0005g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0005g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0005g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0006g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0007g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0007g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0007g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0007g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0008g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0009g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0009g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0009g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0009g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0010g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0011g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0011g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0011g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0012g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0012g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0012g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0012g0148 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0013g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0013g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0014g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0016g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0016g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0017g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0017g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0019g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0019g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0024g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0025g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0033g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0039g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0043g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0048g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0052g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0058g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0059g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0063g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0064g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0065g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0066g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0070g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0073g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0074g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0001t0076g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0002g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0002g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0004g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0004g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0004g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0008g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0008g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0010g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0016g0198 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0031g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0036g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0045g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0004t0054g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0018g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0024g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0026g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0030g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0030g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0032g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0032g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0005t0071g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0002g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0004g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0004g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0004g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0004g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0011g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0025g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0006t0075g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0008t0008g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0008t0008g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0008t0008g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0008t0051g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0009t0018g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0009t0040g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0009t0078g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0011t0004g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0011t0004g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0012t0029g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0012t0038g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0015t0047g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0020t0031g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0022t0056g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0024t0067g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0026t0042g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0031t0004g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0001c0032t0062g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0002g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0003g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0007g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0007g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0007g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0010g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0013g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0014g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0015g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0015g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0015g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0020g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0021g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0021g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0026g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0027g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0028g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0028g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0029g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0034g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0035g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0037g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0044g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0049g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0050g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0053g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0002t0057g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0025t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0029t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0002c0030t0079g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0003g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0004g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0005g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0010g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0014g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0022g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0022g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0023g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0060g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0061g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0003t0072g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0010t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0010t0002g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0003c0014t0069g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0004c0007t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0004c0007t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0004c0007t0023g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0004c0007t0046g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0005c0013t0020g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0005c0027t0027g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0006c0018t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0007c0019t0041g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0008c0028t0068g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0009c0021t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0010c0023t0077g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0011c0017t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| a0012c0016t0055g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0002 | c0002 | t0001 | g0023 | EUR | FIN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00280 | hp2 | a0001 | c0001 | t0006 | g0123 | EUR | FIN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00323 | hp1 | a0009 | c0021 | t0002 | g0098 | EUR | FIN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00323 | hp2 | a0001 | c0006 | t0002 | g0205 | EUR | FIN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00408 | hp1 | a0001 | c0001 | t0005 | g0086 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00408 | hp2 | a0002 | c0002 | t0002 | g0155 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00438 | hp1 | a0001 | c0001 | t0006 | g0151 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00438 | hp2 | a0001 | c0001 | t0009 | g0132 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00597 | hp2 | a0002 | c0002 | t0003 | g0051 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00609 | hp1 | a0003 | c0003 | t0005 | g0180 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00609 | hp2 | a0001 | c0001 | t0006 | g0189 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00639 | hp1 | a0001 | c0006 | t0004 | g0102 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00639 | hp2 | a0002 | c0002 | t0021 | g0010 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00642 | hp1 | a0001 | c0004 | t0002 | g0160 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00642 | hp2 | a0003 | c0003 | t0001 | g0009 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00673 | hp1 | a0003 | c0003 | t0004 | g0124 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00673 | hp2 | a0001 | c0001 | t0009 | g0049 | EAS | CHS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00735 | hp1 | a0001 | c0004 | t0002 | g0071 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00735 | hp2 | a0002 | c0002 | t0003 | g0161 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00741 | hp1 | a0003 | c0003 | t0001 | g0076 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG00741 | hp2 | a0002 | c0002 | t0007 | g0069 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01069 | hp1 | a0003 | c0003 | t0001 | g0119 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01069 | hp2 | a0002 | c0002 | t0020 | g0129 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01071 | hp1 | a0004 | c0007 | t0001 | g0171 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01071 | hp2 | a0003 | c0003 | t0001 | g0120 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01074 | hp1 | a0001 | c0008 | t0008 | g0030 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01099 | hp1 | a0001 | c0015 | t0047 | g0027 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01099 | hp2 | a0001 | c0004 | t0004 | g0072 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01109 | hp1 | a0001 | c0001 | t0024 | g0112 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01109 | hp2 | a0001 | c0032 | t0062 | g0073 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01169 | hp1 | a0012 | c0016 | t0055 | g0156 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01169 | hp2 | a0001 | c0031 | t0004 | g0118 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01175 | hp1 | a0001 | c0001 | t0004 | g0078 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01175 | hp2 | a0002 | c0002 | t0003 | g0159 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01192 | hp1 | a0001 | c0001 | t0012 | g0060 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01192 | hp2 | a0001 | c0011 | t0004 | g0091 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01243 | hp1 | a0002 | c0002 | t0027 | g0036 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01243 | hp2 | a0001 | c0001 | t0039 | g0093 | AMR | PUR | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01258 | hp1 | a0001 | c0001 | t0017 | g0045 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01258 | hp2 | a0004 | c0007 | t0001 | g0016 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01261 | hp1 | a0002 | c0002 | t0002 | g0143 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01261 | hp2 | a0004 | c0007 | t0046 | g0007 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01358 | hp1 | a0001 | c0001 | t0007 | g0136 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01358 | hp2 | a0001 | c0001 | t0011 | g0092 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01361 | hp1 | a0002 | c0002 | t0007 | g0094 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01361 | hp2 | a0001 | c0006 | t0011 | g0158 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01496 | hp1 | a0001 | c0001 | t0007 | g0121 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01496 | hp2 | a0004 | c0007 | t0023 | g0011 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01517 | hp1 | a0001 | c0006 | t0004 | g0014 | EUR | IBS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01517 | hp2 | a0002 | c0002 | t0053 | g0104 | EUR | IBS | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01884 | hp1 | a0003 | c0003 | t0061 | g0059 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01884 | hp2 | a0001 | c0008 | t0008 | g0039 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01891 | hp1 | a0001 | c0001 | t0052 | g0081 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01891 | hp2 | a0001 | c0005 | t0018 | g0061 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01934 | hp1 | a0002 | c0002 | t0002 | g0140 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01934 | hp2 | a0003 | c0003 | t0001 | g0149 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01975 | hp1 | a0001 | c0001 | t0007 | g0154 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01975 | hp2 | a0001 | c0020 | t0031 | g0074 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01978 | hp1 | a0002 | c0030 | t0079 | g0006 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01978 | hp2 | a0001 | c0004 | t0031 | g0095 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01993 | hp1 | a0001 | c0001 | t0017 | g0046 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01993 | hp2 | a0001 | c0011 | t0004 | g0206 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02015 | hp1 | a0001 | c0001 | t0006 | g0042 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02015 | hp2 | a0002 | c0002 | t0028 | g0021 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02040 | hp1 | a0002 | c0002 | t0003 | g0167 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02040 | hp2 | a0001 | c0001 | t0076 | g0087 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02071 | hp1 | a0001 | c0004 | t0045 | g0047 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02071 | hp2 | a0002 | c0002 | t0002 | g0191 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02132 | hp1 | a0001 | c0001 | t0003 | g0134 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02132 | hp2 | a0002 | c0002 | t0049 | g0169 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02135 | hp1 | a0001 | c0001 | t0003 | g0130 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02135 | hp2 | a0001 | c0001 | t0005 | g0172 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02257 | hp1 | a0001 | c0001 | t0016 | g0133 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02257 | hp2 | a0001 | c0009 | t0018 | g0041 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02258 | hp1 | a0002 | c0002 | t0026 | g0175 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02258 | hp2 | a0001 | c0009 | t0078 | g0040 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02273 | hp1 | a0002 | c0002 | t0007 | g0090 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02273 | hp2 | a0002 | c0002 | t0002 | g0139 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02280 | hp1 | a0001 | c0004 | t0036 | g0062 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02280 | hp2 | a0001 | c0009 | t0040 | g0141 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02293 | hp1 | a0001 | c0001 | t0007 | g0188 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02293 | hp2 | a0003 | c0003 | t0001 | g0096 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02300 | hp1 | a0011 | c0017 | t0001 | g0020 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02300 | hp2 | a0001 | c0001 | t0004 | g0146 | AMR | PEL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02451 | hp1 | a0002 | c0002 | t0034 | g0080 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0195 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02523 | hp1 | a0002 | c0002 | t0015 | g0108 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02523 | hp2 | a0002 | c0002 | t0035 | g0145 | EAS | KHV | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02602 | hp1 | a0003 | c0003 | t0023 | g0182 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02602 | hp2 | a0001 | c0001 | t0009 | g0135 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02615 | hp1 | a0001 | c0005 | t0030 | g0150 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02615 | hp2 | a0001 | c0012 | t0029 | g0163 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02630 | hp1 | a0001 | c0001 | t0073 | g0114 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02630 | hp2 | a0002 | c0002 | t0001 | g0022 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02698 | hp1 | a0002 | c0029 | t0001 | g0153 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02698 | hp2 | a0001 | c0001 | t0005 | g0015 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02717 | hp1 | a0002 | c0002 | t0037 | g0128 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02717 | hp2 | a0007 | c0019 | t0041 | g0116 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02723 | hp1 | a0001 | c0005 | t0032 | g0099 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02723 | hp2 | a0001 | c0001 | t0063 | g0026 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02738 | hp1 | a0001 | c0006 | t0004 | g0117 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02738 | hp2 | a0001 | c0001 | t0013 | g0187 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02809 | hp1 | a0002 | c0002 | t0029 | g0063 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02809 | hp2 | a0003 | c0003 | t0010 | g0127 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02818 | hp1 | a0001 | c0001 | t0011 | g0068 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02818 | hp2 | a0006 | c0018 | t0001 | g0056 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02886 | hp1 | a0003 | c0003 | t0072 | g0066 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02886 | hp2 | a0001 | c0006 | t0075 | g0064 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02895 | hp1 | a0002 | c0002 | t0010 | g0024 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02895 | hp2 | a0003 | c0014 | t0069 | g0196 | AFR | GWD | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02922 | hp1 | a0005 | c0027 | t0027 | g0174 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02922 | hp2 | a0001 | c0005 | t0026 | g0031 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02965 | hp1 | a0003 | c0010 | t0002 | g0035 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02965 | hp2 | a0001 | c0001 | t0066 | g0070 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02976 | hp1 | a0001 | c0001 | t0002 | g0126 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02976 | hp2 | a0001 | c0024 | t0067 | g0004 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03017 | hp1 | a0003 | c0003 | t0060 | g0079 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03017 | hp2 | a0001 | c0001 | t0033 | g0088 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03098 | hp1 | a0003 | c0010 | t0002 | g0113 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03098 | hp2 | a0001 | c0004 | t0008 | g0122 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03139 | hp1 | a0001 | c0005 | t0030 | g0178 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03139 | hp2 | a0001 | c0005 | t0032 | g0029 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03195 | hp1 | a0001 | c0001 | t0048 | g0054 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03195 | hp2 | a0001 | c0001 | t0011 | g0038 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03209 | hp1 | a0008 | c0028 | t0068 | g0055 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03209 | hp2 | a0005 | c0013 | t0020 | g0194 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03225 | hp1 | a0001 | c0004 | t0010 | g0067 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03225 | hp2 | a0001 | c0012 | t0038 | g0002 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03239 | hp1 | a0002 | c0002 | t0002 | g0184 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03239 | hp2 | a0003 | c0003 | t0022 | g0193 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03492 | hp1 | a0001 | c0001 | t0059 | g0107 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03492 | hp2 | a0001 | c0004 | t0004 | g0137 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03516 | hp1 | a0001 | c0001 | t0019 | g0034 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03516 | hp2 | a0001 | c0001 | t0065 | g0173 | AFR | ESN | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03669 | hp1 | a0003 | c0003 | t0003 | g0103 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03669 | hp2 | a0002 | c0002 | t0003 | g0203 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03688 | hp1 | a0001 | c0001 | t0013 | g0105 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03688 | hp2 | a0003 | c0003 | t0001 | g0012 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03704 | hp1 | a0002 | c0002 | t0003 | g0144 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03704 | hp2 | a0001 | c0022 | t0056 | g0176 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03710 | hp1 | a0003 | c0003 | t0001 | g0106 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03710 | hp2 | a0002 | c0002 | t0003 | g0201 | SAS | PJL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03831 | hp1 | a0001 | c0001 | t0008 | g0179 | SAS | BEB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03831 | hp2 | a0001 | c0004 | t0001 | g0186 | SAS | BEB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03834 | hp1 | a0001 | c0001 | t0016 | g0181 | SAS | BEB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03834 | hp2 | a0003 | c0003 | t0022 | g0177 | SAS | BEB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG04115 | hp1 | a0003 | c0003 | t0001 | g0033 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG04115 | hp2 | a0001 | c0001 | t0058 | g0204 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG04199 | hp1 | a0003 | c0003 | t0001 | g0147 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG04199 | hp2 | a0002 | c0002 | t0057 | g0168 | SAS | STU | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18522 | hp1 | a0001 | c0001 | t0004 | g0058 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18522 | hp2 | a0001 | c0006 | t0025 | g0111 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18906 | hp1 | a0001 | c0008 | t0051 | g0165 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18906 | hp2 | a0001 | c0005 | t0024 | g0003 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18942 | hp1 | a0001 | c0001 | t0014 | g0142 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18942 | hp2 | a0001 | c0001 | t0006 | g0050 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18964 | hp1 | a0002 | c0002 | t0044 | g0053 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18964 | hp2 | a0010 | c0023 | t0077 | g0008 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18968 | hp1 | a0002 | c0002 | t0003 | g0043 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18968 | hp2 | a0001 | c0001 | t0005 | g0089 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18972 | hp1 | a0003 | c0003 | t0005 | g0083 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18972 | hp2 | a0001 | c0001 | t0006 | g0131 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18977 | hp1 | a0002 | c0002 | t0028 | g0097 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18977 | hp2 | a0001 | c0001 | t0009 | g0085 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18983 | hp1 | a0003 | c0003 | t0005 | g0170 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18983 | hp2 | a0002 | c0002 | t0013 | g0162 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18988 | hp1 | a0003 | c0003 | t0005 | g0152 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA18988 | hp2 | a0001 | c0001 | t0003 | g0044 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19003 | hp1 | a0001 | c0004 | t0054 | g0018 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19003 | hp2 | a0003 | c0003 | t0005 | g0192 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19030 | hp1 | a0001 | c0005 | t0071 | g0110 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19030 | hp2 | a0001 | c0001 | t0012 | g0005 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19043 | hp1 | a0001 | c0026 | t0042 | g0025 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19043 | hp2 | a0001 | c0001 | t0019 | g0052 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19057 | hp1 | a0001 | c0001 | t0006 | g0075 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19057 | hp2 | a0002 | c0002 | t0015 | g0048 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19082 | hp1 | a0003 | c0003 | t0005 | g0190 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19082 | hp2 | a0002 | c0002 | t0014 | g0125 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19084 | hp1 | a0001 | c0001 | t0006 | g0183 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19084 | hp2 | a0002 | c0002 | t0003 | g0084 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19085 | hp1 | a0003 | c0003 | t0014 | g0082 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19085 | hp2 | a0002 | c0002 | t0015 | g0017 | EAS | JPT | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19240 | hp1 | a0001 | c0001 | t0010 | g0028 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA19240 | hp2 | a0001 | c0008 | t0008 | g0164 | AFR | YRI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20129 | hp1 | a0002 | c0002 | t0050 | g0197 | AFR | ASW | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20129 | hp2 | a0001 | c0006 | t0004 | g0019 | AFR | ASW | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20752 | hp1 | a0002 | c0002 | t0003 | g0157 | EUR | TSI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20752 | hp2 | a0001 | c0004 | t0002 | g0199 | EUR | TSI | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20905 | hp1 | a0002 | c0002 | t0003 | g0202 | SAS | GIH | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20905 | hp2 | a0001 | c0001 | t0043 | g0077 | SAS | GIH | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01123 | hp1 | a0003 | c0003 | t0001 | g0200 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG01123 | hp2 | a0001 | c0004 | t0004 | g0185 | AMR | CLM | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02559 | hp1 | a0002 | c0025 | t0004 | g0065 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG02559 | hp2 | a0001 | c0001 | t0074 | g0109 | AFR | ACB | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03471 | hp1 | a0001 | c0001 | t0064 | g0013 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG03471 | hp2 | a0001 | c0004 | t0008 | g0032 | AFR | MSL | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG06807 | hp1 | a0001 | c0004 | t0002 | g0101 | AFR | USA | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| HG06807 | hp2 | a0001 | c0001 | t0012 | g0100 | AFR | USA | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20300 | hp1 | a0002 | c0002 | t0002 | g0138 | AFR | USA | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA20300 | hp2 | a0002 | c0002 | t0021 | g0115 | AFR | USA | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA21309 | hp1 | a0001 | c0001 | t0070 | g0037 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| NA21309 | hp2 | a0001 | c0001 | t0025 | g0057 | AFR | LWK | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0004 | t0016 | g0198 | REF | REF | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0012 | g0148 | REF | REF | CACNA1E_chr1_181478517_181813084 | CACNA1E | chr1 | 181478517 | 181813084 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:181732663
|
T | A | 4 | a0003a0004a0011others(1): Show | 36 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(33): Show |
missense_variant | MODERATE | c.2577T>A | p.Asp859Glu | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/48 | 2805/16420 | 2577/6942 | 859/2313 | chr1 | 181732663 | ||
| chr1:181732674
|
G | A | 1 | a0006 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.2588G>A | p.Arg863Gln | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/48 | 2816/16420 | 2588/6942 | 863/2313 | chr1 | 181732674 | ||
| chr1:181733480
|
G | A | 2 | a0004a0012 | 5 | HG01071.hp1 HG01169.hp1 HG01258.hp2 others(2): Show |
missense_variant | MODERATE | c.2992G>A | p.Gly998Ser | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/48 | 3220/16420 | 2992/6942 | 998/2313 | chr1 | 181733480 | ||
| chr1:181733553
|
C | T | 1 | a0005 | 2 | HG02922.hp1 HG03209.hp2 |
missense_variant | MODERATE | c.3065C>T | p.Thr1022Met | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/48 | 3293/16420 | 3065/6942 | 1022/2313 | chr1 | 181733553 | ||
| chr1:181739225
|
G | A | 1 | a0007 | 1 | HG02717.hp2 | missense_variant | MODERATE | c.3691G>A | p.Val1231Ile | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/48 | 3919/16420 | 3691/6942 | 1231/2313 | chr1 | 181739225 | ||
| chr1:181785743
|
C | A | 1 | a0011 | 1 | HG02300.hp1 | missense_variant | MODERATE | c.5710C>A | p.Pro1904Thr | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/48 | 5938/16420 | 5710/6942 | 1904/2313 | chr1 | 181785743 | ||
| chr1:181790521
|
G | A | 2 | a0002a0012 | 49 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(46): Show |
missense_variant | MODERATE | c.5863G>A | p.Ala1955Thr | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/48 | 6091/16420 | 5863/6942 | 1955/2313 | chr1 | 181790521 | ||
| chr1:181790530
|
G | A | 1 | a0010 | 1 | NA18964.hp2 | missense_variant | MODERATE | c.5872G>A | p.Gly1958Arg | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/48 | 6100/16420 | 5872/6942 | 1958/2313 | chr1 | 181790530 | ||
| chr1:181793774
|
G | A | 1 | a0008 | 1 | HG03209.hp1 | missense_variant | MODERATE | c.6008G>A | p.Arg2003His | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/48 | 6236/16420 | 6008/6942 | 2003/2313 | chr1 | 181793774 | ||
| chr1:181794991
|
G | A | 1 | a0009 | 1 | HG00323.hp1 | missense_variant | MODERATE | c.6155G>A | p.Arg2052Gln | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/48 | 6383/16420 | 6155/6942 | 2052/2313 | chr1 | 181794991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:181483801
|
G | A | 1 | a0005c0013 | 1 | HG03209.hp2 | synonymous_variant | LOW | c.57G>A | p.Ser19Ser | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/48 | 285/16420 | 57/6942 | 19/2313 | chr1 | 181483801 | ||
| chr1:181579205
|
A | G | 5 | a0001c0006a0001c0031a0001c0032others(2): Show | 12 | HG00323.hp2 HG00639.hp1 HG01109.hp2 others(9): Show |
synonymous_variant | LOW | c.750A>G | p.Ala250Ala | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/48 | 978/16420 | 750/6942 | 250/2313 | chr1 | 181579205 | ||
| chr1:181580638
|
G | A | 1 | a0003c0014 | 1 | HG02895.hp2 | synonymous_variant | LOW | c.813G>A | p.Gln271Gln | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/48 | 1041/16420 | 813/6942 | 271/2313 | chr1 | 181580638 | ||
| chr1:181711017
|
G | A | 1 | a0001c0015 | 1 | HG01099.hp1 | synonymous_variant | LOW | c.1119G>A | p.Gln373Gln | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/48 | 1347/16420 | 1119/6942 | 373/2313 | chr1 | 181711017 | ||
| chr1:181716122
|
C | G | 1 | a0005c0013 | 1 | HG03209.hp2 | synonymous_variant | LOW | c.1308C>G | p.Ser436Ser | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/48 | 1536/16420 | 1308/6942 | 436/2313 | chr1 | 181716122 | ||
| chr1:181732414
|
C | T | 1 | a0008c0028 | 1 | HG03209.hp1 | synonymous_variant | LOW | c.2328C>T | p.Ser776Ser | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/48 | 2556/16420 | 2328/6942 | 776/2313 | chr1 | 181732414 | ||
| chr1:181737549
|
C | T | 11 | a0001c0008a0001c0009a0001c0015others(8): Show | 46 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(43): Show |
synonymous_variant | LOW | c.3447C>T | p.Ile1149Ile | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/48 | 3675/16420 | 3447/6942 | 1149/2313 | chr1 | 181737549 | ||
| chr1:181755245
|
C | T | 1 | a0002c0025 | 1 | HG02559.hp1 | synonymous_variant | LOW | c.3837C>T | p.Phe1279Phe | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/48 | 4065/16420 | 3837/6942 | 1279/2313 | chr1 | 181755245 | ||
| chr1:181755311
|
C | T | 1 | a0001c0031 | 1 | HG01169.hp2 | synonymous_variant | LOW | c.3903C>T | p.Phe1301Phe | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/48 | 4131/16420 | 3903/6942 | 1301/2313 | chr1 | 181755311 | ||
| chr1:181755974
|
T | C | 18 | a0001c0004a0001c0005a0001c0008others(15): Show | 76 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(73): Show |
synonymous_variant | LOW | c.4008T>C | p.His1336His | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 29/48 | 4236/16420 | 4008/6942 | 1336/2313 | chr1 | 181755974 | ||
| chr1:181758811
|
C | T | 1 | a0001c0022 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.4548C>T | p.Ala1516Ala | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/48 | 4776/16420 | 4548/6942 | 1516/2313 | chr1 | 181758811 | ||
| chr1:181772165
|
C | T | 12 | a0001c0004a0001c0009a0001c0011others(9): Show | 59 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(56): Show |
synonymous_variant | LOW | c.5073C>T | p.Asn1691Asn | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/48 | 5301/16420 | 5073/6942 | 1691/2313 | chr1 | 181772165 | ||
| chr1:181790502
|
G | A | 2 | a0001c0008a0001c0032 | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
synonymous_variant | LOW | c.5844G>A | p.Gln1948Gln | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/48 | 6072/16420 | 5844/6942 | 1948/2313 | chr1 | 181790502 | ||
| chr1:181790511
|
T | C | 1 | a0001c0012 | 2 | HG02615.hp2 HG03225.hp2 |
synonymous_variant | LOW | c.5853T>C | p.Cys1951Cys | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/48 | 6081/16420 | 5853/6942 | 1951/2313 | chr1 | 181790511 | ||
| chr1:181798459
|
C | T | 2 | a0001c0011a0001c0020 | 3 | HG01192.hp2 HG01975.hp2 HG01993.hp2 |
synonymous_variant | LOW | c.6567C>T | p.Ser2189Ser | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6795/16420 | 6567/6942 | 2189/2313 | chr1 | 181798459 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:181798908
|
G | A | 1 | a0001c0001t0033 | 1 | HG03017.hp2 | 3_prime_UTR_variant | MODIFIER | c.*74G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 74 | chr1 | 181798908 | |||||
| chr1:181799045
|
A | G | 1 | a0002c0030t0079 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*211A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 211 | chr1 | 181799045 | |||||
| chr1:181799050
|
T | C | 17 | a0001c0001t0007a0001c0001t0009a0001c0001t0013others(14): Show | 27 | HG00438.hp2 HG00673.hp2 HG00741.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*216T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 216 | chr1 | 181799050 | |||||
| chr1:181799433
|
G | C | 3 | a0001c0001t0019a0002c0002t0020a0005c0013t0020 | 4 | HG01069.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*599G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 599 | chr1 | 181799433 | |||||
| chr1:181799631
|
T | C | 8 | a0001c0001t0005a0001c0001t0014a0001c0001t0043others(5): Show | 16 | HG00408.hp1 HG00609.hp1 HG02135.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*797T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 797 | chr1 | 181799631 | |||||
| chr1:181799723
|
A | AT | 10 | a0001c0001t0005a0001c0001t0014a0001c0001t0043others(7): Show | 19 | HG00408.hp1 HG00609.hp1 HG02135.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*891dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 892 | INFO_REALIGN_3_PRIME | chr1 | 181799723 | ||||
| chr1:181799811
|
C | CAG | 96 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | 160 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(157): Show |
3_prime_UTR_variant | MODIFIER | c.*978_*979dupAG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 980 | INFO_REALIGN_3_PRIME | chr1 | 181799811 | ||||
| chr1:181799849
|
G | A | 77 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | 132 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(129): Show |
3_prime_UTR_variant | MODIFIER | c.*1015G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1015 | chr1 | 181799849 | |||||
| chr1:181799851
|
G | C | 10 | a0001c0001t0065a0001c0001t0066a0001c0005t0030others(7): Show | 11 | HG02615.hp1 HG02615.hp2 HG02717.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1017G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1017 | chr1 | 181799851 | |||||
| chr1:181800021
|
C | T | 3 | a0001c0001t0019a0002c0002t0020a0005c0013t0020 | 4 | HG01069.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1187C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1187 | chr1 | 181800021 | |||||
| chr1:181800151
|
G | A | 9 | a0001c0001t0009a0001c0001t0013a0001c0001t0017others(6): Show | 14 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1317G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1317 | chr1 | 181800151 | |||||
| chr1:181800341
|
T | C | 1 | a0002c0002t0034 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1507T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1507 | chr1 | 181800341 | |||||
| chr1:181800511
|
T | G | 1 | a0001c0004t0045 | 1 | HG02071.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1677T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1677 | chr1 | 181800511 | |||||
| chr1:181800708
|
G | T | 1 | a0003c0014t0069 | 1 | HG02895.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1874G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 1874 | chr1 | 181800708 | |||||
| chr1:181800852
|
C | T | 1 | a0002c0002t0028 | 2 | HG02015.hp2 NA18977.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2018C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2018 | chr1 | 181800852 | |||||
| chr1:181800853
|
G | A | 1 | a0003c0014t0069 | 1 | HG02895.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2019G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2019 | chr1 | 181800853 | |||||
| chr1:181800853
|
G | T | 1 | a0001c0001t0064 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2019G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2019 | chr1 | 181800853 | |||||
| chr1:181801018
|
G | A | 1 | a0004c0007t0046 | 1 | HG01261.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2184G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2184 | chr1 | 181801018 | |||||
| chr1:181801397
|
C | T | 5 | a0001c0005t0026a0001c0005t0032a0002c0002t0026others(2): Show | 6 | HG01243.hp1 HG02258.hp1 HG02723.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2563C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2563 | chr1 | 181801397 | |||||
| chr1:181801401
|
A | C | 7 | a0001c0001t0005a0001c0001t0043a0001c0001t0063others(4): Show | 15 | HG00408.hp1 HG00609.hp1 HG01109.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2567A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2567 | chr1 | 181801401 | |||||
| chr1:181801599
|
G | T | 31 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(28): Show | 55 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*2765G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2765 | chr1 | 181801599 | |||||
| chr1:181801819
|
C | T | 5 | a0001c0005t0026a0001c0005t0032a0002c0002t0026others(2): Show | 6 | HG01243.hp1 HG02258.hp1 HG02723.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2985C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 2985 | chr1 | 181801819 | |||||
| chr1:181801835
|
A | G | 1 | a0012c0016t0055 | 1 | HG01169.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3001A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3001 | chr1 | 181801835 | |||||
| chr1:181801860
|
G | A | 5 | a0001c0001t0005a0001c0001t0043a0001c0032t0062others(2): Show | 13 | HG00408.hp1 HG00609.hp1 HG01109.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*3026G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3026 | chr1 | 181801860 | |||||
| chr1:181801962
|
T | TTTAG | 15 | a0001c0001t0004a0001c0001t0016a0001c0001t0039others(12): Show | 24 | HG00639.hp1 HG00673.hp1 HG01099.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*3132_*3135dupGTTA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3136 | INFO_REALIGN_3_PRIME | chr1 | 181801962 | ||||
| chr1:181802089
|
C | T | 10 | a0001c0001t0003a0001c0004t0054a0001c0009t0078others(7): Show | 25 | HG00597.hp2 HG00639.hp2 HG00735.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*3255C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3255 | chr1 | 181802089 | |||||
| chr1:181802531
|
C | A | 6 | a0001c0005t0026a0001c0005t0032a0001c0026t0042others(3): Show | 7 | HG01243.hp1 HG02258.hp1 HG02723.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3697C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3697 | chr1 | 181802531 | |||||
| chr1:181802698
|
A | C | 63 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | 117 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
3_prime_UTR_variant | MODIFIER | c.*3864A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3864 | chr1 | 181802698 | |||||
| chr1:181802742
|
T | C | 1 | a0001c0001t0019 | 2 | HG03516.hp1 NA19043.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3908T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 3908 | chr1 | 181802742 | |||||
| chr1:181802856
|
A | G | 16 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(13): Show | 32 | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(29): Show |
3_prime_UTR_variant | MODIFIER | c.*4022A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4022 | chr1 | 181802856 | |||||
| chr1:181802960
|
G | A | 5 | a0001c0001t0010a0001c0004t0010a0001c0015t0047others(2): Show | 5 | HG01099.hp1 HG02809.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4126G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4126 | chr1 | 181802960 | |||||
| chr1:181802976
|
G | A | 1 | a0004c0007t0046 | 1 | HG01261.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4142G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4142 | chr1 | 181802976 | |||||
| chr1:181802990
|
T | C | 10 | a0001c0001t0005a0001c0001t0043a0001c0005t0026others(7): Show | 19 | HG00408.hp1 HG00609.hp1 HG01243.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*4156T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4156 | chr1 | 181802990 | |||||
| chr1:181803164
|
C | T | 12 | a0001c0001t0003a0001c0001t0007a0001c0004t0054others(9): Show | 32 | HG00597.hp2 HG00639.hp2 HG00735.hp2 others(29): Show |
3_prime_UTR_variant | MODIFIER | c.*4330C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4330 | chr1 | 181803164 | |||||
| chr1:181803186
|
A | G | 2 | a0001c0001t0063a0001c0009t0040 | 2 | HG02280.hp2 HG02723.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4352A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4352 | chr1 | 181803186 | |||||
| chr1:181803206
|
C | T | 1 | a0003c0003t0061 | 1 | HG01884.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4372C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4372 | chr1 | 181803206 | |||||
| chr1:181803262
|
G | A | 1 | a0002c0002t0053 | 1 | HG01517.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4428G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4428 | chr1 | 181803262 | |||||
| chr1:181803270
|
G | GATGCAGG others(10): Show |
31 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(28): Show | 42 | HG00438.hp2 HG00673.hp2 HG01069.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*4436_*4437insATGC others(13): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4437 | chr1 | 181803270 | |||||
| chr1:181803271
|
C | G | 31 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(28): Show | 42 | HG00438.hp2 HG00673.hp2 HG01069.hp2 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*4437C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4437 | chr1 | 181803271 | |||||
| chr1:181803310
|
T | C | 1 | a0001c0022t0056 | 1 | HG03704.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4476T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4476 | chr1 | 181803310 | |||||
| chr1:181803413
|
C | T | 1 | a0001c0026t0042 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4579C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4579 | chr1 | 181803413 | |||||
| chr1:181803423
|
T | C | 10 | a0001c0001t0009a0001c0001t0017a0001c0001t0048others(7): Show | 16 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*4589T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4589 | chr1 | 181803423 | |||||
| chr1:181803578
|
G | C | 2 | a0002c0002t0021a0012c0016t0055 | 3 | HG00639.hp2 HG01169.hp1 NA20300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4744G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4744 | chr1 | 181803578 | |||||
| chr1:181803592
|
C | T | 2 | a0001c0001t0016a0001c0004t0016 | 3 | HG02257.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4758C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4758 | chr1 | 181803592 | |||||
| chr1:181803643
|
A | G | 1 | a0001c0032t0062 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4809A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4809 | chr1 | 181803643 | |||||
| chr1:181803828
|
G | A | 2 | a0001c0001t0066a0003c0014t0069 | 2 | HG02895.hp2 HG02965.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4994G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 4994 | chr1 | 181803828 | |||||
| chr1:181803901
|
T | C | 2 | a0001c0001t0024a0001c0005t0024 | 2 | HG01109.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5067T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5067 | chr1 | 181803901 | |||||
| chr1:181803982
|
G | A | 1 | a0002c0002t0057 | 1 | HG04199.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5148G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5148 | chr1 | 181803982 | |||||
| chr1:181804230
|
C | G | 11 | a0001c0001t0008a0001c0001t0010a0001c0001t0074others(8): Show | 14 | HG01074.hp1 HG01099.hp1 HG01884.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*5396C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5396 | chr1 | 181804230 | |||||
| chr1:181804301
|
T | C | 1 | a0001c0015t0047 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5467T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5467 | chr1 | 181804301 | |||||
| chr1:181804328
|
G | A | 1 | a0002c0002t0035 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5494G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5494 | chr1 | 181804328 | |||||
| chr1:181804577
|
A | G | 2 | a0001c0005t0071a0001c0006t0075 | 2 | HG02886.hp2 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*5743A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5743 | chr1 | 181804577 | |||||
| chr1:181804787
|
T | C | 1 | a0001c0001t0058 | 1 | HG04115.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5953T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5953 | chr1 | 181804787 | |||||
| chr1:181804812
|
A | G | 11 | a0001c0001t0003a0001c0001t0007a0001c0004t0054others(8): Show | 31 | HG00597.hp2 HG00639.hp2 HG00735.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*5978A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 5978 | chr1 | 181804812 | |||||
| chr1:181804882
|
A | G | 24 | a0001c0001t0001a0001c0001t0014a0001c0001t0024others(21): Show | 36 | HG00280.hp1 HG00597.hp1 HG00642.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*6048A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6048 | chr1 | 181804882 | |||||
| chr1:181804913
|
GTCTC | G | 2 | a0001c0001t0074a0002c0002t0050 | 2 | HG02559.hp2 NA20129.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6083_*6086delCTCT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6083 | INFO_REALIGN_3_PRIME | chr1 | 181804913 | ||||
| chr1:181804924
|
T | TA | 8 | a0001c0001t0011a0001c0001t0063a0001c0001t0076others(5): Show | 10 | HG01358.hp2 HG01361.hp2 HG02040.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*6104dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6105 | INFO_REALIGN_3_PRIME | chr1 | 181804924 | ||||
| chr1:181804924
|
TA | T | 5 | a0001c0001t0009a0001c0001t0017a0002c0002t0015others(2): Show | 11 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*6104delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6104 | INFO_REALIGN_3_PRIME | chr1 | 181804924 | ||||
| chr1:181805135
|
C | G | 46 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | 85 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(82): Show |
3_prime_UTR_variant | MODIFIER | c.*6301C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6301 | chr1 | 181805135 | |||||
| chr1:181805182
|
T | A | 1 | a0001c0001t0043 | 1 | NA20905.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6348T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6348 | chr1 | 181805182 | |||||
| chr1:181805234
|
A | C | 95 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | 159 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*6400A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6400 | chr1 | 181805234 | |||||
| chr1:181805723
|
G | A | 4 | a0001c0001t0013a0001c0001t0033a0002c0002t0013others(1): Show | 5 | HG02132.hp2 HG02738.hp2 HG03017.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*6889G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6889 | chr1 | 181805723 | |||||
| chr1:181805749
|
G | A | 2 | a0001c0005t0026a0002c0002t0026 | 2 | HG02258.hp1 HG02922.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6915G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 6915 | chr1 | 181805749 | |||||
| chr1:181805916
|
C | A | 95 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | 159 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*7082C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7082 | chr1 | 181805916 | |||||
| chr1:181805926
|
C | T | 1 | a0001c0001t0059 | 1 | HG03492.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7092C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7092 | chr1 | 181805926 | |||||
| chr1:181806123
|
C | T | 1 | a0001c0001t0063 | 1 | HG02723.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7289C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7289 | chr1 | 181806123 | |||||
| chr1:181806124
|
G | A | 6 | a0001c0001t0009a0001c0001t0017a0001c0001t0070others(3): Show | 12 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*7290G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7290 | chr1 | 181806124 | |||||
| chr1:181806333
|
G | A | 1 | a0001c0001t0064 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7499G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7499 | chr1 | 181806333 | |||||
| chr1:181806454
|
A | C | 1 | a0001c0006t0075 | 1 | HG02886.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7620A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7620 | chr1 | 181806454 | |||||
| chr1:181806489
|
G | A | 1 | a0010c0023t0077 | 1 | NA18964.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7655G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7655 | chr1 | 181806489 | |||||
| chr1:181806527
|
C | G | 2 | a0001c0001t0025a0001c0006t0025 | 2 | NA18522.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7693C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7693 | chr1 | 181806527 | |||||
| chr1:181806608
|
G | A | 1 | a0001c0004t0054 | 1 | NA19003.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7774G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 7774 | chr1 | 181806608 | |||||
| chr1:181806903
|
A | G | 3 | a0001c0001t0063a0001c0001t0066a0003c0014t0069 | 3 | HG02723.hp2 HG02895.hp2 HG02965.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8069A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8069 | chr1 | 181806903 | |||||
| chr1:181807129
|
T | TA | 27 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(24): Show | 61 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(58): Show |
3_prime_UTR_variant | MODIFIER | c.*8309dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8310 | INFO_REALIGN_3_PRIME | chr1 | 181807129 | ||||
| chr1:181807129
|
TA | T | 5 | a0001c0004t0031a0001c0008t0051a0001c0015t0047others(2): Show | 5 | HG01099.hp1 HG01975.hp2 HG01978.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*8309delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8309 | INFO_REALIGN_3_PRIME | chr1 | 181807129 | ||||
| chr1:181807380
|
C | T | 1 | a0001c0001t0017 | 2 | HG01258.hp1 HG01993.hp1 |
3_prime_UTR_variant | MODIFIER | c.*8546C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8546 | chr1 | 181807380 | |||||
| chr1:181807392
|
G | A | 1 | a0003c0003t0022 | 2 | HG03239.hp2 HG03834.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8558G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8558 | chr1 | 181807392 | |||||
| chr1:181807459
|
A | G | 3 | a0001c0001t0063a0001c0001t0066a0003c0014t0069 | 3 | HG02723.hp2 HG02895.hp2 HG02965.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8625A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8625 | chr1 | 181807459 | |||||
| chr1:181807562
|
A | G | 3 | a0001c0001t0063a0001c0001t0066a0003c0014t0069 | 3 | HG02723.hp2 HG02895.hp2 HG02965.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8728A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8728 | chr1 | 181807562 | |||||
| chr1:181807702
|
T | G | 3 | a0001c0001t0063a0001c0001t0066a0003c0014t0069 | 3 | HG02723.hp2 HG02895.hp2 HG02965.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8868T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8868 | chr1 | 181807702 | |||||
| chr1:181807783
|
G | A | 8 | a0001c0001t0013a0001c0001t0019a0001c0001t0033others(5): Show | 10 | HG01069.hp2 HG02132.hp2 HG02630.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*8949G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 48/48 | 8949 | chr1 | 181807783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:181484136
|
A | C | 1 | a0001c0011t0004g0206 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.266+126A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484136 | ||||||
| chr1:181484329
|
G | A | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.266+319G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484329 | ||||||
| chr1:181484369
|
T | TAATC | 2 | a0001c0005t0024g0003a0001c0012t0038g0002 | 2 | HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.266+362_266+363ins others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181484369 | |||||
| chr1:181484373
|
T | C | 54 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0006g0042others(51): Show | 54 | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.266+363T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484373 | ||||||
| chr1:181484425
|
A | G | 54 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0006g0042others(51): Show | 54 | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.266+415A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484425 | ||||||
| chr1:181484672
|
G | C | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.266+662G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484672 | ||||||
| chr1:181484792
|
A | G | 1 | a0001c0006t0002g0205 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.266+782A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181484792 | ||||||
| chr1:181485511
|
T | G | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.266+1501T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181485511 | ||||||
| chr1:181485822
|
G | A | 1 | a0006c0018t0001g0056 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.266+1812G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181485822 | ||||||
| chr1:181485886
|
G | T | 5 | a0001c0001t0058g0204a0002c0002t0003g0201a0002c0002t0003g0202others(2): Show | 5 | HG01123.hp1 HG03669.hp2 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.266+1876G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181485886 | ||||||
| chr1:181486007
|
G | A | 8 | a0001c0001t0004g0058a0001c0001t0012g0060a0001c0001t0025g0057others(5): Show | 8 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.266+1997G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181486007 | ||||||
| chr1:181486343
|
G | C | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.266+2333G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181486343 | ||||||
| chr1:181486438
|
T | C | 3 | a0001c0001t0011g0068a0001c0004t0010g0067a0003c0003t0072g0066 | 3 | HG02818.hp1 HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.266+2428T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181486438 | ||||||
| chr1:181486541
|
C | A | 1 | a0002c0002t0007g0069 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.266+2531C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181486541 | ||||||
| chr1:181486583
|
G | A | 4 | a0001c0001t0066g0070a0001c0004t0002g0071a0001c0004t0004g0072others(1): Show | 4 | HG00735.hp1 HG01099.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+2573G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181486583 | ||||||
| chr1:181487023
|
AT | A | 51 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0078others(48): Show | 51 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.266+3030delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181487023 | |||||
| chr1:181487023
|
ATT | A | 9 | a0001c0001t0010g0028a0001c0001t0012g0005a0001c0004t0008g0032others(6): Show | 9 | HG01074.hp1 HG01975.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.266+3029_266+3030d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181487023 | |||||
| chr1:181487023
|
ATTT | A | 22 | a0001c0001t0005g0015a0001c0001t0063g0026a0001c0001t0064g0013others(19): Show | 22 | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(19): Show |
intron_variant | MODIFIER | c.266+3028_266+3030d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181487023 | |||||
| chr1:181487146
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.266+3136G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487146 | ||||||
| chr1:181487266
|
T | C | 4 | a0001c0001t0066g0070a0001c0004t0002g0071a0001c0004t0004g0072others(1): Show | 4 | HG00735.hp1 HG01099.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+3256T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487266 | ||||||
| chr1:181487394
|
A | C | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.266+3384A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487394 | ||||||
| chr1:181487397
|
T | C | 20 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(17): Show | 20 | HG00597.hp2 HG00673.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.266+3387T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487397 | ||||||
| chr1:181487496
|
G | A | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.266+3486G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487496 | ||||||
| chr1:181487564
|
T | C | 79 | a0001c0001t0003g0044a0001c0001t0004g0078a0001c0001t0005g0015others(76): Show | 79 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.266+3554T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487564 | ||||||
| chr1:181487713
|
C | G | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.266+3703C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487713 | ||||||
| chr1:181487909
|
A | C | 77 | a0001c0001t0003g0044a0001c0001t0004g0078a0001c0001t0005g0015others(74): Show | 77 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.266+3899A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181487909 | ||||||
| chr1:181488194
|
C | T | 1 | a0001c0004t0002g0199 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.266+4184C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488194 | ||||||
| chr1:181488373
|
G | C | 1 | a0001c0001t0019g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.266+4363G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488373 | ||||||
| chr1:181488378
|
G | T | 4 | a0001c0001t0063g0026a0001c0015t0047g0027a0001c0026t0042g0025others(1): Show | 4 | HG01099.hp1 HG02723.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.266+4368G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488378 | ||||||
| chr1:181488435
|
C | A | 4 | a0001c0001t0066g0070a0001c0004t0002g0071a0001c0004t0004g0072others(1): Show | 4 | HG00735.hp1 HG01099.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+4425C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488435 | ||||||
| chr1:181488603
|
A | G | 79 | a0001c0001t0003g0044a0001c0001t0004g0078a0001c0001t0005g0015others(76): Show | 79 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.266+4593A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488603 | ||||||
| chr1:181488812
|
C | G | 1 | a0001c0004t0016g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.266+4802C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181488812 | ||||||
| chr1:181489030
|
A | T | 5 | a0001c0001t0002g0195a0002c0002t0050g0197a0003c0014t0069g0196others(2): Show | 5 | HG02451.hp2 HG02895.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.266+5020A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489030 | ||||||
| chr1:181489174
|
C | T | 14 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(11): Show | 14 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.266+5164C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489174 | ||||||
| chr1:181489485
|
C | T | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.266+5475C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489485 | ||||||
| chr1:181489704
|
G | A | 20 | a0001c0001t0011g0068a0001c0001t0013g0105a0001c0001t0024g0112others(17): Show | 20 | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.266+5694G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489704 | ||||||
| chr1:181489705
|
A | T | 20 | a0001c0001t0011g0068a0001c0001t0013g0105a0001c0001t0024g0112others(17): Show | 20 | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.266+5695A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489705 | ||||||
| chr1:181489828
|
C | T | 10 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(7): Show | 10 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.266+5818C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489828 | ||||||
| chr1:181489836
|
C | A | 2 | a0001c0005t0024g0003a0001c0012t0038g0002 | 2 | HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.266+5826C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181489836 | ||||||
| chr1:181490132
|
G | A | 1 | a0002c0030t0079g0006 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.266+6122G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181490132 | ||||||
| chr1:181490238
|
C | G | 2 | a0001c0005t0032g0029a0001c0008t0008g0030 | 2 | HG01074.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.266+6228C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181490238 | ||||||
| chr1:181490252
|
G | A | 76 | a0001c0001t0003g0044a0001c0001t0004g0078a0001c0001t0005g0015others(73): Show | 76 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.266+6242G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181490252 | ||||||
| chr1:181490378
|
T | TA | 7 | a0001c0001t0011g0038a0001c0001t0012g0005a0001c0001t0070g0037others(4): Show | 7 | HG01243.hp1 HG01884.hp2 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.266+6381dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181490378 | |||||
| chr1:181490399
|
C | T | 1 | a0001c0008t0008g0030 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.266+6389C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181490399 | ||||||
| chr1:181490543
|
G | GT | 52 | a0001c0001t0004g0078a0001c0001t0005g0086a0001c0001t0005g0089others(49): Show | 52 | HG00408.hp1 HG00609.hp1 HG00609.hp2 others(49): Show |
intron_variant | MODIFIER | c.266+6551dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181490543 | |||||
| chr1:181490543
|
G | GTT | 46 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0006g0042others(43): Show | 46 | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(43): Show |
intron_variant | MODIFIER | c.266+6550_266+6551d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181490543 | |||||
| chr1:181490543
|
G | GTTT | 6 | a0001c0015t0047g0027a0002c0002t0001g0022a0002c0002t0001g0023others(3): Show | 6 | HG00280.hp1 HG00597.hp2 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.266+6549_266+6551d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181490543 | |||||
| chr1:181490543
|
GT | G | 10 | a0001c0001t0004g0058a0001c0001t0013g0105a0001c0001t0025g0057others(7): Show | 10 | HG00323.hp1 HG00639.hp1 HG01517.hp2 others(7): Show |
intron_variant | MODIFIER | c.266+6551delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181490543 | |||||
| chr1:181490624
|
G | T | 27 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(24): Show | 27 | HG00597.hp2 HG00673.hp2 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.266+6614G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181490624 | ||||||
| chr1:181491046
|
G | C | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.266+7036G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491046 | ||||||
| chr1:181491228
|
T | G | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.266+7218T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491228 | ||||||
| chr1:181491270
|
A | T | 1 | a0002c0002t0002g0191 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.266+7260A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491270 | ||||||
| chr1:181491285
|
C | G | 2 | a0001c0001t0019g0034a0003c0010t0002g0035 | 2 | HG02965.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.266+7275C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491285 | ||||||
| chr1:181491286
|
C | G | 5 | a0001c0001t0011g0038a0001c0001t0070g0037a0001c0008t0008g0039others(2): Show | 5 | HG01243.hp1 HG01884.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.266+7276C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491286 | ||||||
| chr1:181491610
|
C | G | 5 | a0001c0001t0002g0001a0001c0001t0065g0173a0002c0002t0026g0175others(2): Show | 5 | HG01074.hp2 HG02258.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.266+7600C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491610 | ||||||
| chr1:181491711
|
A | G | 1 | a0002c0002t0015g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.266+7701A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491711 | ||||||
| chr1:181491790
|
A | T | 4 | a0001c0001t0005g0172a0003c0003t0005g0170a0003c0003t0005g0190others(1): Show | 4 | HG01071.hp1 HG02135.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.266+7780A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491790 | ||||||
| chr1:181491946
|
C | G | 2 | a0001c0004t0031g0095a0003c0003t0001g0096 | 2 | HG01978.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.266+7936C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181491946 | ||||||
| chr1:181492433
|
A | G | 10 | a0001c0001t0004g0058a0001c0001t0012g0060a0001c0001t0025g0057others(7): Show | 10 | HG01074.hp1 HG01192.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.266+8423A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181492433 | ||||||
| chr1:181492498
|
A | G | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.266+8488A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181492498 | ||||||
| chr1:181492616
|
C | T | 1 | a0002c0002t0049g0169 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.266+8606C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181492616 | ||||||
| chr1:181492687
|
C | T | 1 | a0001c0001t0063g0026 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.266+8677C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181492687 | ||||||
| chr1:181492926
|
A | G | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.266+8916A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181492926 | ||||||
| chr1:181493010
|
C | T | 1 | a0001c0001t0006g0189 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.266+9000C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493010 | ||||||
| chr1:181493313
|
A | C | 4 | a0001c0001t0011g0038a0001c0001t0070g0037a0001c0008t0008g0039others(1): Show | 4 | HG01243.hp1 HG01884.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+9303A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493313 | ||||||
| chr1:181493326
|
C | T | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.266+9316C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493326 | ||||||
| chr1:181493466
|
C | T | 1 | a0001c0001t0007g0188 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.266+9456C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493466 | ||||||
| chr1:181493506
|
A | G | 1 | a0007c0019t0041g0116 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.266+9496A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493506 | ||||||
| chr1:181493606
|
G | A | 1 | a0001c0006t0004g0102 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.266+9596G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493606 | ||||||
| chr1:181493625
|
G | T | 4 | a0001c0001t0058g0204a0002c0002t0003g0201a0002c0002t0003g0202others(1): Show | 4 | HG03669.hp2 HG03710.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+9615G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493625 | ||||||
| chr1:181493790
|
A | G | 92 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0058others(89): Show | 92 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.266+9780A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493790 | ||||||
| chr1:181493916
|
A | G | 4 | a0001c0001t0011g0038a0001c0001t0070g0037a0001c0008t0008g0039others(1): Show | 4 | HG01243.hp1 HG01884.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.266+9906A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493916 | ||||||
| chr1:181493980
|
C | G | 24 | a0001c0001t0005g0015a0001c0001t0012g0005a0001c0001t0019g0052others(21): Show | 24 | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.266+9970C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181493980 | ||||||
| chr1:181494019
|
G | T | 3 | a0001c0001t0019g0034a0001c0009t0018g0041a0003c0010t0002g0035 | 3 | HG02257.hp2 HG02965.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.266+10009G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181494019 | ||||||
| chr1:181494316
|
G | GT | 10 | a0001c0001t0002g0001a0001c0001t0012g0005a0001c0001t0013g0187others(7): Show | 10 | HG01074.hp2 HG02258.hp1 HG02738.hp2 others(7): Show |
intron_variant | MODIFIER | c.266+10321dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181494316 | |||||
| chr1:181494316
|
G | GTT | 6 | a0001c0001t0001g0166a0001c0006t0004g0117a0001c0008t0008g0164others(3): Show | 6 | HG00597.hp1 HG02040.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.266+10320_266+1032 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181494316 | |||||
| chr1:181494321
|
T | G | 10 | a0001c0001t0004g0058a0001c0001t0012g0060a0001c0001t0025g0057others(7): Show | 10 | HG01074.hp1 HG01192.hp1 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.266+10311T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181494321 | ||||||
| chr1:181494363
|
T | C | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.266+10353T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181494363 | ||||||
| chr1:181494679
|
C | A | 12 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(9): Show | 12 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.266+10669C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181494679 | ||||||
| chr1:181494988
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.266+10978C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181494988 | ||||||
| chr1:181495065
|
A | G | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.266+11055A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495065 | ||||||
| chr1:181495275
|
A | AG | 34 | a0001c0001t0004g0078a0001c0001t0005g0086a0001c0001t0005g0089others(31): Show | 34 | HG00323.hp2 HG00408.hp1 HG00741.hp1 others(31): Show |
intron_variant | MODIFIER | c.266+11270dupG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181495275 | |||||
| chr1:181495493
|
A | G | 7 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(4): Show | 7 | HG00642.hp1 HG01169.hp1 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.266+11483A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495493 | ||||||
| chr1:181495527
|
T | C | 16 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0006g0050others(13): Show | 16 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.266+11517T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495527 | ||||||
| chr1:181495664
|
A | G | 2 | a0001c0005t0024g0003a0001c0012t0038g0002 | 2 | HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.266+11654A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495664 | ||||||
| chr1:181495738
|
C | A | 1 | a0002c0002t0007g0090 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.266+11728C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495738 | ||||||
| chr1:181495839
|
A | C | 5 | a0001c0001t0011g0038a0001c0001t0070g0037a0001c0008t0008g0039others(2): Show | 5 | HG01243.hp1 HG01884.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.266+11829A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495839 | ||||||
| chr1:181495927
|
A | G | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.266+11917A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495927 | ||||||
| chr1:181495930
|
C | G | 1 | a0002c0002t0002g0155 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.266+11920C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181495930 | ||||||
| chr1:181496037
|
G | A | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.266+12027G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496037 | ||||||
| chr1:181496218
|
T | C | 92 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0058others(89): Show | 92 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.266+12208T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496218 | ||||||
| chr1:181496345
|
T | C | 1 | a0001c0001t0007g0121 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.266+12335T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496345 | ||||||
| chr1:181496459
|
C | T | 1 | a0002c0002t0002g0155 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.266+12449C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496459 | ||||||
| chr1:181496721
|
G | A | 1 | a0002c0030t0079g0006 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.266+12711G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496721 | ||||||
| chr1:181496755
|
C | T | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.266+12745C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181496755 | ||||||
| chr1:181497050
|
G | A | 2 | a0001c0001t0070g0037a0001c0008t0008g0039 | 2 | HG01884.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.266+13040G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497050 | ||||||
| chr1:181497414
|
G | A | 93 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(90): Show | 93 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.267-13063G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497414 | ||||||
| chr1:181497426
|
CAT | C | 2 | a0001c0005t0024g0003a0001c0012t0038g0002 | 2 | HG03225.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.267-13047_267-1304 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181497426 | |||||
| chr1:181497473
|
G | C | 1 | a0002c0002t0002g0191 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.267-13004G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497473 | ||||||
| chr1:181497717
|
A | G | 2 | a0001c0001t0059g0107a0003c0003t0001g0106 | 2 | HG03492.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.267-12760A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497717 | ||||||
| chr1:181497804
|
G | A | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-12673G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497804 | ||||||
| chr1:181497970
|
T | C | 12 | a0001c0001t0002g0195a0001c0001t0019g0034a0001c0001t0048g0054others(9): Show | 12 | HG01074.hp1 HG01884.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.267-12507T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497970 | ||||||
| chr1:181497976
|
G | C | 143 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(140): Show | 143 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.267-12501G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497976 | ||||||
| chr1:181497977
|
C | A | 12 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(9): Show | 12 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.267-12500C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497977 | ||||||
| chr1:181497977
|
C | G | 1 | a0001c0005t0018g0061 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.267-12500C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497977 | ||||||
| chr1:181497978
|
C | G | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.267-12499C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181497978 | ||||||
| chr1:181498069
|
C | T | 23 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0013g0187others(20): Show | 23 | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.267-12408C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498069 | ||||||
| chr1:181498221
|
G | T | 1 | a0001c0001t0007g0154 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.267-12256G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498221 | ||||||
| chr1:181498226
|
G | A | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.267-12251G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498226 | ||||||
| chr1:181498389
|
G | A | 9 | a0001c0001t0002g0195a0001c0001t0048g0054a0001c0001t0065g0173others(6): Show | 9 | HG01074.hp1 HG01884.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.267-12088G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498389 | ||||||
| chr1:181498551
|
T | C | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-11926T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498551 | ||||||
| chr1:181498566
|
T | C | 1 | a0003c0003t0061g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.267-11911T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498566 | ||||||
| chr1:181498650
|
A | G | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.267-11827A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498650 | ||||||
| chr1:181498705
|
G | T | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.267-11772G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498705 | ||||||
| chr1:181498723
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-11754A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498723 | ||||||
| chr1:181498793
|
C | T | 8 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0073g0114others(5): Show | 8 | HG01243.hp1 HG02630.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.267-11684C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498793 | ||||||
| chr1:181498896
|
T | C | 3 | a0001c0001t0074g0109a0001c0005t0071g0110a0002c0002t0050g0197 | 3 | HG02559.hp2 NA19030.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.267-11581T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498896 | ||||||
| chr1:181498948
|
G | A | 14 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(11): Show | 14 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.267-11529G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181498948 | ||||||
| chr1:181499153
|
C | T | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.267-11324C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499153 | ||||||
| chr1:181499191
|
A | T | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.267-11286A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499191 | ||||||
| chr1:181499281
|
A | G | 5 | a0001c0001t0016g0133a0001c0004t0002g0101a0001c0004t0002g0160others(2): Show | 5 | HG00642.hp1 HG01169.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.267-11196A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499281 | ||||||
| chr1:181499283
|
T | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-11194T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499283 | ||||||
| chr1:181499353
|
C | T | 11 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(8): Show | 11 | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.267-11124C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499353 | ||||||
| chr1:181499500
|
C | T | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-10977C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499500 | ||||||
| chr1:181499686
|
A | G | 7 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0008t0008g0030others(4): Show | 7 | HG01074.hp1 HG01884.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.267-10791A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499686 | ||||||
| chr1:181499699
|
C | A | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-10778C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181499699 | ||||||
| chr1:181500025
|
G | T | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.267-10452G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500025 | ||||||
| chr1:181500336
|
G | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.267-10141G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500336 | ||||||
| chr1:181500387
|
A | G | 14 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(11): Show | 14 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.267-10090A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500387 | ||||||
| chr1:181500418
|
C | A | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-10059C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500418 | ||||||
| chr1:181500476
|
C | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-10001C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500476 | ||||||
| chr1:181500497
|
G | A | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-9980G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500497 | ||||||
| chr1:181500821
|
A | C | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.267-9656A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181500821 | ||||||
| chr1:181501047
|
G | A | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-9430G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501047 | ||||||
| chr1:181501082
|
G | T | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-9395G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501082 | ||||||
| chr1:181501185
|
C | T | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.267-9292C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501185 | ||||||
| chr1:181501281
|
G | A | 14 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(11): Show | 14 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.267-9196G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501281 | ||||||
| chr1:181501455
|
G | T | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.267-9022G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501455 | ||||||
| chr1:181501527
|
C | T | 1 | a0001c0001t0059g0107 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.267-8950C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501527 | ||||||
| chr1:181501712
|
G | C | 31 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(28): Show | 31 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.267-8765G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181501712 | ||||||
| chr1:181501720
|
A | AAGAGAG | 14 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(11): Show | 14 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.267-8746_267-8741d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181501720 | |||||
| chr1:181501759
|
GTGTC | G | 11 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.267-8714_267-8711d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181501759 | |||||
| chr1:181502356
|
C | T | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-8121C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181502356 | ||||||
| chr1:181502979
|
G | A | 1 | a0004c0007t0001g0171 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.267-7498G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181502979 | ||||||
| chr1:181503207
|
C | T | 1 | a0001c0001t0009g0132 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.267-7270C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503207 | ||||||
| chr1:181503260
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.267-7217C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503260 | ||||||
| chr1:181503292
|
T | A | 16 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0123others(13): Show | 16 | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.267-7185T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503292 | ||||||
| chr1:181503786
|
T | A | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-6691T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503786 | ||||||
| chr1:181503835
|
T | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.267-6642T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503835 | ||||||
| chr1:181503884
|
T | C | 110 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(107): Show | 110 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.267-6593T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503884 | ||||||
| chr1:181503923
|
A | G | 1 | a0002c0029t0001g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.267-6554A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181503923 | ||||||
| chr1:181504089
|
G | A | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-6388G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504089 | ||||||
| chr1:181504190
|
C | T | 2 | a0001c0001t0012g0005a0001c0009t0040g0141 | 2 | HG02280.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.267-6287C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504190 | ||||||
| chr1:181504218
|
G | A | 52 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0003g0134others(49): Show | 52 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(49): Show |
intron_variant | MODIFIER | c.267-6259G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504218 | ||||||
| chr1:181504254
|
C | T | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.267-6223C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504254 | ||||||
| chr1:181504381
|
T | C | 1 | a0001c0006t0025g0111 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.267-6096T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504381 | ||||||
| chr1:181504417
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-6060C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504417 | ||||||
| chr1:181504418
|
G | A | 11 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(8): Show | 11 | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.267-6059G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504418 | ||||||
| chr1:181504631
|
C | A | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-5846C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504631 | ||||||
| chr1:181504802
|
G | A | 12 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0012g0005others(9): Show | 12 | HG00597.hp2 HG01258.hp1 HG01993.hp1 others(9): Show |
intron_variant | MODIFIER | c.267-5675G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504802 | ||||||
| chr1:181504812
|
A | G | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-5665A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504812 | ||||||
| chr1:181504909
|
AT | A | 2 | a0001c0006t0002g0205a0009c0021t0002g0098 | 2 | HG00323.hp1 HG00323.hp2 |
intron_variant | MODIFIER | c.267-5567delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504909 | ||||||
| chr1:181504977
|
G | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-5500G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181504977 | ||||||
| chr1:181505074
|
G | C | 6 | a0001c0001t0003g0134a0001c0001t0006g0123a0001c0001t0009g0132others(3): Show | 6 | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(3): Show |
intron_variant | MODIFIER | c.267-5403G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505074 | ||||||
| chr1:181505080
|
T | C | 1 | a0001c0001t0006g0183 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.267-5397T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505080 | ||||||
| chr1:181505139
|
C | T | 21 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(18): Show | 21 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.267-5338C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505139 | ||||||
| chr1:181505142
|
A | G | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.267-5335A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505142 | ||||||
| chr1:181505203
|
T | G | 32 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(29): Show | 32 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.267-5274T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505203 | ||||||
| chr1:181505324
|
C | T | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.267-5153C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505324 | ||||||
| chr1:181505332
|
C | T | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.267-5145C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505332 | ||||||
| chr1:181505395
|
G | A | 10 | a0001c0001t0002g0195a0001c0001t0048g0054a0001c0001t0065g0173others(7): Show | 10 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-5082G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505395 | ||||||
| chr1:181505421
|
G | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-5056G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505421 | ||||||
| chr1:181505490
|
G | C | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.267-4987G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505490 | ||||||
| chr1:181505539
|
C | T | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-4938C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505539 | ||||||
| chr1:181505649
|
C | T | 1 | a0001c0006t0004g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.267-4828C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505649 | ||||||
| chr1:181505917
|
G | A | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-4560G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505917 | ||||||
| chr1:181505986
|
A | G | 1 | a0002c0002t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.267-4491A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505986 | ||||||
| chr1:181505997
|
A | T | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.267-4480A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181505997 | ||||||
| chr1:181506142
|
T | A | 12 | a0001c0001t0002g0195a0001c0001t0019g0034a0001c0001t0048g0054others(9): Show | 12 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.267-4335T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506142 | ||||||
| chr1:181506171
|
G | C | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.267-4306G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506171 | ||||||
| chr1:181506184
|
C | T | 1 | a0003c0003t0005g0152 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.267-4293C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506184 | ||||||
| chr1:181506187
|
G | A | 1 | a0001c0001t0006g0183 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.267-4290G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506187 | ||||||
| chr1:181506278
|
G | A | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.267-4199G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506278 | ||||||
| chr1:181506496
|
C | T | 1 | a0003c0003t0005g0190 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.267-3981C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506496 | ||||||
| chr1:181506568
|
A | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-3909A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506568 | ||||||
| chr1:181506638
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.267-3839C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506638 | ||||||
| chr1:181506775
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.267-3702G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181506775 | ||||||
| chr1:181506798
|
AACAGGGC others(317): Show |
A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.267-3677_267-3354d others(2): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181506798 | |||||
| chr1:181507051
|
C | CA | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-3415dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181507051 | |||||
| chr1:181507051
|
CA | C | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-3415delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181507051 | |||||
| chr1:181507142
|
G | A | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.267-3335G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507142 | ||||||
| chr1:181507164
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.267-3313C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507164 | ||||||
| chr1:181507294
|
C | T | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-3183C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507294 | ||||||
| chr1:181507544
|
A | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.267-2933A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507544 | ||||||
| chr1:181507573
|
G | A | 2 | a0001c0001t0006g0189a0002c0002t0049g0169 | 2 | HG00609.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.267-2904G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507573 | ||||||
| chr1:181507605
|
C | T | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.267-2872C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507605 | ||||||
| chr1:181507646
|
C | T | 10 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(7): Show | 10 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.267-2831C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507646 | ||||||
| chr1:181507677
|
G | A | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-2800G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507677 | ||||||
| chr1:181507794
|
T | A | 1 | a0001c0006t0004g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.267-2683T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507794 | ||||||
| chr1:181507847
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.267-2630G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181507847 | ||||||
| chr1:181508125
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.267-2352G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508125 | ||||||
| chr1:181508147
|
T | TTG | 4 | a0001c0001t0002g0195a0001c0009t0018g0041a0002c0002t0020g0129others(1): Show | 4 | HG01069.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.267-2303_267-2302d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTG | 57 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(54): Show | 57 | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(54): Show |
intron_variant | MODIFIER | c.267-2305_267-2302d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTG | 36 | a0001c0001t0004g0078a0001c0001t0006g0050a0001c0001t0008g0179others(33): Show | 36 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.267-2307_267-2302d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTGT others(1): Show |
12 | a0001c0001t0003g0044a0001c0001t0006g0042a0001c0001t0009g0049others(9): Show | 12 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.267-2309_267-2302d others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTGT others(3): Show |
6 | a0001c0005t0024g0003a0002c0002t0001g0023a0002c0002t0015g0048others(3): Show | 6 | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.267-2311_267-2302d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTGT others(5): Show |
18 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0012g0005others(15): Show | 18 | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(15): Show |
intron_variant | MODIFIER | c.267-2313_267-2302d others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTGT others(7): Show |
1 | a0001c0004t0054g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.267-2315_267-2302d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508147
|
T | TTGTGTGT others(9): Show |
1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.267-2317_267-2302d others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | 181508147 | |||||
| chr1:181508181
|
G | A | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-2296G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508181 | ||||||
| chr1:181508205
|
T | C | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp1 others(22): Show |
intron_variant | MODIFIER | c.267-2272T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508205 | ||||||
| chr1:181508342
|
C | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.267-2135C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508342 | ||||||
| chr1:181508389
|
C | T | 67 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0003g0044others(64): Show | 67 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(64): Show |
intron_variant | MODIFIER | c.267-2088C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508389 | ||||||
| chr1:181508473
|
A | G | 6 | a0001c0001t0011g0068a0001c0001t0073g0114a0001c0004t0010g0067others(3): Show | 6 | HG02630.hp1 HG02723.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.267-2004A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508473 | ||||||
| chr1:181508556
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.267-1921G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508556 | ||||||
| chr1:181508619
|
A | G | 1 | a0001c0004t0045g0047 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.267-1858A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508619 | ||||||
| chr1:181508647
|
G | A | 2 | a0001c0001t0004g0058a0001c0001t0025g0057 | 2 | NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.267-1830G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508647 | ||||||
| chr1:181508648
|
C | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.267-1829C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508648 | ||||||
| chr1:181508717
|
T | A | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-1760T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508717 | ||||||
| chr1:181508736
|
G | C | 33 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.267-1741G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508736 | ||||||
| chr1:181508967
|
G | A | 29 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(26): Show | 29 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(26): Show |
intron_variant | MODIFIER | c.267-1510G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181508967 | ||||||
| chr1:181509447
|
G | A | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.267-1030G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181509447 | ||||||
| chr1:181509594
|
T | G | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.267-883T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181509594 | ||||||
| chr1:181509645
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.267-832A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181509645 | ||||||
| chr1:181509649
|
C | T | 32 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(29): Show | 32 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.267-828C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181509649 | ||||||
| chr1:181510096
|
G | A | 1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.267-381G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181510096 | ||||||
| chr1:181510096
|
G | C | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.267-381G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181510096 | ||||||
| chr1:181510352
|
A | C | 3 | a0001c0001t0074g0109a0001c0005t0071g0110a0002c0002t0050g0197 | 3 | HG02559.hp2 NA19030.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.267-125A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | chr1 | 181510352 | ||||||
| chr1:181510770
|
G | A | 15 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0123others(12): Show | 15 | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(12): Show |
intron_variant | MODIFIER | c.372+188G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181510770 | ||||||
| chr1:181510800
|
A | G | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.372+218A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181510800 | ||||||
| chr1:181511047
|
C | T | 22 | a0001c0001t0002g0001a0001c0001t0005g0015a0001c0001t0014g0142others(19): Show | 22 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.373-324C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181511047 | ||||||
| chr1:181511221
|
G | A | 1 | a0001c0005t0030g0178 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.373-150G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181511221 | ||||||
| chr1:181511286
|
C | T | 7 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0008t0008g0030others(4): Show | 7 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.373-85C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181511286 | ||||||
| chr1:181511357
|
C | T | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.373-14C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2/47 | chr1 | 181511357 | ||||||
| chr1:181512173
|
A | G | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+663A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512173 | ||||||
| chr1:181512205
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.512+695A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512205 | ||||||
| chr1:181512314
|
G | A | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+804G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512314 | ||||||
| chr1:181512649
|
T | C | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.512+1139T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512649 | ||||||
| chr1:181512895
|
C | G | 137 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(134): Show |
intron_variant | MODIFIER | c.512+1385C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512895 | ||||||
| chr1:181512961
|
A | T | 3 | a0001c0001t0012g0005a0001c0005t0024g0003a0001c0009t0040g0141 | 3 | HG02280.hp2 NA18906.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.512+1451A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181512961 | ||||||
| chr1:181513059
|
A | G | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+1549A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513059 | ||||||
| chr1:181513127
|
G | A | 36 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(33): Show | 36 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.512+1617G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513127 | ||||||
| chr1:181513347
|
T | A | 1 | a0003c0003t0005g0190 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.512+1837T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513347 | ||||||
| chr1:181513576
|
C | T | 1 | a0002c0002t0015g0017 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.512+2066C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513576 | ||||||
| chr1:181513589
|
G | A | 2 | a0001c0001t0052g0081a0002c0002t0034g0080 | 2 | HG01891.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.512+2079G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513589 | ||||||
| chr1:181513622
|
A | G | 146 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(143): Show | 146 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.512+2112A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513622 | ||||||
| chr1:181513684
|
A | T | 7 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0008t0008g0030others(4): Show | 7 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+2174A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513684 | ||||||
| chr1:181513890
|
T | A | 2 | a0001c0005t0024g0003a0001c0009t0040g0141 | 2 | HG02280.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.512+2380T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181513890 | ||||||
| chr1:181514052
|
G | A | 1 | a0001c0001t0016g0133 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.512+2542G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514052 | ||||||
| chr1:181514101
|
G | A | 55 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(52): Show | 55 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.512+2591G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514101 | ||||||
| chr1:181514296
|
C | T | 9 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(6): Show | 9 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.512+2786C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514296 | ||||||
| chr1:181514314
|
T | A | 55 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(52): Show | 55 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.512+2804T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514314 | ||||||
| chr1:181514420
|
G | C | 9 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(6): Show | 9 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.512+2910G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514420 | ||||||
| chr1:181514502
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.512+2992G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514502 | ||||||
| chr1:181514650
|
G | A | 146 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(143): Show | 146 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.512+3140G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514650 | ||||||
| chr1:181514804
|
C | T | 1 | a0001c0008t0051g0165 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.512+3294C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514804 | ||||||
| chr1:181514813
|
C | T | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.512+3303C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514813 | ||||||
| chr1:181514928
|
T | A | 124 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(121): Show | 124 | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(121): Show |
intron_variant | MODIFIER | c.512+3418T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181514928 | ||||||
| chr1:181515052
|
G | A | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.512+3542G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515052 | ||||||
| chr1:181515066
|
TGACTTTT others(105): Show |
T | 1 | a0001c0001t0006g0151 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.512+3559_512+3670d others(2): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181515066 | |||||
| chr1:181515115
|
G | T | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.512+3605G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515115 | ||||||
| chr1:181515407
|
G | T | 69 | a0001c0001t0002g0195a0001c0001t0003g0130a0001c0001t0004g0058others(66): Show | 69 | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.512+3897G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515407 | ||||||
| chr1:181515478
|
G | A | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.512+3968G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515478 | ||||||
| chr1:181515564
|
C | T | 2 | a0001c0022t0056g0176a0003c0003t0022g0177 | 2 | HG03704.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.512+4054C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515564 | ||||||
| chr1:181515910
|
C | T | 1 | a0002c0002t0002g0155 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.512+4400C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515910 | ||||||
| chr1:181515967
|
A | G | 17 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(14): Show | 17 | HG00609.hp1 HG00741.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.512+4457A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515967 | ||||||
| chr1:181515982
|
CCTGGCTG others(7): Show |
C | 1 | a0002c0002t0003g0144 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.512+4474_512+4487d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181515982 | |||||
| chr1:181515988
|
T | A | 20 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(17): Show | 20 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(17): Show |
intron_variant | MODIFIER | c.512+4478T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181515988 | ||||||
| chr1:181516040
|
G | A | 22 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(19): Show | 22 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(19): Show |
intron_variant | MODIFIER | c.512+4530G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181516040 | ||||||
| chr1:181516165
|
A | G | 6 | a0001c0001t0058g0204a0001c0032t0062g0073a0002c0002t0003g0201others(3): Show | 6 | HG01109.hp2 HG01123.hp1 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.512+4655A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181516165 | ||||||
| chr1:181516329
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.512+4819C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181516329 | ||||||
| chr1:181516343
|
C | CCA | 20 | a0001c0001t0005g0015a0001c0001t0014g0142a0001c0001t0016g0133others(17): Show | 20 | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(17): Show |
intron_variant | MODIFIER | c.512+4874_512+4875d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516343 | |||||
| chr1:181516343
|
C | CCACA | 8 | a0001c0001t0010g0028a0001c0001t0012g0100a0001c0004t0008g0122others(5): Show | 8 | HG01243.hp1 HG01884.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.512+4872_512+4875d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516343 | |||||
| chr1:181516343
|
CCA | C | 61 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0004g0146others(58): Show | 61 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.512+4874_512+4875d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516343 | |||||
| chr1:181516343
|
CCACA | C | 60 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0006g0075others(57): Show | 60 | HG00609.hp1 HG00735.hp1 HG00741.hp1 others(57): Show |
intron_variant | MODIFIER | c.512+4872_512+4875d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516343 | |||||
| chr1:181516343
|
CCACACA | C | 26 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(23): Show | 26 | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.512+4870_512+4875d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516343 | |||||
| chr1:181516473
|
CACAG | C | 74 | a0001c0001t0002g0195a0001c0001t0003g0130a0001c0001t0004g0078others(71): Show | 74 | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.512+4967_512+4970d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181516473 | |||||
| chr1:181516484
|
T | C | 1 | a0001c0009t0018g0041 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.512+4974T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181516484 | ||||||
| chr1:181516657
|
T | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+5147T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181516657 | ||||||
| chr1:181517246
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.512+5736G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181517246 | ||||||
| chr1:181517420
|
G | A | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.512+5910G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181517420 | ||||||
| chr1:181517646
|
C | T | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.512+6136C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181517646 | ||||||
| chr1:181517803
|
A | G | 75 | a0001c0001t0002g0195a0001c0001t0003g0130a0001c0001t0004g0078others(72): Show | 75 | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.512+6293A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181517803 | ||||||
| chr1:181518007
|
C | T | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+6497C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518007 | ||||||
| chr1:181518195
|
A | C | 74 | a0001c0001t0002g0195a0001c0001t0003g0130a0001c0001t0004g0078others(71): Show | 74 | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.512+6685A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518195 | ||||||
| chr1:181518319
|
G | A | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.512+6809G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518319 | ||||||
| chr1:181518361
|
C | T | 4 | a0001c0001t0002g0126a0002c0002t0037g0128a0003c0003t0010g0127others(1): Show | 4 | HG02717.hp1 HG02809.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+6851C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518361 | ||||||
| chr1:181518438
|
C | A | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.512+6928C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518438 | ||||||
| chr1:181518524
|
G | A | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.512+7014G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518524 | ||||||
| chr1:181518550
|
G | A | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.512+7040G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518550 | ||||||
| chr1:181518666
|
G | A | 3 | a0001c0001t0070g0037a0001c0008t0008g0164a0001c0008t0051g0165 | 3 | NA18906.hp1 NA19240.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.512+7156G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518666 | ||||||
| chr1:181518675
|
T | C | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.512+7165T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518675 | ||||||
| chr1:181518752
|
A | C | 5 | a0001c0001t0063g0026a0001c0005t0032g0029a0001c0015t0047g0027others(2): Show | 5 | HG01099.hp1 HG02723.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.512+7242A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518752 | ||||||
| chr1:181518824
|
C | T | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.512+7314C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181518824 | ||||||
| chr1:181519004
|
A | C | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+7494A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519004 | ||||||
| chr1:181519035
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.512+7525G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519035 | ||||||
| chr1:181519076
|
T | G | 151 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(148): Show | 151 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.512+7566T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519076 | ||||||
| chr1:181519077
|
C | T | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.512+7567C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519077 | ||||||
| chr1:181519078
|
G | A | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+7568G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519078 | ||||||
| chr1:181519094
|
G | C | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.512+7584G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519094 | ||||||
| chr1:181519122
|
T | G | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.512+7612T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519122 | ||||||
| chr1:181519134
|
C | T | 95 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0130others(92): Show | 95 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.512+7624C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519134 | ||||||
| chr1:181519339
|
A | G | 2 | a0001c0001t0001g0166a0002c0002t0035g0145 | 2 | HG00597.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.512+7829A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519339 | ||||||
| chr1:181519558
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+8048A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519558 | ||||||
| chr1:181519843
|
G | C | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.512+8333G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519843 | ||||||
| chr1:181519873
|
C | T | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+8363C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519873 | ||||||
| chr1:181519950
|
G | A | 1 | a0001c0001t0001g0166 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.512+8440G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181519950 | ||||||
| chr1:181520031
|
G | T | 118 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(115): Show | 118 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.512+8521G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520031 | ||||||
| chr1:181520080
|
C | T | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.512+8570C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520080 | ||||||
| chr1:181520177
|
C | T | 32 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(29): Show | 32 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.512+8667C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520177 | ||||||
| chr1:181520186
|
G | A | 118 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(115): Show | 118 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.512+8676G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520186 | ||||||
| chr1:181520346
|
CAATA | C | 32 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(29): Show | 32 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.512+8839_512+8842d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181520346 | |||||
| chr1:181520381
|
A | G | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+8871A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520381 | ||||||
| chr1:181520457
|
A | C | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.512+8947A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520457 | ||||||
| chr1:181520559
|
T | C | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.512+9049T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520559 | ||||||
| chr1:181520666
|
G | A | 118 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(115): Show | 118 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.512+9156G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520666 | ||||||
| chr1:181520882
|
C | T | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+9372C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181520882 | ||||||
| chr1:181521244
|
G | T | 10 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(7): Show | 10 | HG01109.hp1 HG02630.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.512+9734G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181521244 | ||||||
| chr1:181521451
|
G | T | 2 | a0001c0008t0008g0030a0001c0008t0008g0039 | 2 | HG01074.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.512+9941G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181521451 | ||||||
| chr1:181521477
|
A | G | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.512+9967A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181521477 | ||||||
| chr1:181521960
|
C | T | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.512+10450C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181521960 | ||||||
| chr1:181522235
|
A | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.512+10725A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181522235 | ||||||
| chr1:181522366
|
G | T | 8 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(5): Show | 8 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.512+10856G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181522366 | ||||||
| chr1:181522602
|
G | A | 1 | a0002c0002t0034g0080 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.512+11092G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181522602 | ||||||
| chr1:181522682
|
G | A | 10 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(7): Show | 10 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.512+11172G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181522682 | ||||||
| chr1:181522893
|
C | T | 2 | a0001c0004t0008g0032a0001c0005t0026g0031 | 2 | HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.512+11383C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181522893 | ||||||
| chr1:181523129
|
CCTT | C | 24 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(21): Show | 24 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+11625_512+1162 others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181523129 | |||||
| chr1:181523613
|
T | G | 1 | a0002c0002t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+12103T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181523613 | ||||||
| chr1:181524116
|
C | G | 11 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(8): Show | 11 | HG01109.hp1 HG02630.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.512+12606C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181524116 | ||||||
| chr1:181524329
|
G | A | 1 | a0004c0007t0001g0171 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.512+12819G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181524329 | ||||||
| chr1:181524600
|
G | A | 10 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(7): Show | 10 | HG01109.hp1 HG02630.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.512+13090G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181524600 | ||||||
| chr1:181524631
|
T | C | 24 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(21): Show | 24 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+13121T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181524631 | ||||||
| chr1:181524905
|
A | G | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+13395A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181524905 | ||||||
| chr1:181525222
|
A | G | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+13712A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525222 | ||||||
| chr1:181525302
|
C | T | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+13792C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525302 | ||||||
| chr1:181525392
|
C | G | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+13882C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525392 | ||||||
| chr1:181525426
|
C | T | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.512+13916C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525426 | ||||||
| chr1:181525559
|
A | G | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.512+14049A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525559 | ||||||
| chr1:181525603
|
A | G | 7 | a0001c0001t0004g0058a0001c0001t0012g0005a0001c0001t0025g0057others(4): Show | 7 | HG02258.hp2 HG02976.hp2 NA18522.hp1 others(4): Show |
intron_variant | MODIFIER | c.512+14093A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525603 | ||||||
| chr1:181525639
|
A | G | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+14129A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525639 | ||||||
| chr1:181525688
|
G | A | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+14178G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525688 | ||||||
| chr1:181525699
|
A | G | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+14189A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525699 | ||||||
| chr1:181525722
|
G | A | 125 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.512+14212G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525722 | ||||||
| chr1:181525848
|
G | A | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+14338G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525848 | ||||||
| chr1:181525888
|
G | A | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+14378G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181525888 | ||||||
| chr1:181526359
|
C | T | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+14849C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181526359 | ||||||
| chr1:181526412
|
AT | A | 87 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0003g0130others(84): Show | 87 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.512+14919delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181526412 | |||||
| chr1:181526412
|
ATT | A | 25 | a0001c0001t0004g0078a0001c0001t0008g0179a0001c0001t0013g0187others(22): Show | 25 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+14918_512+1491 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181526412 | |||||
| chr1:181526665
|
C | T | 24 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(21): Show | 24 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+15155C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181526665 | ||||||
| chr1:181526674
|
G | A | 2 | a0001c0001t0013g0187a0003c0003t0022g0193 | 2 | HG02738.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.512+15164G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181526674 | ||||||
| chr1:181526959
|
T | C | 21 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0019g0034others(18): Show | 21 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.512+15449T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181526959 | ||||||
| chr1:181527078
|
A | G | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+15568A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527078 | ||||||
| chr1:181527079
|
C | A | 1 | a0003c0003t0014g0082 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.512+15569C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527079 | ||||||
| chr1:181527209
|
A | G | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.512+15699A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527209 | ||||||
| chr1:181527240
|
C | T | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.512+15730C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527240 | ||||||
| chr1:181527306
|
G | A | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+15796G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527306 | ||||||
| chr1:181527383
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+15873A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527383 | ||||||
| chr1:181527691
|
T | C | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+16181T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527691 | ||||||
| chr1:181527746
|
T | C | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.512+16236T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527746 | ||||||
| chr1:181527827
|
A | G | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+16317A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181527827 | ||||||
| chr1:181527883
|
CTTTAT | C | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+16381_512+1638 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181527883 | |||||
| chr1:181527935
|
TCTTA | T | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+16429_512+1643 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181527935 | |||||
| chr1:181528139
|
G | A | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+16629G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528139 | ||||||
| chr1:181528147
|
T | TG | 34 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(31): Show | 34 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(31): Show |
intron_variant | MODIFIER | c.512+16645dupG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181528147 | |||||
| chr1:181528147
|
T | TTG | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+16637_512+1663 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528147 | ||||||
| chr1:181528148
|
G | T | 3 | a0001c0001t0005g0086a0001c0020t0031g0074a0003c0003t0001g0076 | 3 | HG00408.hp1 HG00741.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.512+16638G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528148 | ||||||
| chr1:181528149
|
G | C | 1 | a0001c0004t0031g0095 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.512+16639G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528149 | ||||||
| chr1:181528150
|
G | C | 1 | a0002c0002t0003g0043 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.512+16640G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528150 | ||||||
| chr1:181528332
|
C | CA | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+16823dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181528332 | |||||
| chr1:181528519
|
G | C | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(21): Show |
intron_variant | MODIFIER | c.512+17009G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528519 | ||||||
| chr1:181528625
|
C | T | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+17115C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528625 | ||||||
| chr1:181528699
|
T | C | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+17189T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528699 | ||||||
| chr1:181528830
|
T | C | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+17320T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181528830 | ||||||
| chr1:181529250
|
A | AG | 51 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(48): Show | 51 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
intron_variant | MODIFIER | c.512+17742dupG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181529250 | |||||
| chr1:181529285
|
C | T | 41 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(38): Show | 41 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(38): Show |
intron_variant | MODIFIER | c.512+17775C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529285 | ||||||
| chr1:181529429
|
C | T | 1 | a0009c0021t0002g0098 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.512+17919C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529429 | ||||||
| chr1:181529529
|
C | T | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+18019C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529529 | ||||||
| chr1:181529650
|
G | A | 4 | a0001c0001t0012g0060a0001c0004t0036g0062a0001c0005t0018g0061others(1): Show | 4 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+18140G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529650 | ||||||
| chr1:181529831
|
A | G | 7 | a0001c0001t0004g0058a0001c0001t0012g0005a0001c0001t0025g0057others(4): Show | 7 | HG02258.hp2 HG02976.hp2 NA18522.hp1 others(4): Show |
intron_variant | MODIFIER | c.512+18321A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529831 | ||||||
| chr1:181529868
|
C | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.512+18358C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181529868 | ||||||
| chr1:181530102
|
G | A | 43 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(40): Show | 43 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(40): Show |
intron_variant | MODIFIER | c.512+18592G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530102 | ||||||
| chr1:181530216
|
A | G | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.512+18706A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530216 | ||||||
| chr1:181530242
|
A | G | 136 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(133): Show | 136 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.512+18732A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530242 | ||||||
| chr1:181530423
|
T | G | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.512+18913T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530423 | ||||||
| chr1:181530439
|
T | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.512+18929T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530439 | ||||||
| chr1:181530654
|
A | G | 2 | a0001c0005t0071g0110a0001c0009t0078g0040 | 2 | HG02258.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.512+19144A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530654 | ||||||
| chr1:181530771
|
A | G | 1 | a0001c0001t0006g0183 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.512+19261A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530771 | ||||||
| chr1:181530815
|
T | G | 4 | a0001c0001t0048g0054a0001c0008t0008g0030a0001c0008t0008g0039others(1): Show | 4 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+19305T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181530815 | ||||||
| chr1:181531188
|
T | C | 52 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(49): Show | 52 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.512+19678T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181531188 | ||||||
| chr1:181531577
|
T | C | 52 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(49): Show | 52 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.512+20067T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181531577 | ||||||
| chr1:181531623
|
T | A | 43 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0008g0179others(40): Show | 43 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(40): Show |
intron_variant | MODIFIER | c.512+20113T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181531623 | ||||||
| chr1:181531796
|
T | A | 6 | a0001c0001t0048g0054a0001c0008t0008g0030a0001c0008t0008g0039others(3): Show | 6 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.512+20286T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181531796 | ||||||
| chr1:181532312
|
C | G | 23 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(20): Show | 23 | HG00408.hp1 HG00741.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.512+20802C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532312 | ||||||
| chr1:181532334
|
G | A | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00408.hp1 HG00741.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+20824G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532334 | ||||||
| chr1:181532470
|
A | G | 52 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(49): Show | 52 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.512+20960A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532470 | ||||||
| chr1:181532523
|
C | G | 52 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(49): Show | 52 | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.512+21013C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532523 | ||||||
| chr1:181532596
|
T | A | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.512+21086T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532596 | ||||||
| chr1:181532716
|
A | G | 1 | a0001c0005t0032g0029 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.512+21206A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532716 | ||||||
| chr1:181532836
|
T | G | 4 | a0001c0001t0048g0054a0001c0008t0008g0030a0001c0008t0008g0039others(1): Show | 4 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.512+21326T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532836 | ||||||
| chr1:181532971
|
G | C | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.512+21461G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181532971 | ||||||
| chr1:181533024
|
A | C | 1 | a0001c0004t0036g0062 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.512+21514A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533024 | ||||||
| chr1:181533431
|
T | C | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.512+21921T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533431 | ||||||
| chr1:181533495
|
A | G | 1 | a0002c0002t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+21985A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533495 | ||||||
| chr1:181533590
|
A | G | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+22080A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533590 | ||||||
| chr1:181533612
|
C | T | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+22102C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533612 | ||||||
| chr1:181533612
|
CTT | C | 40 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(37): Show | 40 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+22103_512+2210 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533612 | ||||||
| chr1:181533930
|
G | A | 40 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(37): Show | 40 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.512+22420G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181533930 | ||||||
| chr1:181534140
|
T | C | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+22630T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534140 | ||||||
| chr1:181534175
|
T | C | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.512+22665T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534175 | ||||||
| chr1:181534324
|
A | G | 43 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(40): Show | 43 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(40): Show |
intron_variant | MODIFIER | c.512+22814A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534324 | ||||||
| chr1:181534541
|
G | A | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.512+23031G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534541 | ||||||
| chr1:181534637
|
C | A | 1 | a0001c0004t0004g0185 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.512+23127C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534637 | ||||||
| chr1:181534691
|
A | T | 165 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(162): Show | 165 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(162): Show |
intron_variant | MODIFIER | c.512+23181A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534691 | ||||||
| chr1:181534701
|
A | G | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+23191A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534701 | ||||||
| chr1:181534767
|
C | T | 58 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(55): Show | 58 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.512+23257C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534767 | ||||||
| chr1:181534911
|
A | C | 42 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(39): Show | 42 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(39): Show |
intron_variant | MODIFIER | c.512+23401A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181534911 | ||||||
| chr1:181535056
|
T | C | 69 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(66): Show | 69 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(66): Show |
intron_variant | MODIFIER | c.512+23546T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535056 | ||||||
| chr1:181535067
|
G | A | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.512+23557G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535067 | ||||||
| chr1:181535184
|
T | C | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+23674T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535184 | ||||||
| chr1:181535407
|
T | TA | 205 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(202): Show | 205 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(202): Show |
intron_variant | MODIFIER | c.512+23897_512+2389 others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535407 | ||||||
| chr1:181535447
|
T | A | 7 | a0001c0001t0003g0130a0001c0001t0006g0050a0001c0001t0006g0131others(4): Show | 7 | HG02135.hp1 NA18942.hp2 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.512+23937T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535447 | ||||||
| chr1:181535528
|
A | G | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+24018A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535528 | ||||||
| chr1:181535631
|
G | T | 198 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(195): Show | 198 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(195): Show |
intron_variant | MODIFIER | c.512+24121G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535631 | ||||||
| chr1:181535634
|
T | A | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+24124T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535634 | ||||||
| chr1:181535644
|
T | C | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+24134T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535644 | ||||||
| chr1:181535705
|
C | T | 66 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(63): Show | 66 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(63): Show |
intron_variant | MODIFIER | c.512+24195C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535705 | ||||||
| chr1:181535721
|
T | C | 1 | a0001c0006t0004g0102 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.512+24211T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181535721 | ||||||
| chr1:181536067
|
G | A | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+24557G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536067 | ||||||
| chr1:181536077
|
A | C | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+24567A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536077 | ||||||
| chr1:181536195
|
C | A | 1 | a0002c0002t0026g0175 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.512+24685C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536195 | ||||||
| chr1:181536710
|
G | A | 1 | a0001c0009t0018g0041 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.512+25200G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536710 | ||||||
| chr1:181536862
|
T | G | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.512+25352T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536862 | ||||||
| chr1:181536881
|
T | C | 60 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(57): Show | 60 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.512+25371T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536881 | ||||||
| chr1:181536914
|
G | A | 2 | a0001c0001t0004g0078a0002c0002t0007g0069 | 2 | HG00741.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.512+25404G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181536914 | ||||||
| chr1:181537089
|
T | C | 60 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(57): Show | 60 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.512+25579T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537089 | ||||||
| chr1:181537095
|
C | CT | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+25606dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181537095 | |||||
| chr1:181537095
|
CTT | C | 57 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(54): Show | 57 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.512+25605_512+2560 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181537095 | |||||
| chr1:181537095
|
CTTTTTTT others(4): Show |
C | 25 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+25596_512+2560 others(15): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181537095 | |||||
| chr1:181537098
|
T | TTC | 60 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0005g0015others(57): Show | 60 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.512+25589_512+2559 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181537098 | |||||
| chr1:181537099
|
T | TC | 6 | a0001c0001t0012g0060a0001c0001t0033g0088a0001c0004t0036g0062others(3): Show | 6 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.512+25589_512+2559 others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537099 | ||||||
| chr1:181537120
|
A | T | 33 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(30): Show | 33 | HG00609.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.512+25610A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537120 | ||||||
| chr1:181537403
|
G | A | 60 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0042others(57): Show | 60 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.512+25893G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537403 | ||||||
| chr1:181537552
|
G | C | 2 | a0001c0001t0002g0195a0002c0002t0050g0197 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.512+26042G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537552 | ||||||
| chr1:181537712
|
T | C | 2 | a0001c0005t0071g0110a0001c0009t0078g0040 | 2 | HG02258.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.512+26202T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537712 | ||||||
| chr1:181537955
|
C | T | 1 | a0006c0018t0001g0056 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.512+26445C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181537955 | ||||||
| chr1:181538456
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+26946A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181538456 | ||||||
| chr1:181538546
|
C | T | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.512+27036C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181538546 | ||||||
| chr1:181538618
|
G | T | 42 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(39): Show | 42 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.512+27108G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181538618 | ||||||
| chr1:181538675
|
A | T | 197 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(194): Show | 197 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(194): Show |
intron_variant | MODIFIER | c.512+27165A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181538675 | ||||||
| chr1:181538922
|
T | G | 2 | a0001c0005t0071g0110a0001c0009t0078g0040 | 2 | HG02258.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.512+27412T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181538922 | ||||||
| chr1:181539040
|
C | T | 30 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(27): Show | 30 | HG00408.hp1 HG00741.hp1 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.512+27530C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539040 | ||||||
| chr1:181539054
|
C | A | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.512+27544C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539054 | ||||||
| chr1:181539190
|
C | T | 42 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(39): Show | 42 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.512+27680C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539190 | ||||||
| chr1:181539304
|
A | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0024t0067g0004 | 3 | HG02976.hp2 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.512+27794A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539304 | ||||||
| chr1:181539387
|
T | G | 42 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(39): Show | 42 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.512+27877T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539387 | ||||||
| chr1:181539395
|
T | G | 42 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(39): Show | 42 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.512+27885T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539395 | ||||||
| chr1:181539465
|
A | G | 44 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.512+27955A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539465 | ||||||
| chr1:181539486
|
A | G | 44 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.512+27976A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539486 | ||||||
| chr1:181539728
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.512+28218C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539728 | ||||||
| chr1:181539810
|
G | A | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.512+28300G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181539810 | ||||||
| chr1:181540226
|
C | T | 44 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.512+28716C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540226 | ||||||
| chr1:181540242
|
C | T | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.512+28732C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540242 | ||||||
| chr1:181540276
|
C | T | 25 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(22): Show | 25 | HG00609.hp1 HG00741.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.512+28766C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540276 | ||||||
| chr1:181540313
|
A | G | 1 | a0003c0003t0005g0190 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.512+28803A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540313 | ||||||
| chr1:181540389
|
C | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+28879C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540389 | ||||||
| chr1:181540559
|
C | T | 5 | a0001c0001t0009g0049a0001c0001t0017g0045a0001c0001t0017g0046others(2): Show | 5 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.512+29049C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540559 | ||||||
| chr1:181540582
|
T | C | 44 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.512+29072T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540582 | ||||||
| chr1:181540627
|
T | A | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.512+29117T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540627 | ||||||
| chr1:181540652
|
C | G | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.512+29142C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540652 | ||||||
| chr1:181540685
|
G | T | 44 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.512+29175G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540685 | ||||||
| chr1:181540799
|
A | G | 1 | a0001c0006t0011g0158 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.512+29289A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540799 | ||||||
| chr1:181540903
|
A | G | 64 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(61): Show | 64 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
intron_variant | MODIFIER | c.512+29393A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540903 | ||||||
| chr1:181540964
|
G | A | 1 | a0001c0001t0012g0060 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.512+29454G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181540964 | ||||||
| chr1:181541087
|
C | G | 2 | a0001c0001t0002g0195a0002c0002t0050g0197 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.512+29577C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541087 | ||||||
| chr1:181541398
|
T | C | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.512+29888T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541398 | ||||||
| chr1:181541495
|
C | T | 1 | a0002c0002t0003g0202 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.512+29985C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541495 | ||||||
| chr1:181541531
|
A | G | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+30021A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541531 | ||||||
| chr1:181541603
|
T | C | 61 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(58): Show | 61 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.512+30093T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541603 | ||||||
| chr1:181541735
|
A | G | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.512+30225A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541735 | ||||||
| chr1:181541755
|
G | A | 3 | a0001c0001t0063g0026a0001c0005t0032g0029a0001c0026t0042g0025 | 3 | HG02723.hp2 HG03139.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.512+30245G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541755 | ||||||
| chr1:181541760
|
A | T | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.512+30250A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541760 | ||||||
| chr1:181541877
|
G | T | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.512+30367G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541877 | ||||||
| chr1:181541897
|
A | T | 3 | a0001c0001t0012g0100a0001c0004t0008g0122a0002c0002t0001g0022 | 3 | HG02630.hp2 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.512+30387A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541897 | ||||||
| chr1:181541978
|
A | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.512+30468A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181541978 | ||||||
| chr1:181542186
|
G | A | 1 | a0002c0002t0015g0048 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.512+30676G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542186 | ||||||
| chr1:181542212
|
A | G | 5 | a0001c0001t0004g0146a0001c0001t0013g0105a0001c0004t0016g0198others(2): Show | 5 | HG01934.hp2 HG01993.hp2 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.512+30702A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542212 | ||||||
| chr1:181542264
|
AT | A | 41 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(38): Show | 41 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.512+30756delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181542264 | |||||
| chr1:181542508
|
G | T | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.512+30998G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542508 | ||||||
| chr1:181542515
|
C | A | 66 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(63): Show | 66 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.512+31005C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542515 | ||||||
| chr1:181542550
|
C | T | 1 | a0002c0002t0026g0175 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.512+31040C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542550 | ||||||
| chr1:181542638
|
C | A | 2 | a0001c0001t0004g0078a0002c0002t0007g0069 | 2 | HG00741.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.512+31128C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542638 | ||||||
| chr1:181542723
|
A | T | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+31213A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542723 | ||||||
| chr1:181542733
|
G | A | 24 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(21): Show | 24 | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.512+31223G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181542733 | ||||||
| chr1:181543008
|
GT | G | 41 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0011g0038others(38): Show | 41 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.512+31501delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181543008 | |||||
| chr1:181543134
|
T | C | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.512+31624T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543134 | ||||||
| chr1:181543286
|
T | C | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.512+31776T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543286 | ||||||
| chr1:181543317
|
G | T | 23 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(20): Show | 23 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.512+31807G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543317 | ||||||
| chr1:181543641
|
G | A | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.512+32131G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543641 | ||||||
| chr1:181543782
|
G | A | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.512+32272G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543782 | ||||||
| chr1:181543809
|
G | C | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.512+32299G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181543809 | ||||||
| chr1:181544102
|
T | C | 18 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(15): Show | 18 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.512+32592T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181544102 | ||||||
| chr1:181544380
|
T | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.512+32870T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181544380 | ||||||
| chr1:181544400
|
T | TA | 65 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0058others(62): Show | 65 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.512+32901dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181544400 | |||||
| chr1:181544400
|
TA | T | 50 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(47): Show | 50 | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.512+32901delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181544400 | |||||
| chr1:181544422
|
T | C | 2 | a0001c0005t0071g0110a0001c0009t0078g0040 | 2 | HG02258.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.512+32912T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181544422 | ||||||
| chr1:181544731
|
A | G | 42 | a0001c0001t0003g0044a0001c0001t0003g0130a0001c0001t0005g0086others(39): Show | 42 | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.513-33035A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181544731 | ||||||
| chr1:181545412
|
C | T | 66 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(63): Show | 66 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.513-32354C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545412 | ||||||
| chr1:181545522
|
A | C | 2 | a0001c0001t0002g0195a0002c0002t0050g0197 | 2 | HG02451.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-32244A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545522 | ||||||
| chr1:181545621
|
T | C | 64 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(61): Show | 64 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
intron_variant | MODIFIER | c.513-32145T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545621 | ||||||
| chr1:181545731
|
T | G | 193 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(190): Show | 193 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(190): Show |
intron_variant | MODIFIER | c.513-32035T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545731 | ||||||
| chr1:181545790
|
T | A | 69 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0058others(66): Show | 69 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(66): Show |
intron_variant | MODIFIER | c.513-31976T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545790 | ||||||
| chr1:181545865
|
A | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.513-31901A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181545865 | ||||||
| chr1:181546086
|
A | G | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.513-31680A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181546086 | ||||||
| chr1:181546292
|
C | T | 1 | a0003c0003t0005g0180 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.513-31474C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181546292 | ||||||
| chr1:181546965
|
T | C | 31 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0011g0038others(28): Show | 31 | HG00597.hp2 HG00673.hp2 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.513-30801T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181546965 | ||||||
| chr1:181547049
|
C | T | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-30717C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547049 | ||||||
| chr1:181547066
|
C | T | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-30700C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547066 | ||||||
| chr1:181547075
|
A | G | 66 | a0001c0001t0003g0044a0001c0001t0003g0130a0001c0001t0005g0015others(63): Show | 66 | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(63): Show |
intron_variant | MODIFIER | c.513-30691A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547075 | ||||||
| chr1:181547151
|
C | A | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-30615C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547151 | ||||||
| chr1:181547235
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-30531C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547235 | ||||||
| chr1:181547525
|
C | T | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-30241C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547525 | ||||||
| chr1:181547581
|
T | A | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.513-30185T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547581 | ||||||
| chr1:181547685
|
G | A | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.513-30081G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547685 | ||||||
| chr1:181547837
|
C | T | 1 | a0001c0001t0009g0132 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-29929C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181547837 | ||||||
| chr1:181548120
|
T | TTTTATTT others(2): Show |
14 | a0001c0001t0002g0126a0001c0001t0003g0134a0001c0001t0006g0123others(11): Show | 14 | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(11): Show |
intron_variant | MODIFIER | c.513-29643_513-2964 others(13): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181548120 | |||||
| chr1:181548120
|
T | TTTTTTTT others(2): Show |
73 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0003g0130others(70): Show | 73 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.513-29637_513-2962 others(13): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181548120 | |||||
| chr1:181548129
|
C | CTTTTTTT others(3): Show |
82 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0078others(79): Show | 82 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.513-29629_513-2962 others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181548129 | |||||
| chr1:181548129
|
C | CTTTTTTT others(4): Show |
1 | a0003c0003t0005g0170 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-29629_513-2962 others(15): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181548129 | |||||
| chr1:181548130
|
T | TTTCTTTT others(1): Show |
17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-29634_513-2963 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181548130 | |||||
| chr1:181548271
|
C | G | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-29495C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181548271 | ||||||
| chr1:181548386
|
A | T | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-29380A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181548386 | ||||||
| chr1:181548472
|
A | G | 58 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(55): Show | 58 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.513-29294A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181548472 | ||||||
| chr1:181548502
|
A | G | 62 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0134others(59): Show | 62 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(59): Show |
intron_variant | MODIFIER | c.513-29264A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181548502 | ||||||
| chr1:181548989
|
A | G | 123 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(120): Show | 123 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(120): Show |
intron_variant | MODIFIER | c.513-28777A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181548989 | ||||||
| chr1:181549502
|
A | T | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.513-28264A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549502 | ||||||
| chr1:181549505
|
C | A | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-28261C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549505 | ||||||
| chr1:181549614
|
C | T | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.513-28152C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549614 | ||||||
| chr1:181549645
|
C | T | 23 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(20): Show | 23 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.513-28121C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549645 | ||||||
| chr1:181549677
|
T | C | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-28089T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549677 | ||||||
| chr1:181549706
|
G | T | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.513-28060G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549706 | ||||||
| chr1:181549820
|
C | G | 5 | a0001c0001t0016g0133a0001c0004t0002g0101a0001c0004t0002g0160others(2): Show | 5 | HG00642.hp1 HG01169.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-27946C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549820 | ||||||
| chr1:181549830
|
G | A | 188 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(185): Show | 188 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(185): Show |
intron_variant | MODIFIER | c.513-27936G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549830 | ||||||
| chr1:181549833
|
G | A | 11 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-27933G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549833 | ||||||
| chr1:181549961
|
G | A | 1 | a0001c0001t0006g0151 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.513-27805G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549961 | ||||||
| chr1:181549985
|
G | A | 5 | a0001c0001t0070g0037a0001c0008t0008g0164a0001c0008t0051g0165others(2): Show | 5 | HG02615.hp2 HG02809.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-27781G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181549985 | ||||||
| chr1:181550219
|
A | C | 25 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0008g0179others(22): Show | 25 | HG00609.hp1 HG00741.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.513-27547A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550219 | ||||||
| chr1:181550348
|
C | T | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.513-27418C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550348 | ||||||
| chr1:181550385
|
G | A | 60 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(57): Show | 60 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.513-27381G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550385 | ||||||
| chr1:181550880
|
C | T | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.513-26886C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550880 | ||||||
| chr1:181550881
|
T | C | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.513-26885T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550881 | ||||||
| chr1:181550884
|
AT | A | 5 | a0001c0001t0004g0058a0001c0001t0019g0034a0001c0001t0025g0057others(2): Show | 5 | HG02965.hp1 HG02976.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-26878delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181550884 | |||||
| chr1:181550918
|
G | A | 23 | a0001c0001t0006g0042a0001c0001t0007g0188a0001c0001t0016g0133others(20): Show | 23 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.513-26848G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181550918 | ||||||
| chr1:181551243
|
A | T | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.513-26523A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551243 | ||||||
| chr1:181551331
|
A | C | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.513-26435A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551331 | ||||||
| chr1:181551638
|
G | C | 1 | a0003c0003t0001g0012 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.513-26128G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551638 | ||||||
| chr1:181551640
|
A | G | 1 | a0003c0003t0001g0012 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.513-26126A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551640 | ||||||
| chr1:181551804
|
C | T | 11 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(8): Show | 11 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.513-25962C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551804 | ||||||
| chr1:181551820
|
T | C | 12 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0017g0045others(9): Show | 12 | HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.513-25946T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551820 | ||||||
| chr1:181551858
|
G | C | 17 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0024g0112others(14): Show | 17 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.513-25908G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181551858 | ||||||
| chr1:181551887
|
T | TC | 31 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0004g0078others(28): Show | 31 | HG00609.hp1 HG00741.hp2 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.513-25873dupC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181551887 | |||||
| chr1:181552247
|
A | G | 200 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(197): Show | 200 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(197): Show |
intron_variant | MODIFIER | c.513-25519A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552247 | ||||||
| chr1:181552441
|
C | CT | 13 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(10): Show | 13 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.513-25316dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181552441 | |||||
| chr1:181552600
|
G | A | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.513-25166G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552600 | ||||||
| chr1:181552648
|
A | G | 1 | a0001c0001t0002g0195 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-25118A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552648 | ||||||
| chr1:181552711
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-25055A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552711 | ||||||
| chr1:181552832
|
T | C | 1 | a0002c0002t0035g0145 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.513-24934T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552832 | ||||||
| chr1:181552884
|
G | C | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.513-24882G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181552884 | ||||||
| chr1:181553027
|
T | C | 2 | a0001c0001t0052g0081a0002c0002t0034g0080 | 2 | HG01891.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.513-24739T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553027 | ||||||
| chr1:181553044
|
A | G | 1 | a0001c0020t0031g0074 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.513-24722A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553044 | ||||||
| chr1:181553124
|
A | G | 1 | a0001c0001t0019g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.513-24642A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553124 | ||||||
| chr1:181553157
|
C | T | 42 | a0001c0001t0003g0044a0001c0001t0009g0049a0001c0001t0010g0028others(39): Show | 42 | HG00597.hp2 HG00673.hp2 HG01069.hp2 others(39): Show |
intron_variant | MODIFIER | c.513-24609C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553157 | ||||||
| chr1:181553229
|
C | G | 18 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(15): Show | 18 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.513-24537C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553229 | ||||||
| chr1:181553230
|
T | G | 18 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(15): Show | 18 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.513-24536T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553230 | ||||||
| chr1:181553262
|
G | A | 2 | a0001c0001t0074g0109a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.513-24504G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553262 | ||||||
| chr1:181553290
|
T | G | 1 | a0001c0026t0042g0025 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.513-24476T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553290 | ||||||
| chr1:181553291
|
C | T | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.513-24475C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553291 | ||||||
| chr1:181553507
|
C | T | 13 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(10): Show | 13 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.513-24259C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553507 | ||||||
| chr1:181553519
|
G | A | 1 | a0002c0029t0001g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.513-24247G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553519 | ||||||
| chr1:181553542
|
G | T | 1 | a0003c0003t0001g0096 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.513-24224G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553542 | ||||||
| chr1:181553562
|
A | G | 18 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0012g0060others(15): Show | 18 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.513-24204A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553562 | ||||||
| chr1:181553641
|
G | C | 13 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0012g0100others(10): Show | 13 | HG01192.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.513-24125G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553641 | ||||||
| chr1:181553747
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.513-24019C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553747 | ||||||
| chr1:181553867
|
G | A | 2 | a0001c0005t0071g0110a0001c0009t0078g0040 | 2 | HG02258.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.513-23899G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181553867 | ||||||
| chr1:181554296
|
G | A | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.513-23470G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181554296 | ||||||
| chr1:181554332
|
A | G | 3 | a0001c0001t0064g0013a0001c0005t0024g0003a0002c0002t0050g0197 | 3 | HG03471.hp1 NA18906.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.513-23434A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181554332 | ||||||
| chr1:181554379
|
G | C | 64 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0058others(61): Show | 64 | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
intron_variant | MODIFIER | c.513-23387G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181554379 | ||||||
| chr1:181554704
|
G | C | 51 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0005g0089others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(48): Show |
intron_variant | MODIFIER | c.513-23062G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181554704 | ||||||
| chr1:181554856
|
T | C | 1 | a0003c0003t0005g0152 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.513-22910T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181554856 | ||||||
| chr1:181555259
|
C | T | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.513-22507C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555259 | ||||||
| chr1:181555263
|
C | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-22503C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555263 | ||||||
| chr1:181555280
|
G | A | 1 | a0001c0001t0007g0121 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.513-22486G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555280 | ||||||
| chr1:181555425
|
T | A | 140 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(137): Show | 140 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.513-22341T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555425 | ||||||
| chr1:181555573
|
C | T | 1 | a0002c0002t0021g0115 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.513-22193C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555573 | ||||||
| chr1:181555703
|
T | A | 62 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(59): Show | 62 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(59): Show |
intron_variant | MODIFIER | c.513-22063T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555703 | ||||||
| chr1:181555722
|
G | C | 161 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(158): Show | 161 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(158): Show |
intron_variant | MODIFIER | c.513-22044G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555722 | ||||||
| chr1:181555769
|
G | A | 7 | a0001c0001t0011g0068a0001c0001t0024g0112a0001c0001t0073g0114others(4): Show | 7 | HG01109.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.513-21997G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555769 | ||||||
| chr1:181555985
|
G | A | 1 | a0002c0002t0015g0017 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.513-21781G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181555985 | ||||||
| chr1:181556314
|
A | G | 31 | a0001c0001t0002g0195a0001c0001t0008g0179a0001c0001t0010g0028others(28): Show | 31 | HG00609.hp1 HG01109.hp2 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.513-21452A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556314 | ||||||
| chr1:181556459
|
C | T | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.513-21307C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556459 | ||||||
| chr1:181556486
|
G | A | 157 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(154): Show | 157 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(154): Show |
intron_variant | MODIFIER | c.513-21280G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556486 | ||||||
| chr1:181556619
|
G | A | 157 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(154): Show | 157 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(154): Show |
intron_variant | MODIFIER | c.513-21147G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556619 | ||||||
| chr1:181556630
|
G | A | 59 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0146others(56): Show | 59 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(56): Show |
intron_variant | MODIFIER | c.513-21136G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556630 | ||||||
| chr1:181556651
|
T | C | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.513-21115T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556651 | ||||||
| chr1:181556711
|
G | A | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.513-21055G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181556711 | ||||||
| chr1:181557218
|
G | A | 19 | a0001c0001t0004g0078a0001c0001t0006g0151a0001c0001t0007g0188others(16): Show | 19 | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(16): Show |
intron_variant | MODIFIER | c.513-20548G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557218 | ||||||
| chr1:181557233
|
C | T | 26 | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0131others(23): Show | 26 | HG00408.hp1 HG00673.hp1 HG00735.hp1 others(23): Show |
intron_variant | MODIFIER | c.513-20533C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557233 | ||||||
| chr1:181557627
|
C | A | 2 | a0001c0005t0024g0003a0001c0009t0040g0141 | 2 | HG02280.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.513-20139C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557627 | ||||||
| chr1:181557645
|
C | T | 3 | a0001c0001t0003g0044a0002c0002t0013g0162a0003c0003t0001g0076 | 3 | HG00741.hp1 NA18983.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.513-20121C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557645 | ||||||
| chr1:181557727
|
G | A | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.513-20039G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557727 | ||||||
| chr1:181557774
|
G | C | 1 | a0001c0001t0003g0044 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.513-19992G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557774 | ||||||
| chr1:181557864
|
A | G | 203 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(200): Show | 203 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
intron_variant | MODIFIER | c.513-19902A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181557864 | ||||||
| chr1:181558007
|
T | C | 10 | a0001c0001t0011g0038a0001c0001t0012g0060a0001c0001t0065g0173others(7): Show | 10 | HG01192.hp1 HG01891.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.513-19759T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558007 | ||||||
| chr1:181558088
|
A | C | 178 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(175): Show | 178 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.513-19678A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558088 | ||||||
| chr1:181558092
|
T | C | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.513-19674T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558092 | ||||||
| chr1:181558244
|
G | A | 1 | a0001c0001t0059g0107 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.513-19522G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558244 | ||||||
| chr1:181558537
|
C | A | 2 | a0001c0008t0008g0030a0001c0008t0008g0039 | 2 | HG01074.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.513-19229C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558537 | ||||||
| chr1:181558565
|
A | G | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.513-19201A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558565 | ||||||
| chr1:181558738
|
G | A | 1 | a0002c0002t0003g0043 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.513-19028G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558738 | ||||||
| chr1:181558808
|
A | G | 201 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(198): Show | 201 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
intron_variant | MODIFIER | c.513-18958A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181558808 | ||||||
| chr1:181559235
|
C | T | 22 | a0001c0001t0002g0001a0001c0001t0008g0179a0001c0001t0010g0028others(19): Show | 22 | HG00609.hp1 HG01074.hp2 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.513-18531C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559235 | ||||||
| chr1:181559272
|
G | A | 142 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0004g0078others(139): Show | 142 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(139): Show |
intron_variant | MODIFIER | c.513-18494G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559272 | ||||||
| chr1:181559336
|
A | G | 161 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(158): Show | 161 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(158): Show |
intron_variant | MODIFIER | c.513-18430A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559336 | ||||||
| chr1:181559419
|
G | A | 82 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(79): Show | 82 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.513-18347G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559419 | ||||||
| chr1:181559599
|
A | G | 1 | a0001c0001t0006g0123 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.513-18167A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559599 | ||||||
| chr1:181559661
|
G | A | 1 | a0001c0001t0007g0121 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.513-18105G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559661 | ||||||
| chr1:181559666
|
T | G | 195 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(192): Show | 195 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(192): Show |
intron_variant | MODIFIER | c.513-18100T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559666 | ||||||
| chr1:181559923
|
A | G | 1 | a0003c0003t0005g0180 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.513-17843A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181559923 | ||||||
| chr1:181560028
|
AT | A | 5 | a0001c0001t0006g0050a0001c0001t0014g0142a0001c0001t0016g0133others(2): Show | 5 | HG02040.hp1 HG02257.hp1 HG02523.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-17728delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181560028 | |||||
| chr1:181560063
|
A | G | 46 | a0001c0001t0004g0078a0001c0001t0004g0146a0001c0001t0006g0042others(43): Show | 46 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.513-17703A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181560063 | ||||||
| chr1:181560210
|
C | T | 48 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0006g0131others(45): Show | 48 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.513-17556C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181560210 | ||||||
| chr1:181560248
|
G | T | 70 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0005g0015others(67): Show | 70 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(67): Show |
intron_variant | MODIFIER | c.513-17518G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181560248 | ||||||
| chr1:181560281
|
G | GA | 53 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0075others(50): Show | 53 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.513-17477dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181560281 | |||||
| chr1:181560389
|
C | CT | 4 | a0001c0005t0024g0003a0001c0005t0026g0031a0001c0005t0071g0110others(1): Show | 4 | HG02257.hp2 HG02922.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-17369dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181560389 | |||||
| chr1:181560616
|
T | A | 127 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(124): Show | 127 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.513-17150T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181560616 | ||||||
| chr1:181561106
|
T | A | 11 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0059g0107others(8): Show | 11 | HG00642.hp2 HG01975.hp2 HG02293.hp2 others(8): Show |
intron_variant | MODIFIER | c.513-16660T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561106 | ||||||
| chr1:181561149
|
T | C | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.513-16617T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561149 | ||||||
| chr1:181561537
|
A | T | 127 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(124): Show | 127 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.513-16229A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561537 | ||||||
| chr1:181561575
|
A | G | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.513-16191A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561575 | ||||||
| chr1:181561679
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-16087C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561679 | ||||||
| chr1:181561692
|
A | T | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-16074A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561692 | ||||||
| chr1:181561777
|
T | C | 4 | a0001c0005t0024g0003a0001c0005t0026g0031a0001c0005t0071g0110others(1): Show | 4 | HG02257.hp2 HG02922.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-15989T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561777 | ||||||
| chr1:181561840
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.513-15926G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181561840 | ||||||
| chr1:181562106
|
G | C | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-15660G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562106 | ||||||
| chr1:181562152
|
A | G | 65 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0005g0015others(62): Show | 65 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.513-15614A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562152 | ||||||
| chr1:181562414
|
C | A | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-15352C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562414 | ||||||
| chr1:181562526
|
C | T | 1 | a0003c0003t0003g0103 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.513-15240C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562526 | ||||||
| chr1:181562528
|
A | G | 3 | a0001c0006t0011g0158a0001c0031t0004g0118a0001c0032t0062g0073 | 3 | HG01109.hp2 HG01169.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.513-15238A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562528 | ||||||
| chr1:181562561
|
A | G | 18 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0011g0092others(15): Show | 18 | HG01069.hp2 HG01074.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-15205A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562561 | ||||||
| chr1:181562780
|
C | G | 18 | a0001c0001t0004g0058a0001c0001t0010g0028a0001c0001t0011g0092others(15): Show | 18 | HG01069.hp2 HG01074.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.513-14986C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562780 | ||||||
| chr1:181562837
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-14929G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562837 | ||||||
| chr1:181562968
|
C | T | 4 | a0001c0001t0010g0028a0001c0001t0019g0034a0001c0012t0029g0163others(1): Show | 4 | HG02615.hp2 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-14798C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181562968 | ||||||
| chr1:181563094
|
G | A | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.513-14672G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563094 | ||||||
| chr1:181563196
|
G | A | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-14570G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563196 | ||||||
| chr1:181563295
|
G | A | 2 | a0001c0005t0024g0003a0001c0009t0018g0041 | 2 | HG02257.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.513-14471G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563295 | ||||||
| chr1:181563439
|
C | G | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.513-14327C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563439 | ||||||
| chr1:181563474
|
T | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-14292T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563474 | ||||||
| chr1:181563673
|
A | C | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.513-14093A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563673 | ||||||
| chr1:181563932
|
T | C | 3 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203 | 3 | HG03669.hp2 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.513-13834T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563932 | ||||||
| chr1:181563990
|
G | T | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.513-13776G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181563990 | ||||||
| chr1:181564004
|
A | T | 2 | a0001c0001t0048g0054a0003c0014t0069g0196 | 2 | HG02895.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.513-13762A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564004 | ||||||
| chr1:181564005
|
T | C | 4 | a0001c0005t0024g0003a0001c0005t0026g0031a0001c0005t0071g0110others(1): Show | 4 | HG02257.hp2 HG02922.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-13761T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564005 | ||||||
| chr1:181564139
|
C | G | 1 | a0001c0001t0002g0195 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.513-13627C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564139 | ||||||
| chr1:181564167
|
C | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.513-13599C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564167 | ||||||
| chr1:181564436
|
G | A | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.513-13330G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564436 | ||||||
| chr1:181564454
|
C | T | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.513-13312C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564454 | ||||||
| chr1:181564570
|
C | G | 1 | a0002c0002t0049g0169 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.513-13196C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564570 | ||||||
| chr1:181564671
|
C | T | 2 | a0001c0005t0024g0003a0001c0009t0018g0041 | 2 | HG02257.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.513-13095C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564671 | ||||||
| chr1:181564715
|
A | T | 1 | a0002c0002t0028g0097 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.513-13051A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564715 | ||||||
| chr1:181564887
|
CT | C | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-12866delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181564887 | |||||
| chr1:181564935
|
A | G | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-12831A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564935 | ||||||
| chr1:181564969
|
C | T | 127 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(124): Show | 127 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.513-12797C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181564969 | ||||||
| chr1:181565069
|
C | T | 1 | a0003c0003t0023g0182 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.513-12697C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565069 | ||||||
| chr1:181565251
|
G | C | 2 | a0001c0001t0004g0058a0001c0001t0025g0057 | 2 | NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.513-12515G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565251 | ||||||
| chr1:181565299
|
G | A | 63 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0005g0015others(60): Show | 63 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.513-12467G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565299 | ||||||
| chr1:181565335
|
G | A | 49 | a0001c0001t0002g0195a0001c0001t0006g0131a0001c0001t0008g0179others(46): Show | 49 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
intron_variant | MODIFIER | c.513-12431G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565335 | ||||||
| chr1:181565567
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.513-12199C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565567 | ||||||
| chr1:181565690
|
A | G | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.513-12076A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565690 | ||||||
| chr1:181565690
|
A | T | 1 | a0002c0002t0007g0094 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.513-12076A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565690 | ||||||
| chr1:181565882
|
T | TG | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-11878dupG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181565882 | |||||
| chr1:181565896
|
GGAGA | G | 63 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0005g0015others(60): Show | 63 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.513-11867_513-1186 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181565896 | |||||
| chr1:181565919
|
G | A | 3 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0022g0193 | 3 | HG00642.hp2 HG02293.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.513-11847G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181565919 | ||||||
| chr1:181566268
|
C | T | 2 | a0002c0030t0079g0006a0004c0007t0001g0171 | 2 | HG01071.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.513-11498C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181566268 | ||||||
| chr1:181566549
|
T | C | 3 | a0001c0006t0025g0111a0001c0006t0075g0064a0002c0029t0001g0153 | 3 | HG02698.hp1 HG02886.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.513-11217T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181566549 | ||||||
| chr1:181566579
|
G | A | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.513-11187G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181566579 | ||||||
| chr1:181566601
|
T | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.513-11165T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181566601 | ||||||
| chr1:181566662
|
T | C | 46 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(43): Show | 46 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.513-11104T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181566662 | ||||||
| chr1:181567020
|
T | G | 5 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0019g0034others(2): Show | 5 | HG01192.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-10746T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567020 | ||||||
| chr1:181567049
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.513-10717C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567049 | ||||||
| chr1:181567428
|
C | G | 20 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0008g0179others(17): Show | 20 | HG00609.hp1 HG00735.hp1 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.513-10338C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567428 | ||||||
| chr1:181567440
|
C | T | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-10326C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567440 | ||||||
| chr1:181567607
|
A | G | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.513-10159A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567607 | ||||||
| chr1:181567799
|
G | A | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.513-9967G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181567799 | ||||||
| chr1:181567942
|
TATATATA others(7): Show |
T | 1 | a0002c0002t0020g0129 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.513-9808_513-9795d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181567942 | |||||
| chr1:181568196
|
C | A | 14 | a0001c0001t0002g0126a0001c0001t0024g0112a0001c0005t0032g0029others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.513-9570C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568196 | ||||||
| chr1:181568276
|
A | G | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.513-9490A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568276 | ||||||
| chr1:181568411
|
C | T | 1 | a0001c0001t0007g0188 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.513-9355C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568411 | ||||||
| chr1:181568576
|
T | C | 172 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(169): Show | 172 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(169): Show |
intron_variant | MODIFIER | c.513-9190T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568576 | ||||||
| chr1:181568584
|
G | GTTCA | 51 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0006g0131others(48): Show | 51 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(48): Show |
intron_variant | MODIFIER | c.513-9163_513-9160d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181568584 | |||||
| chr1:181568695
|
G | A | 87 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(84): Show | 87 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.513-9071G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568695 | ||||||
| chr1:181568723
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-9043A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568723 | ||||||
| chr1:181568884
|
G | A | 3 | a0001c0001t0011g0068a0001c0001t0073g0114a0007c0019t0041g0116 | 3 | HG02630.hp1 HG02717.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.513-8882G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568884 | ||||||
| chr1:181568911
|
C | T | 11 | a0001c0001t0006g0075a0001c0001t0009g0049a0001c0001t0017g0045others(8): Show | 11 | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(8): Show |
intron_variant | MODIFIER | c.513-8855C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568911 | ||||||
| chr1:181568912
|
G | A | 1 | a0001c0001t0033g0088 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.513-8854G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181568912 | ||||||
| chr1:181569041
|
G | A | 5 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0019g0034others(2): Show | 5 | HG01192.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-8725G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569041 | ||||||
| chr1:181569083
|
A | G | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.513-8683A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569083 | ||||||
| chr1:181569136
|
G | A | 88 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(85): Show | 88 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(85): Show |
intron_variant | MODIFIER | c.513-8630G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569136 | ||||||
| chr1:181569147
|
T | C | 2 | a0001c0001t0011g0038a0001c0001t0064g0013 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.513-8619T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569147 | ||||||
| chr1:181569172
|
T | C | 1 | a0001c0001t0076g0087 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.513-8594T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569172 | ||||||
| chr1:181569424
|
TTCC | T | 4 | a0001c0001t0011g0038a0001c0001t0048g0054a0001c0001t0064g0013others(1): Show | 4 | HG02895.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-8340_513-8338d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181569424 | |||||
| chr1:181569426
|
C | T | 2 | a0001c0001t0052g0081a0001c0001t0066g0070 | 2 | HG01891.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.513-8340C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569426 | ||||||
| chr1:181569539
|
T | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.513-8227T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181569539 | ||||||
| chr1:181570073
|
C | A | 2 | a0002c0002t0014g0125a0002c0002t0028g0021 | 2 | HG02015.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.513-7693C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570073 | ||||||
| chr1:181570127
|
A | G | 51 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.513-7639A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570127 | ||||||
| chr1:181570164
|
C | CT | 26 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0024g0112others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.513-7589dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181570164 | |||||
| chr1:181570164
|
CT | C | 6 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0019g0034others(3): Show | 6 | HG01069.hp2 HG01192.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-7589delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181570164 | |||||
| chr1:181570216
|
T | A | 1 | a0001c0004t0045g0047 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.513-7550T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570216 | ||||||
| chr1:181570252
|
G | C | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.513-7514G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570252 | ||||||
| chr1:181570549
|
C | T | 1 | a0001c0001t0004g0078 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-7217C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570549 | ||||||
| chr1:181570590
|
C | T | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.513-7176C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570590 | ||||||
| chr1:181570611
|
G | A | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.513-7155G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570611 | ||||||
| chr1:181570687
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.513-7079G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570687 | ||||||
| chr1:181570690
|
A | G | 3 | a0001c0004t0031g0095a0001c0011t0004g0091a0002c0002t0007g0090 | 3 | HG01192.hp2 HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.513-7076A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570690 | ||||||
| chr1:181570982
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-6784G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181570982 | ||||||
| chr1:181571077
|
T | G | 1 | a0002c0029t0001g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.513-6689T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181571077 | ||||||
| chr1:181571119
|
A | AT | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.513-6638dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181571119 | |||||
| chr1:181571148
|
T | A | 2 | a0002c0002t0014g0125a0002c0002t0028g0021 | 2 | HG02015.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.513-6618T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181571148 | ||||||
| chr1:181571200
|
G | T | 66 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(63): Show | 66 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.513-6566G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181571200 | ||||||
| chr1:181571407
|
G | A | 203 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(200): Show | 203 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
intron_variant | MODIFIER | c.513-6359G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181571407 | ||||||
| chr1:181571988
|
C | T | 1 | a0002c0002t0044g0053 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.513-5778C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181571988 | ||||||
| chr1:181572023
|
C | T | 89 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(86): Show | 89 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.513-5743C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572023 | ||||||
| chr1:181572172
|
C | G | 1 | a0001c0004t0002g0101 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.513-5594C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572172 | ||||||
| chr1:181572217
|
A | G | 88 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(85): Show | 88 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.513-5549A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572217 | ||||||
| chr1:181572315
|
A | G | 1 | a0002c0002t0002g0140 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.513-5451A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572315 | ||||||
| chr1:181572331
|
A | G | 89 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(86): Show | 89 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.513-5435A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572331 | ||||||
| chr1:181572379
|
C | T | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.513-5387C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572379 | ||||||
| chr1:181572457
|
T | C | 2 | a0001c0001t0014g0142a0002c0002t0015g0017 | 2 | NA18942.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.513-5309T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572457 | ||||||
| chr1:181572554
|
G | A | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.513-5212G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572554 | ||||||
| chr1:181572755
|
A | G | 6 | a0001c0001t0011g0092a0001c0001t0070g0037a0001c0008t0008g0030others(3): Show | 6 | HG01069.hp2 HG01074.hp1 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-5011A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572755 | ||||||
| chr1:181572931
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.513-4835G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572931 | ||||||
| chr1:181572957
|
A | G | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.513-4809A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572957 | ||||||
| chr1:181572999
|
C | G | 86 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(83): Show | 86 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(83): Show |
intron_variant | MODIFIER | c.513-4767C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181572999 | ||||||
| chr1:181573023
|
C | T | 46 | a0001c0001t0002g0195a0001c0001t0008g0179a0001c0001t0011g0068others(43): Show | 46 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.513-4743C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573023 | ||||||
| chr1:181573024
|
G | A | 1 | a0002c0002t0053g0104 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.513-4742G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573024 | ||||||
| chr1:181573070
|
C | T | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-4696C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573070 | ||||||
| chr1:181573117
|
C | G | 2 | a0001c0009t0040g0141a0005c0027t0027g0174 | 2 | HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.513-4649C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573117 | ||||||
| chr1:181573131
|
G | T | 1 | a0002c0002t0037g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.513-4635G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573131 | ||||||
| chr1:181573144
|
A | G | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0012t0038g0002others(1): Show | 4 | HG01884.hp1 HG03225.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-4622A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573144 | ||||||
| chr1:181573220
|
C | T | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.513-4546C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573220 | ||||||
| chr1:181573240
|
G | A | 5 | a0001c0001t0011g0092a0001c0001t0070g0037a0001c0008t0008g0030others(2): Show | 5 | HG01069.hp2 HG01074.hp1 HG01358.hp2 others(2): Show |
intron_variant | MODIFIER | c.513-4526G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573240 | ||||||
| chr1:181573363
|
A | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.513-4403A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573363 | ||||||
| chr1:181573497
|
C | T | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.513-4269C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573497 | ||||||
| chr1:181573541
|
C | T | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.513-4225C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573541 | ||||||
| chr1:181573548
|
G | A | 1 | a0003c0003t0023g0182 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.513-4218G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573548 | ||||||
| chr1:181573645
|
T | C | 2 | a0001c0001t0064g0013a0003c0014t0069g0196 | 2 | HG02895.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.513-4121T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573645 | ||||||
| chr1:181573928
|
A | G | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.513-3838A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181573928 | ||||||
| chr1:181574068
|
C | T | 1 | a0002c0002t0037g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.513-3698C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574068 | ||||||
| chr1:181574699
|
A | G | 158 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(155): Show | 158 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(155): Show |
intron_variant | MODIFIER | c.513-3067A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574699 | ||||||
| chr1:181574746
|
G | A | 68 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(65): Show | 68 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.513-3020G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574746 | ||||||
| chr1:181574762
|
C | G | 2 | a0003c0003t0072g0066a0006c0018t0001g0056 | 2 | HG02818.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.513-3004C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574762 | ||||||
| chr1:181574792
|
C | T | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0012t0038g0002others(1): Show | 4 | HG01884.hp1 HG03225.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-2974C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574792 | ||||||
| chr1:181574895
|
T | C | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-2871T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574895 | ||||||
| chr1:181574917
|
C | T | 1 | a0001c0001t0013g0187 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.513-2849C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574917 | ||||||
| chr1:181574920
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.513-2846G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181574920 | ||||||
| chr1:181575024
|
C | CAA | 80 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(77): Show | 80 | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(77): Show |
intron_variant | MODIFIER | c.513-2730_513-2729d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181575024 | |||||
| chr1:181575024
|
C | CAAA | 6 | a0001c0005t0018g0061a0001c0005t0030g0150a0001c0005t0030g0178others(3): Show | 6 | HG00408.hp2 HG00639.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.513-2731_513-2729d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181575024 | |||||
| chr1:181575024
|
CA | C | 69 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(66): Show | 69 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.513-2729delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | 181575024 | |||||
| chr1:181575075
|
C | T | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.513-2691C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575075 | ||||||
| chr1:181575190
|
A | G | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.513-2576A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575190 | ||||||
| chr1:181575535
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.513-2231C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575535 | ||||||
| chr1:181575580
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.513-2186C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575580 | ||||||
| chr1:181575585
|
A | G | 41 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(38): Show | 41 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.513-2181A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575585 | ||||||
| chr1:181575617
|
C | G | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.513-2149C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575617 | ||||||
| chr1:181575635
|
T | A | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.513-2131T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575635 | ||||||
| chr1:181575901
|
G | T | 109 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(106): Show | 109 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.513-1865G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575901 | ||||||
| chr1:181575988
|
A | G | 68 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(65): Show | 68 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.513-1778A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181575988 | ||||||
| chr1:181576080
|
A | G | 1 | a0002c0002t0020g0129 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.513-1686A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576080 | ||||||
| chr1:181576263
|
A | G | 109 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(106): Show | 109 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.513-1503A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576263 | ||||||
| chr1:181576364
|
G | T | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.513-1402G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576364 | ||||||
| chr1:181576458
|
A | G | 109 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(106): Show | 109 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.513-1308A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576458 | ||||||
| chr1:181576793
|
A | G | 2 | a0001c0008t0008g0030a0001c0008t0008g0039 | 2 | HG01074.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.513-973A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576793 | ||||||
| chr1:181576853
|
A | G | 1 | a0001c0004t0031g0095 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.513-913A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576853 | ||||||
| chr1:181576885
|
A | G | 1 | a0001c0001t0043g0077 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.513-881A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576885 | ||||||
| chr1:181576887
|
C | G | 1 | a0001c0001t0009g0085 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.513-879C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576887 | ||||||
| chr1:181576911
|
G | C | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-855G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181576911 | ||||||
| chr1:181577125
|
G | A | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-641G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577125 | ||||||
| chr1:181577201
|
T | C | 70 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(67): Show | 70 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.513-565T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577201 | ||||||
| chr1:181577370
|
A | C | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.513-396A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577370 | ||||||
| chr1:181577382
|
G | C | 39 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(36): Show | 39 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.513-384G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577382 | ||||||
| chr1:181577454
|
G | A | 1 | a0001c0008t0008g0164 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.513-312G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577454 | ||||||
| chr1:181577455
|
A | G | 1 | a0001c0008t0008g0164 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.513-311A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577455 | ||||||
| chr1:181577530
|
A | C | 13 | a0001c0001t0002g0126a0001c0001t0024g0112a0001c0005t0032g0029others(10): Show | 13 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.513-236A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577530 | ||||||
| chr1:181577531
|
C | A | 13 | a0001c0001t0002g0126a0001c0001t0024g0112a0001c0005t0032g0029others(10): Show | 13 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.513-235C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577531 | ||||||
| chr1:181577737
|
C | A | 2 | a0001c0005t0024g0003a0001c0009t0018g0041 | 2 | HG02257.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.513-29C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | chr1 | 181577737 | ||||||
| chr1:181578092
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.616+223G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 4/47 | chr1 | 181578092 | ||||||
| chr1:181578096
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.616+227G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 4/47 | chr1 | 181578096 | ||||||
| chr1:181578162
|
A | G | 42 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(39): Show | 42 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.616+293A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 4/47 | chr1 | 181578162 | ||||||
| chr1:181578652
|
G | A | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.617-420G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 4/47 | chr1 | 181578652 | ||||||
| chr1:181579273
|
A | G | 1 | a0001c0001t0006g0183 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.769+49A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579273 | ||||||
| chr1:181579366
|
C | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.769+142C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579366 | ||||||
| chr1:181579527
|
A | G | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.769+303A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579527 | ||||||
| chr1:181579633
|
C | G | 1 | a0001c0001t0005g0086 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.769+409C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579633 | ||||||
| chr1:181579652
|
G | A | 77 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(74): Show | 77 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.769+428G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579652 | ||||||
| chr1:181579700
|
C | T | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.769+476C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579700 | ||||||
| chr1:181579764
|
A | G | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.769+540A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579764 | ||||||
| chr1:181579833
|
T | A | 1 | a0003c0003t0023g0182 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.769+609T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579833 | ||||||
| chr1:181579879
|
C | T | 2 | a0001c0001t0014g0142a0002c0002t0015g0017 | 2 | NA18942.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.769+655C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181579879 | ||||||
| chr1:181579889
|
AAGAACTG others(4): Show |
A | 1 | a0011c0017t0001g0020 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.769+668_769+678del others(11): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr1 | 181579889 | |||||
| chr1:181580088
|
A | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.770-507A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580088 | ||||||
| chr1:181580149
|
C | T | 2 | a0001c0001t0066g0070a0008c0028t0068g0055 | 2 | HG02965.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.770-446C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580149 | ||||||
| chr1:181580287
|
C | T | 2 | a0001c0005t0024g0003a0001c0009t0018g0041 | 2 | HG02257.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.770-308C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580287 | ||||||
| chr1:181580411
|
T | G | 81 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(78): Show | 81 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.770-184T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580411 | ||||||
| chr1:181580494
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.770-101C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580494 | ||||||
| chr1:181580495
|
G | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.770-100G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580495 | ||||||
| chr1:181580524
|
T | G | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.770-71T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580524 | ||||||
| chr1:181580546
|
A | G | 1 | a0002c0002t0037g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.770-49A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 5/47 | chr1 | 181580546 | ||||||
| chr1:181581083
|
C | T | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.951+307C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581083 | ||||||
| chr1:181581120
|
G | T | 1 | a0002c0002t0007g0094 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.951+344G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581120 | ||||||
| chr1:181581329
|
A | G | 159 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(156): Show | 159 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(156): Show |
intron_variant | MODIFIER | c.951+553A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581329 | ||||||
| chr1:181581553
|
C | T | 12 | a0001c0001t0002g0126a0001c0001t0024g0112a0001c0005t0032g0029others(9): Show | 12 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.951+777C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581553 | ||||||
| chr1:181581623
|
C | A | 1 | a0001c0001t0013g0105 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.951+847C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581623 | ||||||
| chr1:181581647
|
T | G | 68 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(65): Show | 68 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.951+871T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581647 | ||||||
| chr1:181581831
|
C | T | 1 | a0002c0002t0035g0145 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.951+1055C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581831 | ||||||
| chr1:181581848
|
T | G | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.951+1072T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181581848 | ||||||
| chr1:181582049
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+1273G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582049 | ||||||
| chr1:181582299
|
G | A | 70 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(67): Show | 70 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.951+1523G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582299 | ||||||
| chr1:181582306
|
G | T | 1 | a0001c0001t0007g0188 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.951+1530G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582306 | ||||||
| chr1:181582378
|
C | T | 4 | a0001c0008t0008g0164a0001c0008t0051g0165a0001c0024t0067g0004others(1): Show | 4 | HG02976.hp2 NA18906.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.951+1602C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582378 | ||||||
| chr1:181582398
|
A | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+1622A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582398 | ||||||
| chr1:181582479
|
T | A | 51 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.951+1703T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582479 | ||||||
| chr1:181582481
|
T | C | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+1705T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582481 | ||||||
| chr1:181582822
|
G | A | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.951+2046G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181582822 | ||||||
| chr1:181583103
|
T | TAC | 51 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0050others(48): Show | 51 | HG00323.hp2 HG00597.hp2 HG00609.hp1 others(48): Show |
intron_variant | MODIFIER | c.951+2368_951+2369d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
T | TACAC | 22 | a0001c0001t0006g0151a0001c0001t0011g0068a0001c0001t0033g0088others(19): Show | 22 | HG00323.hp1 HG00438.hp1 HG01069.hp1 others(19): Show |
intron_variant | MODIFIER | c.951+2366_951+2369d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
T | TACACAC | 9 | a0001c0001t0008g0179a0001c0001t0019g0052a0001c0004t0004g0072others(6): Show | 9 | HG01099.hp2 HG01123.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.951+2364_951+2369d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TAC | T | 10 | a0001c0001t0002g0195a0001c0001t0009g0049a0001c0001t0014g0142others(7): Show | 10 | HG00673.hp2 HG01099.hp1 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+2368_951+2369d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACAC | T | 3 | a0001c0006t0025g0111a0002c0002t0015g0017a0003c0003t0010g0127 | 3 | HG02809.hp2 NA18522.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.951+2366_951+2369d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACACAC | T | 13 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0134others(10): Show | 13 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(10): Show |
intron_variant | MODIFIER | c.951+2364_951+2369d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACACACA others(1): Show |
T | 4 | a0002c0002t0003g0167a0002c0002t0014g0125a0002c0002t0020g0129others(1): Show | 4 | HG01069.hp2 HG02040.hp1 HG02132.hp2 others(1): Show |
intron_variant | MODIFIER | c.951+2362_951+2369d others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACACACA others(3): Show |
T | 47 | a0001c0001t0002g0001a0001c0001t0004g0058a0001c0001t0004g0146others(44): Show | 47 | HG00639.hp2 HG00735.hp2 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.951+2360_951+2369d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACACACA others(5): Show |
T | 16 | a0001c0001t0002g0126a0001c0001t0024g0112a0001c0005t0032g0029others(13): Show | 16 | HG00741.hp2 HG01071.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.951+2358_951+2369d others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583103
|
TACACACA others(7): Show |
T | 2 | a0001c0001t0070g0037a0001c0012t0038g0002 | 2 | HG03225.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.951+2356_951+2369d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181583103 | |||||
| chr1:181583198
|
T | G | 42 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(39): Show | 42 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.951+2422T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583198 | ||||||
| chr1:181583424
|
T | C | 51 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.951+2648T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583424 | ||||||
| chr1:181583557
|
T | A | 3 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0022g0193 | 3 | HG00642.hp2 HG02293.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.951+2781T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583557 | ||||||
| chr1:181583796
|
A | G | 1 | a0002c0002t0020g0129 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.951+3020A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583796 | ||||||
| chr1:181583933
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.951+3157C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583933 | ||||||
| chr1:181583934
|
G | A | 38 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(35): Show | 38 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.951+3158G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181583934 | ||||||
| chr1:181584003
|
A | C | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.951+3227A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584003 | ||||||
| chr1:181584017
|
C | A | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.951+3241C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584017 | ||||||
| chr1:181584025
|
C | T | 2 | a0001c0001t0011g0068a0007c0019t0041g0116 | 2 | HG02717.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.951+3249C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584025 | ||||||
| chr1:181584263
|
T | G | 43 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0009g0135others(40): Show | 43 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.951+3487T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584263 | ||||||
| chr1:181584289
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.951+3513G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584289 | ||||||
| chr1:181584438
|
G | T | 47 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0042others(44): Show | 47 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.951+3662G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584438 | ||||||
| chr1:181584661
|
T | C | 14 | a0001c0001t0006g0131a0002c0002t0002g0138a0002c0002t0002g0139others(11): Show | 14 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.951+3885T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584661 | ||||||
| chr1:181584774
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.951+3998C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584774 | ||||||
| chr1:181584819
|
G | A | 2 | a0001c0001t0002g0195a0002c0002t0026g0175 | 2 | HG02258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.951+4043G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584819 | ||||||
| chr1:181584848
|
T | A | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.951+4072T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181584848 | ||||||
| chr1:181585019
|
C | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.951+4243C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585019 | ||||||
| chr1:181585020
|
C | A | 51 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.951+4244C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585020 | ||||||
| chr1:181585020
|
CT | C | 20 | a0001c0001t0011g0068a0001c0001t0048g0054a0001c0001t0066g0070others(17): Show | 20 | HG00323.hp2 HG00639.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.951+4245delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585020 | ||||||
| chr1:181585021
|
T | C | 27 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(24): Show | 27 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(24): Show |
intron_variant | MODIFIER | c.951+4245T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585021 | ||||||
| chr1:181585117
|
A | G | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.951+4341A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585117 | ||||||
| chr1:181585152
|
G | C | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+4376G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585152 | ||||||
| chr1:181585324
|
T | C | 90 | a0001c0001t0002g0126a0001c0001t0004g0078a0001c0001t0005g0015others(87): Show | 90 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(87): Show |
intron_variant | MODIFIER | c.951+4548T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585324 | ||||||
| chr1:181585427
|
A | G | 1 | a0004c0007t0001g0171 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.951+4651A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585427 | ||||||
| chr1:181585474
|
A | T | 1 | a0002c0002t0020g0129 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.951+4698A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181585474 | ||||||
| chr1:181586045
|
T | TA | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+5277dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181586045 | |||||
| chr1:181586175
|
G | A | 3 | a0001c0001t0012g0100a0001c0004t0008g0032a0001c0004t0008g0122 | 3 | HG03098.hp2 HG03471.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.951+5399G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181586175 | ||||||
| chr1:181586188
|
T | C | 118 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(115): Show | 118 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.951+5412T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181586188 | ||||||
| chr1:181586615
|
A | G | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.951+5839A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181586615 | ||||||
| chr1:181587082
|
A | T | 1 | a0001c0005t0032g0099 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.951+6306A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587082 | ||||||
| chr1:181587142
|
T | C | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.951+6366T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587142 | ||||||
| chr1:181587190
|
A | C | 1 | a0003c0003t0001g0076 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.951+6414A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587190 | ||||||
| chr1:181587441
|
G | C | 6 | a0001c0001t0011g0092a0001c0008t0008g0030a0001c0008t0008g0039others(3): Show | 6 | HG01069.hp2 HG01074.hp1 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.951+6665G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587441 | ||||||
| chr1:181587586
|
A | G | 157 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(154): Show | 157 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(154): Show |
intron_variant | MODIFIER | c.951+6810A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587586 | ||||||
| chr1:181587792
|
A | G | 55 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.951+7016A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587792 | ||||||
| chr1:181587886
|
A | G | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.951+7110A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587886 | ||||||
| chr1:181587889
|
A | G | 1 | a0002c0002t0021g0010 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.951+7113A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181587889 | ||||||
| chr1:181588297
|
A | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.951+7521A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588297 | ||||||
| chr1:181588629
|
A | G | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+7853A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588629 | ||||||
| chr1:181588636
|
G | A | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.951+7860G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588636 | ||||||
| chr1:181588681
|
G | A | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.951+7905G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588681 | ||||||
| chr1:181588757
|
C | G | 2 | a0001c0005t0024g0003a0001c0009t0018g0041 | 2 | HG02257.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.951+7981C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588757 | ||||||
| chr1:181588777
|
T | C | 166 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(163): Show | 166 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.951+8001T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588777 | ||||||
| chr1:181588843
|
T | G | 1 | a0003c0003t0004g0124 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.951+8067T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588843 | ||||||
| chr1:181588944
|
G | A | 3 | a0001c0004t0031g0095a0001c0011t0004g0091a0002c0002t0007g0090 | 3 | HG01192.hp2 HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.951+8168G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588944 | ||||||
| chr1:181588967
|
A | G | 1 | a0001c0008t0051g0165 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.951+8191A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181588967 | ||||||
| chr1:181589103
|
G | A | 18 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0134others(15): Show | 18 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(15): Show |
intron_variant | MODIFIER | c.951+8327G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181589103 | ||||||
| chr1:181589227
|
A | G | 2 | a0001c0001t0011g0038a0003c0003t0010g0127 | 2 | HG02809.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.951+8451A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181589227 | ||||||
| chr1:181589540
|
G | C | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.951+8764G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181589540 | ||||||
| chr1:181589972
|
G | A | 11 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0059g0107others(8): Show | 11 | HG01891.hp2 HG02602.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+9196G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181589972 | ||||||
| chr1:181589997
|
C | A | 4 | a0001c0001t0003g0134a0001c0001t0005g0172a0001c0001t0006g0183others(1): Show | 4 | HG00438.hp2 HG02132.hp1 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.951+9221C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181589997 | ||||||
| chr1:181590199
|
G | C | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.951+9423G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590199 | ||||||
| chr1:181590206
|
G | A | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.951+9430G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590206 | ||||||
| chr1:181590401
|
C | CA | 5 | a0001c0001t0004g0058a0001c0001t0012g0060a0001c0001t0025g0057others(2): Show | 5 | HG01192.hp1 HG01884.hp1 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.951+9641dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590401 | |||||
| chr1:181590401
|
CA | C | 19 | a0001c0001t0004g0146a0001c0001t0005g0086a0001c0001t0005g0172others(16): Show | 19 | HG00408.hp1 HG00735.hp2 HG01109.hp2 others(16): Show |
intron_variant | MODIFIER | c.951+9641delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590401 | |||||
| chr1:181590401
|
CAA | C | 8 | a0001c0001t0006g0042a0001c0001t0006g0075a0001c0001t0066g0070others(5): Show | 8 | HG01069.hp2 HG01074.hp1 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.951+9640_951+9641d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590401 | |||||
| chr1:181590410
|
A | ATAT | 4 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(1): Show | 4 | HG00323.hp1 HG00642.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+9634_951+9635i others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590410 | ||||||
| chr1:181590412
|
A | AATATATA others(13): Show |
1 | a0001c0001t0002g0126 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.951+9637_951+9638i others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590412 | |||||
| chr1:181590412
|
A | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+9636A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590412 | ||||||
| chr1:181590414
|
A | AATATATA others(7): Show |
1 | a0002c0002t0034g0080 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.951+9639_951+9640i others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590414 | |||||
| chr1:181590414
|
A | AATATATA others(13): Show |
1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.951+9639_951+9640i others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590414 | |||||
| chr1:181590414
|
A | ATATATAT others(6): Show |
2 | a0002c0002t0027g0036a0006c0018t0001g0056 | 2 | HG01243.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.951+9638_951+9639i others(15): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590414 | ||||||
| chr1:181590414
|
A | ATATATAT others(8): Show |
2 | a0003c0003t0072g0066a0005c0013t0020g0194 | 2 | HG02886.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.951+9638_951+9639i others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590414 | ||||||
| chr1:181590414
|
A | ATATATAT others(10): Show |
3 | a0002c0002t0010g0024a0002c0002t0029g0063a0002c0002t0037g0128 | 3 | HG02717.hp1 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.951+9638_951+9639i others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590414 | ||||||
| chr1:181590414
|
A | ATATATAT others(12): Show |
2 | a0001c0001t0002g0195a0008c0028t0068g0055 | 2 | HG02451.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.951+9638_951+9639i others(21): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590414 | ||||||
| chr1:181590414
|
A | T | 6 | a0001c0001t0002g0126a0001c0004t0002g0101a0001c0004t0002g0160others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+9638A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590414 | ||||||
| chr1:181590415
|
AAAT | A | 19 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0048g0054others(16): Show | 19 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(16): Show |
intron_variant | MODIFIER | c.951+9641_951+9643d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590415 | |||||
| chr1:181590416
|
A | AT | 2 | a0001c0001t0006g0131a0003c0003t0001g0009 | 2 | HG00642.hp2 NA18972.hp2 |
intron_variant | MODIFIER | c.951+9640_951+9641i others(3): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
A | ATAT | 3 | a0001c0008t0008g0164a0001c0008t0051g0165a0001c0024t0067g0004 | 3 | HG02976.hp2 NA18906.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.951+9640_951+9641i others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
A | ATATATAT others(10): Show |
1 | a0002c0002t0026g0175 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.951+9640_951+9641i others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
A | ATATATAT others(12): Show |
1 | a0001c0005t0032g0099 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.951+9640_951+9641i others(21): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
A | ATATATAT others(14): Show |
1 | a0001c0005t0032g0029 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.951+9640_951+9641i others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
A | T | 46 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0008g0179others(43): Show | 46 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.951+9640A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590416 | ||||||
| chr1:181590416
|
AAT | A | 34 | a0001c0001t0004g0078a0001c0001t0006g0151a0001c0001t0007g0188others(31): Show | 34 | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(31): Show |
intron_variant | MODIFIER | c.951+9659_951+9660d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181590416 | |||||
| chr1:181590417
|
A | G | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.951+9641A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590417 | ||||||
| chr1:181590417
|
AT | A | 44 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(41): Show | 44 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(41): Show |
intron_variant | MODIFIER | c.951+9642delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590417 | ||||||
| chr1:181590418
|
T | A | 4 | a0001c0001t0004g0058a0001c0001t0009g0085a0001c0001t0025g0057others(1): Show | 4 | HG01884.hp1 NA18522.hp1 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.951+9642T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590418 | ||||||
| chr1:181590420
|
T | A | 2 | a0002c0002t0013g0162a0002c0002t0028g0097 | 2 | NA18977.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.951+9644T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590420 | ||||||
| chr1:181590424
|
T | A | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.951+9648T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590424 | ||||||
| chr1:181590425
|
A | T | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.951+9649A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590425 | ||||||
| chr1:181590437
|
T | A | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+9661T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590437 | ||||||
| chr1:181590635
|
G | A | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.951+9859G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590635 | ||||||
| chr1:181590815
|
C | T | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+10039C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590815 | ||||||
| chr1:181590847
|
A | G | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.951+10071A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181590847 | ||||||
| chr1:181591009
|
A | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.951+10233A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591009 | ||||||
| chr1:181591014
|
T | C | 167 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(164): Show | 167 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.951+10238T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591014 | ||||||
| chr1:181591231
|
T | G | 34 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(31): Show | 34 | HG00323.hp1 HG00642.hp1 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.951+10455T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591231 | ||||||
| chr1:181591373
|
A | G | 1 | a0001c0008t0051g0165 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.951+10597A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591373 | ||||||
| chr1:181591468
|
A | G | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.951+10692A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591468 | ||||||
| chr1:181591861
|
G | C | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.951+11085G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591861 | ||||||
| chr1:181591928
|
A | G | 2 | a0002c0002t0003g0084a0002c0002t0044g0053 | 2 | NA18964.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.951+11152A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181591928 | ||||||
| chr1:181592151
|
C | T | 3 | a0001c0001t0005g0089a0003c0003t0005g0083a0003c0003t0005g0190 | 3 | NA18968.hp2 NA18972.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.951+11375C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592151 | ||||||
| chr1:181592262
|
C | A | 43 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(40): Show | 43 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.951+11486C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592262 | ||||||
| chr1:181592420
|
G | T | 1 | a0002c0002t0034g0080 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.951+11644G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592420 | ||||||
| chr1:181592583
|
A | C | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.951+11807A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592583 | ||||||
| chr1:181592597
|
G | A | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+11821G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592597 | ||||||
| chr1:181592647
|
C | T | 62 | a0001c0001t0004g0058a0001c0001t0004g0078a0001c0001t0005g0015others(59): Show | 62 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(59): Show |
intron_variant | MODIFIER | c.951+11871C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592647 | ||||||
| chr1:181592762
|
C | G | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+11986C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592762 | ||||||
| chr1:181592860
|
G | A | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.951+12084G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181592860 | ||||||
| chr1:181593062
|
T | C | 27 | a0001c0001t0002g0001a0001c0001t0008g0179a0001c0001t0013g0105others(24): Show | 27 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.951+12286T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593062 | ||||||
| chr1:181593133
|
C | T | 40 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(37): Show | 40 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.951+12357C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593133 | ||||||
| chr1:181593201
|
C | CT | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+12426dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181593201 | |||||
| chr1:181593335
|
G | C | 3 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203 | 3 | HG03669.hp2 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.951+12559G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593335 | ||||||
| chr1:181593628
|
G | A | 1 | a0004c0007t0023g0011 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.951+12852G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593628 | ||||||
| chr1:181593902
|
A | G | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+13126A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593902 | ||||||
| chr1:181593905
|
A | G | 51 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(48): Show | 51 | HG00323.hp1 HG00642.hp1 HG00673.hp1 others(48): Show |
intron_variant | MODIFIER | c.951+13129A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593905 | ||||||
| chr1:181593967
|
T | C | 2 | a0001c0001t0011g0068a0007c0019t0041g0116 | 2 | HG02717.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.951+13191T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181593967 | ||||||
| chr1:181594204
|
T | C | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+13428T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594204 | ||||||
| chr1:181594207
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.951+13431C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594207 | ||||||
| chr1:181594244
|
T | C | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+13468T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594244 | ||||||
| chr1:181594346
|
A | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+13570A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594346 | ||||||
| chr1:181594408
|
C | T | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+13632C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594408 | ||||||
| chr1:181594433
|
G | A | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+13657G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594433 | ||||||
| chr1:181594640
|
C | T | 11 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0059g0107others(8): Show | 11 | HG01891.hp2 HG02602.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+13864C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594640 | ||||||
| chr1:181594953
|
T | C | 151 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(148): Show | 151 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.951+14177T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181594953 | ||||||
| chr1:181595271
|
G | T | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.951+14495G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181595271 | ||||||
| chr1:181595319
|
C | T | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+14543C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181595319 | ||||||
| chr1:181595517
|
G | T | 15 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(12): Show | 15 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+14741G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181595517 | ||||||
| chr1:181595777
|
C | T | 166 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(163): Show | 166 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.951+15001C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181595777 | ||||||
| chr1:181595779
|
C | T | 2 | a0001c0001t0011g0068a0007c0019t0041g0116 | 2 | HG02717.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.951+15003C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181595779 | ||||||
| chr1:181596245
|
T | G | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+15469T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596245 | ||||||
| chr1:181596387
|
T | G | 1 | a0002c0002t0003g0202 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.951+15611T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596387 | ||||||
| chr1:181596407
|
C | T | 1 | a0003c0003t0061g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.951+15631C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596407 | ||||||
| chr1:181596425
|
G | C | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+15649G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596425 | ||||||
| chr1:181596557
|
C | CGT | 37 | a0001c0001t0008g0179a0001c0001t0013g0105a0001c0001t0013g0187others(34): Show | 37 | HG00609.hp1 HG00735.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.951+15820_951+1582 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGT | 12 | a0001c0001t0003g0044a0001c0001t0010g0028a0001c0001t0011g0068others(9): Show | 12 | HG01358.hp2 HG02257.hp1 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.951+15818_951+1582 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGT | 7 | a0001c0001t0002g0001a0001c0001t0039g0093a0001c0001t0074g0109others(4): Show | 7 | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.951+15816_951+1582 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGTG others(1): Show |
8 | a0001c0001t0005g0089a0001c0001t0006g0075a0001c0001t0006g0183others(5): Show | 8 | HG01358.hp1 HG01496.hp1 HG01934.hp2 others(5): Show |
intron_variant | MODIFIER | c.951+15814_951+1582 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGTG others(3): Show |
17 | a0001c0001t0001g0166a0001c0001t0003g0134a0001c0001t0005g0086others(14): Show | 17 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(14): Show |
intron_variant | MODIFIER | c.951+15812_951+1582 others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGTG others(5): Show |
10 | a0001c0001t0004g0146a0001c0001t0006g0189a0001c0020t0031g0074others(7): Show | 10 | HG00609.hp2 HG00741.hp2 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.951+15810_951+1582 others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGTG others(7): Show |
4 | a0001c0001t0003g0130a0001c0001t0014g0142a0001c0022t0056g0176others(1): Show | 4 | HG02135.hp1 HG03704.hp2 NA18942.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+15808_951+1582 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
C | CGTGTGTG others(15): Show |
1 | a0002c0002t0014g0125 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.951+15800_951+1582 others(26): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGT | C | 18 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0059g0107others(15): Show | 18 | HG00323.hp2 HG00673.hp1 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.951+15820_951+1582 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGTGT | C | 33 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0006g0131others(30): Show | 33 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.951+15818_951+1582 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGTGTGT | C | 11 | a0001c0001t0002g0126a0001c0001t0012g0100a0001c0004t0008g0032others(8): Show | 11 | HG01243.hp1 HG01891.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+15816_951+1582 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGTGTGTG others(1): Show |
C | 28 | a0001c0001t0002g0195a0001c0001t0006g0042a0001c0001t0006g0050others(25): Show | 28 | HG00438.hp1 HG01099.hp2 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.951+15814_951+1582 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGTGTGTG others(5): Show |
C | 2 | a0001c0012t0038g0002a0012c0016t0055g0156 | 2 | HG01169.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.951+15810_951+1582 others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596557
|
CGTGTGTG others(7): Show |
C | 4 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(1): Show | 4 | HG00323.hp1 HG00642.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+15808_951+1582 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181596557 | |||||
| chr1:181596669
|
C | G | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+15893C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596669 | ||||||
| chr1:181596679
|
G | A | 203 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(200): Show | 203 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
intron_variant | MODIFIER | c.951+15903G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596679 | ||||||
| chr1:181596761
|
C | T | 12 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0005t0032g0029others(9): Show | 12 | HG01243.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.951+15985C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596761 | ||||||
| chr1:181596909
|
A | C | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+16133A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596909 | ||||||
| chr1:181596913
|
G | A | 2 | a0001c0001t0003g0044a0003c0003t0005g0152 | 2 | NA18988.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.951+16137G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181596913 | ||||||
| chr1:181597237
|
C | A | 4 | a0001c0001t0011g0092a0001c0008t0008g0030a0001c0008t0008g0039others(1): Show | 4 | HG01074.hp1 HG01109.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.951+16461C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181597237 | ||||||
| chr1:181597497
|
A | G | 28 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(25): Show | 28 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(25): Show |
intron_variant | MODIFIER | c.951+16721A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181597497 | ||||||
| chr1:181597609
|
G | A | 2 | a0003c0003t0010g0127a0003c0014t0069g0196 | 2 | HG02809.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.951+16833G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181597609 | ||||||
| chr1:181597938
|
C | T | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.951+17162C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181597938 | ||||||
| chr1:181598036
|
C | T | 14 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.951+17260C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598036 | ||||||
| chr1:181598184
|
C | T | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.951+17408C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598184 | ||||||
| chr1:181598280
|
G | T | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.951+17504G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598280 | ||||||
| chr1:181598353
|
G | T | 14 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.951+17577G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598353 | ||||||
| chr1:181598404
|
A | G | 42 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(39): Show | 42 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.951+17628A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598404 | ||||||
| chr1:181598456
|
A | G | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+17680A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598456 | ||||||
| chr1:181598497
|
G | T | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.951+17721G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598497 | ||||||
| chr1:181598505
|
G | C | 3 | a0001c0001t0052g0081a0001c0004t0010g0067a0001c0004t0036g0062 | 3 | HG01891.hp1 HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.951+17729G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598505 | ||||||
| chr1:181598806
|
C | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+18030C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598806 | ||||||
| chr1:181598878
|
T | A | 1 | a0003c0003t0023g0182 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.951+18102T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598878 | ||||||
| chr1:181598930
|
AT | A | 17 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0050others(14): Show | 17 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.951+18167delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181598930 | |||||
| chr1:181598944
|
A | T | 3 | a0001c0009t0078g0040a0002c0002t0002g0140a0004c0007t0001g0016 | 3 | HG01258.hp2 HG01934.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.951+18168A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181598944 | ||||||
| chr1:181599107
|
C | A | 41 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(38): Show | 41 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.951+18331C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599107 | ||||||
| chr1:181599108
|
C | T | 1 | a0001c0006t0002g0205 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.951+18332C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599108 | ||||||
| chr1:181599122
|
C | T | 4 | a0001c0005t0018g0061a0001c0005t0030g0150a0001c0005t0030g0178others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+18346C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599122 | ||||||
| chr1:181599281
|
C | T | 11 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0059g0107others(8): Show | 11 | HG01891.hp2 HG02602.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+18505C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599281 | ||||||
| chr1:181599604
|
C | G | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.951+18828C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599604 | ||||||
| chr1:181599634
|
C | T | 163 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(160): Show | 163 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.951+18858C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599634 | ||||||
| chr1:181599744
|
A | G | 1 | a0003c0014t0069g0196 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.951+18968A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181599744 | ||||||
| chr1:181600334
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.951+19558C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600334 | ||||||
| chr1:181600433
|
A | C | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.951+19657A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600433 | ||||||
| chr1:181600632
|
G | A | 52 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(49): Show | 52 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(49): Show |
intron_variant | MODIFIER | c.951+19856G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600632 | ||||||
| chr1:181600669
|
G | T | 13 | a0001c0001t0006g0131a0002c0002t0002g0138a0002c0002t0002g0139others(10): Show | 13 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.951+19893G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600669 | ||||||
| chr1:181600733
|
A | G | 2 | a0001c0001t0014g0142a0002c0002t0015g0017 | 2 | NA18942.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.951+19957A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600733 | ||||||
| chr1:181600755
|
A | C | 112 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(109): Show | 112 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.951+19979A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181600755 | ||||||
| chr1:181601272
|
A | G | 1 | a0001c0004t0008g0122 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.951+20496A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601272 | ||||||
| chr1:181601395
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.951+20619G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601395 | ||||||
| chr1:181601406
|
G | A | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.951+20630G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601406 | ||||||
| chr1:181601617
|
T | G | 1 | a0001c0001t0005g0015 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.951+20841T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601617 | ||||||
| chr1:181601779
|
G | A | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.951+21003G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601779 | ||||||
| chr1:181601800
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.951+21024T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601800 | ||||||
| chr1:181601817
|
C | T | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.951+21041C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601817 | ||||||
| chr1:181601842
|
A | G | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.951+21066A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601842 | ||||||
| chr1:181601849
|
A | G | 2 | a0001c0008t0008g0030a0001c0008t0008g0039 | 2 | HG01074.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.951+21073A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601849 | ||||||
| chr1:181601868
|
G | T | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.951+21092G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601868 | ||||||
| chr1:181601920
|
C | G | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.951+21144C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601920 | ||||||
| chr1:181601938
|
T | G | 1 | a0001c0001t0003g0130 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.951+21162T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181601938 | ||||||
| chr1:181602149
|
A | G | 1 | a0003c0003t0001g0200 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.951+21373A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602149 | ||||||
| chr1:181602154
|
C | T | 4 | a0001c0005t0018g0061a0001c0005t0030g0150a0001c0005t0030g0178others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+21378C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602154 | ||||||
| chr1:181602315
|
T | C | 160 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(157): Show | 160 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(157): Show |
intron_variant | MODIFIER | c.951+21539T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602315 | ||||||
| chr1:181602439
|
A | G | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.951+21663A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602439 | ||||||
| chr1:181602881
|
G | A | 1 | a0002c0002t0007g0069 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.951+22105G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602881 | ||||||
| chr1:181602892
|
A | T | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.951+22116A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602892 | ||||||
| chr1:181602951
|
C | G | 1 | a0001c0001t0004g0058 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.951+22175C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602951 | ||||||
| chr1:181602952
|
G | A | 115 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(112): Show | 115 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.951+22176G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181602952 | ||||||
| chr1:181603030
|
A | G | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.951+22254A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603030 | ||||||
| chr1:181603031
|
G | C | 204 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.951+22255G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603031 | ||||||
| chr1:181603157
|
G | A | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.951+22381G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603157 | ||||||
| chr1:181603219
|
G | A | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.951+22443G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603219 | ||||||
| chr1:181603334
|
A | C | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.951+22558A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603334 | ||||||
| chr1:181603433
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.951+22657T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603433 | ||||||
| chr1:181603585
|
C | T | 116 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(113): Show | 116 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(113): Show |
intron_variant | MODIFIER | c.951+22809C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603585 | ||||||
| chr1:181603606
|
C | T | 1 | a0001c0006t0004g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.951+22830C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603606 | ||||||
| chr1:181603821
|
C | T | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.951+23045C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181603821 | ||||||
| chr1:181604051
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.951+23275C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604051 | ||||||
| chr1:181604117
|
TC | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.951+23342delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604117 | ||||||
| chr1:181604123
|
T | G | 117 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(114): Show | 117 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.951+23347T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604123 | ||||||
| chr1:181604159
|
A | G | 1 | a0001c0001t0059g0107 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.951+23383A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604159 | ||||||
| chr1:181604207
|
A | G | 3 | a0001c0005t0024g0003a0001c0009t0018g0041a0008c0028t0068g0055 | 3 | HG02257.hp2 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.951+23431A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604207 | ||||||
| chr1:181604948
|
G | C | 1 | a0001c0001t0003g0134 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.951+24172G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181604948 | ||||||
| chr1:181605312
|
G | C | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.951+24536G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605312 | ||||||
| chr1:181605411
|
C | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.951+24635C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605411 | ||||||
| chr1:181605425
|
C | G | 2 | a0001c0008t0008g0164a0001c0008t0051g0165 | 2 | NA18906.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.951+24649C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605425 | ||||||
| chr1:181605454
|
G | A | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.951+24678G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605454 | ||||||
| chr1:181605586
|
A | G | 14 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0024g0112others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.951+24810A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605586 | ||||||
| chr1:181605597
|
C | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+24821C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605597 | ||||||
| chr1:181605818
|
C | T | 6 | a0001c0001t0004g0146a0001c0011t0004g0206a0003c0003t0001g0012others(3): Show | 6 | HG00741.hp1 HG01934.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.951+25042C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605818 | ||||||
| chr1:181605819
|
G | A | 2 | a0003c0003t0010g0127a0003c0014t0069g0196 | 2 | HG02809.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.951+25043G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181605819 | ||||||
| chr1:181606053
|
G | A | 39 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(36): Show | 39 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.951+25277G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606053 | ||||||
| chr1:181606328
|
G | A | 5 | a0001c0001t0011g0092a0001c0008t0008g0030a0001c0008t0008g0039others(2): Show | 5 | HG01069.hp2 HG01074.hp1 HG01109.hp2 others(2): Show |
intron_variant | MODIFIER | c.951+25552G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606328 | ||||||
| chr1:181606416
|
T | C | 11 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(8): Show | 11 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+25640T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606416 | ||||||
| chr1:181606418
|
G | A | 1 | a0003c0003t0001g0012 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.951+25642G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606418 | ||||||
| chr1:181606509
|
C | T | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.951+25733C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606509 | ||||||
| chr1:181606542
|
T | C | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.951+25766T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606542 | ||||||
| chr1:181606613
|
A | G | 8 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(5): Show | 8 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.951+25837A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606613 | ||||||
| chr1:181606647
|
T | C | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+25871T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606647 | ||||||
| chr1:181606743
|
A | G | 2 | a0003c0003t0010g0127a0003c0014t0069g0196 | 2 | HG02809.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.951+25967A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606743 | ||||||
| chr1:181606780
|
C | T | 1 | a0002c0002t0015g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.951+26004C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181606780 | ||||||
| chr1:181607168
|
G | A | 6 | a0001c0001t0010g0028a0001c0001t0011g0038a0001c0001t0012g0060others(3): Show | 6 | HG01192.hp1 HG02615.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.951+26392G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607168 | ||||||
| chr1:181607530
|
T | C | 2 | a0003c0003t0010g0127a0003c0014t0069g0196 | 2 | HG02809.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.951+26754T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607530 | ||||||
| chr1:181607550
|
G | A | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.951+26774G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607550 | ||||||
| chr1:181607602
|
C | T | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.951+26826C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607602 | ||||||
| chr1:181607642
|
T | G | 2 | a0002c0002t0014g0125a0002c0002t0028g0021 | 2 | HG02015.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.951+26866T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607642 | ||||||
| chr1:181607830
|
G | A | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.951+27054G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181607830 | ||||||
| chr1:181608185
|
A | C | 175 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(172): Show | 175 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(172): Show |
intron_variant | MODIFIER | c.951+27409A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608185 | ||||||
| chr1:181608219
|
C | T | 11 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(8): Show | 11 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+27443C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608219 | ||||||
| chr1:181608238
|
C | A | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.951+27462C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608238 | ||||||
| chr1:181608283
|
C | T | 3 | a0001c0001t0002g0126a0002c0002t0027g0036a0005c0013t0020g0194 | 3 | HG01243.hp1 HG02976.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.951+27507C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608283 | ||||||
| chr1:181608308
|
G | A | 6 | a0001c0001t0010g0028a0001c0001t0011g0038a0001c0001t0012g0060others(3): Show | 6 | HG01192.hp1 HG02615.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.951+27532G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608308 | ||||||
| chr1:181608497
|
G | C | 165 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(162): Show | 165 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(162): Show |
intron_variant | MODIFIER | c.951+27721G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608497 | ||||||
| chr1:181608590
|
C | T | 11 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(8): Show | 11 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+27814C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608590 | ||||||
| chr1:181608731
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.951+27955C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608731 | ||||||
| chr1:181608766
|
C | T | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.951+27990C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608766 | ||||||
| chr1:181608920
|
C | T | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+28144C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608920 | ||||||
| chr1:181608944
|
A | G | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG01192.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.951+28168A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608944 | ||||||
| chr1:181608969
|
G | A | 203 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(200): Show | 203 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
intron_variant | MODIFIER | c.951+28193G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608969 | ||||||
| chr1:181608972
|
A | T | 4 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(1): Show | 4 | HG01074.hp1 HG01884.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+28196A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181608972 | ||||||
| chr1:181609096
|
A | G | 3 | a0001c0004t0031g0095a0001c0011t0004g0091a0002c0002t0007g0090 | 3 | HG01192.hp2 HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.951+28320A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181609096 | ||||||
| chr1:181609374
|
G | A | 1 | a0001c0001t0012g0060 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.951+28598G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181609374 | ||||||
| chr1:181609526
|
G | C | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.951+28750G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181609526 | ||||||
| chr1:181609651
|
T | C | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.951+28875T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181609651 | ||||||
| chr1:181609980
|
C | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.951+29204C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181609980 | ||||||
| chr1:181610060
|
G | A | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.951+29284G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610060 | ||||||
| chr1:181610095
|
G | A | 47 | a0001c0001t0003g0134a0001c0001t0004g0058a0001c0001t0004g0078others(44): Show | 47 | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.951+29319G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610095 | ||||||
| chr1:181610122
|
G | A | 9 | a0001c0001t0010g0028a0001c0001t0011g0038a0001c0001t0012g0060others(6): Show | 9 | HG01192.hp1 HG02257.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.951+29346G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610122 | ||||||
| chr1:181610337
|
G | A | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+29561G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610337 | ||||||
| chr1:181610347
|
A | G | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.951+29571A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610347 | ||||||
| chr1:181610452
|
A | G | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+29676A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610452 | ||||||
| chr1:181610561
|
A | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.951+29785A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610561 | ||||||
| chr1:181610645
|
T | C | 1 | a0002c0002t0002g0139 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.951+29869T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610645 | ||||||
| chr1:181610845
|
A | G | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.951+30069A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181610845 | ||||||
| chr1:181611402
|
GT | G | 53 | a0001c0001t0002g0195a0001c0001t0004g0078a0001c0001t0006g0131others(50): Show | 53 | HG00323.hp1 HG00642.hp1 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.951+30639delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181611402 | |||||
| chr1:181611484
|
G | T | 9 | a0001c0001t0010g0028a0001c0001t0011g0038a0001c0001t0012g0060others(6): Show | 9 | HG01192.hp1 HG02257.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.951+30708G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181611484 | ||||||
| chr1:181611870
|
A | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.951+31094A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181611870 | ||||||
| chr1:181612098
|
A | G | 1 | a0001c0001t0033g0088 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.951+31322A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612098 | ||||||
| chr1:181612537
|
T | G | 3 | a0001c0001t0005g0086a0001c0001t0005g0172a0001c0001t0009g0132 | 3 | HG00408.hp1 HG00438.hp2 HG02135.hp2 |
intron_variant | MODIFIER | c.951+31761T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612537 | ||||||
| chr1:181612570
|
T | C | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+31794T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612570 | ||||||
| chr1:181612679
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+31903G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612679 | ||||||
| chr1:181612767
|
C | G | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.951+31991C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612767 | ||||||
| chr1:181612787
|
C | T | 15 | a0001c0001t0010g0028a0001c0001t0011g0038a0001c0001t0012g0060others(12): Show | 15 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.951+32011C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181612787 | ||||||
| chr1:181612984
|
CTATT | C | 64 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(61): Show | 64 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.951+32213_951+3221 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181612984 | |||||
| chr1:181613011
|
T | C | 16 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(13): Show | 16 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.951+32235T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613011 | ||||||
| chr1:181613052
|
C | T | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.951+32276C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613052 | ||||||
| chr1:181613214
|
G | T | 36 | a0001c0001t0002g0195a0001c0001t0006g0131a0001c0001t0009g0135others(33): Show | 36 | HG00673.hp1 HG01071.hp1 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.951+32438G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613214 | ||||||
| chr1:181613359
|
G | A | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.951+32583G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613359 | ||||||
| chr1:181613404
|
A | G | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.951+32628A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613404 | ||||||
| chr1:181613449
|
A | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.951+32673A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613449 | ||||||
| chr1:181613683
|
C | T | 5 | a0001c0001t0011g0092a0001c0008t0008g0030a0001c0008t0008g0039others(2): Show | 5 | HG01074.hp1 HG01358.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.951+32907C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181613683 | ||||||
| chr1:181614116
|
A | G | 1 | a0001c0001t0009g0085 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.951+33340A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181614116 | ||||||
| chr1:181614194
|
A | ATTTTC | 33 | a0001c0001t0002g0001a0001c0001t0006g0131a0001c0001t0009g0135others(30): Show | 33 | HG00673.hp1 HG01071.hp1 HG01074.hp2 others(30): Show |
intron_variant | MODIFIER | c.951+33433_951+3343 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181614194 | |||||
| chr1:181614209
|
C | A | 12 | a0001c0001t0052g0081a0001c0001t0063g0026a0001c0001t0074g0109others(9): Show | 12 | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(9): Show |
intron_variant | MODIFIER | c.951+33433C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181614209 | ||||||
| chr1:181614607
|
A | G | 9 | a0001c0001t0011g0092a0001c0005t0026g0031a0001c0005t0071g0110others(6): Show | 9 | HG01074.hp1 HG01109.hp2 HG01358.hp2 others(6): Show |
intron_variant | MODIFIER | c.951+33831A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181614607 | ||||||
| chr1:181614880
|
C | T | 4 | a0001c0001t0003g0134a0001c0001t0006g0042a0001c0001t0006g0151others(1): Show | 4 | HG00438.hp1 HG02015.hp1 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.951+34104C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181614880 | ||||||
| chr1:181615053
|
A | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.951+34277A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615053 | ||||||
| chr1:181615252
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.951+34476G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615252 | ||||||
| chr1:181615344
|
C | T | 1 | a0003c0003t0001g0106 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.951+34568C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615344 | ||||||
| chr1:181615468
|
G | A | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG01192.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.951+34692G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615468 | ||||||
| chr1:181615484
|
G | T | 5 | a0001c0001t0004g0146a0001c0011t0004g0206a0003c0003t0001g0012others(2): Show | 5 | HG00741.hp1 HG01934.hp2 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.951+34708G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615484 | ||||||
| chr1:181615668
|
A | G | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.951+34892A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615668 | ||||||
| chr1:181615742
|
C | CTCATA | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+34968_951+3496 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181615742 | |||||
| chr1:181615742
|
C | CTCTTA | 167 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(164): Show | 167 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.951+34968_951+3497 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181615742 | |||||
| chr1:181615767
|
G | A | 1 | a0003c0003t0072g0066 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.951+34991G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615767 | ||||||
| chr1:181615991
|
T | C | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.951+35215T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181615991 | ||||||
| chr1:181616231
|
G | A | 6 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.952-35107G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616231 | ||||||
| chr1:181616340
|
G | T | 1 | a0002c0002t0044g0053 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.952-34998G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616340 | ||||||
| chr1:181616345
|
G | GT | 63 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(60): Show | 63 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.952-34985dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181616345 | |||||
| chr1:181616345
|
G | T | 1 | a0001c0001t0011g0092 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.952-34993G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616345 | ||||||
| chr1:181616538
|
C | T | 3 | a0001c0001t0006g0050a0002c0002t0015g0048a0002c0002t0015g0108 | 3 | HG02523.hp1 NA18942.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.952-34800C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616538 | ||||||
| chr1:181616637
|
T | C | 176 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(173): Show | 176 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(173): Show |
intron_variant | MODIFIER | c.952-34701T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616637 | ||||||
| chr1:181616669
|
G | A | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.952-34669G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616669 | ||||||
| chr1:181616680
|
C | T | 2 | a0004c0007t0001g0171a0004c0007t0023g0011 | 2 | HG01071.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.952-34658C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616680 | ||||||
| chr1:181616733
|
A | AACAAG | 4 | a0001c0001t0002g0126a0002c0002t0027g0036a0005c0013t0020g0194others(1): Show | 4 | HG01243.hp1 HG02717.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-34605_952-3460 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616733 | ||||||
| chr1:181616843
|
G | A | 1 | a0002c0002t0007g0090 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.952-34495G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616843 | ||||||
| chr1:181616846
|
T | G | 1 | a0001c0001t0007g0188 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.952-34492T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181616846 | ||||||
| chr1:181617125
|
A | G | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(7): Show | 10 | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.952-34213A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617125 | ||||||
| chr1:181617282
|
A | AT | 14 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(11): Show | 14 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(11): Show |
intron_variant | MODIFIER | c.952-34044dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181617282 | |||||
| chr1:181617282
|
AT | A | 15 | a0001c0001t0006g0131a0001c0005t0026g0031a0002c0002t0002g0138others(12): Show | 15 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.952-34044delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181617282 | |||||
| chr1:181617473
|
C | A | 1 | a0003c0003t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.952-33865C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617473 | ||||||
| chr1:181617485
|
C | T | 2 | a0002c0002t0003g0084a0002c0002t0044g0053 | 2 | NA18964.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.952-33853C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617485 | ||||||
| chr1:181617534
|
C | T | 1 | a0003c0010t0002g0035 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.952-33804C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617534 | ||||||
| chr1:181617548
|
G | C | 32 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(29): Show | 32 | HG00323.hp1 HG00642.hp1 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.952-33790G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617548 | ||||||
| chr1:181617810
|
C | T | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.952-33528C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617810 | ||||||
| chr1:181617836
|
G | A | 8 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(5): Show | 8 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.952-33502G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617836 | ||||||
| chr1:181617968
|
A | G | 201 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(198): Show | 201 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
intron_variant | MODIFIER | c.952-33370A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181617968 | ||||||
| chr1:181618125
|
G | A | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.952-33213G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618125 | ||||||
| chr1:181618142
|
G | A | 124 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(121): Show | 124 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.952-33196G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618142 | ||||||
| chr1:181618273
|
A | G | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.952-33065A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618273 | ||||||
| chr1:181618546
|
CAG | C | 26 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(23): Show | 26 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(23): Show |
intron_variant | MODIFIER | c.952-32789_952-3278 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181618546 | |||||
| chr1:181618617
|
C | T | 192 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-32721C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618617 | ||||||
| chr1:181618637
|
T | C | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-32701T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618637 | ||||||
| chr1:181618640
|
A | G | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.952-32698A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618640 | ||||||
| chr1:181618905
|
C | T | 192 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-32433C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618905 | ||||||
| chr1:181618924
|
T | G | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.952-32414T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181618924 | ||||||
| chr1:181619011
|
T | G | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.952-32327T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619011 | ||||||
| chr1:181619135
|
C | T | 64 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(61): Show | 64 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.952-32203C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619135 | ||||||
| chr1:181619210
|
T | TGATGGTG others(315): Show |
4 | a0001c0001t0008g0179a0001c0001t0013g0105a0001c0001t0058g0204others(1): Show | 4 | HG03688.hp1 HG03831.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.952-32114_952-3211 others(326): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181619210 | |||||
| chr1:181619210
|
T | TGATGGTG others(316): Show |
19 | a0001c0001t0002g0126a0001c0001t0011g0068a0001c0001t0013g0187others(16): Show | 19 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(16): Show |
intron_variant | MODIFIER | c.952-32114_952-3211 others(327): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181619210 | |||||
| chr1:181619210
|
T | TGATGGTG others(317): Show |
3 | a0002c0002t0003g0201a0003c0003t0001g0096a0005c0013t0020g0194 | 3 | HG02293.hp2 HG03209.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.952-32114_952-3211 others(328): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181619210 | |||||
| chr1:181619362
|
A | AAGGAGGG others(17): Show |
1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.952-31959_952-3195 others(28): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181619362 | |||||
| chr1:181619412
|
G | A | 2 | a0001c0001t0011g0068a0001c0001t0073g0114 | 2 | HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.952-31926G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619412 | ||||||
| chr1:181619740
|
A | G | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.952-31598A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619740 | ||||||
| chr1:181619827
|
G | A | 11 | a0001c0001t0009g0135a0001c0001t0012g0100a0001c0001t0059g0107others(8): Show | 11 | HG01891.hp2 HG02602.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.952-31511G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619827 | ||||||
| chr1:181619876
|
C | T | 27 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0012g0100others(24): Show | 27 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(24): Show |
intron_variant | MODIFIER | c.952-31462C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619876 | ||||||
| chr1:181619888
|
G | A | 16 | a0001c0001t0008g0179a0001c0001t0013g0105a0001c0001t0013g0187others(13): Show | 16 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.952-31450G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619888 | ||||||
| chr1:181619947
|
A | G | 1 | a0002c0029t0001g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.952-31391A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181619947 | ||||||
| chr1:181620496
|
C | A | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.952-30842C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181620496 | ||||||
| chr1:181620859
|
A | G | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.952-30479A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181620859 | ||||||
| chr1:181620879
|
C | G | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.952-30459C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181620879 | ||||||
| chr1:181620939
|
C | T | 67 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(64): Show | 67 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.952-30399C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181620939 | ||||||
| chr1:181620941
|
A | C | 67 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(64): Show | 67 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.952-30397A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181620941 | ||||||
| chr1:181621070
|
C | G | 26 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0011g0068others(23): Show | 26 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(23): Show |
intron_variant | MODIFIER | c.952-30268C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181621070 | ||||||
| chr1:181621722
|
C | T | 125 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-29616C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181621722 | ||||||
| chr1:181621970
|
C | A | 16 | a0001c0001t0008g0179a0001c0001t0013g0105a0001c0001t0013g0187others(13): Show | 16 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.952-29368C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181621970 | ||||||
| chr1:181622127
|
T | C | 1 | a0001c0001t0017g0046 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.952-29211T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622127 | ||||||
| chr1:181622161
|
G | A | 1 | a0001c0001t0017g0046 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.952-29177G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622161 | ||||||
| chr1:181622195
|
C | T | 1 | a0003c0003t0014g0082 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.952-29143C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622195 | ||||||
| chr1:181622551
|
G | T | 2 | a0001c0001t0011g0068a0001c0001t0073g0114 | 2 | HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.952-28787G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622551 | ||||||
| chr1:181622560
|
T | A | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.952-28778T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622560 | ||||||
| chr1:181622620
|
C | T | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0059g0107others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.952-28718C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622620 | ||||||
| chr1:181622766
|
A | G | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.952-28572A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622766 | ||||||
| chr1:181622844
|
A | G | 2 | a0001c0001t0003g0134a0001c0001t0006g0183 | 2 | HG02132.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.952-28494A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181622844 | ||||||
| chr1:181623301
|
A | G | 1 | a0002c0002t0003g0144 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.952-28037A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623301 | ||||||
| chr1:181623502
|
G | A | 1 | a0001c0001t0008g0179 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.952-27836G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623502 | ||||||
| chr1:181623561
|
T | C | 126 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(123): Show | 126 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.952-27777T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623561 | ||||||
| chr1:181623568
|
G | A | 125 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-27770G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623568 | ||||||
| chr1:181623674
|
T | C | 2 | a0001c0001t0019g0034a0002c0002t0001g0022 | 2 | HG02630.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.952-27664T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623674 | ||||||
| chr1:181623732
|
T | C | 1 | a0005c0027t0027g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.952-27606T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623732 | ||||||
| chr1:181623780
|
T | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.952-27558T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623780 | ||||||
| chr1:181623783
|
G | C | 26 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0011g0068others(23): Show | 26 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(23): Show |
intron_variant | MODIFIER | c.952-27555G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623783 | ||||||
| chr1:181623838
|
A | G | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.952-27500A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623838 | ||||||
| chr1:181623875
|
T | G | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.952-27463T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623875 | ||||||
| chr1:181623893
|
C | T | 1 | a0001c0001t0016g0181 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.952-27445C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181623893 | ||||||
| chr1:181624165
|
G | A | 125 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-27173G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624165 | ||||||
| chr1:181624346
|
T | A | 1 | a0001c0004t0016g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.952-26992T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624346 | ||||||
| chr1:181624373
|
T | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-26965T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624373 | ||||||
| chr1:181624607
|
A | G | 2 | a0001c0001t0011g0068a0007c0019t0041g0116 | 2 | HG02717.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.952-26731A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624607 | ||||||
| chr1:181624643
|
T | C | 25 | a0001c0001t0006g0131a0001c0001t0009g0135a0001c0001t0059g0107others(22): Show | 25 | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.952-26695T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624643 | ||||||
| chr1:181624951
|
T | C | 125 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-26387T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181624951 | ||||||
| chr1:181625047
|
CT | C | 9 | a0001c0001t0010g0028a0001c0001t0012g0005a0001c0001t0012g0060others(6): Show | 9 | HG01099.hp1 HG01192.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.952-26269delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181625047 | |||||
| chr1:181625047
|
CTT | C | 12 | a0001c0001t0002g0001a0001c0001t0004g0058a0001c0001t0006g0123others(9): Show | 12 | HG00280.hp2 HG01074.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.952-26270_952-2626 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181625047 | |||||
| chr1:181625047
|
CTTT | C | 113 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(110): Show | 113 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.952-26271_952-2626 others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181625047 | |||||
| chr1:181625047
|
CTTTT | C | 28 | a0001c0001t0007g0154a0001c0001t0008g0179a0001c0001t0011g0068others(25): Show | 28 | HG00609.hp1 HG00642.hp2 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.952-26272_952-2626 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181625047 | |||||
| chr1:181625047
|
CTTTTT | C | 40 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(37): Show | 40 | HG00642.hp1 HG00673.hp1 HG01071.hp1 others(37): Show |
intron_variant | MODIFIER | c.952-26273_952-2626 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181625047 | |||||
| chr1:181625077
|
A | C | 1 | a0002c0002t0003g0203 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.952-26261A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625077 | ||||||
| chr1:181625184
|
G | A | 125 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-26154G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625184 | ||||||
| chr1:181625234
|
C | T | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.952-26104C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625234 | ||||||
| chr1:181625271
|
C | T | 2 | a0001c0001t0002g0195a0002c0002t0037g0128 | 2 | HG02451.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.952-26067C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625271 | ||||||
| chr1:181625324
|
C | T | 3 | a0001c0004t0031g0095a0001c0011t0004g0091a0002c0002t0007g0090 | 3 | HG01192.hp2 HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.952-26014C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625324 | ||||||
| chr1:181625329
|
G | A | 191 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(188): Show | 191 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.952-26009G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625329 | ||||||
| chr1:181625590
|
C | T | 13 | a0001c0001t0052g0081a0001c0001t0063g0026a0001c0001t0070g0037others(10): Show | 13 | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.952-25748C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625590 | ||||||
| chr1:181625690
|
G | A | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.952-25648G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625690 | ||||||
| chr1:181625710
|
G | T | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.952-25628G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181625710 | ||||||
| chr1:181626071
|
T | C | 3 | a0001c0001t0016g0133a0002c0002t0003g0167a0002c0002t0049g0169 | 3 | HG02040.hp1 HG02132.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.952-25267T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626071 | ||||||
| chr1:181626222
|
G | A | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.952-25116G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626222 | ||||||
| chr1:181626227
|
G | A | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0009t0078g0040others(1): Show | 4 | HG02258.hp2 HG02723.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-25111G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626227 | ||||||
| chr1:181626261
|
C | T | 13 | a0001c0001t0052g0081a0001c0001t0074g0109a0001c0004t0010g0067others(10): Show | 13 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.952-25077C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626261 | ||||||
| chr1:181626425
|
A | G | 191 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(188): Show | 191 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.952-24913A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626425 | ||||||
| chr1:181626617
|
C | T | 5 | a0001c0001t0009g0135a0001c0001t0059g0107a0001c0001t0076g0087others(2): Show | 5 | HG02040.hp2 HG02602.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-24721C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626617 | ||||||
| chr1:181626843
|
T | C | 124 | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0130others(121): Show | 124 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.952-24495T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626843 | ||||||
| chr1:181626915
|
T | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.952-24423T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181626915 | ||||||
| chr1:181627087
|
G | A | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-24251G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627087 | ||||||
| chr1:181627260
|
T | C | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-24078T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627260 | ||||||
| chr1:181627304
|
G | A | 134 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(131): Show | 134 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.952-24034G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627304 | ||||||
| chr1:181627328
|
T | C | 18 | a0001c0001t0008g0179a0001c0001t0011g0068a0001c0001t0013g0105others(15): Show | 18 | HG00735.hp1 HG01243.hp1 HG02630.hp1 others(15): Show |
intron_variant | MODIFIER | c.952-24010T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627328 | ||||||
| chr1:181627542
|
G | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-23796G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627542 | ||||||
| chr1:181627615
|
C | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-23723C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627615 | ||||||
| chr1:181627911
|
G | T | 133 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(130): Show | 133 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(130): Show |
intron_variant | MODIFIER | c.952-23427G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181627911 | ||||||
| chr1:181628036
|
C | T | 134 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(131): Show | 134 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.952-23302C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628036 | ||||||
| chr1:181628067
|
T | C | 46 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0086others(43): Show | 46 | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.952-23271T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628067 | ||||||
| chr1:181628189
|
A | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-23149A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628189 | ||||||
| chr1:181628653
|
A | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.952-22685A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628653 | ||||||
| chr1:181628656
|
G | A | 1 | a0003c0003t0004g0124 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.952-22682G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628656 | ||||||
| chr1:181628669
|
G | A | 1 | a0001c0001t0002g0126 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.952-22669G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628669 | ||||||
| chr1:181628693
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-22645C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628693 | ||||||
| chr1:181628779
|
T | G | 18 | a0001c0001t0002g0126a0001c0001t0006g0131a0002c0002t0002g0138others(15): Show | 18 | HG00609.hp1 HG00673.hp1 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.952-22559T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628779 | ||||||
| chr1:181628940
|
A | G | 1 | a0003c0003t0014g0082 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.952-22398A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181628940 | ||||||
| chr1:181629064
|
G | T | 1 | a0003c0003t0001g0096 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.952-22274G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629064 | ||||||
| chr1:181629081
|
C | G | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-22257C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629081 | ||||||
| chr1:181629262
|
TG | T | 4 | a0001c0001t0011g0038a0001c0005t0026g0031a0001c0005t0071g0110others(1): Show | 4 | HG02257.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.952-22075delG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629262 | ||||||
| chr1:181629264
|
C | A | 134 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(131): Show | 134 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.952-22074C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629264 | ||||||
| chr1:181629326
|
T | C | 202 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(199): Show | 202 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
intron_variant | MODIFIER | c.952-22012T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629326 | ||||||
| chr1:181629370
|
A | G | 6 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0012g0060others(3): Show | 6 | HG01074.hp2 HG01192.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.952-21968A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629370 | ||||||
| chr1:181629492
|
C | T | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.952-21846C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629492 | ||||||
| chr1:181629601
|
T | C | 1 | a0003c0003t0001g0106 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.952-21737T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629601 | ||||||
| chr1:181629637
|
TG | T | 3 | a0001c0001t0013g0187a0001c0005t0024g0003a0008c0028t0068g0055 | 3 | HG02738.hp2 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.952-21700delG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629637 | ||||||
| chr1:181629638
|
G | A | 188 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(185): Show | 188 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(185): Show |
intron_variant | MODIFIER | c.952-21700G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629638 | ||||||
| chr1:181629679
|
C | A | 134 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(131): Show | 134 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.952-21659C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629679 | ||||||
| chr1:181629708
|
A | G | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.952-21630A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629708 | ||||||
| chr1:181629818
|
T | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-21520T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629818 | ||||||
| chr1:181629853
|
G | T | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-21485G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629853 | ||||||
| chr1:181629897
|
G | A | 135 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(132): Show | 135 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.952-21441G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629897 | ||||||
| chr1:181629953
|
T | G | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-21385T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181629953 | ||||||
| chr1:181630102
|
C | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.952-21236C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630102 | ||||||
| chr1:181630119
|
TG | T | 125 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-21213delG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181630119 | |||||
| chr1:181630190
|
G | T | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-21148G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630190 | ||||||
| chr1:181630245
|
C | T | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-21093C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630245 | ||||||
| chr1:181630384
|
G | GC | 11 | a0001c0001t0011g0068a0001c0001t0013g0105a0001c0001t0058g0204others(8): Show | 11 | HG02040.hp2 HG02630.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.952-20947dupC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181630384 | |||||
| chr1:181630391
|
CA | C | 9 | a0001c0004t0008g0032a0001c0004t0008g0122a0001c0005t0018g0061others(6): Show | 9 | HG01891.hp2 HG02615.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.952-20946delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630391 | ||||||
| chr1:181630392
|
A | C | 39 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0011g0068others(36): Show | 39 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(36): Show |
intron_variant | MODIFIER | c.952-20946A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630392 | ||||||
| chr1:181630392
|
A | G | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.952-20946A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630392 | ||||||
| chr1:181630570
|
G | A | 4 | a0001c0001t0024g0112a0002c0002t0034g0080a0003c0003t0010g0127others(1): Show | 4 | HG01109.hp1 HG02451.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.952-20768G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630570 | ||||||
| chr1:181630630
|
A | G | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.952-20708A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630630 | ||||||
| chr1:181630772
|
C | T | 1 | a0001c0006t0004g0014 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.952-20566C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630772 | ||||||
| chr1:181630865
|
A | G | 125 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(122): Show | 125 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.952-20473A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630865 | ||||||
| chr1:181630987
|
G | T | 137 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.952-20351G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181630987 | ||||||
| chr1:181631102
|
G | A | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.952-20236G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631102 | ||||||
| chr1:181631202
|
G | A | 4 | a0001c0024t0067g0004a0002c0002t0027g0036a0002c0002t0050g0197others(1): Show | 4 | HG01243.hp1 HG02976.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.952-20136G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631202 | ||||||
| chr1:181631308
|
A | T | 5 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(2): Show | 5 | HG01884.hp1 HG02965.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-20030A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631308 | ||||||
| chr1:181631391
|
AT | A | 137 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.952-19946delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631391 | ||||||
| chr1:181631488
|
C | T | 1 | a0003c0003t0001g0076 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.952-19850C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631488 | ||||||
| chr1:181631494
|
C | T | 56 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(53): Show | 56 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.952-19844C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631494 | ||||||
| chr1:181631521
|
C | T | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-19817C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631521 | ||||||
| chr1:181631529
|
G | A | 137 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.952-19809G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631529 | ||||||
| chr1:181631548
|
C | T | 137 | a0001c0001t0001g0166a0001c0001t0002g0195a0001c0001t0003g0044others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.952-19790C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631548 | ||||||
| chr1:181631574
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-19764G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631574 | ||||||
| chr1:181631594
|
C | T | 57 | a0001c0001t0002g0126a0001c0001t0006g0131a0001c0001t0008g0179others(54): Show | 57 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.952-19744C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631594 | ||||||
| chr1:181631664
|
G | A | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.952-19674G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631664 | ||||||
| chr1:181631796
|
C | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-19542C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631796 | ||||||
| chr1:181631822
|
T | G | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-19516T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631822 | ||||||
| chr1:181631989
|
G | A | 2 | a0002c0002t0007g0069a0002c0002t0035g0145 | 2 | HG00741.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.952-19349G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181631989 | ||||||
| chr1:181632138
|
T | TGACACCT others(274): Show |
3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-19188_952-1918 others(285): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181632138 | |||||
| chr1:181632138
|
T | TGACACCT others(279): Show |
17 | a0001c0001t0008g0179a0001c0001t0013g0105a0001c0001t0013g0187others(14): Show | 17 | HG00735.hp1 HG01243.hp1 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.952-19188_952-1918 others(290): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181632138 | |||||
| chr1:181632138
|
T | TGACACCT others(280): Show |
1 | a0001c0001t0011g0068 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.952-19188_952-1918 others(291): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181632138 | |||||
| chr1:181632233
|
C | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-19105C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632233 | ||||||
| chr1:181632254
|
C | T | 1 | a0002c0002t0020g0129 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.952-19084C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632254 | ||||||
| chr1:181632274
|
C | T | 128 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(125): Show | 128 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.952-19064C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632274 | ||||||
| chr1:181632293
|
C | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(7): Show | 10 | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.952-19045C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632293 | ||||||
| chr1:181632380
|
C | G | 5 | a0001c0001t0010g0028a0001c0001t0012g0060a0001c0001t0019g0034others(2): Show | 5 | HG01192.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.952-18958C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632380 | ||||||
| chr1:181632386
|
C | T | 1 | a0001c0001t0006g0183 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.952-18952C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632386 | ||||||
| chr1:181632588
|
C | A | 3 | a0001c0001t0004g0078a0001c0006t0011g0158a0001c0031t0004g0118 | 3 | HG01169.hp2 HG01175.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.952-18750C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632588 | ||||||
| chr1:181632734
|
C | A | 1 | a0007c0019t0041g0116 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.952-18604C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632734 | ||||||
| chr1:181632737
|
CT | C | 41 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(38): Show | 41 | HG00609.hp1 HG00673.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.952-18600delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632737 | ||||||
| chr1:181632862
|
A | G | 1 | a0001c0009t0018g0041 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.952-18476A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632862 | ||||||
| chr1:181632866
|
A | G | 126 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0003g0044others(123): Show | 126 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.952-18472A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181632866 | ||||||
| chr1:181633021
|
T | G | 3 | a0001c0001t0006g0075a0001c0004t0054g0018a0002c0002t0002g0155 | 3 | HG00408.hp2 NA19003.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.952-18317T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633021 | ||||||
| chr1:181633144
|
C | T | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.952-18194C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633144 | ||||||
| chr1:181633152
|
C | G | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-18186C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633152 | ||||||
| chr1:181633357
|
G | A | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.952-17981G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633357 | ||||||
| chr1:181633467
|
G | T | 9 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(6): Show | 9 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.952-17871G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633467 | ||||||
| chr1:181633653
|
G | A | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.952-17685G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633653 | ||||||
| chr1:181633745
|
G | A | 44 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(41): Show | 44 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.952-17593G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633745 | ||||||
| chr1:181633984
|
G | T | 183 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(180): Show | 183 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.952-17354G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181633984 | ||||||
| chr1:181634022
|
C | T | 1 | a0001c0001t0006g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.952-17316C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634022 | ||||||
| chr1:181634104
|
G | A | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-17234G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634104 | ||||||
| chr1:181634162
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.952-17176C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634162 | ||||||
| chr1:181634163
|
G | A | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-17175G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634163 | ||||||
| chr1:181634262
|
A | G | 1 | a0001c0009t0018g0041 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.952-17076A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634262 | ||||||
| chr1:181634342
|
C | G | 2 | a0001c0004t0002g0199a0009c0021t0002g0098 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.952-16996C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634342 | ||||||
| chr1:181634415
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-16923C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634415 | ||||||
| chr1:181634418
|
G | A | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.952-16920G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634418 | ||||||
| chr1:181634730
|
C | T | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-16608C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634730 | ||||||
| chr1:181634733
|
T | C | 1 | a0001c0001t0006g0123 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.952-16605T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634733 | ||||||
| chr1:181634760
|
C | T | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-16578C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634760 | ||||||
| chr1:181634765
|
C | A | 2 | a0002c0002t0021g0010a0002c0002t0021g0115 | 2 | HG00639.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.952-16573C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634765 | ||||||
| chr1:181634809
|
A | G | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-16529A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634809 | ||||||
| chr1:181634899
|
C | A | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-16439C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634899 | ||||||
| chr1:181634903
|
C | T | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-16435C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634903 | ||||||
| chr1:181634927
|
T | C | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-16411T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181634927 | ||||||
| chr1:181635023
|
G | A | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-16315G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635023 | ||||||
| chr1:181635120
|
G | A | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-16218G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635120 | ||||||
| chr1:181635260
|
G | A | 32 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(29): Show | 32 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.952-16078G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635260 | ||||||
| chr1:181635400
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-15938C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635400 | ||||||
| chr1:181635472
|
T | A | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-15866T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635472 | ||||||
| chr1:181635543
|
A | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-15795A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635543 | ||||||
| chr1:181635583
|
G | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.952-15755G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635583 | ||||||
| chr1:181635604
|
G | C | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-15734G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635604 | ||||||
| chr1:181635808
|
C | T | 1 | a0003c0003t0001g0200 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.952-15530C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635808 | ||||||
| chr1:181635822
|
T | C | 1 | a0001c0006t0004g0117 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.952-15516T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635822 | ||||||
| chr1:181635938
|
A | G | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.952-15400A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181635938 | ||||||
| chr1:181636008
|
T | C | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-15330T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636008 | ||||||
| chr1:181636028
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.952-15310C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636028 | ||||||
| chr1:181636029
|
A | G | 115 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(112): Show | 115 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.952-15309A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636029 | ||||||
| chr1:181636032
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-15306G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636032 | ||||||
| chr1:181636160
|
T | C | 2 | a0002c0002t0003g0084a0002c0002t0044g0053 | 2 | NA18964.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.952-15178T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636160 | ||||||
| chr1:181636196
|
C | G | 1 | a0001c0001t0019g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.952-15142C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636196 | ||||||
| chr1:181636401
|
A | G | 1 | a0002c0002t0002g0140 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.952-14937A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636401 | ||||||
| chr1:181636541
|
G | A | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-14797G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636541 | ||||||
| chr1:181636820
|
A | G | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-14518A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636820 | ||||||
| chr1:181636829
|
T | G | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-14509T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636829 | ||||||
| chr1:181636977
|
A | G | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-14361A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181636977 | ||||||
| chr1:181637151
|
A | T | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-14187A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637151 | ||||||
| chr1:181637271
|
G | C | 32 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(29): Show | 32 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.952-14067G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637271 | ||||||
| chr1:181637354
|
A | C | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-13984A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637354 | ||||||
| chr1:181637374
|
A | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-13964A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637374 | ||||||
| chr1:181637406
|
TCCTC | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-13918_952-1391 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181637406 | |||||
| chr1:181637432
|
TTCCC | T | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-13884_952-1388 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181637432 | |||||
| chr1:181637442
|
C | G | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-13896C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637442 | ||||||
| chr1:181637474
|
G | GCCTT | 3 | a0001c0001t0011g0038a0001c0009t0040g0141a0001c0012t0029g0163 | 3 | HG02280.hp2 HG02615.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.952-13851_952-1384 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181637474 | |||||
| chr1:181637579
|
T | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.952-13759T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637579 | ||||||
| chr1:181637759
|
T | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-13579T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181637759 | ||||||
| chr1:181638002
|
G | C | 183 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(180): Show | 183 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.952-13336G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638002 | ||||||
| chr1:181638158
|
C | G | 113 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(110): Show | 113 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(110): Show |
intron_variant | MODIFIER | c.952-13180C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638158 | ||||||
| chr1:181638199
|
A | C | 2 | a0001c0011t0004g0091a0001c0011t0004g0206 | 2 | HG01192.hp2 HG01993.hp2 |
intron_variant | MODIFIER | c.952-13139A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638199 | ||||||
| chr1:181638279
|
A | G | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-13059A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638279 | ||||||
| chr1:181638506
|
C | T | 3 | a0001c0001t0048g0054a0001c0004t0008g0032a0001c0004t0008g0122 | 3 | HG03098.hp2 HG03195.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.952-12832C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638506 | ||||||
| chr1:181638514
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-12824C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638514 | ||||||
| chr1:181638628
|
C | T | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-12710C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638628 | ||||||
| chr1:181638770
|
A | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-12568A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638770 | ||||||
| chr1:181638801
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-12537C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638801 | ||||||
| chr1:181638806
|
G | A | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-12532G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638806 | ||||||
| chr1:181638855
|
C | G | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-12483C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638855 | ||||||
| chr1:181638863
|
A | G | 1 | a0001c0001t0003g0134 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.952-12475A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181638863 | ||||||
| chr1:181639045
|
T | C | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-12293T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639045 | ||||||
| chr1:181639084
|
G | A | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-12254G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639084 | ||||||
| chr1:181639092
|
C | CT | 11 | a0001c0001t0004g0058a0001c0001t0013g0105a0001c0001t0025g0057others(8): Show | 11 | HG01069.hp2 HG01884.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.952-12233dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181639092 | |||||
| chr1:181639116
|
C | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-12222C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639116 | ||||||
| chr1:181639177
|
G | A | 2 | a0001c0001t0004g0146a0003c0003t0001g0149 | 2 | HG01934.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.952-12161G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639177 | ||||||
| chr1:181639189
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.952-12149G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639189 | ||||||
| chr1:181639248
|
C | T | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.952-12090C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639248 | ||||||
| chr1:181639262
|
G | A | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(4): Show | 7 | HG01074.hp2 HG01099.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.952-12076G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639262 | ||||||
| chr1:181639262
|
G | C | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.952-12076G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639262 | ||||||
| chr1:181639550
|
T | C | 1 | a0002c0002t0002g0191 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.952-11788T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639550 | ||||||
| chr1:181639628
|
G | A | 1 | a0001c0004t0036g0062 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.952-11710G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639628 | ||||||
| chr1:181639671
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-11667C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639671 | ||||||
| chr1:181639824
|
G | A | 2 | a0001c0005t0026g0031a0001c0009t0018g0041 | 2 | HG02257.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.952-11514G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639824 | ||||||
| chr1:181639996
|
C | T | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-11342C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181639996 | ||||||
| chr1:181640025
|
G | A | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-11313G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640025 | ||||||
| chr1:181640040
|
G | A | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-11298G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640040 | ||||||
| chr1:181640431
|
G | A | 54 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0006g0131others(51): Show | 54 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.952-10907G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640431 | ||||||
| chr1:181640595
|
A | G | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-10743A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640595 | ||||||
| chr1:181640827
|
A | C | 9 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0004t0002g0101others(6): Show | 9 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.952-10511A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640827 | ||||||
| chr1:181640843
|
T | C | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-10495T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181640843 | ||||||
| chr1:181641030
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-10308C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641030 | ||||||
| chr1:181641134
|
A | G | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.952-10204A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641134 | ||||||
| chr1:181641260
|
A | G | 1 | a0001c0001t0007g0136 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.952-10078A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641260 | ||||||
| chr1:181641314
|
A | C | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.952-10024A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641314 | ||||||
| chr1:181641474
|
T | C | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-9864T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641474 | ||||||
| chr1:181641510
|
CT | C | 53 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0006g0131others(50): Show | 53 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.952-9826delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641510 | |||||
| chr1:181641703
|
G | GT | 16 | a0001c0001t0008g0179a0001c0001t0064g0013a0001c0001t0065g0173others(13): Show | 16 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.952-9607dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641703 | |||||
| chr1:181641703
|
G | GTTTTT | 5 | a0001c0001t0024g0112a0001c0004t0002g0101a0002c0002t0027g0036others(2): Show | 5 | HG00323.hp1 HG01109.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-9611_952-9607d others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641703 | |||||
| chr1:181641703
|
G | T | 6 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0009t0040g0141others(3): Show | 6 | HG02280.hp2 HG02723.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.952-9635G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641703 | ||||||
| chr1:181641703
|
GTTT | G | 52 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0006g0131others(49): Show | 52 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.952-9609_952-9607d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641703 | |||||
| chr1:181641711
|
T | G | 1 | a0001c0001t0019g0034 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.952-9627T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641711 | ||||||
| chr1:181641712
|
T | G | 3 | a0001c0001t0002g0001a0001c0001t0010g0028a0002c0002t0001g0022 | 3 | HG01074.hp2 HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.952-9626T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641712 | ||||||
| chr1:181641714
|
T | TTTG | 11 | a0001c0001t0004g0078a0001c0001t0016g0181a0001c0001t0039g0093others(8): Show | 11 | HG00741.hp2 HG01175.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.952-9622_952-9621i others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641714 | |||||
| chr1:181641715
|
T | G | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.952-9623T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641715 | ||||||
| chr1:181641715
|
T | TTG | 84 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(81): Show | 84 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.952-9622_952-9621i others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181641715 | |||||
| chr1:181641720
|
T | G | 47 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(44): Show | 47 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.952-9618T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641720 | ||||||
| chr1:181641724
|
T | G | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.952-9614T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641724 | ||||||
| chr1:181641737
|
A | G | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-9601A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641737 | ||||||
| chr1:181641799
|
C | T | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.952-9539C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641799 | ||||||
| chr1:181641840
|
A | C | 1 | a0001c0008t0008g0039 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.952-9498A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641840 | ||||||
| chr1:181641862
|
C | T | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.952-9476C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641862 | ||||||
| chr1:181641903
|
G | C | 3 | a0001c0024t0067g0004a0002c0002t0050g0197a0005c0013t0020g0194 | 3 | HG02976.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.952-9435G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641903 | ||||||
| chr1:181641954
|
C | T | 8 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0001g0119others(5): Show | 8 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.952-9384C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641954 | ||||||
| chr1:181641992
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-9346G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181641992 | ||||||
| chr1:181642001
|
C | T | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.952-9337C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642001 | ||||||
| chr1:181642138
|
T | A | 2 | a0002c0002t0029g0063a0007c0019t0041g0116 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.952-9200T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642138 | ||||||
| chr1:181642151
|
G | A | 137 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.952-9187G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642151 | ||||||
| chr1:181642244
|
C | T | 48 | a0001c0001t0004g0146a0001c0001t0006g0131a0001c0001t0011g0068others(45): Show | 48 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.952-9094C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642244 | ||||||
| chr1:181642329
|
G | A | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.952-9009G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642329 | ||||||
| chr1:181642378
|
C | T | 191 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(188): Show | 191 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.952-8960C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642378 | ||||||
| chr1:181642401
|
A | G | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-8937A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642401 | ||||||
| chr1:181642514
|
T | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-8824T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642514 | ||||||
| chr1:181642542
|
T | C | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.952-8796T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642542 | ||||||
| chr1:181642573
|
C | G | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-8765C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642573 | ||||||
| chr1:181642651
|
C | T | 50 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(47): Show | 50 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.952-8687C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642651 | ||||||
| chr1:181642652
|
A | G | 54 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0006g0131others(51): Show | 54 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.952-8686A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642652 | ||||||
| chr1:181642690
|
C | T | 50 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(47): Show | 50 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.952-8648C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642690 | ||||||
| chr1:181642905
|
T | C | 138 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(135): Show | 138 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.952-8433T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642905 | ||||||
| chr1:181642939
|
GC | G | 53 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(50): Show | 53 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.952-8398delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181642939 | ||||||
| chr1:181643224
|
C | A | 1 | a0001c0001t0003g0044 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.952-8114C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643224 | ||||||
| chr1:181643253
|
C | T | 137 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(134): Show | 137 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.952-8085C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643253 | ||||||
| chr1:181643355
|
G | C | 54 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(51): Show | 54 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.952-7983G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643355 | ||||||
| chr1:181643368
|
A | G | 55 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(52): Show | 55 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.952-7970A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643368 | ||||||
| chr1:181643617
|
G | T | 69 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0146others(66): Show | 69 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.952-7721G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643617 | ||||||
| chr1:181643801
|
C | T | 59 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(56): Show | 59 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.952-7537C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643801 | ||||||
| chr1:181643846
|
A | T | 120 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(117): Show | 120 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(117): Show |
intron_variant | MODIFIER | c.952-7492A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643846 | ||||||
| chr1:181643892
|
C | T | 120 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0044others(117): Show | 120 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(117): Show |
intron_variant | MODIFIER | c.952-7446C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181643892 | ||||||
| chr1:181644081
|
C | A | 1 | a0001c0001t0011g0068 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.952-7257C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644081 | ||||||
| chr1:181644081
|
C | G | 1 | a0001c0004t0054g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.952-7257C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644081 | ||||||
| chr1:181644100
|
G | T | 45 | a0001c0001t0004g0146a0001c0001t0011g0068a0001c0001t0011g0092others(42): Show | 45 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.952-7238G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644100 | ||||||
| chr1:181644210
|
TA | T | 8 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0001g0119others(5): Show | 8 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.952-7126delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181644210 | |||||
| chr1:181644329
|
C | T | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.952-7009C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644329 | ||||||
| chr1:181644443
|
G | A | 28 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(25): Show | 28 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.952-6895G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644443 | ||||||
| chr1:181644477
|
G | T | 72 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0146others(69): Show | 72 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.952-6861G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644477 | ||||||
| chr1:181644527
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.952-6811A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644527 | ||||||
| chr1:181644555
|
C | T | 72 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0146others(69): Show | 72 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.952-6783C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644555 | ||||||
| chr1:181644575
|
A | T | 1 | a0001c0001t0058g0204 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.952-6763A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644575 | ||||||
| chr1:181644643
|
C | G | 72 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0146others(69): Show | 72 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.952-6695C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644643 | ||||||
| chr1:181644658
|
G | A | 1 | a0001c0004t0004g0185 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.952-6680G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644658 | ||||||
| chr1:181644838
|
C | G | 1 | a0001c0001t0009g0085 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.952-6500C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181644838 | ||||||
| chr1:181645007
|
A | G | 72 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0146others(69): Show | 72 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.952-6331A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645007 | ||||||
| chr1:181645067
|
G | A | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.952-6271G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645067 | ||||||
| chr1:181645077
|
C | T | 2 | a0001c0001t0076g0087a0010c0023t0077g0008 | 2 | HG02040.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.952-6261C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645077 | ||||||
| chr1:181645078
|
G | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.952-6260G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645078 | ||||||
| chr1:181645150
|
A | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-6188A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645150 | ||||||
| chr1:181645168
|
A | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.952-6170A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645168 | ||||||
| chr1:181645314
|
T | A | 1 | a0001c0001t0005g0015 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.952-6024T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645314 | ||||||
| chr1:181645556
|
G | A | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG01884.hp1 HG03471.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-5782G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645556 | ||||||
| chr1:181645704
|
G | A | 1 | a0001c0004t0008g0122 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.952-5634G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645704 | ||||||
| chr1:181645849
|
A | G | 1 | a0002c0002t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.952-5489A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645849 | ||||||
| chr1:181645862
|
G | C | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.952-5476G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645862 | ||||||
| chr1:181645889
|
C | T | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.952-5449C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181645889 | ||||||
| chr1:181646133
|
C | T | 11 | a0001c0001t0052g0081a0001c0001t0074g0109a0001c0004t0010g0067others(8): Show | 11 | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.952-5205C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646133 | ||||||
| chr1:181646212
|
G | A | 6 | a0001c0001t0004g0146a0003c0003t0001g0012a0003c0003t0001g0076others(3): Show | 6 | HG00741.hp1 HG01934.hp2 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.952-5126G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646212 | ||||||
| chr1:181646306
|
C | A | 190 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(187): Show | 190 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(187): Show |
intron_variant | MODIFIER | c.952-5032C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646306 | ||||||
| chr1:181646375
|
C | A | 1 | a0003c0003t0022g0193 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.952-4963C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646375 | ||||||
| chr1:181646670
|
C | A | 3 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203 | 3 | HG03669.hp2 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.952-4668C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646670 | ||||||
| chr1:181646889
|
C | T | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(7): Show | 10 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(7): Show |
intron_variant | MODIFIER | c.952-4449C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646889 | ||||||
| chr1:181646891
|
A | G | 3 | a0001c0001t0009g0085a0001c0001t0014g0142a0002c0002t0015g0017 | 3 | NA18942.hp1 NA18977.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.952-4447A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181646891 | ||||||
| chr1:181647088
|
G | A | 2 | a0001c0001t0003g0134a0001c0001t0006g0183 | 2 | HG02132.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.952-4250G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647088 | ||||||
| chr1:181647101
|
T | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-4237T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647101 | ||||||
| chr1:181647130
|
A | T | 1 | a0003c0003t0022g0193 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.952-4208A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647130 | ||||||
| chr1:181647264
|
C | G | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-4074C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647264 | ||||||
| chr1:181647412
|
T | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-3926T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647412 | ||||||
| chr1:181647606
|
G | A | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-3732G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647606 | ||||||
| chr1:181647707
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.952-3631C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647707 | ||||||
| chr1:181647824
|
G | A | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.952-3514G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647824 | ||||||
| chr1:181647845
|
G | A | 4 | a0003c0003t0001g0119a0003c0003t0001g0120a0003c0003t0001g0200others(1): Show | 4 | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.952-3493G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647845 | ||||||
| chr1:181647880
|
G | A | 10 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(7): Show | 10 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(7): Show |
intron_variant | MODIFIER | c.952-3458G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181647880 | ||||||
| chr1:181648057
|
A | T | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-3281A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181648057 | ||||||
| chr1:181648338
|
A | G | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.952-3000A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181648338 | ||||||
| chr1:181648818
|
A | G | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.952-2520A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181648818 | ||||||
| chr1:181648965
|
C | G | 12 | a0001c0001t0004g0078a0001c0006t0002g0205a0001c0006t0004g0014others(9): Show | 12 | HG00323.hp2 HG00639.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.952-2373C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181648965 | ||||||
| chr1:181649379
|
C | CA | 9 | a0001c0001t0010g0028a0001c0001t0019g0034a0001c0004t0002g0101others(6): Show | 9 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.952-1948dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181649379 | |||||
| chr1:181649676
|
A | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.952-1662A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181649676 | ||||||
| chr1:181649794
|
A | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-1544A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181649794 | ||||||
| chr1:181650003
|
T | A | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.952-1335T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650003 | ||||||
| chr1:181650042
|
A | G | 1 | a0001c0001t0009g0132 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.952-1296A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650042 | ||||||
| chr1:181650044
|
A | G | 49 | a0001c0001t0004g0146a0001c0001t0011g0068a0001c0001t0011g0092others(46): Show | 49 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.952-1294A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650044 | ||||||
| chr1:181650169
|
G | A | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.952-1169G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650169 | ||||||
| chr1:181650434
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-904C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650434 | ||||||
| chr1:181650706
|
A | AT | 46 | a0001c0001t0004g0146a0001c0001t0011g0068a0001c0001t0011g0092others(43): Show | 46 | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.952-626dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | 181650706 | |||||
| chr1:181650731
|
A | G | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.952-607A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650731 | ||||||
| chr1:181650735
|
G | C | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.952-603G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650735 | ||||||
| chr1:181650784
|
A | G | 6 | a0001c0001t0004g0146a0003c0003t0001g0012a0003c0003t0001g0076others(3): Show | 6 | HG00741.hp1 HG01934.hp2 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.952-554A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650784 | ||||||
| chr1:181650788
|
C | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0003c0003t0061g0059 | 3 | HG01884.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.952-550C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181650788 | ||||||
| chr1:181651048
|
G | C | 5 | a0001c0001t0007g0121a0001c0001t0007g0136a0001c0001t0007g0154others(2): Show | 5 | HG01243.hp2 HG01358.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.952-290G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181651048 | ||||||
| chr1:181651078
|
T | C | 6 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0001g0200others(3): Show | 6 | HG00642.hp2 HG01123.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.952-260T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181651078 | ||||||
| chr1:181651142
|
G | A | 1 | a0001c0001t0043g0077 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.952-196G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | 181651142 | ||||||
| chr1:181651561
|
G | C | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1055+120G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181651561 | ||||||
| chr1:181651776
|
A | G | 1 | a0002c0002t0003g0201 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1055+335A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181651776 | ||||||
| chr1:181651905
|
T | C | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1055+464T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181651905 | ||||||
| chr1:181652270
|
A | G | 2 | a0002c0002t0003g0201a0002c0002t0003g0202 | 2 | HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1055+829A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652270 | ||||||
| chr1:181652464
|
A | G | 1 | a0001c0004t0004g0072 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1055+1023A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652464 | ||||||
| chr1:181652598
|
G | A | 18 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(15): Show | 18 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.1055+1157G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652598 | ||||||
| chr1:181652656
|
G | A | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1055+1215G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652656 | ||||||
| chr1:181652658
|
G | A | 18 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(15): Show | 18 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.1055+1217G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652658 | ||||||
| chr1:181652674
|
A | G | 30 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(27): Show | 30 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.1055+1233A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652674 | ||||||
| chr1:181652744
|
T | C | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1055+1303T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652744 | ||||||
| chr1:181652832
|
A | G | 18 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0011g0038others(15): Show | 18 | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.1055+1391A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181652832 | ||||||
| chr1:181653215
|
A | T | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1055+1774A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181653215 | ||||||
| chr1:181653688
|
T | C | 30 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(27): Show | 30 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.1055+2247T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181653688 | ||||||
| chr1:181653735
|
G | A | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1055+2294G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181653735 | ||||||
| chr1:181653838
|
C | T | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1055+2397C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181653838 | ||||||
| chr1:181653998
|
A | C | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.1055+2557A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181653998 | ||||||
| chr1:181654007
|
T | A | 192 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(189): Show | 192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.1055+2566T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654007 | ||||||
| chr1:181654143
|
A | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1055+2702A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654143 | ||||||
| chr1:181654155
|
TA | T | 55 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(52): Show | 55 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.1055+2725delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181654155 | |||||
| chr1:181654160
|
A | G | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.1055+2719A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654160 | ||||||
| chr1:181654226
|
A | AAT | 29 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(26): Show | 29 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.1055+2795_1055+279 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181654226 | |||||
| chr1:181654506
|
A | G | 1 | a0007c0019t0041g0116 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1055+3065A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654506 | ||||||
| chr1:181654588
|
T | C | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1055+3147T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654588 | ||||||
| chr1:181654705
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1055+3264C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654705 | ||||||
| chr1:181654713
|
G | A | 3 | a0001c0001t0002g0126a0001c0012t0029g0163a0005c0027t0027g0174 | 3 | HG02615.hp2 HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1055+3272G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654713 | ||||||
| chr1:181654756
|
G | A | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1055+3315G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654756 | ||||||
| chr1:181654828
|
C | CA | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1055+3393dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181654828 | |||||
| chr1:181654829
|
A | C | 1 | a0001c0006t0004g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1055+3388A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654829 | ||||||
| chr1:181654857
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+3416G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654857 | ||||||
| chr1:181654917
|
G | A | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1055+3476G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654917 | ||||||
| chr1:181654963
|
C | T | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1055+3522C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181654963 | ||||||
| chr1:181654982
|
CAAA | C | 25 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(22): Show | 25 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.1055+3560_1055+356 others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181654982 | |||||
| chr1:181655061
|
T | C | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1055+3620T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181655061 | ||||||
| chr1:181655629
|
T | C | 191 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0126others(188): Show | 191 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.1055+4188T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181655629 | ||||||
| chr1:181655700
|
C | T | 1 | a0001c0004t0004g0185 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1055+4259C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181655700 | ||||||
| chr1:181655715
|
A | G | 1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1055+4274A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181655715 | ||||||
| chr1:181655896
|
G | C | 3 | a0001c0024t0067g0004a0002c0002t0050g0197a0005c0013t0020g0194 | 3 | HG02976.hp2 HG03209.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1055+4455G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181655896 | ||||||
| chr1:181656131
|
C | T | 29 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(26): Show | 29 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(26): Show |
intron_variant | MODIFIER | c.1055+4690C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656131 | ||||||
| chr1:181656212
|
C | T | 2 | a0001c0006t0004g0019a0001c0006t0004g0102 | 2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1055+4771C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656212 | ||||||
| chr1:181656350
|
A | C | 12 | a0001c0001t0004g0078a0001c0006t0002g0205a0001c0006t0004g0014others(9): Show | 12 | HG00323.hp2 HG00639.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.1055+4909A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656350 | ||||||
| chr1:181656421
|
G | A | 13 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0032g0029others(10): Show | 13 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1055+4980G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656421 | ||||||
| chr1:181656456
|
A | T | 1 | a0003c0003t0022g0193 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1055+5015A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656456 | ||||||
| chr1:181656549
|
A | G | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1055+5108A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656549 | ||||||
| chr1:181656566
|
C | T | 90 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(87): Show | 90 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(87): Show |
intron_variant | MODIFIER | c.1055+5125C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656566 | ||||||
| chr1:181656567
|
G | A | 1 | a0001c0001t0013g0187 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1055+5126G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656567 | ||||||
| chr1:181656580
|
T | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+5139T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656580 | ||||||
| chr1:181656783
|
T | A | 1 | a0001c0004t0016g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1055+5342T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656783 | ||||||
| chr1:181656962
|
G | A | 1 | a0003c0003t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1055+5521G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181656962 | ||||||
| chr1:181657182
|
T | C | 1 | a0001c0001t0006g0123 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1055+5741T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657182 | ||||||
| chr1:181657210
|
C | T | 46 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0003g0130others(43): Show | 46 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.1055+5769C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657210 | ||||||
| chr1:181657218
|
G | T | 3 | a0003c0003t0005g0083a0003c0003t0005g0152a0003c0003t0005g0190 | 3 | NA18972.hp1 NA18988.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1055+5777G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657218 | ||||||
| chr1:181657283
|
A | G | 3 | a0001c0001t0063g0026a0001c0001t0070g0037a0001c0026t0042g0025 | 3 | HG02723.hp2 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+5842A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657283 | ||||||
| chr1:181657311
|
C | T | 2 | a0001c0001t0016g0181a0001c0004t0004g0137 | 2 | HG03492.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.1055+5870C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657311 | ||||||
| chr1:181657576
|
A | C | 1 | a0001c0001t0070g0037 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1055+6135A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657576 | ||||||
| chr1:181657591
|
G | A | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+6150G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657591 | ||||||
| chr1:181657661
|
G | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+6220G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657661 | ||||||
| chr1:181657878
|
C | T | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+6437C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657878 | ||||||
| chr1:181657892
|
G | A | 1 | a0001c0004t0004g0072 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1055+6451G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181657892 | ||||||
| chr1:181658158
|
G | A | 2 | a0001c0004t0002g0199a0009c0021t0002g0098 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1055+6717G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181658158 | ||||||
| chr1:181658272
|
G | GT | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1055+6834dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181658272 | |||||
| chr1:181658302
|
G | A | 27 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0011g0038others(24): Show | 27 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.1055+6861G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181658302 | ||||||
| chr1:181658411
|
C | T | 1 | a0001c0001t0004g0078 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1055+6970C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181658411 | ||||||
| chr1:181658451
|
T | C | 12 | a0001c0001t0005g0086a0001c0001t0005g0172a0001c0001t0007g0121others(9): Show | 12 | HG00408.hp1 HG00438.hp2 HG00673.hp2 others(9): Show |
intron_variant | MODIFIER | c.1055+7010T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181658451 | ||||||
| chr1:181658609
|
C | T | 1 | a0001c0004t0054g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1055+7168C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181658609 | ||||||
| chr1:181659660
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1055+8219C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181659660 | ||||||
| chr1:181659749
|
A | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1055+8308A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181659749 | ||||||
| chr1:181659755
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1055+8314C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181659755 | ||||||
| chr1:181659866
|
C | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+8425C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181659866 | ||||||
| chr1:181660458
|
A | C | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+9017A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660458 | ||||||
| chr1:181660482
|
T | C | 38 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(35): Show | 38 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(35): Show |
intron_variant | MODIFIER | c.1055+9041T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660482 | ||||||
| chr1:181660494
|
A | T | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1055+9053A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660494 | ||||||
| chr1:181660602
|
G | A | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1055+9161G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660602 | ||||||
| chr1:181660646
|
C | T | 1 | a0002c0002t0013g0162 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1055+9205C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660646 | ||||||
| chr1:181660703
|
C | G | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1055+9262C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660703 | ||||||
| chr1:181660950
|
C | A | 4 | a0001c0005t0018g0061a0001c0005t0030g0150a0001c0005t0030g0178others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1055+9509C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660950 | ||||||
| chr1:181660971
|
C | G | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+9530C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660971 | ||||||
| chr1:181660971
|
C | T | 3 | a0001c0001t0010g0028a0001c0001t0019g0034a0002c0002t0001g0022 | 3 | HG02630.hp2 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1055+9530C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181660971 | ||||||
| chr1:181661049
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+9608G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181661049 | ||||||
| chr1:181661743
|
C | A | 1 | a0002c0002t0037g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1055+10302C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181661743 | ||||||
| chr1:181662030
|
A | G | 1 | a0003c0003t0001g0106 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1055+10589A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662030 | ||||||
| chr1:181662112
|
G | T | 13 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(10): Show | 13 | HG00323.hp1 HG00642.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.1055+10671G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662112 | ||||||
| chr1:181662408
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+10967C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662408 | ||||||
| chr1:181662434
|
A | G | 2 | a0001c0001t0004g0058a0001c0001t0025g0057 | 2 | NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1055+10993A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662434 | ||||||
| chr1:181662468
|
A | C | 1 | a0002c0002t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1055+11027A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662468 | ||||||
| chr1:181662717
|
G | GGGAAAGA others(12): Show |
3 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203 | 3 | HG03669.hp2 HG03710.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1055+11277_1055+11 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181662717 | |||||
| chr1:181662733
|
T | C | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+11292T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181662733 | ||||||
| chr1:181663227
|
C | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+11786C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181663227 | ||||||
| chr1:181663378
|
C | G | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+11937C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181663378 | ||||||
| chr1:181663622
|
C | A | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1055+12181C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181663622 | ||||||
| chr1:181663655
|
G | T | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+12214G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181663655 | ||||||
| chr1:181663979
|
A | G | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1055+12538A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181663979 | ||||||
| chr1:181664061
|
C | G | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1055+12620C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664061 | ||||||
| chr1:181664303
|
G | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+12862G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664303 | ||||||
| chr1:181664366
|
G | C | 2 | a0001c0001t0005g0172a0001c0001t0009g0132 | 2 | HG00438.hp2 HG02135.hp2 |
intron_variant | MODIFIER | c.1055+12925G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664366 | ||||||
| chr1:181664375
|
A | T | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+12934A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664375 | ||||||
| chr1:181664578
|
T | C | 15 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(12): Show | 15 | HG01099.hp2 HG01123.hp2 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.1055+13137T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664578 | ||||||
| chr1:181664678
|
C | T | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1055+13237C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664678 | ||||||
| chr1:181664692
|
G | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1055+13251G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664692 | ||||||
| chr1:181664735
|
G | A | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1055+13294G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664735 | ||||||
| chr1:181664778
|
G | T | 1 | a0001c0004t0010g0067 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1055+13337G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664778 | ||||||
| chr1:181664930
|
C | A | 7 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(4): Show | 7 | HG02615.hp2 HG02738.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1055+13489C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181664930 | ||||||
| chr1:181665037
|
A | G | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1055+13596A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665037 | ||||||
| chr1:181665096
|
G | T | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+13655G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665096 | ||||||
| chr1:181665156
|
T | TAC | 4 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0006t0004g0117others(1): Show | 4 | HG02257.hp2 HG02738.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1055+13739_1055+13 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181665156 | |||||
| chr1:181665156
|
TAC | T | 166 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(163): Show | 166 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(163): Show |
intron_variant | MODIFIER | c.1055+13739_1055+13 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181665156 | |||||
| chr1:181665178
|
C | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.1055+13737C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665178 | ||||||
| chr1:181665489
|
G | A | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1055+14048G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665489 | ||||||
| chr1:181665573
|
T | G | 17 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(14): Show | 17 | HG00323.hp1 HG00642.hp1 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.1055+14132T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665573 | ||||||
| chr1:181665734
|
T | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+14293T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665734 | ||||||
| chr1:181665778
|
A | T | 1 | a0001c0001t0005g0089 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1055+14337A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665778 | ||||||
| chr1:181665820
|
C | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1055+14379C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665820 | ||||||
| chr1:181665852
|
T | C | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1055+14411T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665852 | ||||||
| chr1:181665909
|
C | G | 162 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(159): Show | 162 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.1055+14468C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181665909 | ||||||
| chr1:181666069
|
T | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1055+14628T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181666069 | ||||||
| chr1:181666500
|
T | G | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1055+15059T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181666500 | ||||||
| chr1:181666721
|
T | TAC | 32 | a0001c0001t0004g0146a0001c0012t0038g0002a0003c0003t0001g0009others(29): Show | 32 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.1055+15293_1055+15 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181666721 | |||||
| chr1:181666735
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+15294C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181666735 | ||||||
| chr1:181666818
|
A | G | 178 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(175): Show | 178 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(175): Show |
intron_variant | MODIFIER | c.1055+15377A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181666818 | ||||||
| chr1:181667084
|
A | C | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1055+15643A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667084 | ||||||
| chr1:181667313
|
C | T | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1055+15872C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667313 | ||||||
| chr1:181667411
|
T | C | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1055+15970T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667411 | ||||||
| chr1:181667462
|
A | G | 75 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(72): Show | 75 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.1055+16021A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667462 | ||||||
| chr1:181667639
|
T | C | 1 | a0001c0001t0025g0057 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1055+16198T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667639 | ||||||
| chr1:181667710
|
A | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1055+16269A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181667710 | ||||||
| chr1:181668112
|
A | G | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1055+16671A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668112 | ||||||
| chr1:181668241
|
A | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1055+16800A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668241 | ||||||
| chr1:181668367
|
C | G | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1055+16926C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668367 | ||||||
| chr1:181668371
|
G | A | 1 | a0005c0027t0027g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1055+16930G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668371 | ||||||
| chr1:181668452
|
A | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+17011A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668452 | ||||||
| chr1:181668605
|
T | C | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1055+17164T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668605 | ||||||
| chr1:181668606
|
T | G | 15 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0005t0018g0061others(12): Show | 15 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.1055+17165T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668606 | ||||||
| chr1:181668835
|
G | C | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1055+17394G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668835 | ||||||
| chr1:181668944
|
C | T | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1055+17503C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181668944 | ||||||
| chr1:181669006
|
C | A | 1 | a0003c0003t0072g0066 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1055+17565C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181669006 | ||||||
| chr1:181669298
|
G | A | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1055+17857G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181669298 | ||||||
| chr1:181669375
|
C | T | 31 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(28): Show | 31 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.1055+17934C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181669375 | ||||||
| chr1:181669425
|
G | C | 3 | a0001c0001t0024g0112a0002c0002t0034g0080a0003c0003t0010g0127 | 3 | HG01109.hp1 HG02451.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1055+17984G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181669425 | ||||||
| chr1:181669567
|
G | A | 1 | a0001c0011t0004g0206 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1055+18126G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181669567 | ||||||
| chr1:181670053
|
A | T | 1 | a0003c0010t0002g0113 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1055+18612A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670053 | ||||||
| chr1:181670058
|
T | G | 1 | a0002c0002t0001g0023 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1055+18617T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670058 | ||||||
| chr1:181670228
|
C | T | 1 | a0001c0001t0006g0151 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1055+18787C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670228 | ||||||
| chr1:181670513
|
G | A | 6 | a0001c0005t0032g0029a0001c0005t0032g0099a0001c0008t0008g0030others(3): Show | 6 | HG01074.hp1 HG01884.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1055+19072G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670513 | ||||||
| chr1:181670592
|
G | A | 1 | a0001c0001t0039g0093 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1055+19151G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670592 | ||||||
| chr1:181670703
|
G | A | 24 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0011g0038others(21): Show | 24 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.1055+19262G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670703 | ||||||
| chr1:181670851
|
G | C | 1 | a0001c0006t0075g0064 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1055+19410G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181670851 | ||||||
| chr1:181671059
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1055+19618G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671059 | ||||||
| chr1:181671318
|
G | A | 1 | a0003c0003t0001g0200 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1055+19877G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671318 | ||||||
| chr1:181671502
|
C | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055+20061C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671502 | ||||||
| chr1:181671773
|
A | T | 39 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(36): Show | 39 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1055+20332A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671773 | ||||||
| chr1:181671785
|
C | A | 31 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(28): Show | 31 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.1055+20344C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671785 | ||||||
| chr1:181671802
|
A | G | 40 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(37): Show | 40 | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.1055+20361A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671802 | ||||||
| chr1:181671881
|
C | T | 1 | a0001c0001t0019g0052 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1055+20440C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671881 | ||||||
| chr1:181671986
|
A | C | 1 | a0003c0003t0003g0103 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1055+20545A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181671986 | ||||||
| chr1:181672308
|
G | T | 1 | a0002c0002t0053g0104 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1055+20867G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181672308 | ||||||
| chr1:181672564
|
T | G | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1055+21123T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181672564 | ||||||
| chr1:181672576
|
A | G | 2 | a0002c0002t0021g0010a0002c0002t0021g0115 | 2 | HG00639.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1055+21135A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181672576 | ||||||
| chr1:181672769
|
T | A | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1055+21328T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181672769 | ||||||
| chr1:181672961
|
C | T | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1055+21520C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181672961 | ||||||
| chr1:181673222
|
ATG | A | 99 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(96): Show | 99 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.1055+21801_1055+21 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181673222 | |||||
| chr1:181673222
|
ATGTGTGT others(1): Show |
A | 54 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.1055+21795_1055+21 others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181673222 | |||||
| chr1:181673361
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1055+21920T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181673361 | ||||||
| chr1:181673815
|
G | A | 3 | a0001c0001t0065g0173a0001c0004t0010g0067a0001c0004t0036g0062 | 3 | HG02280.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1055+22374G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181673815 | ||||||
| chr1:181673855
|
T | C | 1 | a0003c0003t0003g0103 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1055+22414T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181673855 | ||||||
| chr1:181673887
|
C | T | 7 | a0001c0001t0004g0058a0001c0001t0011g0038a0001c0001t0025g0057others(4): Show | 7 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.1055+22446C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181673887 | ||||||
| chr1:181674174
|
T | G | 1 | a0001c0001t0076g0087 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1055+22733T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674174 | ||||||
| chr1:181674223
|
C | CA | 17 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0004g0078others(14): Show | 17 | HG00597.hp1 HG01074.hp2 HG01169.hp2 others(14): Show |
intron_variant | MODIFIER | c.1055+22802dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181674223 | |||||
| chr1:181674223
|
CA | C | 69 | a0001c0001t0002g0126a0001c0001t0004g0058a0001c0001t0004g0146others(66): Show | 69 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(66): Show |
intron_variant | MODIFIER | c.1055+22802delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181674223 | |||||
| chr1:181674329
|
C | T | 4 | a0001c0001t0001g0166a0001c0001t0003g0130a0001c0001t0006g0123others(1): Show | 4 | HG00280.hp2 HG00597.hp1 HG00609.hp2 others(1): Show |
intron_variant | MODIFIER | c.1055+22888C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674329 | ||||||
| chr1:181674394
|
C | CA | 7 | a0001c0001t0004g0078a0001c0001t0005g0015a0001c0001t0014g0142others(4): Show | 7 | HG01175.hp1 HG01175.hp2 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.1055+22979dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181674394 | |||||
| chr1:181674394
|
CA | C | 129 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0130others(126): Show | 129 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.1055+22979delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181674394 | |||||
| chr1:181674394
|
CAA | C | 9 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0012g0100others(6): Show | 9 | HG01074.hp2 HG02886.hp1 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.1055+22978_1055+22 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181674394 | |||||
| chr1:181674575
|
T | C | 92 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0003g0044others(89): Show | 92 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.1055+23134T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674575 | ||||||
| chr1:181674638
|
C | T | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1055+23197C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674638 | ||||||
| chr1:181674745
|
T | C | 1 | a0001c0001t0003g0044 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1055+23304T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674745 | ||||||
| chr1:181674792
|
C | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+23351C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674792 | ||||||
| chr1:181674932
|
C | T | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0001t0063g0026others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1055+23491C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181674932 | ||||||
| chr1:181675002
|
TA | T | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0001t0063g0026others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.1055+23564delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181675002 | |||||
| chr1:181675020
|
A | G | 2 | a0001c0001t0004g0058a0001c0001t0025g0057 | 2 | NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1055+23579A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675020 | ||||||
| chr1:181675037
|
T | G | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1055+23596T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675037 | ||||||
| chr1:181675175
|
C | T | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1055+23734C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675175 | ||||||
| chr1:181675309
|
C | T | 91 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0003g0044others(88): Show | 91 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.1055+23868C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675309 | ||||||
| chr1:181675361
|
G | A | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1055+23920G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675361 | ||||||
| chr1:181675481
|
G | A | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1055+24040G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675481 | ||||||
| chr1:181675712
|
G | T | 2 | a0001c0001t0006g0050a0001c0001t0006g0075 | 2 | NA18942.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.1055+24271G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675712 | ||||||
| chr1:181675827
|
G | A | 2 | a0002c0002t0001g0023a0002c0002t0027g0036 | 2 | HG00280.hp1 HG01243.hp1 |
intron_variant | MODIFIER | c.1055+24386G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675827 | ||||||
| chr1:181675938
|
C | T | 22 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(19): Show | 22 | HG01069.hp2 HG01074.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.1055+24497C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675938 | ||||||
| chr1:181675940
|
T | C | 32 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(29): Show | 32 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.1055+24499T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675940 | ||||||
| chr1:181675954
|
C | T | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1055+24513C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675954 | ||||||
| chr1:181675968
|
G | A | 1 | a0004c0007t0046g0007 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1055+24527G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675968 | ||||||
| chr1:181675993
|
T | C | 75 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0058others(72): Show | 75 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.1055+24552T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181675993 | ||||||
| chr1:181676001
|
A | G | 3 | a0001c0005t0032g0029a0001c0005t0032g0099a0001c0009t0078g0040 | 3 | HG02258.hp2 HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1055+24560A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676001 | ||||||
| chr1:181676091
|
G | A | 107 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0058others(104): Show | 107 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.1055+24650G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676091 | ||||||
| chr1:181676140
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1055+24699G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676140 | ||||||
| chr1:181676261
|
A | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+24820A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676261 | ||||||
| chr1:181676373
|
A | G | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1055+24932A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676373 | ||||||
| chr1:181676508
|
C | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1055+25067C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676508 | ||||||
| chr1:181676515
|
G | C | 21 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(18): Show | 21 | HG01069.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.1055+25074G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181676515 | ||||||
| chr1:181677064
|
C | T | 2 | a0003c0010t0002g0035a0003c0010t0002g0113 | 2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1055+25623C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677064 | ||||||
| chr1:181677347
|
C | T | 21 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0004g0058others(18): Show | 21 | HG01069.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.1055+25906C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677347 | ||||||
| chr1:181677714
|
T | C | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1055+26273T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677714 | ||||||
| chr1:181677845
|
A | G | 3 | a0002c0002t0014g0125a0002c0002t0028g0021a0002c0002t0028g0097 | 3 | HG02015.hp2 NA18977.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1055+26404A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677845 | ||||||
| chr1:181677898
|
C | G | 83 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0003g0044others(80): Show | 83 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(80): Show |
intron_variant | MODIFIER | c.1055+26457C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677898 | ||||||
| chr1:181677969
|
C | T | 1 | a0001c0026t0042g0025 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1055+26528C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181677969 | ||||||
| chr1:181678025
|
A | T | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1055+26584A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678025 | ||||||
| chr1:181678524
|
T | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.1055+27083T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678524 | ||||||
| chr1:181678673
|
T | C | 4 | a0001c0001t0006g0131a0002c0002t0002g0138a0002c0002t0002g0139others(1): Show | 4 | HG01934.hp1 HG02273.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.1055+27232T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678673 | ||||||
| chr1:181678726
|
CTG | C | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1055+27289_1055+27 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181678726 | |||||
| chr1:181678870
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1055+27429G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678870 | ||||||
| chr1:181678915
|
C | A | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1055+27474C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678915 | ||||||
| chr1:181678984
|
A | G | 1 | a0002c0002t0007g0094 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1055+27543A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181678984 | ||||||
| chr1:181679032
|
T | C | 33 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(30): Show | 33 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1055+27591T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679032 | ||||||
| chr1:181679055
|
C | A | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1055+27614C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679055 | ||||||
| chr1:181679055
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+27614C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679055 | ||||||
| chr1:181679075
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1055+27634G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679075 | ||||||
| chr1:181679149
|
C | T | 1 | a0002c0002t0003g0157 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1055+27708C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679149 | ||||||
| chr1:181679343
|
T | C | 21 | a0001c0001t0004g0146a0003c0003t0001g0012a0003c0003t0001g0076others(18): Show | 21 | HG00609.hp1 HG00673.hp1 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1055+27902T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679343 | ||||||
| chr1:181679406
|
C | T | 6 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(3): Show | 6 | HG02738.hp2 HG02976.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.1055+27965C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679406 | ||||||
| chr1:181679471
|
A | G | 154 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0003g0044others(151): Show | 154 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(151): Show |
intron_variant | MODIFIER | c.1055+28030A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679471 | ||||||
| chr1:181679826
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+28385C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679826 | ||||||
| chr1:181679888
|
C | G | 6 | a0001c0001t0004g0058a0001c0001t0011g0038a0001c0001t0025g0057others(3): Show | 6 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.1055+28447C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679888 | ||||||
| chr1:181679982
|
G | A | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1055+28541G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181679982 | ||||||
| chr1:181680105
|
CA | C | 21 | a0001c0001t0002g0126a0001c0001t0011g0068a0001c0001t0011g0092others(18): Show | 21 | HG00639.hp1 HG00735.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.1055+28693delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680105
|
CAAA | C | 15 | a0001c0001t0002g0195a0001c0001t0009g0132a0001c0001t0011g0038others(12): Show | 15 | HG00438.hp2 HG01069.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.1055+28691_1055+28 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680105
|
CAAAA | C | 58 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(55): Show | 58 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(55): Show |
intron_variant | MODIFIER | c.1055+28690_1055+28 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680105
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1055+28684_1055+28 others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680105
|
CAAAAAAA others(4): Show |
C | 75 | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(72): Show | 75 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(72): Show |
intron_variant | MODIFIER | c.1055+28683_1055+28 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680105
|
CAAAAAAA others(5): Show |
C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1055+28682_1055+28 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181680105 | |||||
| chr1:181680267
|
G | A | 1 | a0002c0029t0001g0153 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1055+28826G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680267 | ||||||
| chr1:181680319
|
A | G | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1055+28878A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680319 | ||||||
| chr1:181680414
|
T | C | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG03471.hp1 HG03516.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1055+28973T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680414 | ||||||
| chr1:181680502
|
A | G | 1 | a0001c0001t0063g0026 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1055+29061A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680502 | ||||||
| chr1:181680757
|
G | A | 33 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0012others(30): Show | 33 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1055+29316G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680757 | ||||||
| chr1:181680786
|
C | T | 24 | a0001c0001t0004g0058a0001c0001t0016g0181a0001c0001t0025g0057others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.1055+29345C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680786 | ||||||
| chr1:181680937
|
T | C | 27 | a0001c0001t0004g0058a0001c0001t0016g0181a0001c0001t0025g0057others(24): Show | 27 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.1055+29496T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680937 | ||||||
| chr1:181680978
|
G | A | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1055+29537G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181680978 | ||||||
| chr1:181681042
|
C | T | 1 | a0001c0001t0016g0133 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1055+29601C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681042 | ||||||
| chr1:181681064
|
C | T | 1 | a0001c0001t0043g0077 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1055+29623C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681064 | ||||||
| chr1:181681065
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1055+29624G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681065 | ||||||
| chr1:181681169
|
C | T | 1 | a0002c0002t0003g0202 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1055+29728C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681169 | ||||||
| chr1:181681208
|
C | G | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1056-29746C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681208 | ||||||
| chr1:181681293
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-29661G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681293 | ||||||
| chr1:181681609
|
TA | T | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-29340delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181681609 | |||||
| chr1:181681690
|
A | G | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1056-29264A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681690 | ||||||
| chr1:181681701
|
C | T | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1056-29253C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681701 | ||||||
| chr1:181681791
|
A | G | 1 | a0002c0002t0049g0169 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1056-29163A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681791 | ||||||
| chr1:181681830
|
G | A | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1056-29124G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681830 | ||||||
| chr1:181681896
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-29058G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681896 | ||||||
| chr1:181681975
|
C | A | 1 | a0001c0004t0045g0047 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1056-28979C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181681975 | ||||||
| chr1:181682014
|
TGGCAATG others(3961): Show |
T | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1056-28936_1056-24 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181682014 | |||||
| chr1:181682523
|
C | T | 1 | a0002c0002t0002g0138 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1056-28431C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682523 | ||||||
| chr1:181682575
|
C | T | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-28379C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682575 | ||||||
| chr1:181682628
|
G | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-28326G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682628 | ||||||
| chr1:181682652
|
G | A | 1 | a0002c0002t0002g0138 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1056-28302G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682652 | ||||||
| chr1:181682731
|
A | C | 4 | a0001c0001t0074g0109a0001c0015t0047g0027a0001c0026t0042g0025others(1): Show | 4 | HG01099.hp1 HG02559.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1056-28223A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682731 | ||||||
| chr1:181682756
|
G | A | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-28198G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682756 | ||||||
| chr1:181682829
|
C | T | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1056-28125C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181682829 | ||||||
| chr1:181683055
|
C | T | 1 | a0001c0001t0005g0015 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1056-27899C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683055 | ||||||
| chr1:181683082
|
A | G | 5 | a0001c0004t0010g0067a0001c0004t0036g0062a0001c0009t0078g0040others(2): Show | 5 | HG02258.hp2 HG02280.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-27872A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683082 | ||||||
| chr1:181683220
|
A | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-27734A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683220 | ||||||
| chr1:181683468
|
C | T | 54 | a0001c0001t0002g0195a0001c0001t0004g0146a0001c0001t0024g0112others(51): Show | 54 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.1056-27486C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683468 | ||||||
| chr1:181683560
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1056-27394T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683560 | ||||||
| chr1:181683975
|
T | C | 61 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(58): Show | 61 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.1056-26979T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181683975 | ||||||
| chr1:181684113
|
G | A | 1 | a0001c0001t0039g0093 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1056-26841G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684113 | ||||||
| chr1:181684118
|
C | T | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1056-26836C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684118 | ||||||
| chr1:181684339
|
C | T | 6 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(3): Show | 6 | HG02738.hp2 HG02976.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.1056-26615C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684339 | ||||||
| chr1:181684341
|
C | T | 4 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0006t0025g0111others(1): Show | 4 | HG02257.hp2 HG02922.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1056-26613C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684341 | ||||||
| chr1:181684452
|
C | A | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1056-26502C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684452 | ||||||
| chr1:181684645
|
G | T | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1056-26309G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684645 | ||||||
| chr1:181684719
|
G | A | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-26235G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181684719 | ||||||
| chr1:181684876
|
C | CT | 107 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(104): Show | 107 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.1056-26063dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181684876 | |||||
| chr1:181684876
|
C | CTT | 5 | a0001c0005t0030g0150a0002c0002t0003g0084a0002c0002t0044g0053others(2): Show | 5 | HG02615.hp1 HG03098.hp1 NA18964.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-26064_1056-26 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181684876 | |||||
| chr1:181685104
|
A | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-25850A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685104 | ||||||
| chr1:181685154
|
C | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-25800C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685154 | ||||||
| chr1:181685179
|
A | AT | 5 | a0001c0001t0013g0187a0001c0001t0058g0204a0001c0001t0076g0087others(2): Show | 5 | HG02040.hp2 HG02738.hp2 HG04115.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-25758dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685179 | |||||
| chr1:181685179
|
A | ATT | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.1056-25759_1056-25 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685179 | |||||
| chr1:181685179
|
AT | A | 109 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(106): Show | 109 | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.1056-25758delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685179 | |||||
| chr1:181685209
|
T | C | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1056-25745T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685209 | ||||||
| chr1:181685230
|
G | GT | 93 | a0001c0001t0002g0001a0001c0001t0003g0044a0001c0001t0004g0146others(90): Show | 93 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.1056-25705dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685230 | |||||
| chr1:181685230
|
G | GTT | 6 | a0002c0002t0003g0161a0003c0010t0002g0113a0004c0007t0001g0016others(3): Show | 6 | HG00735.hp2 HG01071.hp1 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-25706_1056-25 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685230 | |||||
| chr1:181685230
|
GT | G | 25 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0006g0042others(22): Show | 25 | HG01069.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.1056-25705delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685230 | |||||
| chr1:181685230
|
GTTTTTT | G | 22 | a0001c0001t0016g0181a0001c0001t0063g0026a0001c0001t0070g0037others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.1056-25710_1056-25 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181685230 | |||||
| chr1:181685236
|
T | TG | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1056-25718_1056-25 others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685236 | ||||||
| chr1:181685263
|
G | A | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1056-25691G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685263 | ||||||
| chr1:181685375
|
G | T | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-25579G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685375 | ||||||
| chr1:181685719
|
A | G | 7 | a0003c0003t0005g0083a0003c0003t0005g0152a0003c0003t0005g0170others(4): Show | 7 | HG00609.hp1 NA18972.hp1 NA18983.hp1 others(4): Show |
intron_variant | MODIFIER | c.1056-25235A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685719 | ||||||
| chr1:181685738
|
A | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1056-25216A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181685738 | ||||||
| chr1:181686275
|
G | GT | 13 | a0001c0001t0003g0130a0001c0001t0003g0134a0001c0001t0004g0078others(10): Show | 13 | HG00323.hp2 HG00639.hp1 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.1056-24651dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686275
|
G | GTTTTTTT others(5): Show |
2 | a0001c0004t0008g0032a0001c0022t0056g0176 | 2 | HG03471.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.1056-24662_1056-24 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686275
|
G | GTTTTTTT others(6): Show |
1 | a0001c0004t0008g0122 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1056-24663_1056-24 others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686275
|
GT | G | 22 | a0001c0001t0005g0172a0001c0001t0009g0085a0001c0001t0024g0112others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-24651delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686275
|
GTT | G | 94 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(91): Show | 94 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1056-24652_1056-24 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686275
|
GTTTTTTT others(6): Show |
G | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-24663_1056-24 others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686275 | |||||
| chr1:181686283
|
T | TTTTTTTT others(6): Show |
1 | a0001c0004t0054g0018 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1056-24663_1056-24 others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686283 | |||||
| chr1:181686283
|
T | TTTTTTTT others(5): Show |
14 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0002g0101others(11): Show | 14 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.1056-24660_1056-24 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686283 | |||||
| chr1:181686283
|
T | TTTTTTTT others(6): Show |
2 | a0001c0004t0001g0186a0001c0004t0031g0095 | 2 | HG01978.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.1056-24659_1056-24 others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686283 | |||||
| chr1:181686284
|
T | TTTTTTTT others(4): Show |
1 | a0001c0020t0031g0074 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1056-24660_1056-24 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181686284 | |||||
| chr1:181686435
|
C | T | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1056-24519C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686435 | ||||||
| chr1:181686436
|
G | A | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1056-24518G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686436 | ||||||
| chr1:181686515
|
G | A | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1056-24439G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686515 | ||||||
| chr1:181686541
|
C | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1056-24413C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686541 | ||||||
| chr1:181686578
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1056-24376C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686578 | ||||||
| chr1:181686616
|
C | A | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-24338C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686616 | ||||||
| chr1:181686616
|
C | T | 160 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(157): Show | 160 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.1056-24338C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181686616 | ||||||
| chr1:181687139
|
C | A | 5 | a0001c0004t0010g0067a0001c0004t0036g0062a0001c0009t0078g0040others(2): Show | 5 | HG02258.hp2 HG02280.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-23815C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687139 | ||||||
| chr1:181687151
|
C | T | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-23803C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687151 | ||||||
| chr1:181687466
|
C | T | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-23488C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687466 | ||||||
| chr1:181687489
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-23465G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687489 | ||||||
| chr1:181687615
|
G | A | 3 | a0001c0005t0026g0031a0001c0005t0071g0110a0001c0009t0018g0041 | 3 | HG02257.hp2 HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1056-23339G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687615 | ||||||
| chr1:181687722
|
T | A | 1 | a0001c0001t0009g0085 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1056-23232T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687722 | ||||||
| chr1:181687756
|
A | G | 1 | a0001c0004t0008g0032 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1056-23198A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687756 | ||||||
| chr1:181687976
|
C | T | 8 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0024g0003others(5): Show | 8 | HG00735.hp2 HG01891.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1056-22978C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181687976 | ||||||
| chr1:181688345
|
A | T | 146 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(143): Show | 146 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.1056-22609A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688345 | ||||||
| chr1:181688353
|
T | C | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-22601T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688353 | ||||||
| chr1:181688476
|
G | A | 2 | a0001c0001t0004g0058a0001c0001t0025g0057 | 2 | NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-22478G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688476 | ||||||
| chr1:181688588
|
A | G | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1056-22366A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688588 | ||||||
| chr1:181688707
|
A | G | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-22247A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688707 | ||||||
| chr1:181688766
|
A | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-22188A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688766 | ||||||
| chr1:181688867
|
CT | C | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1056-22081delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181688867 | |||||
| chr1:181688946
|
C | T | 1 | a0002c0002t0007g0069 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1056-22008C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181688946 | ||||||
| chr1:181688991
|
TTTTAAC | T | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-21957_1056-21 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181688991 | |||||
| chr1:181689013
|
A | G | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1056-21941A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689013 | ||||||
| chr1:181689073
|
G | A | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1056-21881G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689073 | ||||||
| chr1:181689156
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-21798G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689156 | ||||||
| chr1:181689279
|
G | C | 19 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(16): Show | 19 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(16): Show |
intron_variant | MODIFIER | c.1056-21675G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689279 | ||||||
| chr1:181689286
|
C | A | 7 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0024g0003others(4): Show | 7 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.1056-21668C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689286 | ||||||
| chr1:181689322
|
T | G | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1056-21632T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689322 | ||||||
| chr1:181689339
|
C | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-21615C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689339 | ||||||
| chr1:181689485
|
G | A | 14 | a0001c0001t0065g0173a0001c0001t0066g0070a0001c0004t0010g0067others(11): Show | 14 | HG02257.hp2 HG02258.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1056-21469G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689485 | ||||||
| chr1:181689988
|
C | T | 1 | a0001c0001t0011g0092 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1056-20966C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181689988 | ||||||
| chr1:181690036
|
G | A | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-20918G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690036 | ||||||
| chr1:181690077
|
C | T | 146 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(143): Show | 146 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.1056-20877C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690077 | ||||||
| chr1:181690093
|
G | A | 4 | a0004c0007t0001g0016a0004c0007t0001g0171a0004c0007t0023g0011others(1): Show | 4 | HG01071.hp1 HG01258.hp2 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.1056-20861G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690093 | ||||||
| chr1:181690315
|
G | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-20639G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690315 | ||||||
| chr1:181690453
|
A | G | 59 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(56): Show | 59 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(56): Show |
intron_variant | MODIFIER | c.1056-20501A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690453 | ||||||
| chr1:181690610
|
A | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-20344A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690610 | ||||||
| chr1:181690932
|
T | C | 1 | a0001c0001t0058g0204 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1056-20022T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181690932 | ||||||
| chr1:181691087
|
C | T | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1056-19867C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691087 | ||||||
| chr1:181691218
|
ATTTAG | A | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-19733_1056-19 others(11): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181691218 | |||||
| chr1:181691240
|
A | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-19714A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691240 | ||||||
| chr1:181691352
|
G | T | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1056-19602G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691352 | ||||||
| chr1:181691405
|
A | G | 1 | a0003c0003t0061g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1056-19549A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691405 | ||||||
| chr1:181691589
|
A | T | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1056-19365A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691589 | ||||||
| chr1:181691708
|
C | T | 2 | a0001c0001t0019g0034a0001c0001t0019g0052 | 2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1056-19246C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691708 | ||||||
| chr1:181691770
|
G | T | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1056-19184G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691770 | ||||||
| chr1:181691771
|
C | T | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1056-19183C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691771 | ||||||
| chr1:181691801
|
A | G | 1 | a0001c0006t0002g0205 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1056-19153A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691801 | ||||||
| chr1:181691986
|
C | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-18968C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181691986 | ||||||
| chr1:181692037
|
C | A | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1056-18917C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692037 | ||||||
| chr1:181692044
|
A | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-18910A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692044 | ||||||
| chr1:181692058
|
C | A | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-18896C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692058 | ||||||
| chr1:181692090
|
C | G | 170 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(167): Show | 170 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(167): Show |
intron_variant | MODIFIER | c.1056-18864C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692090 | ||||||
| chr1:181692143
|
A | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-18811A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692143 | ||||||
| chr1:181692170
|
A | T | 1 | a0001c0001t0006g0075 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1056-18784A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692170 | ||||||
| chr1:181692315
|
A | T | 1 | a0001c0004t0045g0047 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1056-18639A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692315 | ||||||
| chr1:181692336
|
A | G | 2 | a0001c0001t0003g0134a0001c0001t0006g0183 | 2 | HG02132.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.1056-18618A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692336 | ||||||
| chr1:181692487
|
G | C | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1056-18467G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692487 | ||||||
| chr1:181692683
|
A | T | 2 | a0003c0010t0002g0035a0003c0010t0002g0113 | 2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1056-18271A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692683 | ||||||
| chr1:181692701
|
A | G | 47 | a0001c0001t0004g0058a0001c0001t0011g0038a0001c0001t0016g0181others(44): Show | 47 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(44): Show |
intron_variant | MODIFIER | c.1056-18253A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692701 | ||||||
| chr1:181692758
|
C | A | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1056-18196C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692758 | ||||||
| chr1:181692905
|
A | G | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1056-18049A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692905 | ||||||
| chr1:181692917
|
C | T | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1056-18037C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181692917 | ||||||
| chr1:181693023
|
C | T | 1 | a0001c0001t0006g0189 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1056-17931C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693023 | ||||||
| chr1:181693073
|
G | A | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-17881G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693073 | ||||||
| chr1:181693128
|
C | CA | 8 | a0001c0001t0004g0078a0001c0001t0006g0050a0001c0001t0006g0183others(5): Show | 8 | HG01175.hp1 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1056-17804dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181693128 | |||||
| chr1:181693128
|
CA | C | 31 | a0001c0001t0002g0001a0001c0001t0004g0058a0001c0001t0007g0136others(28): Show | 31 | HG00280.hp1 HG01074.hp1 HG01074.hp2 others(28): Show |
intron_variant | MODIFIER | c.1056-17804delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181693128 | |||||
| chr1:181693128
|
CAA | C | 55 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0005g0015others(52): Show | 55 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.1056-17805_1056-17 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181693128 | |||||
| chr1:181693128
|
CAAA | C | 23 | a0001c0001t0011g0038a0001c0001t0016g0181a0001c0001t0033g0088others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-17806_1056-17 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181693128 | |||||
| chr1:181693149
|
A | C | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-17805A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693149 | ||||||
| chr1:181693149
|
AAC | A | 25 | a0001c0001t0004g0146a0003c0003t0001g0009a0003c0003t0001g0076others(22): Show | 25 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.1056-17803_1056-17 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181693149 | |||||
| chr1:181693150
|
AC | A | 7 | a0003c0003t0001g0012a0003c0003t0001g0033a0003c0010t0002g0113others(4): Show | 7 | HG01071.hp1 HG01258.hp2 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.1056-17803delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693150 | ||||||
| chr1:181693209
|
T | C | 1 | a0004c0007t0046g0007 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1056-17745T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693209 | ||||||
| chr1:181693609
|
C | T | 1 | a0001c0004t0008g0122 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1056-17345C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693609 | ||||||
| chr1:181693643
|
T | G | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-17311T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693643 | ||||||
| chr1:181693691
|
A | G | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1056-17263A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693691 | ||||||
| chr1:181693708
|
G | C | 162 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(159): Show | 162 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.1056-17246G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693708 | ||||||
| chr1:181693764
|
T | C | 2 | a0002c0002t0002g0139a0002c0002t0002g0140 | 2 | HG01934.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.1056-17190T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181693764 | ||||||
| chr1:181694149
|
T | C | 1 | a0001c0001t0009g0085 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1056-16805T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694149 | ||||||
| chr1:181694232
|
A | G | 1 | a0001c0001t0002g0126 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1056-16722A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694232 | ||||||
| chr1:181694262
|
G | A | 42 | a0001c0001t0002g0195a0001c0001t0004g0146a0001c0001t0024g0112others(39): Show | 42 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.1056-16692G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694262 | ||||||
| chr1:181694367
|
C | G | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1056-16587C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694367 | ||||||
| chr1:181694502
|
T | A | 59 | a0001c0001t0003g0044a0001c0001t0005g0015a0001c0001t0005g0086others(56): Show | 59 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(56): Show |
intron_variant | MODIFIER | c.1056-16452T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694502 | ||||||
| chr1:181694554
|
C | T | 3 | a0001c0005t0024g0003a0001c0009t0040g0141a0008c0028t0068g0055 | 3 | HG02280.hp2 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1056-16400C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694554 | ||||||
| chr1:181694637
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1056-16317T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181694637 | ||||||
| chr1:181695152
|
A | T | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-15802A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181695152 | ||||||
| chr1:181695535
|
C | T | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-15419C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181695535 | ||||||
| chr1:181695564
|
G | A | 4 | a0003c0003t0005g0083a0003c0003t0005g0152a0003c0003t0005g0170others(1): Show | 4 | NA18972.hp1 NA18983.hp1 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.1056-15390G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181695564 | ||||||
| chr1:181695664
|
A | T | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-15290A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181695664 | ||||||
| chr1:181696033
|
G | A | 123 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(120): Show | 123 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.1056-14921G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181696033 | ||||||
| chr1:181696206
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-14748G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181696206 | ||||||
| chr1:181696217
|
CT | C | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-14724delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181696217 | |||||
| chr1:181696309
|
G | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-14645G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181696309 | ||||||
| chr1:181696655
|
G | A | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-14299G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181696655 | ||||||
| chr1:181696980
|
A | G | 6 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(3): Show | 6 | HG02738.hp2 HG02976.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.1056-13974A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181696980 | ||||||
| chr1:181697040
|
G | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-13914G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181697040 | ||||||
| chr1:181697261
|
G | A | 1 | a0003c0003t0005g0180 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1056-13693G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181697261 | ||||||
| chr1:181697313
|
T | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1056-13641T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181697313 | ||||||
| chr1:181697809
|
G | A | 32 | a0003c0003t0001g0009a0003c0003t0001g0012a0003c0003t0001g0033others(29): Show | 32 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.1056-13145G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181697809 | ||||||
| chr1:181697929
|
T | C | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1056-13025T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181697929 | ||||||
| chr1:181698106
|
T | C | 13 | a0001c0001t0004g0146a0001c0001t0005g0015a0001c0001t0005g0086others(10): Show | 13 | HG00408.hp1 HG00597.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1056-12848T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181698106 | ||||||
| chr1:181698147
|
A | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-12807A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181698147 | ||||||
| chr1:181698547
|
T | G | 7 | a0001c0001t0002g0195a0002c0002t0020g0129a0002c0002t0026g0175others(4): Show | 7 | HG01069.hp2 HG01243.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1056-12407T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181698547 | ||||||
| chr1:181698577
|
G | A | 4 | a0003c0003t0001g0119a0003c0003t0001g0120a0003c0003t0001g0200others(1): Show | 4 | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.1056-12377G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181698577 | ||||||
| chr1:181698904
|
A | G | 5 | a0001c0004t0010g0067a0001c0004t0036g0062a0001c0009t0078g0040others(2): Show | 5 | HG02258.hp2 HG02280.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-12050A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181698904 | ||||||
| chr1:181699029
|
G | A | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1056-11925G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181699029 | ||||||
| chr1:181699184
|
A | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-11770A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181699184 | ||||||
| chr1:181699437
|
C | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1056-11517C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181699437 | ||||||
| chr1:181700061
|
C | T | 3 | a0001c0001t0066g0070a0001c0005t0032g0029a0001c0005t0032g0099 | 3 | HG02723.hp1 HG02965.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1056-10893C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700061 | ||||||
| chr1:181700281
|
C | G | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-10673C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700281 | ||||||
| chr1:181700540
|
T | C | 1 | a0002c0002t0021g0010 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1056-10414T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700540 | ||||||
| chr1:181700658
|
T | C | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-10296T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700658 | ||||||
| chr1:181700850
|
C | T | 55 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0015others(52): Show | 55 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.1056-10104C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700850 | ||||||
| chr1:181700870
|
C | T | 2 | a0001c0024t0067g0004a0002c0002t0050g0197 | 2 | HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1056-10084C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700870 | ||||||
| chr1:181700888
|
C | T | 1 | a0001c0022t0056g0176 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1056-10066C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700888 | ||||||
| chr1:181700906
|
C | G | 147 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(144): Show | 147 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.1056-10048C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181700906 | ||||||
| chr1:181701038
|
C | A | 21 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.1056-9916C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701038 | ||||||
| chr1:181701111
|
T | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-9843T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701111 | ||||||
| chr1:181701147
|
A | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1056-9807A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701147 | ||||||
| chr1:181701148
|
A | G | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-9806A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701148 | ||||||
| chr1:181701233
|
C | T | 1 | a0002c0002t0003g0202 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1056-9721C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701233 | ||||||
| chr1:181701303
|
A | C | 12 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0004g0137others(9): Show | 12 | HG01123.hp2 HG01192.hp2 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.1056-9651A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701303 | ||||||
| chr1:181701490
|
C | G | 1 | a0002c0002t0015g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1056-9464C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701490 | ||||||
| chr1:181701796
|
G | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1056-9158G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181701796 | ||||||
| chr1:181702018
|
C | T | 23 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(20): Show | 23 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.1056-8936C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181702018 | ||||||
| chr1:181702407
|
C | A | 60 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0015others(57): Show | 60 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(57): Show |
intron_variant | MODIFIER | c.1056-8547C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181702407 | ||||||
| chr1:181702510
|
G | C | 147 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0058others(144): Show | 147 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.1056-8444G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181702510 | ||||||
| chr1:181702923
|
T | A | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1056-8031T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181702923 | ||||||
| chr1:181703040
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1056-7914C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703040 | ||||||
| chr1:181703176
|
G | A | 41 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(38): Show | 41 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.1056-7778G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703176 | ||||||
| chr1:181703267
|
G | A | 101 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(98): Show | 101 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.1056-7687G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703267 | ||||||
| chr1:181703546
|
T | G | 102 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(99): Show | 102 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(99): Show |
intron_variant | MODIFIER | c.1056-7408T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703546 | ||||||
| chr1:181703567
|
G | A | 2 | a0001c0001t0024g0112a0002c0002t0034g0080 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1056-7387G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703567 | ||||||
| chr1:181703570
|
T | A | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1056-7384T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181703570 | ||||||
| chr1:181703854
|
C | CCTGGTCT others(70): Show |
2 | a0001c0006t0004g0019a0001c0006t0004g0102 | 2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1056-7025_1056-702 others(81): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181703854 | |||||
| chr1:181704182
|
C | T | 147 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(144): Show | 147 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.1056-6772C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704182 | ||||||
| chr1:181704216
|
G | T | 147 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(144): Show | 147 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.1056-6738G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704216 | ||||||
| chr1:181704494
|
C | A | 1 | a0003c0003t0001g0106 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1056-6460C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704494 | ||||||
| chr1:181704569
|
G | A | 2 | a0001c0024t0067g0004a0002c0002t0050g0197 | 2 | HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1056-6385G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704569 | ||||||
| chr1:181704602
|
C | T | 1 | a0001c0001t0058g0204 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1056-6352C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704602 | ||||||
| chr1:181704699
|
A | G | 1 | a0003c0003t0004g0124 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1056-6255A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704699 | ||||||
| chr1:181704801
|
G | A | 1 | a0001c0001t0017g0045 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1056-6153G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704801 | ||||||
| chr1:181704850
|
C | A | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1056-6104C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181704850 | ||||||
| chr1:181705007
|
TAATCCCC others(1): Show |
T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-5945_1056-593 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181705007 | |||||
| chr1:181705120
|
G | A | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1056-5834G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705120 | ||||||
| chr1:181705308
|
A | G | 1 | a0001c0001t0002g0126 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1056-5646A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705308 | ||||||
| chr1:181705659
|
C | T | 11 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(8): Show | 11 | HG00408.hp2 HG00438.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.1056-5295C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705659 | ||||||
| chr1:181705700
|
G | A | 1 | a0002c0002t0002g0191 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1056-5254G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705700 | ||||||
| chr1:181705739
|
C | G | 1 | a0001c0022t0056g0176 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1056-5215C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705739 | ||||||
| chr1:181705755
|
G | T | 123 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(120): Show | 123 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.1056-5199G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705755 | ||||||
| chr1:181705799
|
A | G | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1056-5155A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705799 | ||||||
| chr1:181705857
|
C | G | 11 | a0001c0001t0065g0173a0001c0004t0010g0067a0001c0004t0036g0062others(8): Show | 11 | HG02257.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1056-5097C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705857 | ||||||
| chr1:181705897
|
C | T | 1 | a0003c0003t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1056-5057C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181705897 | ||||||
| chr1:181706215
|
G | A | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-4739G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181706215 | ||||||
| chr1:181706456
|
C | T | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-4498C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181706456 | ||||||
| chr1:181706663
|
C | T | 1 | a0003c0003t0005g0192 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1056-4291C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181706663 | ||||||
| chr1:181706876
|
T | G | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-4078T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181706876 | ||||||
| chr1:181706941
|
T | C | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-4013T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181706941 | ||||||
| chr1:181707126
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-3828G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707126 | ||||||
| chr1:181707284
|
G | A | 2 | a0001c0008t0008g0164a0001c0008t0051g0165 | 2 | NA18906.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1056-3670G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707284 | ||||||
| chr1:181707340
|
G | A | 11 | a0001c0001t0065g0173a0001c0004t0010g0067a0001c0004t0036g0062others(8): Show | 11 | HG02257.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1056-3614G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707340 | ||||||
| chr1:181707397
|
C | T | 7 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0024g0003others(4): Show | 7 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.1056-3557C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707397 | ||||||
| chr1:181707570
|
G | A | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-3384G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707570 | ||||||
| chr1:181707580
|
A | G | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-3374A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707580 | ||||||
| chr1:181707610
|
AT | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-3341delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181707610 | |||||
| chr1:181707669
|
G | T | 1 | a0006c0018t0001g0056 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1056-3285G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181707669 | ||||||
| chr1:181708074
|
A | C | 1 | a0001c0001t0025g0057 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1056-2880A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708074 | ||||||
| chr1:181708161
|
C | T | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1056-2793C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708161 | ||||||
| chr1:181708162
|
A | G | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-2792A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708162 | ||||||
| chr1:181708243
|
C | T | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.1056-2711C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708243 | ||||||
| chr1:181708315
|
A | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-2639A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708315 | ||||||
| chr1:181708444
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1056-2510G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708444 | ||||||
| chr1:181708497
|
G | A | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-2457G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708497 | ||||||
| chr1:181708526
|
G | A | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1056-2428G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708526 | ||||||
| chr1:181708582
|
G | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-2372G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708582 | ||||||
| chr1:181708902
|
G | A | 1 | a0001c0012t0038g0002 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1056-2052G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708902 | ||||||
| chr1:181708936
|
G | A | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1056-2018G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708936 | ||||||
| chr1:181708985
|
C | T | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1056-1969C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181708985 | ||||||
| chr1:181709098
|
A | G | 1 | a0002c0002t0053g0104 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1056-1856A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709098 | ||||||
| chr1:181709112
|
G | A | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1056-1842G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709112 | ||||||
| chr1:181709282
|
A | G | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-1672A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709282 | ||||||
| chr1:181709376
|
G | A | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-1578G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709376 | ||||||
| chr1:181709544
|
C | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1056-1410C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709544 | ||||||
| chr1:181709580
|
A | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1056-1374A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181709580 | ||||||
| chr1:181709640
|
A | AT | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-1305dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181709640 | |||||
| chr1:181710025
|
T | C | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-929T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710025 | ||||||
| chr1:181710095
|
C | A | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1056-859C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710095 | ||||||
| chr1:181710279
|
A | G | 1 | a0002c0002t0002g0143 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1056-675A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710279 | ||||||
| chr1:181710559
|
A | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1056-395A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710559 | ||||||
| chr1:181710575
|
AT | A | 24 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0001t0063g0026others(21): Show | 24 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1056-377delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | 181710575 | |||||
| chr1:181710577
|
T | C | 5 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(2): Show |
intron_variant | MODIFIER | c.1056-377T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710577 | ||||||
| chr1:181710846
|
C | T | 1 | a0001c0005t0030g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1056-108C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710846 | ||||||
| chr1:181710850
|
A | G | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1056-104A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710850 | ||||||
| chr1:181710892
|
C | T | 1 | a0002c0002t0007g0094 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1056-62C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710892 | ||||||
| chr1:181710903
|
T | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1056-51T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710903 | ||||||
| chr1:181710946
|
G | A | 22 | a0001c0001t0016g0181a0001c0001t0033g0088a0001c0004t0001g0186others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
splice_region_variant&intron_variant | LOW | c.1056-8G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | chr1 | 181710946 | ||||||
| chr1:181711079
|
G | T | 1 | a0001c0001t0006g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1171+10G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711079 | ||||||
| chr1:181711082
|
G | A | 1 | a0002c0002t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1171+13G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711082 | ||||||
| chr1:181711448
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1171+379C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711448 | ||||||
| chr1:181711529
|
G | A | 147 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(144): Show | 147 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.1171+460G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711529 | ||||||
| chr1:181711663
|
A | G | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1171+594A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711663 | ||||||
| chr1:181711775
|
G | A | 1 | a0004c0007t0046g0007 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1171+706G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711775 | ||||||
| chr1:181711957
|
G | A | 23 | a0002c0002t0001g0023a0002c0002t0002g0143a0002c0002t0002g0184others(20): Show | 23 | HG00280.hp1 HG00639.hp2 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1171+888G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711957 | ||||||
| chr1:181711975
|
C | A | 1 | a0001c0001t0073g0114 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1171+906C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181711975 | ||||||
| chr1:181712001
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1171+932G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712001 | ||||||
| chr1:181712165
|
GT | G | 7 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(4): Show | 7 | HG01074.hp1 HG01109.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.1171+1099delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr1 | 181712165 | |||||
| chr1:181712198
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1171+1129T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712198 | ||||||
| chr1:181712242
|
C | G | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1171+1173C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712242 | ||||||
| chr1:181712357
|
C | T | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1171+1288C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712357 | ||||||
| chr1:181712408
|
A | T | 105 | a0001c0001t0002g0195a0001c0001t0003g0044a0001c0001t0004g0146others(102): Show | 105 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(102): Show |
intron_variant | MODIFIER | c.1171+1339A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712408 | ||||||
| chr1:181712535
|
T | C | 14 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(11): Show | 14 | HG01074.hp1 HG01109.hp2 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.1171+1466T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712535 | ||||||
| chr1:181712630
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1171+1561G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712630 | ||||||
| chr1:181712666
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1171+1597G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712666 | ||||||
| chr1:181712788
|
C | T | 4 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013others(1): Show | 4 | HG03471.hp1 NA18522.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1171+1719C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712788 | ||||||
| chr1:181712937
|
G | C | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1171+1868G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181712937 | ||||||
| chr1:181713104
|
C | T | 1 | a0003c0003t0005g0190 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1171+2035C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713104 | ||||||
| chr1:181713218
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1172-2120G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713218 | ||||||
| chr1:181713289
|
A | G | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1172-2049A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713289 | ||||||
| chr1:181713582
|
T | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1172-1756T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713582 | ||||||
| chr1:181713628
|
A | C | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1172-1710A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713628 | ||||||
| chr1:181713735
|
G | A | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1172-1603G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713735 | ||||||
| chr1:181713757
|
T | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1172-1581T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713757 | ||||||
| chr1:181713825
|
G | A | 8 | a0001c0001t0052g0081a0001c0001t0059g0107a0001c0001t0074g0109others(5): Show | 8 | HG01099.hp1 HG01891.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.1172-1513G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713825 | ||||||
| chr1:181713894
|
A | G | 4 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(1): Show | 4 | HG01074.hp1 HG01884.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1172-1444A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713894 | ||||||
| chr1:181713895
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1172-1443G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713895 | ||||||
| chr1:181713918
|
G | A | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1172-1420G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713918 | ||||||
| chr1:181713923
|
C | A | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1172-1415C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181713923 | ||||||
| chr1:181714078
|
G | A | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1172-1260G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714078 | ||||||
| chr1:181714093
|
G | T | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1172-1245G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714093 | ||||||
| chr1:181714157
|
G | A | 4 | a0001c0005t0024g0003a0001c0009t0040g0141a0001c0009t0078g0040others(1): Show | 4 | HG02258.hp2 HG02280.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1172-1181G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714157 | ||||||
| chr1:181714274
|
T | G | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1172-1064T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714274 | ||||||
| chr1:181714298
|
G | A | 1 | a0001c0001t0017g0045 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1172-1040G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714298 | ||||||
| chr1:181714479
|
C | T | 3 | a0001c0006t0002g0205a0001c0006t0004g0014a0002c0030t0079g0006 | 3 | HG00323.hp2 HG01517.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.1172-859C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714479 | ||||||
| chr1:181714537
|
A | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1172-801A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714537 | ||||||
| chr1:181714538
|
G | T | 3 | a0001c0001t0059g0107a0001c0001t0076g0087a0010c0023t0077g0008 | 3 | HG02040.hp2 HG03492.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.1172-800G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714538 | ||||||
| chr1:181714709
|
T | A | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1172-629T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714709 | ||||||
| chr1:181714771
|
A | G | 2 | a0001c0024t0067g0004a0002c0002t0050g0197 | 2 | HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1172-567A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181714771 | ||||||
| chr1:181715111
|
G | A | 1 | a0001c0001t0003g0134 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1172-227G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181715111 | ||||||
| chr1:181715278
|
A | C | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1172-60A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 8/47 | chr1 | 181715278 | ||||||
| chr1:181715469
|
A | G | 163 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(160): Show | 163 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(160): Show |
intron_variant | MODIFIER | c.1225+78A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 9/47 | chr1 | 181715469 | ||||||
| chr1:181715751
|
A | T | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1226-289A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 9/47 | chr1 | 181715751 | ||||||
| chr1:181716296
|
T | TA | 71 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0003g0044others(68): Show | 71 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.1315+183dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr1 | 181716296 | |||||
| chr1:181716297
|
A | T | 8 | a0001c0001t0052g0081a0001c0001t0059g0107a0001c0001t0074g0109others(5): Show | 8 | HG01099.hp1 HG01891.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.1315+168A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181716297 | ||||||
| chr1:181716323
|
A | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1315+194A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181716323 | ||||||
| chr1:181716579
|
G | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1315+450G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181716579 | ||||||
| chr1:181716601
|
T | C | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1315+472T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181716601 | ||||||
| chr1:181716656
|
C | T | 11 | a0001c0001t0011g0038a0001c0001t0066g0070a0001c0005t0018g0061others(8): Show | 11 | HG01891.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.1316-437C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181716656 | ||||||
| chr1:181717042
|
C | T | 1 | a0001c0001t0003g0044 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1316-51C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181717042 | ||||||
| chr1:181717043
|
G | A | 4 | a0001c0001t0010g0028a0001c0001t0019g0034a0001c0001t0019g0052others(1): Show | 4 | HG02630.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.1316-50G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181717043 | ||||||
| chr1:181717080
|
T | C | 89 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(86): Show | 89 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(86): Show |
intron_variant | MODIFIER | c.1316-13T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 10/47 | chr1 | 181717080 | ||||||
| chr1:181717408
|
A | G | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1525+106A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717408 | ||||||
| chr1:181717545
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1525+243G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717545 | ||||||
| chr1:181717557
|
C | T | 68 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(65): Show | 68 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
intron_variant | MODIFIER | c.1525+255C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717557 | ||||||
| chr1:181717613
|
T | C | 89 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(86): Show | 89 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(86): Show |
intron_variant | MODIFIER | c.1525+311T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717613 | ||||||
| chr1:181717627
|
T | A | 1 | a0001c0001t0006g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1525+325T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717627 | ||||||
| chr1:181717813
|
A | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1526-242A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717813 | ||||||
| chr1:181717845
|
G | T | 8 | a0001c0001t0052g0081a0001c0001t0059g0107a0001c0001t0074g0109others(5): Show | 8 | HG01099.hp1 HG01891.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.1526-210G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 11/47 | chr1 | 181717845 | ||||||
| chr1:181718212
|
T | C | 7 | a0001c0001t0002g0126a0001c0001t0008g0179a0001c0001t0013g0105others(4): Show | 7 | HG02738.hp2 HG02976.hp1 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.1638+45T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718212 | ||||||
| chr1:181718281
|
C | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1638+114C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718281 | ||||||
| chr1:181718338
|
G | C | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1638+171G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718338 | ||||||
| chr1:181718415
|
C | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1638+248C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718415 | ||||||
| chr1:181718546
|
C | T | 1 | a0001c0001t0017g0045 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1638+379C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718546 | ||||||
| chr1:181718611
|
A | AAC | 10 | a0001c0001t0006g0050a0001c0001t0006g0075a0001c0005t0024g0003others(7): Show | 10 | HG00741.hp2 HG01261.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.1638+499_1638+500d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
A | AACAC | 8 | a0001c0001t0004g0078a0001c0001t0006g0151a0001c0006t0002g0205others(5): Show | 8 | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.1638+497_1638+500d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
A | AACACAC | 2 | a0001c0026t0042g0025a0002c0030t0079g0006 | 2 | HG01978.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1638+495_1638+500d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
A | AACACACA others(3): Show |
1 | a0002c0002t0003g0201 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1638+491_1638+500d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AAC | A | 32 | a0001c0001t0005g0086a0001c0001t0005g0089a0001c0001t0006g0131others(29): Show | 32 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(29): Show |
intron_variant | MODIFIER | c.1638+499_1638+500d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACAC | A | 41 | a0001c0001t0002g0001a0001c0001t0006g0123a0001c0001t0006g0189others(38): Show | 41 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.1638+497_1638+500d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACAC | A | 26 | a0001c0001t0001g0166a0001c0001t0003g0134a0001c0001t0004g0146others(23): Show | 26 | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
intron_variant | MODIFIER | c.1638+495_1638+500d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(1): Show |
A | 19 | a0001c0001t0003g0130a0001c0001t0010g0028a0001c0001t0013g0187others(16): Show | 19 | HG01123.hp1 HG01258.hp2 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.1638+493_1638+500d others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(3): Show |
A | 23 | a0001c0001t0005g0015a0001c0001t0011g0038a0001c0001t0013g0105others(20): Show | 23 | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(20): Show |
intron_variant | MODIFIER | c.1638+491_1638+500d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(5): Show |
A | 4 | a0001c0001t0002g0126a0001c0001t0004g0058a0001c0001t0008g0179others(1): Show | 4 | HG02976.hp1 HG03831.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1638+489_1638+500d others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(7): Show |
A | 2 | a0001c0001t0064g0013a0001c0032t0062g0073 | 2 | HG01109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1638+487_1638+500d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(9): Show |
A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1638+485_1638+500d others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718611
|
AACACACA others(11): Show |
A | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1638+483_1638+500d others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718611 | |||||
| chr1:181718666
|
A | C | 4 | a0001c0005t0032g0029a0001c0005t0032g0099a0002c0002t0003g0161others(1): Show | 4 | HG00735.hp2 HG02723.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.1638+499A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181718666 | ||||||
| chr1:181718666
|
AC | A | 3 | a0001c0005t0071g0110a0002c0002t0002g0140a0003c0003t0001g0009 | 3 | HG00642.hp2 HG01934.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1638+502delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 181718666 | |||||
| chr1:181719118
|
G | A | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1639-633G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719118 | ||||||
| chr1:181719127
|
G | A | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1639-624G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719127 | ||||||
| chr1:181719294
|
G | A | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1639-457G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719294 | ||||||
| chr1:181719347
|
A | G | 157 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0003g0044others(154): Show | 157 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(154): Show |
intron_variant | MODIFIER | c.1639-404A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719347 | ||||||
| chr1:181719417
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1639-334G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719417 | ||||||
| chr1:181719579
|
A | G | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1639-172A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719579 | ||||||
| chr1:181719667
|
G | C | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1639-84G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719667 | ||||||
| chr1:181719732
|
G | A | 42 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(39): Show | 42 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.1639-19G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | chr1 | 181719732 | ||||||
| chr1:181719976
|
C | T | 5 | a0001c0001t0016g0181a0001c0004t0004g0137a0001c0004t0004g0185others(2): Show | 5 | HG01123.hp2 HG01978.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+113C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 13/47 | chr1 | 181719976 | ||||||
| chr1:181720384
|
C | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1883+47C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 14/47 | chr1 | 181720384 | ||||||
| chr1:181720668
|
GA | G | 4 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0051g0165others(1): Show | 4 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.1884-114delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 14/47 | chr1 | 181720668 | ||||||
| chr1:181720874
|
G | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1956+19G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181720874 | ||||||
| chr1:181721048
|
T | C | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1956+193T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721048 | ||||||
| chr1:181721148
|
T | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1956+293T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721148 | ||||||
| chr1:181721291
|
T | C | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1956+436T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721291 | ||||||
| chr1:181721352
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1957-406G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721352 | ||||||
| chr1:181721574
|
T | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1957-184T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721574 | ||||||
| chr1:181721609
|
A | T | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1957-149A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | chr1 | 181721609 | ||||||
| chr1:181721614
|
CT | C | 11 | a0001c0001t0002g0001a0001c0001t0004g0058a0001c0001t0005g0172others(8): Show | 11 | HG01074.hp2 HG02135.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1957-131delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr1 | 181721614 | |||||
| chr1:181721983
|
G | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2074+108G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181721983 | ||||||
| chr1:181721989
|
A | C | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2074+114A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181721989 | ||||||
| chr1:181722018
|
T | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2074+143T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722018 | ||||||
| chr1:181722623
|
T | G | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(4): Show | 7 | HG01074.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2074+748T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722623 | ||||||
| chr1:181722722
|
C | T | 1 | a0003c0003t0001g0096 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2074+847C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722722 | ||||||
| chr1:181722764
|
C | T | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2074+889C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722764 | ||||||
| chr1:181722811
|
T | G | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2074+936T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722811 | ||||||
| chr1:181722826
|
A | G | 180 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(177): Show | 180 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(177): Show |
intron_variant | MODIFIER | c.2074+951A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181722826 | ||||||
| chr1:181723080
|
A | T | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2074+1205A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723080 | ||||||
| chr1:181723213
|
A | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2075-1257A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723213 | ||||||
| chr1:181723309
|
T | A | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2075-1161T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723309 | ||||||
| chr1:181723474
|
C | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2075-996C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723474 | ||||||
| chr1:181723509
|
C | T | 1 | a0001c0001t0017g0046 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2075-961C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723509 | ||||||
| chr1:181723854
|
G | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(4): Show | 7 | HG01074.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.2075-616G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723854 | ||||||
| chr1:181723936
|
A | T | 9 | a0001c0001t0065g0173a0001c0004t0010g0067a0001c0004t0036g0062others(6): Show | 9 | HG02280.hp1 HG02922.hp1 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.2075-534A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181723936 | ||||||
| chr1:181724183
|
C | T | 21 | a0001c0001t0016g0181a0001c0004t0001g0186a0001c0004t0002g0071others(18): Show | 21 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.2075-287C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 16/47 | chr1 | 181724183 | ||||||
| chr1:181724786
|
A | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2142+249A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181724786 | ||||||
| chr1:181724973
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2142+436G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181724973 | ||||||
| chr1:181725031
|
A | C | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2142+494A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725031 | ||||||
| chr1:181725149
|
G | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(4): Show | 7 | HG01074.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.2142+612G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725149 | ||||||
| chr1:181725255
|
C | T | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2142+718C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725255 | ||||||
| chr1:181725449
|
C | T | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2143-616C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725449 | ||||||
| chr1:181725481
|
G | A | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2143-584G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725481 | ||||||
| chr1:181725546
|
G | T | 2 | a0001c0024t0067g0004a0002c0002t0050g0197 | 2 | HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2143-519G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725546 | ||||||
| chr1:181725612
|
A | G | 15 | a0001c0001t0002g0195a0001c0001t0004g0058a0001c0001t0024g0112others(12): Show | 15 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.2143-453A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725612 | ||||||
| chr1:181725654
|
T | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2143-411T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725654 | ||||||
| chr1:181725934
|
T | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2143-131T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725934 | ||||||
| chr1:181725952
|
T | G | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2143-113T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 17/47 | chr1 | 181725952 | ||||||
| chr1:181726233
|
T | A | 1 | a0002c0002t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2240+71T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181726233 | ||||||
| chr1:181726599
|
A | G | 2 | a0002c0002t0021g0010a0002c0002t0021g0115 | 2 | HG00639.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2240+437A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181726599 | ||||||
| chr1:181726850
|
C | G | 143 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(140): Show | 143 | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(140): Show |
intron_variant | MODIFIER | c.2240+688C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181726850 | ||||||
| chr1:181727031
|
T | A | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2240+869T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727031 | ||||||
| chr1:181727154
|
A | G | 1 | a0002c0002t0003g0144 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2240+992A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727154 | ||||||
| chr1:181727265
|
T | C | 12 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0001t0063g0026others(9): Show | 12 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2240+1103T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727265 | ||||||
| chr1:181727409
|
G | A | 4 | a0003c0003t0001g0009a0003c0003t0001g0096a0003c0003t0022g0177others(1): Show | 4 | HG00642.hp2 HG02293.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2240+1247G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727409 | ||||||
| chr1:181727465
|
GA | G | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2240+1304delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727465 | ||||||
| chr1:181727529
|
G | A | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2240+1367G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727529 | ||||||
| chr1:181727575
|
G | A | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2240+1413G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727575 | ||||||
| chr1:181727601
|
G | A | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2240+1439G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727601 | ||||||
| chr1:181727653
|
G | A | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2240+1491G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727653 | ||||||
| chr1:181727892
|
C | T | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2240+1730C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727892 | ||||||
| chr1:181727925
|
G | A | 17 | a0001c0001t0011g0038a0001c0001t0048g0054a0001c0001t0065g0173others(14): Show | 17 | HG01891.hp2 HG02280.hp1 HG02615.hp1 others(14): Show |
intron_variant | MODIFIER | c.2240+1763G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727925 | ||||||
| chr1:181727944
|
C | T | 3 | a0001c0012t0029g0163a0001c0012t0038g0002a0003c0003t0061g0059 | 3 | HG01884.hp1 HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2240+1782C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727944 | ||||||
| chr1:181727970
|
G | A | 1 | a0001c0001t0016g0133 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2240+1808G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727970 | ||||||
| chr1:181727993
|
T | A | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.2240+1831T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181727993 | ||||||
| chr1:181728013
|
G | A | 1 | a0001c0009t0018g0041 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2240+1851G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728013 | ||||||
| chr1:181728059
|
A | G | 18 | a0001c0001t0016g0181a0001c0004t0001g0186a0001c0004t0002g0101others(15): Show | 18 | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.2240+1897A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728059 | ||||||
| chr1:181728116
|
A | G | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.2240+1954A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728116 | ||||||
| chr1:181728291
|
C | G | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2240+2129C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728291 | ||||||
| chr1:181728306
|
A | T | 1 | a0002c0002t0015g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.2240+2144A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728306 | ||||||
| chr1:181728546
|
T | A | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2240+2384T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728546 | ||||||
| chr1:181728552
|
G | A | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2240+2390G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728552 | ||||||
| chr1:181728837
|
CGTGTGTG others(109): Show |
C | 3 | a0001c0001t0001g0166a0001c0004t0008g0032a0001c0004t0008g0122 | 3 | HG00597.hp1 HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2241-2114_2241-199 others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr1 | 181728837 | |||||
| chr1:181728876
|
G | A | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2241-2299G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728876 | ||||||
| chr1:181728918
|
G | A | 1 | a0003c0003t0022g0193 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2241-2257G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728918 | ||||||
| chr1:181728996
|
G | C | 1 | a0002c0002t0026g0175 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2241-2179G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181728996 | ||||||
| chr1:181729025
|
T | C | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(4): Show | 7 | HG01074.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2241-2150T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729025 | ||||||
| chr1:181729204
|
C | T | 4 | a0001c0001t0003g0134a0001c0001t0006g0042a0001c0001t0006g0151others(1): Show | 4 | HG00438.hp1 HG02015.hp1 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.2241-1971C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729204 | ||||||
| chr1:181729327
|
G | A | 9 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2241-1848G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729327 | ||||||
| chr1:181729516
|
C | G | 66 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(63): Show | 66 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.2241-1659C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729516 | ||||||
| chr1:181729557
|
G | A | 65 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0016g0181others(62): Show | 65 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.2241-1618G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729557 | ||||||
| chr1:181729587
|
A | C | 10 | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(7): Show | 10 | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.2241-1588A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729587 | ||||||
| chr1:181729631
|
T | C | 3 | a0001c0001t0065g0173a0001c0004t0010g0067a0001c0004t0036g0062 | 3 | HG02280.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2241-1544T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729631 | ||||||
| chr1:181729779
|
C | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(4): Show | 7 | HG01074.hp2 HG02630.hp2 HG03209.hp1 others(4): Show |
intron_variant | MODIFIER | c.2241-1396C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729779 | ||||||
| chr1:181729817
|
G | A | 3 | a0001c0001t0059g0107a0001c0001t0076g0087a0010c0023t0077g0008 | 3 | HG02040.hp2 HG03492.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.2241-1358G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729817 | ||||||
| chr1:181729940
|
C | T | 1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2241-1235C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729940 | ||||||
| chr1:181729941
|
G | A | 23 | a0003c0003t0001g0012a0003c0003t0001g0076a0003c0003t0001g0106others(20): Show | 23 | HG00609.hp1 HG00673.hp1 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.2241-1234G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181729941 | ||||||
| chr1:181730065
|
T | G | 3 | a0001c0001t0004g0058a0001c0001t0025g0057a0001c0001t0064g0013 | 3 | HG03471.hp1 NA18522.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2241-1110T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730065 | ||||||
| chr1:181730101
|
C | T | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2241-1074C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730101 | ||||||
| chr1:181730137
|
T | G | 1 | a0002c0002t0003g0159 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2241-1038T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730137 | ||||||
| chr1:181730156
|
A | G | 2 | a0001c0001t0016g0133a0002c0002t0003g0144 | 2 | HG02257.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.2241-1019A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730156 | ||||||
| chr1:181730285
|
G | A | 2 | a0003c0003t0001g0119a0003c0003t0001g0120 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2241-890G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730285 | ||||||
| chr1:181730455
|
G | T | 2 | a0001c0001t0019g0034a0001c0001t0019g0052 | 2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2241-720G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730455 | ||||||
| chr1:181730792
|
G | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2241-383G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181730792 | ||||||
| chr1:181731084
|
C | A | 1 | a0003c0003t0005g0192 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.2241-91C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | chr1 | 181731084 | ||||||
| chr1:181731353
|
T | C | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2297+122T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181731353 | ||||||
| chr1:181731553
|
C | T | 1 | a0001c0020t0031g0074 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2297+322C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181731553 | ||||||
| chr1:181731576
|
G | A | 2 | a0001c0001t0011g0092a0001c0006t0011g0158 | 2 | HG01358.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.2297+345G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181731576 | ||||||
| chr1:181731646
|
C | T | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2297+415C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181731646 | ||||||
| chr1:181731702
|
C | T | 130 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0058others(127): Show | 130 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(127): Show |
intron_variant | MODIFIER | c.2297+471C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181731702 | ||||||
| chr1:181732014
|
A | T | 1 | a0001c0032t0062g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2298-370A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181732014 | ||||||
| chr1:181732277
|
C | T | 2 | a0001c0004t0002g0101a0001c0004t0002g0160 | 2 | HG00642.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2298-107C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181732277 | ||||||
| chr1:181732287
|
C | T | 53 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0015others(50): Show | 53 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(50): Show |
intron_variant | MODIFIER | c.2298-97C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181732287 | ||||||
| chr1:181732323
|
CCA | C | 4 | a0001c0001t0010g0028a0001c0001t0019g0034a0001c0001t0019g0052others(1): Show | 4 | HG02630.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.2298-59_2298-58del others(2): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | INFO_REALIGN_3_PRIME | chr1 | 181732323 | |||||
| chr1:181732346
|
T | C | 2 | a0001c0024t0067g0004a0002c0002t0050g0197 | 2 | HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2298-38T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181732346 | ||||||
| chr1:181732368
|
C | T | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2298-16C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 19/47 | chr1 | 181732368 | ||||||
| chr1:181733357
|
C | T | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2949-80C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/47 | chr1 | 181733357 | ||||||
| chr1:181733358
|
G | A | 8 | a0001c0001t0065g0173a0001c0001t0066g0070a0001c0005t0026g0031others(5): Show | 8 | HG02922.hp1 HG02922.hp2 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.2949-79G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/47 | chr1 | 181733358 | ||||||
| chr1:181733399
|
C | T | 1 | a0001c0001t0006g0075 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2949-38C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 20/47 | chr1 | 181733399 | ||||||
| chr1:181733839
|
C | T | 2 | a0003c0010t0002g0035a0003c0010t0002g0113 | 2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3262+89C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181733839 | ||||||
| chr1:181734114
|
T | A | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3262+364T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734114 | ||||||
| chr1:181734140
|
T | G | 106 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(103): Show | 106 | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(103): Show |
intron_variant | MODIFIER | c.3262+390T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734140 | ||||||
| chr1:181734153
|
T | C | 1 | a0001c0005t0032g0029 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3262+403T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734153 | ||||||
| chr1:181734240
|
T | C | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3262+490T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734240 | ||||||
| chr1:181734356
|
G | C | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.3262+606G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734356 | ||||||
| chr1:181734480
|
G | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3262+730G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734480 | ||||||
| chr1:181734552
|
CCTGACCC others(68): Show |
C | 1 | a0001c0001t0006g0189 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3262+837_3262+911d others(77): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr1 | 181734552 | |||||
| chr1:181734650
|
C | A | 44 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(41): Show | 44 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.3262+900C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734650 | ||||||
| chr1:181734693
|
GATCCCTG others(68): Show |
G | 5 | a0001c0001t0006g0123a0001c0001t0011g0038a0001c0005t0018g0061others(2): Show | 5 | HG00280.hp2 HG01891.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.3262+1013_3262+108 others(79): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr1 | 181734693 | |||||
| chr1:181734742
|
C | T | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.3262+992C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734742 | ||||||
| chr1:181734763
|
T | TACCCCAT others(68): Show |
7 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(4): Show | 7 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.3262+1027_3262+110 others(79): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr1 | 181734763 | |||||
| chr1:181734955
|
C | G | 1 | a0002c0025t0004g0065 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3262+1205C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734955 | ||||||
| chr1:181734971
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3262+1221T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181734971 | ||||||
| chr1:181735041
|
C | T | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3263-1234C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181735041 | ||||||
| chr1:181735166
|
G | A | 14 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(11): Show | 14 | HG00408.hp2 HG00438.hp2 HG00673.hp2 others(11): Show |
intron_variant | MODIFIER | c.3263-1109G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181735166 | ||||||
| chr1:181735461
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3263-814G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181735461 | ||||||
| chr1:181735652
|
C | A | 48 | a0001c0005t0032g0029a0001c0005t0032g0099a0001c0008t0008g0030others(45): Show | 48 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.3263-623C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181735652 | ||||||
| chr1:181736244
|
T | C | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3263-31T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181736244 | ||||||
| chr1:181736260
|
G | A | 10 | a0001c0001t0063g0026a0001c0001t0065g0173a0001c0001t0066g0070others(7): Show | 10 | HG02723.hp2 HG02922.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.3263-15G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 21/47 | chr1 | 181736260 | ||||||
| chr1:181736646
|
A | T | 33 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(30): Show | 33 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(30): Show |
intron_variant | MODIFIER | c.3422+212A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181736646 | ||||||
| chr1:181736944
|
G | A | 1 | a0003c0003t0022g0193 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3422+510G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181736944 | ||||||
| chr1:181736979
|
G | A | 4 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(1): Show | 4 | HG01074.hp1 HG01884.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3422+545G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181736979 | ||||||
| chr1:181736992
|
T | G | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3423-533T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181736992 | ||||||
| chr1:181737065
|
A | G | 46 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(43): Show | 46 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.3423-460A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181737065 | ||||||
| chr1:181737404
|
C | T | 7 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(4): Show | 7 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.3423-121C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181737404 | ||||||
| chr1:181737416
|
G | A | 47 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(44): Show | 47 | HG00280.hp1 HG00639.hp2 HG00735.hp2 others(44): Show |
intron_variant | MODIFIER | c.3423-109G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 22/47 | chr1 | 181737416 | ||||||
| chr1:181737730
|
G | A | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3552+76G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181737730 | ||||||
| chr1:181737864
|
G | A | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3552+210G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181737864 | ||||||
| chr1:181737866
|
C | CCAGGGCT others(3): Show |
1 | a0003c0003t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3552+226_3552+235d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr1 | 181737866 | |||||
| chr1:181737866
|
CCAGGGCT others(3): Show |
C | 5 | a0001c0001t0005g0089a0001c0001t0017g0045a0001c0001t0017g0046others(2): Show | 5 | HG00597.hp2 HG01258.hp1 HG01993.hp1 others(2): Show |
intron_variant | MODIFIER | c.3552+226_3552+235d others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr1 | 181737866 | |||||
| chr1:181737896
|
A | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3552+242A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181737896 | ||||||
| chr1:181737909
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3552+255T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181737909 | ||||||
| chr1:181738025
|
G | A | 1 | a0001c0001t0009g0049 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3553-342G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181738025 | ||||||
| chr1:181738155
|
G | T | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3553-212G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181738155 | ||||||
| chr1:181738274
|
G | A | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0005c0013t0020g0194others(1): Show | 4 | HG02723.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3553-93G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 23/47 | chr1 | 181738274 | ||||||
| chr1:181739032
|
A | G | 48 | a0001c0005t0032g0029a0001c0005t0032g0099a0001c0008t0008g0030others(45): Show | 48 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.3613-115A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 24/47 | chr1 | 181739032 | ||||||
| chr1:181739396
|
C | G | 3 | a0001c0001t0066g0070a0001c0024t0067g0004a0002c0002t0050g0197 | 3 | HG02965.hp2 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3719+143C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181739396 | ||||||
| chr1:181739412
|
C | T | 1 | a0001c0026t0042g0025 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3719+159C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181739412 | ||||||
| chr1:181739451
|
C | T | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.3719+198C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181739451 | ||||||
| chr1:181739596
|
G | A | 1 | a0001c0001t0005g0172 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.3719+343G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181739596 | ||||||
| chr1:181740096
|
A | G | 48 | a0001c0005t0032g0029a0001c0005t0032g0099a0001c0008t0008g0030others(45): Show | 48 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.3719+843A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740096 | ||||||
| chr1:181740114
|
C | G | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3719+861C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740114 | ||||||
| chr1:181740131
|
A | G | 1 | a0001c0001t0002g0001 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3719+878A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740131 | ||||||
| chr1:181740437
|
G | T | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3719+1184G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740437 | ||||||
| chr1:181740689
|
T | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3719+1436T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740689 | ||||||
| chr1:181740933
|
C | T | 1 | a0003c0003t0010g0127 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3719+1680C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181740933 | ||||||
| chr1:181741081
|
A | G | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3719+1828A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181741081 | ||||||
| chr1:181741176
|
C | T | 10 | a0001c0001t0063g0026a0001c0001t0065g0173a0001c0001t0066g0070others(7): Show | 10 | HG02723.hp2 HG02922.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.3719+1923C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181741176 | ||||||
| chr1:181741481
|
G | C | 162 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(159): Show | 162 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.3719+2228G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181741481 | ||||||
| chr1:181741801
|
G | A | 104 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(101): Show | 104 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.3719+2548G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181741801 | ||||||
| chr1:181741806
|
C | T | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3719+2553C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181741806 | ||||||
| chr1:181742156
|
A | C | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3719+2903A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742156 | ||||||
| chr1:181742681
|
C | G | 50 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0015others(47): Show | 50 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(47): Show |
intron_variant | MODIFIER | c.3719+3428C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742681 | ||||||
| chr1:181742744
|
G | A | 1 | a0002c0002t0003g0167 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.3719+3491G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742744 | ||||||
| chr1:181742831
|
G | A | 1 | a0003c0003t0005g0180 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.3719+3578G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742831 | ||||||
| chr1:181742852
|
C | T | 1 | a0003c0003t0004g0124 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3719+3599C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742852 | ||||||
| chr1:181742867
|
G | C | 82 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(79): Show | 82 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.3719+3614G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742867 | ||||||
| chr1:181742932
|
T | G | 22 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.3719+3679T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742932 | ||||||
| chr1:181742933
|
G | A | 22 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.3719+3680G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181742933 | ||||||
| chr1:181742981
|
TA | T | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0005c0013t0020g0194others(1): Show | 4 | HG02723.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3719+3736delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181742981 | |||||
| chr1:181743004
|
C | G | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3719+3751C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743004 | ||||||
| chr1:181743046
|
T | A | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3719+3793T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743046 | ||||||
| chr1:181743153
|
C | T | 1 | a0001c0020t0031g0074 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.3719+3900C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743153 | ||||||
| chr1:181743154
|
G | A | 50 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(47): Show | 50 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.3719+3901G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743154 | ||||||
| chr1:181743203
|
G | C | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0005c0013t0020g0194others(1): Show | 4 | HG02723.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3719+3950G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743203 | ||||||
| chr1:181743240
|
T | C | 164 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(161): Show | 164 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(161): Show |
intron_variant | MODIFIER | c.3719+3987T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743240 | ||||||
| chr1:181743289
|
CTCTTT | C | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3719+4038_3719+404 others(9): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181743289 | |||||
| chr1:181743393
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3719+4140G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743393 | ||||||
| chr1:181743535
|
A | G | 164 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(161): Show | 164 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(161): Show |
intron_variant | MODIFIER | c.3719+4282A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743535 | ||||||
| chr1:181743652
|
T | C | 9 | a0001c0001t0063g0026a0001c0001t0065g0173a0001c0001t0070g0037others(6): Show | 9 | HG02723.hp1 HG02723.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.3719+4399T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743652 | ||||||
| chr1:181743675
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3719+4422G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743675 | ||||||
| chr1:181743747
|
T | C | 19 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(16): Show | 19 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.3719+4494T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743747 | ||||||
| chr1:181743750
|
A | G | 19 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(16): Show | 19 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(16): Show |
intron_variant | MODIFIER | c.3719+4497A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743750 | ||||||
| chr1:181743906
|
G | A | 62 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(59): Show | 62 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(59): Show |
intron_variant | MODIFIER | c.3719+4653G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181743906 | ||||||
| chr1:181744268
|
A | G | 2 | a0002c0002t0014g0125a0002c0002t0028g0021 | 2 | HG02015.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.3719+5015A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744268 | ||||||
| chr1:181744320
|
A | G | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3719+5067A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744320 | ||||||
| chr1:181744375
|
G | A | 1 | a0002c0002t0034g0080 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3719+5122G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744375 | ||||||
| chr1:181744615
|
G | C | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.3719+5362G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744615 | ||||||
| chr1:181744660
|
T | G | 1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3719+5407T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744660 | ||||||
| chr1:181744736
|
CT | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3719+5485delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181744736 | |||||
| chr1:181744808
|
T | C | 162 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(159): Show | 162 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.3719+5555T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181744808 | ||||||
| chr1:181745036
|
G | A | 133 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(130): Show | 133 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.3720-5440G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745036 | ||||||
| chr1:181745048
|
T | C | 22 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(19): Show | 22 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.3720-5428T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745048 | ||||||
| chr1:181745215
|
C | T | 1 | a0001c0031t0004g0118 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.3720-5261C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745215 | ||||||
| chr1:181745330
|
A | T | 1 | a0002c0002t0026g0175 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3720-5146A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745330 | ||||||
| chr1:181745619
|
G | C | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.3720-4857G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745619 | ||||||
| chr1:181745755
|
TAGAA | T | 4 | a0001c0001t0011g0068a0001c0001t0052g0081a0001c0001t0074g0109others(1): Show | 4 | HG01891.hp1 HG02559.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.3720-4717_3720-471 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181745755 | |||||
| chr1:181745970
|
G | A | 46 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(43): Show | 46 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.3720-4506G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181745970 | ||||||
| chr1:181746010
|
A | G | 133 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(130): Show | 133 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(130): Show |
intron_variant | MODIFIER | c.3720-4466A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746010 | ||||||
| chr1:181746041
|
G | T | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3720-4435G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746041 | ||||||
| chr1:181746074
|
G | A | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0005c0013t0020g0194others(1): Show | 4 | HG02723.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3720-4402G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746074 | ||||||
| chr1:181746136
|
G | A | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3720-4340G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746136 | ||||||
| chr1:181746163
|
C | T | 1 | a0001c0006t0004g0102 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3720-4313C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746163 | ||||||
| chr1:181746289
|
G | T | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3720-4187G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746289 | ||||||
| chr1:181746338
|
C | T | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3720-4138C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746338 | ||||||
| chr1:181746423
|
T | A | 1 | a0001c0001t0005g0086 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.3720-4053T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746423 | ||||||
| chr1:181746531
|
A | G | 2 | a0001c0015t0047g0027a0001c0026t0042g0025 | 2 | HG01099.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3720-3945A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746531 | ||||||
| chr1:181746677
|
T | C | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3720-3799T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746677 | ||||||
| chr1:181746735
|
T | C | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3720-3741T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746735 | ||||||
| chr1:181746759
|
TC | T | 140 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(137): Show | 140 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.3720-3715delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181746759 | |||||
| chr1:181746892
|
C | T | 1 | a0001c0026t0042g0025 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3720-3584C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181746892 | ||||||
| chr1:181747138
|
A | C | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3720-3338A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747138 | ||||||
| chr1:181747154
|
G | GATTCCT | 62 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(59): Show | 62 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(59): Show |
intron_variant | MODIFIER | c.3720-3321_3720-331 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181747154 | |||||
| chr1:181747274
|
A | T | 1 | a0001c0004t0002g0101 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3720-3202A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747274 | ||||||
| chr1:181747340
|
G | A | 2 | a0001c0009t0040g0141a0001c0009t0078g0040 | 2 | HG02258.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.3720-3136G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747340 | ||||||
| chr1:181747449
|
CA | C | 49 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(46): Show | 49 | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.3720-3026delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747449 | ||||||
| chr1:181747449
|
CAT | C | 4 | a0001c0004t0004g0072a0001c0008t0008g0164a0001c0008t0051g0165others(1): Show | 4 | HG01099.hp2 HG02895.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3720-3026_3720-302 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747449 | ||||||
| chr1:181747450
|
A | T | 15 | a0001c0009t0040g0141a0001c0009t0078g0040a0001c0011t0004g0091others(12): Show | 15 | HG00609.hp1 HG01192.hp2 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.3720-3026A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747450 | ||||||
| chr1:181747450
|
AT | A | 8 | a0001c0001t0064g0013a0001c0001t0065g0173a0001c0005t0024g0003others(5): Show | 8 | HG02809.hp1 HG02922.hp2 HG03209.hp1 others(5): Show |
intron_variant | MODIFIER | c.3720-3007delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181747450 | |||||
| chr1:181747450
|
ATT | A | 86 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(83): Show | 86 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.3720-3008_3720-300 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181747450 | |||||
| chr1:181747522
|
G | A | 94 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(91): Show | 94 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.3720-2954G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747522 | ||||||
| chr1:181747674
|
G | A | 1 | a0001c0001t0012g0060 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.3720-2802G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747674 | ||||||
| chr1:181747765
|
A | T | 46 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(43): Show | 46 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.3720-2711A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747765 | ||||||
| chr1:181747808
|
G | A | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3720-2668G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747808 | ||||||
| chr1:181747911
|
G | A | 23 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(20): Show | 23 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.3720-2565G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747911 | ||||||
| chr1:181747941
|
C | G | 1 | a0001c0012t0029g0163 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3720-2535C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181747941 | ||||||
| chr1:181748092
|
G | C | 1 | a0001c0006t0004g0102 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3720-2384G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748092 | ||||||
| chr1:181748220
|
G | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3720-2256G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748220 | ||||||
| chr1:181748352
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3720-2124T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748352 | ||||||
| chr1:181748452
|
T | C | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3720-2024T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748452 | ||||||
| chr1:181748456
|
G | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3720-2020G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748456 | ||||||
| chr1:181748464
|
C | T | 163 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(160): Show | 163 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(160): Show |
intron_variant | MODIFIER | c.3720-2012C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748464 | ||||||
| chr1:181748699
|
T | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3720-1777T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748699 | ||||||
| chr1:181748731
|
C | A | 41 | a0001c0001t0002g0195a0001c0001t0016g0181a0001c0001t0017g0045others(38): Show | 41 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.3720-1745C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748731 | ||||||
| chr1:181748750
|
A | G | 1 | a0001c0004t0016g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3720-1726A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181748750 | ||||||
| chr1:181749134
|
A | T | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3720-1342A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749134 | ||||||
| chr1:181749263
|
G | A | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3720-1213G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749263 | ||||||
| chr1:181749303
|
G | C | 4 | a0001c0001t0011g0038a0001c0005t0018g0061a0001c0005t0030g0150others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.3720-1173G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749303 | ||||||
| chr1:181749324
|
C | A | 1 | a0002c0002t0057g0168 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3720-1152C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749324 | ||||||
| chr1:181749710
|
T | A | 1 | a0005c0027t0027g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3720-766T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749710 | ||||||
| chr1:181749737
|
C | T | 25 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(22): Show | 25 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.3720-739C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749737 | ||||||
| chr1:181749772
|
A | T | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3720-704A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181749772 | ||||||
| chr1:181749944
|
GTCTC | G | 2 | a0001c0008t0008g0164a0001c0008t0051g0165 | 2 | NA18906.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3720-526_3720-523d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | 181749944 | |||||
| chr1:181750014
|
G | C | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3720-462G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181750014 | ||||||
| chr1:181750096
|
A | T | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3720-380A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181750096 | ||||||
| chr1:181750222
|
G | A | 1 | a0002c0002t0015g0048 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.3720-254G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181750222 | ||||||
| chr1:181750420
|
T | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3720-56T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | chr1 | 181750420 | ||||||
| chr1:181750543
|
C | T | 94 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(91): Show | 94 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.3731+56C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181750543 | ||||||
| chr1:181750560
|
G | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3731+73G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181750560 | ||||||
| chr1:181750941
|
C | G | 1 | a0001c0001t0006g0050 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.3731+454C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181750941 | ||||||
| chr1:181751216
|
G | C | 1 | a0002c0002t0003g0043 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.3731+729G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751216 | ||||||
| chr1:181751252
|
C | CATT | 68 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(65): Show | 68 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.3731+766_3731+768d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr1 | 181751252 | |||||
| chr1:181751485
|
G | C | 17 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(14): Show | 17 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.3732-658G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751485 | ||||||
| chr1:181751541
|
G | A | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.3732-602G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751541 | ||||||
| chr1:181751693
|
C | T | 4 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(1): Show | 4 | HG01074.hp1 HG01884.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3732-450C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751693 | ||||||
| chr1:181751880
|
C | T | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3732-263C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751880 | ||||||
| chr1:181751936
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3732-207C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181751936 | ||||||
| chr1:181752129
|
C | T | 13 | a0001c0001t0002g0126a0001c0001t0004g0146a0001c0001t0005g0015others(10): Show | 13 | HG00408.hp1 HG02300.hp2 HG02698.hp2 others(10): Show |
intron_variant | MODIFIER | c.3732-14C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 26/47 | chr1 | 181752129 | ||||||
| chr1:181752307
|
C | T | 4 | a0001c0001t0063g0026a0001c0001t0070g0037a0005c0013t0020g0194others(1): Show | 4 | HG02723.hp2 HG02922.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3828+68C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752307 | ||||||
| chr1:181752379
|
T | G | 3 | a0001c0001t0006g0042a0001c0001t0006g0151a0001c0001t0006g0183 | 3 | HG00438.hp1 HG02015.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.3828+140T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752379 | ||||||
| chr1:181752605
|
T | A | 1 | a0009c0021t0002g0098 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3828+366T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752605 | ||||||
| chr1:181752624
|
C | T | 1 | a0001c0004t0002g0071 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3828+385C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752624 | ||||||
| chr1:181752654
|
T | C | 2 | a0001c0015t0047g0027a0001c0026t0042g0025 | 2 | HG01099.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3828+415T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752654 | ||||||
| chr1:181752780
|
G | A | 1 | a0002c0002t0003g0084 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.3828+541G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752780 | ||||||
| chr1:181752785
|
C | A | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3828+546C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752785 | ||||||
| chr1:181752820
|
C | T | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+581C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752820 | ||||||
| chr1:181752973
|
C | T | 1 | a0002c0002t0007g0094 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.3828+734C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181752973 | ||||||
| chr1:181753138
|
A | AAG | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+899_3828+900i others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753138 | ||||||
| chr1:181753140
|
C | A | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+901C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753140 | ||||||
| chr1:181753143
|
CAG | C | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+905_3828+906d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753143 | ||||||
| chr1:181753146
|
G | T | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+907G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753146 | ||||||
| chr1:181753245
|
C | T | 1 | a0003c0003t0005g0170 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3828+1006C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753245 | ||||||
| chr1:181753263
|
G | A | 20 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(17): Show | 20 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.3828+1024G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753263 | ||||||
| chr1:181753484
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3828+1245T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753484 | ||||||
| chr1:181753629
|
G | A | 46 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(43): Show | 46 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.3828+1390G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753629 | ||||||
| chr1:181753630
|
G | A | 3 | a0001c0001t0066g0070a0001c0024t0067g0004a0002c0002t0050g0197 | 3 | HG02965.hp2 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3828+1391G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753630 | ||||||
| chr1:181753851
|
G | T | 1 | a0001c0001t0024g0112 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3829-1386G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753851 | ||||||
| chr1:181753992
|
C | A | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3829-1245C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181753992 | ||||||
| chr1:181754311
|
G | A | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-926G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754311 | ||||||
| chr1:181754312
|
T | A | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-925T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754312 | ||||||
| chr1:181754313
|
G | T | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-924G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754313 | ||||||
| chr1:181754314
|
CCT | C | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-922_3829-921d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754314 | ||||||
| chr1:181754317
|
G | A | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-920G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754317 | ||||||
| chr1:181754318
|
T | A | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.3829-919T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754318 | ||||||
| chr1:181754586
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3829-651C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754586 | ||||||
| chr1:181754817
|
C | T | 1 | a0001c0001t0006g0123 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.3829-420C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754817 | ||||||
| chr1:181754830
|
G | A | 1 | a0002c0002t0002g0155 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.3829-407G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181754830 | ||||||
| chr1:181755035
|
G | A | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.3829-202G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181755035 | ||||||
| chr1:181755073
|
A | G | 43 | a0001c0001t0002g0195a0001c0001t0016g0133a0001c0001t0016g0181others(40): Show | 43 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.3829-164A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181755073 | ||||||
| chr1:181755171
|
C | A | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3829-66C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 27/47 | chr1 | 181755171 | ||||||
| chr1:181755413
|
G | A | 1 | a0012c0016t0055g0156 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3989+16G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/47 | chr1 | 181755413 | ||||||
| chr1:181755449
|
A | T | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3989+52A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/47 | chr1 | 181755449 | ||||||
| chr1:181755546
|
T | C | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3989+149T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/47 | chr1 | 181755546 | ||||||
| chr1:181755600
|
G | A | 4 | a0001c0001t0010g0028a0001c0001t0019g0034a0001c0001t0019g0052others(1): Show | 4 | HG02630.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.3989+203G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/47 | chr1 | 181755600 | ||||||
| chr1:181755878
|
G | A | 1 | a0001c0001t0011g0038 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3990-78G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 28/47 | chr1 | 181755878 | ||||||
| chr1:181756555
|
G | A | 3 | a0001c0001t0006g0042a0001c0001t0006g0151a0001c0001t0006g0183 | 3 | HG00438.hp1 HG02015.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.4128-370G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 29/47 | chr1 | 181756555 | ||||||
| chr1:181756649
|
G | A | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4128-276G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 29/47 | chr1 | 181756649 | ||||||
| chr1:181757140
|
G | A | 3 | a0001c0001t0066g0070a0001c0024t0067g0004a0002c0002t0050g0197 | 3 | HG02965.hp2 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4329+14G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 30/47 | chr1 | 181757140 | ||||||
| chr1:181757277
|
G | A | 161 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(158): Show | 161 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.4329+151G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 30/47 | chr1 | 181757277 | ||||||
| chr1:181757497
|
C | T | 4 | a0001c0004t0010g0067a0001c0004t0036g0062a0001c0009t0040g0141others(1): Show | 4 | HG02258.hp2 HG02280.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.4329+371C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 30/47 | chr1 | 181757497 | ||||||
| chr1:181757894
|
A | T | 70 | a0001c0001t0065g0173a0001c0004t0001g0186a0001c0004t0002g0071others(67): Show | 70 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(67): Show |
intron_variant | MODIFIER | c.4330-53A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 30/47 | chr1 | 181757894 | ||||||
| chr1:181758121
|
G | C | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4494+10G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 31/47 | chr1 | 181758121 | ||||||
| chr1:181758137
|
G | A | 54 | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0004g0146others(51): Show | 54 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.4494+26G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 31/47 | chr1 | 181758137 | ||||||
| chr1:181758374
|
T | G | 3 | a0001c0001t0066g0070a0001c0024t0067g0004a0002c0002t0050g0197 | 3 | HG02965.hp2 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4494+263T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 31/47 | chr1 | 181758374 | ||||||
| chr1:181758457
|
T | C | 165 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(162): Show | 165 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.4495-301T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 31/47 | chr1 | 181758457 | ||||||
| chr1:181758525
|
G | C | 62 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(59): Show | 62 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.4495-233G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 31/47 | chr1 | 181758525 | ||||||
| chr1:181758880
|
A | C | 5 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(2): Show | 5 | HG01074.hp2 HG02630.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.4605+12A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181758880 | ||||||
| chr1:181758926
|
C | T | 1 | a0001c0001t0065g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4605+58C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181758926 | ||||||
| chr1:181758990
|
G | A | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4605+122G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181758990 | ||||||
| chr1:181759244
|
T | C | 1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4605+376T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181759244 | ||||||
| chr1:181759395
|
C | CTG | 62 | a0001c0001t0002g0195a0001c0001t0007g0154a0001c0001t0011g0038others(59): Show | 62 | HG00408.hp2 HG00597.hp2 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.4605+557_4605+558d others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759395
|
C | CTGTG | 63 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0004g0146others(60): Show | 63 | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(60): Show |
intron_variant | MODIFIER | c.4605+555_4605+558d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759395
|
C | CTGTGTG | 7 | a0001c0001t0009g0135a0002c0002t0003g0043a0002c0002t0013g0162others(4): Show | 7 | HG01069.hp2 HG02602.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.4605+553_4605+558d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759395
|
C | CTGTGTGT others(1): Show |
2 | a0003c0010t0002g0035a0003c0010t0002g0113 | 2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.4605+551_4605+558d others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759395
|
C | CTGTGTGT others(7): Show |
1 | a0005c0027t0027g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4605+545_4605+558d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759395
|
C | CTGTGTGT others(15): Show |
1 | a0005c0013t0020g0194 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4605+537_4605+558d others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181759395 | |||||
| chr1:181759495
|
A | G | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4605+627A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181759495 | ||||||
| chr1:181759719
|
C | T | 1 | a0001c0004t0002g0199 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.4605+851C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181759719 | ||||||
| chr1:181759863
|
G | A | 63 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(60): Show | 63 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.4605+995G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181759863 | ||||||
| chr1:181759943
|
A | C | 63 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(60): Show | 63 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.4605+1075A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181759943 | ||||||
| chr1:181760096
|
GCAC | G | 2 | a0001c0001t0002g0126a0001c0026t0042g0025 | 2 | HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4605+1232_4605+123 others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181760096 | |||||
| chr1:181760134
|
AC | A | 3 | a0001c0001t0025g0057a0001c0001t0052g0081a0001c0006t0025g0111 | 3 | HG01891.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4605+1267delC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181760134 | ||||||
| chr1:181760148
|
T | C | 1 | a0001c0001t0002g0195 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4605+1280T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181760148 | ||||||
| chr1:181760201
|
G | A | 3 | a0001c0001t0066g0070a0001c0024t0067g0004a0002c0002t0050g0197 | 3 | HG02965.hp2 HG02976.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.4605+1333G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181760201 | ||||||
| chr1:181760202
|
A | AAT | 2 | a0001c0001t0002g0195a0001c0001t0024g0112 | 2 | HG01109.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.4605+1340_4605+134 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181760202 | |||||
| chr1:181760309
|
G | C | 1 | a0004c0007t0001g0171 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4605+1441G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181760309 | ||||||
| chr1:181760978
|
T | G | 1 | a0003c0003t0001g0200 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.4606-1596T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181760978 | ||||||
| chr1:181761090
|
A | G | 164 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(161): Show | 164 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(161): Show |
intron_variant | MODIFIER | c.4606-1484A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181761090 | ||||||
| chr1:181761376
|
G | A | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4606-1198G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181761376 | ||||||
| chr1:181761970
|
T | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4606-604T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181761970 | ||||||
| chr1:181762171
|
C | G | 1 | a0001c0006t0002g0205 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.4606-403C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181762171 | ||||||
| chr1:181762531
|
T | TC | 65 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(62): Show | 65 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.4606-42dupC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | 181762531 | |||||
| chr1:181762537
|
C | A | 1 | a0002c0002t0002g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.4606-37C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181762537 | ||||||
| chr1:181762567
|
T | C | 5 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0001t0066g0070others(2): Show | 5 | HG02965.hp2 HG02976.hp2 HG03195.hp1 others(2): Show |
splice_region_variant&intron_variant | LOW | c.4606-7T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | chr1 | 181762567 | ||||||
| chr1:181762804
|
A | G | 2 | a0002c0002t0021g0010a0002c0002t0021g0115 | 2 | HG00639.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4689+147A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 33/47 | chr1 | 181762804 | ||||||
| chr1:181763165
|
T | G | 1 | a0001c0004t0002g0160 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4690-241T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 33/47 | chr1 | 181763165 | ||||||
| chr1:181763559
|
A | G | 66 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(63): Show | 66 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.4815+28A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181763559 | ||||||
| chr1:181763748
|
T | C | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+217T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181763748 | ||||||
| chr1:181763768
|
G | A | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.4815+237G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181763768 | ||||||
| chr1:181763800
|
A | G | 10 | a0001c0001t0001g0166a0001c0001t0003g0130a0001c0001t0003g0134others(7): Show | 10 | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(7): Show |
intron_variant | MODIFIER | c.4815+269A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181763800 | ||||||
| chr1:181764124
|
T | C | 66 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(63): Show | 66 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.4815+593T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764124 | ||||||
| chr1:181764162
|
T | C | 7 | a0001c0001t0004g0146a0001c0001t0005g0015a0001c0001t0005g0086others(4): Show | 7 | HG00408.hp1 HG02300.hp2 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.4815+631T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764162 | ||||||
| chr1:181764286
|
G | A | 9 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(6): Show | 9 | HG00438.hp2 HG00673.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.4815+755G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764286 | ||||||
| chr1:181764341
|
G | A | 4 | a0001c0001t0017g0045a0001c0001t0017g0046a0002c0002t0003g0051others(1): Show | 4 | HG00597.hp2 HG01258.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.4815+810G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764341 | ||||||
| chr1:181764563
|
A | C | 1 | a0001c0001t0001g0166 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4815+1032A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764563 | ||||||
| chr1:181764601
|
C | G | 14 | a0001c0001t0002g0126a0001c0001t0004g0146a0001c0001t0005g0015others(11): Show | 14 | HG00408.hp1 HG02300.hp2 HG02698.hp2 others(11): Show |
intron_variant | MODIFIER | c.4815+1070C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764601 | ||||||
| chr1:181764638
|
C | T | 2 | a0003c0003t0061g0059a0003c0014t0069g0196 | 2 | HG01884.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4815+1107C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764638 | ||||||
| chr1:181764704
|
A | C | 66 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(63): Show | 66 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.4815+1173A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764704 | ||||||
| chr1:181764784
|
C | CA | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4815+1253_4815+125 others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764784 | ||||||
| chr1:181764784
|
CT | C | 9 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(6): Show | 9 | HG00438.hp2 HG00673.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.4815+1263delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr1 | 181764784 | |||||
| chr1:181764923
|
T | A | 14 | a0001c0001t0002g0126a0001c0001t0004g0146a0001c0001t0005g0015others(11): Show | 14 | HG00408.hp1 HG02300.hp2 HG02698.hp2 others(11): Show |
intron_variant | MODIFIER | c.4815+1392T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181764923 | ||||||
| chr1:181765004
|
G | A | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4815+1473G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765004 | ||||||
| chr1:181765129
|
G | C | 5 | a0001c0005t0018g0061a0001c0005t0030g0150a0001c0005t0030g0178others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4816-1417G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765129 | ||||||
| chr1:181765148
|
ACCTCCCC others(3): Show |
A | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4816-1391_4816-138 others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr1 | 181765148 | |||||
| chr1:181765168
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4816-1378A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765168 | ||||||
| chr1:181765326
|
G | A | 2 | a0001c0001t0025g0057a0001c0006t0025g0111 | 2 | NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4816-1220G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765326 | ||||||
| chr1:181765464
|
C | T | 61 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(58): Show | 61 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.4816-1082C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765464 | ||||||
| chr1:181765652
|
G | A | 4 | a0001c0001t0004g0146a0001c0001t0005g0086a0001c0001t0005g0089others(1): Show | 4 | HG00408.hp1 HG02300.hp2 NA18968.hp2 others(1): Show |
intron_variant | MODIFIER | c.4816-894G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765652 | ||||||
| chr1:181765753
|
C | T | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4816-793C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765753 | ||||||
| chr1:181765786
|
T | A | 1 | a0001c0001t0005g0089 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.4816-760T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765786 | ||||||
| chr1:181765810
|
C | T | 1 | a0002c0002t0003g0161 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4816-736C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765810 | ||||||
| chr1:181765834
|
C | G | 41 | a0001c0004t0010g0067a0001c0004t0036g0062a0001c0009t0018g0041others(38): Show | 41 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.4816-712C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765834 | ||||||
| chr1:181765897
|
A | G | 36 | a0003c0003t0001g0009a0003c0003t0001g0012a0003c0003t0001g0033others(33): Show | 36 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.4816-649A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765897 | ||||||
| chr1:181765908
|
G | A | 61 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(58): Show | 61 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.4816-638G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765908 | ||||||
| chr1:181765931
|
T | C | 1 | a0001c0001t0017g0046 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.4816-615T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765931 | ||||||
| chr1:181765995
|
G | A | 9 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(6): Show | 9 | HG00438.hp2 HG00673.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.4816-551G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181765995 | ||||||
| chr1:181766010
|
T | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4816-536T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766010 | ||||||
| chr1:181766088
|
C | T | 1 | a0001c0001t0005g0015 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4816-458C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766088 | ||||||
| chr1:181766282
|
G | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4816-264G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766282 | ||||||
| chr1:181766310
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.4816-236C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766310 | ||||||
| chr1:181766476
|
G | C | 2 | a0001c0005t0024g0003a0008c0028t0068g0055 | 2 | HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.4816-70G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766476 | ||||||
| chr1:181766516
|
A | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4816-30A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 34/47 | chr1 | 181766516 | ||||||
| chr1:181766684
|
A | G | 1 | a0003c0003t0001g0147 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.4881+73A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181766684 | ||||||
| chr1:181766920
|
A | G | 1 | a0001c0020t0031g0074 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.4881+309A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181766920 | ||||||
| chr1:181767053
|
A | G | 76 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(73): Show | 76 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(73): Show |
intron_variant | MODIFIER | c.4881+442A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181767053 | ||||||
| chr1:181767150
|
T | G | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.4881+539T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181767150 | ||||||
| chr1:181767331
|
T | C | 5 | a0001c0001t0011g0038a0001c0001t0011g0068a0001c0001t0011g0092others(2): Show | 5 | HG01358.hp2 HG01361.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.4881+720T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181767331 | ||||||
| chr1:181767490
|
G | A | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.4881+879G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181767490 | ||||||
| chr1:181767511
|
T | C | 66 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(63): Show | 66 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.4881+900T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181767511 | ||||||
| chr1:181768084
|
T | A | 4 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(1): Show | 4 | HG00323.hp1 HG00642.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.4881+1473T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181768084 | ||||||
| chr1:181769005
|
G | A | 2 | a0001c0009t0018g0041a0007c0019t0041g0116 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4882-2288G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769005 | ||||||
| chr1:181769012
|
C | T | 2 | a0003c0003t0061g0059a0003c0014t0069g0196 | 2 | HG01884.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.4882-2281C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769012 | ||||||
| chr1:181769039
|
G | A | 10 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(7): Show | 10 | HG00438.hp2 HG00673.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.4882-2254G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769039 | ||||||
| chr1:181769171
|
A | G | 2 | a0001c0005t0026g0031a0001c0005t0071g0110 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.4882-2122A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769171 | ||||||
| chr1:181769199
|
T | C | 10 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(7): Show | 10 | HG00438.hp2 HG00673.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.4882-2094T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769199 | ||||||
| chr1:181769325
|
T | C | 1 | a0002c0002t0003g0157 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.4882-1968T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769325 | ||||||
| chr1:181769351
|
GA | G | 79 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(76): Show | 79 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(76): Show |
intron_variant | MODIFIER | c.4882-1928delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr1 | 181769351 | |||||
| chr1:181769444
|
G | GT | 6 | a0001c0005t0024g0003a0001c0009t0018g0041a0005c0013t0020g0194others(3): Show | 6 | HG02257.hp2 HG02717.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.4882-1837dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr1 | 181769444 | |||||
| chr1:181769572
|
G | C | 77 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(74): Show | 77 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.4882-1721G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769572 | ||||||
| chr1:181769603
|
AAAAT | A | 63 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(60): Show | 63 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.4882-1684_4882-168 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr1 | 181769603 | |||||
| chr1:181769955
|
G | T | 159 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(156): Show | 159 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.4882-1338G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769955 | ||||||
| chr1:181769995
|
G | C | 2 | a0001c0004t0002g0199a0009c0021t0002g0098 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.4882-1298G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181769995 | ||||||
| chr1:181770368
|
C | A | 61 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(58): Show | 61 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.4882-925C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770368 | ||||||
| chr1:181770569
|
G | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4882-724G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770569 | ||||||
| chr1:181770665
|
C | T | 61 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(58): Show | 61 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.4882-628C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770665 | ||||||
| chr1:181770679
|
T | C | 1 | a0001c0001t0005g0086 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4882-614T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770679 | ||||||
| chr1:181770859
|
C | G | 5 | a0001c0001t0007g0121a0001c0001t0007g0136a0001c0001t0007g0154others(2): Show | 5 | HG01243.hp2 HG01358.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.4882-434C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770859 | ||||||
| chr1:181770865
|
T | C | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4882-428T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181770865 | ||||||
| chr1:181771065
|
T | C | 155 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(152): Show | 155 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(152): Show |
intron_variant | MODIFIER | c.4882-228T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 35/47 | chr1 | 181771065 | ||||||
| chr1:181771607
|
A | G | 63 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(60): Show | 63 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.4973+223A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 36/47 | chr1 | 181771607 | ||||||
| chr1:181771732
|
G | C | 1 | a0002c0002t0050g0197 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4974-334G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 36/47 | chr1 | 181771732 | ||||||
| chr1:181771788
|
A | G | 65 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(62): Show | 65 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.4974-278A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 36/47 | chr1 | 181771788 | ||||||
| chr1:181771867
|
A | T | 1 | a0003c0003t0022g0177 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4974-199A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 36/47 | chr1 | 181771867 | ||||||
| chr1:181772297
|
C | A | 6 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(3): Show | 6 | HG01069.hp2 HG01074.hp1 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.5139+66C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181772297 | ||||||
| chr1:181772562
|
G | A | 89 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(86): Show | 89 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.5139+331G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181772562 | ||||||
| chr1:181772635
|
C | G | 2 | a0005c0013t0020g0194a0005c0027t0027g0174 | 2 | HG02922.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5139+404C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181772635 | ||||||
| chr1:181772675
|
C | A | 12 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(9): Show | 12 | HG00438.hp2 HG00673.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.5139+444C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181772675 | ||||||
| chr1:181773308
|
A | C | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5139+1077A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181773308 | ||||||
| chr1:181773344
|
A | T | 2 | a0001c0001t0002g0126a0001c0026t0042g0025 | 2 | HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5139+1113A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181773344 | ||||||
| chr1:181773457
|
T | C | 1 | a0005c0027t0027g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.5139+1226T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181773457 | ||||||
| chr1:181773545
|
C | A | 2 | a0002c0002t0007g0069a0002c0002t0035g0145 | 2 | HG00741.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.5139+1314C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181773545 | ||||||
| chr1:181773631
|
G | T | 61 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(58): Show | 61 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.5139+1400G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181773631 | ||||||
| chr1:181774035
|
T | C | 2 | a0002c0002t0003g0084a0002c0002t0044g0053 | 2 | NA18964.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.5139+1804T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181774035 | ||||||
| chr1:181774086
|
G | A | 1 | a0001c0026t0042g0025 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5139+1855G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181774086 | ||||||
| chr1:181774256
|
C | T | 3 | a0001c0001t0016g0181a0002c0002t0007g0090a0002c0002t0007g0094 | 3 | HG01361.hp1 HG02273.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.5140-1845C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181774256 | ||||||
| chr1:181774657
|
GA | G | 3 | a0001c0004t0008g0032a0001c0004t0008g0122a0005c0013t0020g0194 | 3 | HG03098.hp2 HG03209.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5140-1442delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr1 | 181774657 | |||||
| chr1:181775229
|
G | A | 2 | a0002c0002t0007g0090a0002c0002t0007g0094 | 2 | HG01361.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.5140-872G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775229 | ||||||
| chr1:181775382
|
T | C | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.5140-719T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775382 | ||||||
| chr1:181775622
|
A | C | 3 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0009t0018g0041 | 3 | HG02257.hp2 HG03195.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5140-479A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775622 | ||||||
| chr1:181775663
|
GA | G | 25 | a0001c0001t0001g0166a0001c0001t0003g0130a0001c0001t0003g0134others(22): Show | 25 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(22): Show |
intron_variant | MODIFIER | c.5140-435delA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr1 | 181775663 | |||||
| chr1:181775681
|
A | T | 12 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(9): Show | 12 | HG00438.hp2 HG00673.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.5140-420A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775681 | ||||||
| chr1:181775725
|
C | T | 1 | a0001c0004t0010g0067 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5140-376C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775725 | ||||||
| chr1:181775846
|
A | G | 2 | a0002c0002t0021g0010a0002c0002t0021g0115 | 2 | HG00639.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.5140-255A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181775846 | ||||||
| chr1:181776049
|
T | C | 2 | a0001c0001t0048g0054a0001c0009t0018g0041 | 2 | HG02257.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5140-52T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 37/47 | chr1 | 181776049 | ||||||
| chr1:181776444
|
G | A | 62 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(59): Show | 62 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.5267+216G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776444 | ||||||
| chr1:181776565
|
C | A | 5 | a0001c0006t0002g0205a0001c0006t0004g0014a0001c0006t0004g0019others(2): Show | 5 | HG00323.hp2 HG00639.hp1 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.5267+337C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776565 | ||||||
| chr1:181776572
|
T | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.5267+344T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776572 | ||||||
| chr1:181776682
|
T | C | 4 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0019g0034others(1): Show | 4 | HG01074.hp2 HG03516.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.5267+454T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776682 | ||||||
| chr1:181776811
|
G | A | 1 | a0002c0002t0028g0021 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.5267+583G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776811 | ||||||
| chr1:181776826
|
T | C | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5267+598T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776826 | ||||||
| chr1:181776962
|
G | A | 2 | a0003c0003t0001g0009a0003c0003t0001g0096 | 2 | HG00642.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.5267+734G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181776962 | ||||||
| chr1:181777771
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5267+1543G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181777771 | ||||||
| chr1:181778039
|
C | T | 3 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0009t0018g0041 | 3 | HG02257.hp2 HG03195.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5267+1811C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778039 | ||||||
| chr1:181778194
|
A | AC | 3 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0009t0018g0041 | 3 | HG02257.hp2 HG03195.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5267+1967dupC | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181778194 | |||||
| chr1:181778213
|
G | A | 62 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(59): Show | 62 | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.5267+1985G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778213 | ||||||
| chr1:181778226
|
G | A | 3 | a0001c0001t0074g0109a0001c0005t0024g0003a0008c0028t0068g0055 | 3 | HG02559.hp2 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.5267+1998G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778226 | ||||||
| chr1:181778236
|
A | G | 2 | a0001c0005t0018g0061a0007c0019t0041g0116 | 2 | HG01891.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.5267+2008A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778236 | ||||||
| chr1:181778274
|
C | A | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5267+2046C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778274 | ||||||
| chr1:181778279
|
C | T | 1 | a0003c0003t0072g0066 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.5267+2051C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778279 | ||||||
| chr1:181778504
|
A | G | 1 | a0001c0005t0026g0031 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5267+2276A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778504 | ||||||
| chr1:181778718
|
A | G | 3 | a0001c0001t0048g0054a0001c0001t0065g0173a0001c0009t0018g0041 | 3 | HG02257.hp2 HG03195.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5267+2490A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778718 | ||||||
| chr1:181778783
|
C | T | 1 | a0002c0002t0003g0043 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.5267+2555C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778783 | ||||||
| chr1:181778784
|
T | A | 2 | a0001c0004t0010g0067a0001c0004t0036g0062 | 2 | HG02280.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5267+2556T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181778784 | ||||||
| chr1:181779174
|
A | C | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5268-2253A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779174 | ||||||
| chr1:181779572
|
G | A | 1 | a0003c0003t0001g0106 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.5268-1855G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779572 | ||||||
| chr1:181779646
|
G | A | 1 | a0010c0023t0077g0008 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.5268-1781G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779646 | ||||||
| chr1:181779676
|
A | G | 1 | a0004c0007t0023g0011 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.5268-1751A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779676 | ||||||
| chr1:181779698
|
G | A | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5268-1729G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779698 | ||||||
| chr1:181779819
|
T | TAC | 9 | a0001c0001t0004g0078a0001c0001t0014g0142a0001c0005t0032g0029others(6): Show | 9 | HG00323.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.5268-1578_5268-157 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACAC | 2 | a0001c0006t0004g0102a0003c0003t0061g0059 | 2 | HG00639.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.5268-1580_5268-157 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACAC | 4 | a0001c0004t0036g0062a0003c0003t0001g0033a0004c0007t0001g0016others(1): Show | 4 | HG01071.hp1 HG01258.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.5268-1582_5268-157 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(1): Show |
28 | a0001c0004t0002g0071a0001c0024t0067g0004a0003c0003t0001g0009others(25): Show | 28 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.5268-1584_5268-157 others(12): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(3): Show |
6 | a0001c0004t0010g0067a0001c0004t0031g0095a0001c0005t0018g0061others(3): Show | 6 | HG01891.hp2 HG01978.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.5268-1586_5268-157 others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(5): Show |
1 | a0001c0022t0056g0176 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.5268-1588_5268-157 others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(7): Show |
3 | a0001c0004t0016g0198a0001c0004t0045g0047a0001c0004t0054g0018 | 3 | HG02071.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5268-1590_5268-157 others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(9): Show |
10 | a0001c0004t0001g0186a0001c0004t0002g0101a0001c0004t0002g0160others(7): Show | 10 | HG00323.hp1 HG00642.hp1 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.5268-1592_5268-157 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
T | TACACACA others(11): Show |
3 | a0001c0004t0004g0072a0001c0004t0008g0032a0001c0004t0008g0122 | 3 | HG01099.hp2 HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5268-1594_5268-157 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
TAC | T | 88 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0004g0146others(85): Show | 88 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.5268-1578_5268-157 others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
TACAC | T | 4 | a0001c0001t0064g0013a0001c0009t0018g0041a0003c0003t0001g0147others(1): Show | 4 | HG02257.hp2 HG03471.hp1 HG03669.hp1 others(1): Show |
intron_variant | MODIFIER | c.5268-1580_5268-157 others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779819
|
TACACAC | T | 2 | a0001c0001t0005g0089a0002c0002t0003g0051 | 2 | HG00597.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.5268-1582_5268-157 others(10): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | 181779819 | |||||
| chr1:181779856
|
A | C | 51 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0008g0179others(48): Show | 51 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.5268-1571A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779856 | ||||||
| chr1:181779878
|
A | G | 1 | a0001c0001t0064g0013 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5268-1549A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181779878 | ||||||
| chr1:181780031
|
C | T | 63 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(60): Show | 63 | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.5268-1396C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780031 | ||||||
| chr1:181780422
|
A | G | 1 | a0002c0030t0079g0006 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.5268-1005A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780422 | ||||||
| chr1:181780463
|
G | T | 1 | a0001c0005t0026g0031 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5268-964G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780463 | ||||||
| chr1:181780502
|
T | C | 51 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0008g0179others(48): Show | 51 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.5268-925T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780502 | ||||||
| chr1:181780638
|
C | T | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5268-789C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780638 | ||||||
| chr1:181780844
|
G | A | 2 | a0001c0001t0064g0013a0001c0009t0078g0040 | 2 | HG02258.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.5268-583G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780844 | ||||||
| chr1:181780953
|
A | T | 2 | a0001c0005t0018g0061a0007c0019t0041g0116 | 2 | HG01891.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.5268-474A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181780953 | ||||||
| chr1:181781147
|
G | C | 1 | a0003c0003t0001g0009 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.5268-280G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181781147 | ||||||
| chr1:181781242
|
C | T | 1 | a0002c0002t0003g0201 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5268-185C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181781242 | ||||||
| chr1:181781333
|
G | T | 54 | a0001c0001t0007g0121a0001c0001t0007g0136a0001c0001t0007g0154others(51): Show | 54 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.5268-94G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | chr1 | 181781333 | ||||||
| chr1:181781796
|
T | C | 50 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(47): Show | 50 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.5364+273T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181781796 | ||||||
| chr1:181781965
|
G | A | 54 | a0001c0001t0007g0121a0001c0001t0007g0136a0001c0001t0007g0154others(51): Show | 54 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.5364+442G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181781965 | ||||||
| chr1:181781979
|
A | T | 1 | a0002c0002t0010g0024 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.5364+456A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181781979 | ||||||
| chr1:181782021
|
G | A | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5364+498G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782021 | ||||||
| chr1:181782080
|
A | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5364+557A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782080 | ||||||
| chr1:181782275
|
G | A | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5364+752G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782275 | ||||||
| chr1:181782463
|
T | C | 5 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203others(2): Show | 5 | HG01517.hp2 HG02698.hp1 HG03669.hp2 others(2): Show |
intron_variant | MODIFIER | c.5364+940T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782463 | ||||||
| chr1:181782521
|
T | A | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5364+998T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782521 | ||||||
| chr1:181782717
|
G | C | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5365-962G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782717 | ||||||
| chr1:181782757
|
C | T | 1 | a0001c0005t0026g0031 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5365-922C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782757 | ||||||
| chr1:181782875
|
G | C | 1 | a0001c0005t0071g0110 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5365-804G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181782875 | ||||||
| chr1:181783393
|
A | T | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5365-286A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783393 | ||||||
| chr1:181783423
|
C | G | 1 | a0010c0023t0077g0008 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.5365-256C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783423 | ||||||
| chr1:181783478
|
TACA | T | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5365-184_5365-182d others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | INFO_REALIGN_3_PRIME | chr1 | 181783478 | |||||
| chr1:181783481
|
A | T | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5365-198A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783481 | ||||||
| chr1:181783578
|
C | T | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5365-101C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783578 | ||||||
| chr1:181783599
|
C | T | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5365-80C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783599 | ||||||
| chr1:181783633
|
A | AT | 77 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0003g0130others(74): Show | 77 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.5365-32dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | INFO_REALIGN_3_PRIME | chr1 | 181783633 | |||||
| chr1:181783633
|
AT | A | 5 | a0001c0001t0002g0195a0001c0001t0024g0112a0001c0001t0025g0057others(2): Show | 5 | HG01109.hp1 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.5365-32delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | INFO_REALIGN_3_PRIME | chr1 | 181783633 | |||||
| chr1:181783647
|
T | G | 1 | a0003c0003t0060g0079 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5365-32T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | chr1 | 181783647 | ||||||
| chr1:181783647
|
T | TG | 49 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(46): Show | 49 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(46): Show |
intron_variant | MODIFIER | c.5365-31dupG | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | INFO_REALIGN_3_PRIME | chr1 | 181783647 | |||||
| chr1:181783787
|
AAGCTT | A | 165 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(162): Show | 165 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.5470+11_5470+15del others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr1 | 181783787 | |||||
| chr1:181783894
|
T | C | 138 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0003g0044others(135): Show | 138 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(135): Show |
intron_variant | MODIFIER | c.5470+110T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 40/47 | chr1 | 181783894 | ||||||
| chr1:181783943
|
C | T | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.5470+159C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 40/47 | chr1 | 181783943 | ||||||
| chr1:181784897
|
G | A | 2 | a0001c0005t0030g0150a0001c0005t0030g0178 | 2 | HG02615.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.5578+129G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181784897 | ||||||
| chr1:181784914
|
A | G | 14 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(11): Show | 14 | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.5578+146A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181784914 | ||||||
| chr1:181784923
|
A | C | 64 | a0001c0001t0002g0126a0001c0001t0003g0044a0001c0001t0003g0130others(61): Show | 64 | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(61): Show |
intron_variant | MODIFIER | c.5578+155A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181784923 | ||||||
| chr1:181785124
|
G | A | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5579-194G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181785124 | ||||||
| chr1:181785169
|
G | T | 1 | a0001c0001t0010g0028 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5579-149G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181785169 | ||||||
| chr1:181785178
|
G | C | 50 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(47): Show | 50 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.5579-140G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 41/47 | chr1 | 181785178 | ||||||
| chr1:181785428
|
A | C | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5679+10A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 42/47 | chr1 | 181785428 | ||||||
| chr1:181785610
|
G | A | 1 | a0001c0001t0009g0135 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5680-103G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 42/47 | chr1 | 181785610 | ||||||
| chr1:181785667
|
C | T | 50 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(47): Show | 50 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.5680-46C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 42/47 | chr1 | 181785667 | ||||||
| chr1:181786348
|
C | T | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5786+529C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181786348 | ||||||
| chr1:181786678
|
C | T | 5 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(2): Show | 5 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.5786+859C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181786678 | ||||||
| chr1:181786818
|
C | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5786+999C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181786818 | ||||||
| chr1:181786818
|
C | T | 1 | a0001c0009t0078g0040 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5786+999C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181786818 | ||||||
| chr1:181786968
|
A | T | 2 | a0001c0005t0018g0061a0007c0019t0041g0116 | 2 | HG01891.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.5786+1149A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181786968 | ||||||
| chr1:181787206
|
G | A | 12 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(9): Show | 12 | HG02132.hp1 HG02135.hp1 HG02698.hp2 others(9): Show |
intron_variant | MODIFIER | c.5786+1387G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787206 | ||||||
| chr1:181787331
|
C | T | 1 | a0002c0002t0029g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5786+1512C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787331 | ||||||
| chr1:181787348
|
G | A | 1 | a0008c0028t0068g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5786+1529G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787348 | ||||||
| chr1:181787645
|
G | A | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0064g0013others(4): Show | 7 | HG01074.hp2 HG02258.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5786+1826G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787645 | ||||||
| chr1:181787664
|
G | A | 1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5786+1845G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787664 | ||||||
| chr1:181787683
|
C | T | 3 | a0002c0002t0021g0010a0002c0002t0021g0115a0012c0016t0055g0156 | 3 | HG00639.hp2 HG01169.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5786+1864C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787683 | ||||||
| chr1:181787690
|
G | A | 1 | a0003c0003t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5786+1871G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787690 | ||||||
| chr1:181787807
|
A | G | 1 | a0002c0002t0021g0010 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.5786+1988A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181787807 | ||||||
| chr1:181788043
|
G | A | 2 | a0001c0001t0019g0034a0001c0001t0019g0052 | 2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5786+2224G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788043 | ||||||
| chr1:181788051
|
T | G | 9 | a0002c0002t0002g0138a0002c0002t0002g0139a0002c0002t0002g0140others(6): Show | 9 | HG00408.hp2 HG01934.hp1 HG02071.hp2 others(6): Show |
intron_variant | MODIFIER | c.5786+2232T>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788051 | ||||||
| chr1:181788142
|
G | C | 2 | a0001c0001t0064g0013a0001c0009t0078g0040 | 2 | HG02258.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.5787-2303G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788142 | ||||||
| chr1:181788179
|
A | G | 72 | a0001c0001t0003g0044a0001c0001t0004g0146a0001c0001t0005g0172others(69): Show | 72 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(69): Show |
intron_variant | MODIFIER | c.5787-2266A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788179 | ||||||
| chr1:181788253
|
G | A | 10 | a0001c0004t0001g0186a0001c0004t0002g0101a0001c0004t0002g0160others(7): Show | 10 | HG00323.hp1 HG00642.hp1 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.5787-2192G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788253 | ||||||
| chr1:181788336
|
C | T | 2 | a0001c0001t0017g0045a0001c0001t0017g0046 | 2 | HG01258.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.5787-2109C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788336 | ||||||
| chr1:181788371
|
T | C | 14 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(11): Show | 14 | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.5787-2074T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788371 | ||||||
| chr1:181788405
|
A | C | 9 | a0001c0001t0002g0195a0001c0001t0019g0034a0001c0001t0019g0052others(6): Show | 9 | HG01109.hp1 HG02451.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.5787-2040A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788405 | ||||||
| chr1:181788498
|
A | T | 11 | a0001c0001t0002g0195a0001c0001t0019g0034a0001c0001t0019g0052others(8): Show | 11 | HG01109.hp1 HG02451.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.5787-1947A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788498 | ||||||
| chr1:181788621
|
A | G | 1 | a0001c0001t0014g0142 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.5787-1824A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788621 | ||||||
| chr1:181788729
|
G | A | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5787-1716G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788729 | ||||||
| chr1:181788741
|
T | C | 1 | a0002c0002t0035g0145 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.5787-1704T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788741 | ||||||
| chr1:181788760
|
C | T | 1 | a0001c0001t0074g0109 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5787-1685C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788760 | ||||||
| chr1:181788803
|
T | A | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5787-1642T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788803 | ||||||
| chr1:181788949
|
C | T | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0064g0013others(4): Show | 7 | HG01074.hp2 HG02258.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5787-1496C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788949 | ||||||
| chr1:181788972
|
C | A | 1 | a0001c0001t0017g0046 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.5787-1473C>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788972 | ||||||
| chr1:181788996
|
C | T | 1 | a0001c0001t0003g0044 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.5787-1449C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181788996 | ||||||
| chr1:181789034
|
AT | A | 165 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(162): Show | 165 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(162): Show |
intron_variant | MODIFIER | c.5787-1403delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | INFO_REALIGN_3_PRIME | chr1 | 181789034 | |||||
| chr1:181789069
|
C | T | 1 | a0001c0005t0024g0003 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5787-1376C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789069 | ||||||
| chr1:181789195
|
A | G | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5787-1250A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789195 | ||||||
| chr1:181789212
|
T | C | 14 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(11): Show | 14 | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.5787-1233T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789212 | ||||||
| chr1:181789249
|
T | C | 7 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0001t0064g0013others(4): Show | 7 | HG01074.hp2 HG02258.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5787-1196T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789249 | ||||||
| chr1:181789272
|
G | A | 1 | a0006c0018t0001g0056 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.5787-1173G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789272 | ||||||
| chr1:181789380
|
A | G | 11 | a0001c0004t0001g0186a0001c0004t0002g0071a0001c0004t0002g0101others(8): Show | 11 | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.5787-1065A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789380 | ||||||
| chr1:181789505
|
C | T | 4 | a0001c0005t0024g0003a0001c0005t0030g0150a0001c0005t0030g0178others(1): Show | 4 | HG02615.hp1 HG03139.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.5787-940C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789505 | ||||||
| chr1:181789727
|
T | C | 2 | a0001c0012t0029g0163a0001c0012t0038g0002 | 2 | HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5787-718T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789727 | ||||||
| chr1:181789787
|
G | T | 12 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(9): Show | 12 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.5787-658G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789787 | ||||||
| chr1:181789987
|
G | A | 1 | a0006c0018t0001g0056 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.5787-458G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181789987 | ||||||
| chr1:181790012
|
G | A | 1 | a0001c0001t0008g0179 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.5787-433G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790012 | ||||||
| chr1:181790026
|
T | C | 7 | a0001c0008t0008g0030a0001c0008t0008g0039a0001c0008t0008g0164others(4): Show | 7 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.5787-419T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790026 | ||||||
| chr1:181790116
|
C | T | 50 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0009g0049others(47): Show | 50 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(47): Show |
intron_variant | MODIFIER | c.5787-329C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790116 | ||||||
| chr1:181790281
|
C | G | 22 | a0001c0001t0059g0107a0003c0003t0001g0012a0003c0003t0001g0076others(19): Show | 22 | HG00609.hp1 HG00673.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.5787-164C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790281 | ||||||
| chr1:181790290
|
C | CT | 8 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0005t0032g0029others(5): Show | 8 | HG01074.hp2 HG01175.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.5787-138dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | INFO_REALIGN_3_PRIME | chr1 | 181790290 | |||||
| chr1:181790307
|
T | A | 2 | a0001c0004t0045g0047a0009c0021t0002g0098 | 2 | HG00323.hp1 HG02071.hp1 |
intron_variant | MODIFIER | c.5787-138T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790307 | ||||||
| chr1:181790307
|
T | TA | 22 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(19): Show | 22 | HG00408.hp1 HG00642.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.5787-136dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | INFO_REALIGN_3_PRIME | chr1 | 181790307 | |||||
| chr1:181790307
|
T | TTA | 16 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(13): Show | 16 | HG00438.hp2 HG00673.hp2 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.5787-138_5787-137i others(4): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790307 | ||||||
| chr1:181790307
|
T | TTTA | 39 | a0001c0001t0052g0081a0001c0001t0059g0107a0001c0005t0018g0061others(36): Show | 39 | HG00609.hp1 HG00642.hp2 HG00673.hp1 others(36): Show |
intron_variant | MODIFIER | c.5787-138_5787-137i others(5): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790307 | ||||||
| chr1:181790322
|
C | G | 2 | a0001c0005t0032g0029a0001c0005t0032g0099 | 2 | HG02723.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5787-123C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790322 | ||||||
| chr1:181790337
|
T | A | 55 | a0001c0001t0003g0044a0001c0001t0005g0172a0001c0001t0007g0121others(52): Show | 55 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(52): Show |
intron_variant | MODIFIER | c.5787-108T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 43/47 | chr1 | 181790337 | ||||||
| chr1:181790566
|
T | C | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5898+10T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181790566 | ||||||
| chr1:181790753
|
A | G | 8 | a0002c0002t0001g0022a0002c0002t0010g0024a0002c0002t0020g0129others(5): Show | 8 | HG01069.hp2 HG01243.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.5898+197A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181790753 | ||||||
| chr1:181790811
|
C | CTTAGT | 14 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(11): Show | 14 | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.5898+259_5898+263d others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | 181790811 | |||||
| chr1:181791200
|
G | A | 49 | a0002c0002t0001g0022a0002c0002t0001g0023a0002c0002t0002g0138others(46): Show | 49 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.5898+644G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791200 | ||||||
| chr1:181791239
|
A | G | 2 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5898+683A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791239 | ||||||
| chr1:181791327
|
T | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(22): Show | 25 | HG00323.hp1 HG00408.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.5898+771T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791327 | ||||||
| chr1:181791430
|
G | A | 2 | a0001c0001t0019g0034a0001c0001t0019g0052 | 2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5898+874G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791430 | ||||||
| chr1:181791607
|
A | G | 1 | a0001c0001t0066g0070 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.5898+1051A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791607 | ||||||
| chr1:181791613
|
C | T | 17 | a0001c0001t0059g0107a0003c0003t0001g0106a0003c0003t0003g0103others(14): Show | 17 | HG00609.hp1 HG00673.hp1 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.5898+1057C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791613 | ||||||
| chr1:181791653
|
C | T | 3 | a0001c0005t0018g0061a0001c0015t0047g0027a0007c0019t0041g0116 | 3 | HG01099.hp1 HG01891.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.5898+1097C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791653 | ||||||
| chr1:181791777
|
A | G | 1 | a0001c0001t0052g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5898+1221A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791777 | ||||||
| chr1:181791841
|
C | T | 1 | a0003c0010t0002g0035 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.5898+1285C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181791841 | ||||||
| chr1:181792184
|
G | GA | 10 | a0001c0001t0065g0173a0001c0001t0066g0070a0001c0008t0008g0030others(7): Show | 10 | HG01074.hp1 HG01109.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.5899-1474dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | 181792184 | |||||
| chr1:181792409
|
G | A | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5899-1256G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181792409 | ||||||
| chr1:181792536
|
A | G | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.5899-1129A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181792536 | ||||||
| chr1:181792657
|
C | T | 2 | a0001c0001t0063g0026a0001c0001t0070g0037 | 2 | HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.5899-1008C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181792657 | ||||||
| chr1:181792676
|
C | CCCTA | 158 | a0001c0001t0001g0166a0001c0001t0002g0126a0001c0001t0002g0195others(155): Show | 158 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.5899-986_5899-985i others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | 181792676 | |||||
| chr1:181792676
|
C | CCCTG | 3 | a0001c0001t0002g0001a0001c0001t0010g0028a0001c0006t0075g0064 | 3 | HG01074.hp2 HG02886.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.5899-988_5899-985d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | 181792676 | |||||
| chr1:181792725
|
A | G | 1 | a0001c0004t0004g0137 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.5899-940A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181792725 | ||||||
| chr1:181792776
|
C | T | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5899-889C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181792776 | ||||||
| chr1:181793034
|
A | C | 2 | a0001c0005t0030g0150a0001c0005t0030g0178 | 2 | HG02615.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.5899-631A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181793034 | ||||||
| chr1:181793046
|
TACAACAT others(5): Show |
T | 1 | a0002c0002t0021g0010 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.5899-606_5899-595d others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | 181793046 | |||||
| chr1:181793624
|
G | A | 6 | a0001c0004t0001g0186a0001c0004t0002g0160a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp1 HG00642.hp1 HG03239.hp1 others(3): Show |
intron_variant | MODIFIER | c.5899-41G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | chr1 | 181793624 | ||||||
| chr1:181793813
|
A | G | 1 | a0001c0024t0067g0004 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.6027+20A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | chr1 | 181793813 | ||||||
| chr1:181793857
|
AATATCTG | A | 2 | a0001c0001t0006g0123a0001c0001t0006g0189 | 2 | HG00280.hp2 HG00609.hp2 |
intron_variant | MODIFIER | c.6027+69_6027+75del others(7): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr1 | 181793857 | |||||
| chr1:181793879
|
G | A | 2 | a0001c0001t0005g0015a0001c0001t0043g0077 | 2 | HG02698.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.6027+86G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | chr1 | 181793879 | ||||||
| chr1:181794073
|
G | A | 5 | a0001c0001t0065g0173a0001c0009t0078g0040a0001c0012t0029g0163others(2): Show | 5 | HG01099.hp1 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.6027+280G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | chr1 | 181794073 | ||||||
| chr1:181794360
|
T | A | 6 | a0001c0001t0019g0034a0001c0001t0019g0052a0001c0001t0024g0112others(3): Show | 6 | HG01069.hp2 HG01109.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.6028-504T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | chr1 | 181794360 | ||||||
| chr1:181794443
|
T | TA | 29 | a0001c0001t0003g0130a0001c0001t0003g0134a0001c0001t0009g0049others(26): Show | 29 | HG00438.hp2 HG00673.hp2 HG01069.hp2 others(26): Show |
intron_variant | MODIFIER | c.6028-409dupA | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr1 | 181794443 | |||||
| chr1:181794444
|
A | T | 1 | a0001c0001t0012g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6028-420A>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | chr1 | 181794444 | ||||||
| chr1:181795102
|
C | G | 18 | a0001c0001t0002g0126a0001c0001t0064g0013a0001c0004t0008g0032others(15): Show | 18 | HG01074.hp1 HG01099.hp1 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.6208+58C>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795102 | ||||||
| chr1:181795124
|
G | C | 1 | a0001c0001t0008g0179 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.6208+80G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795124 | ||||||
| chr1:181795444
|
A | AT | 5 | a0002c0002t0003g0201a0002c0002t0003g0202a0002c0002t0003g0203others(2): Show | 5 | HG01517.hp2 HG02895.hp2 HG03669.hp2 others(2): Show |
intron_variant | MODIFIER | c.6208+414dupT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795444 | |||||
| chr1:181795444
|
AT | A | 92 | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(89): Show | 92 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.6208+414delT | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795444 | |||||
| chr1:181795526
|
T | C | 11 | a0001c0001t0007g0121a0001c0001t0007g0136a0001c0001t0007g0154others(8): Show | 11 | HG00597.hp2 HG00741.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.6208+482T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795526 | ||||||
| chr1:181795630
|
C | T | 9 | a0001c0001t0063g0026a0001c0001t0065g0173a0001c0001t0066g0070others(6): Show | 9 | HG02615.hp1 HG02615.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.6208+586C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795630 | ||||||
| chr1:181795688
|
C | T | 28 | a0001c0001t0002g0001a0001c0001t0002g0195a0001c0001t0010g0028others(25): Show | 28 | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.6208+644C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795688 | ||||||
| chr1:181795767
|
A | AATATAT | 4 | a0003c0003t0005g0083a0003c0003t0005g0152a0003c0003t0005g0170others(1): Show | 4 | NA18972.hp1 NA18983.hp1 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.6208+738_6208+743d others(8): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(5): Show |
3 | a0001c0001t0024g0112a0001c0005t0024g0003a0003c0003t0061g0059 | 3 | HG01109.hp1 HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.6208+732_6208+743d others(14): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(7): Show |
11 | a0001c0001t0019g0034a0001c0001t0052g0081a0001c0004t0045g0047others(8): Show | 11 | HG01123.hp1 HG01496.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.6208+730_6208+743d others(16): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(9): Show |
16 | a0001c0001t0002g0195a0001c0001t0010g0028a0001c0001t0019g0052others(13): Show | 16 | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.6208+728_6208+743d others(18): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(11): Show |
4 | a0001c0004t0002g0071a0003c0003t0001g0076a0003c0003t0001g0147others(1): Show | 4 | HG00735.hp1 HG00741.hp1 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.6208+726_6208+743d others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(13): Show |
2 | a0002c0002t0001g0023a0003c0003t0001g0106 | 2 | HG00280.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.6208+724_6208+743d others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(15): Show |
1 | a0004c0007t0001g0171 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.6208+743_6208+744i others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(17): Show |
2 | a0001c0001t0002g0001a0004c0007t0046g0007 | 2 | HG01074.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(26): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(19): Show |
2 | a0001c0001t0059g0107a0001c0022t0056g0176 | 2 | HG03492.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(28): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(21): Show |
1 | a0001c0004t0001g0186 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6208+743_6208+744i others(30): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(25): Show |
3 | a0001c0001t0001g0166a0001c0032t0062g0073a0003c0010t0002g0035 | 3 | HG00597.hp1 HG01109.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(34): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(31): Show |
4 | a0001c0001t0005g0015a0001c0001t0005g0172a0001c0005t0032g0029others(1): Show | 4 | HG00609.hp1 HG02135.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.6208+743_6208+744i others(40): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(33): Show |
3 | a0001c0004t0002g0160a0001c0009t0078g0040a0002c0002t0002g0143 | 3 | HG00642.hp1 HG01261.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(42): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(35): Show |
6 | a0001c0001t0005g0086a0001c0001t0043g0077a0001c0005t0032g0099others(3): Show | 6 | HG00408.hp1 HG02723.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.6208+743_6208+744i others(44): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(37): Show |
6 | a0001c0001t0008g0179a0001c0004t0002g0101a0001c0004t0002g0199others(3): Show | 6 | HG00323.hp2 HG01069.hp2 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.6208+743_6208+744i others(46): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(39): Show |
2 | a0001c0001t0005g0089a0001c0001t0048g0054 | 2 | HG03195.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(48): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(41): Show |
1 | a0003c0003t0014g0082 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.6208+743_6208+744i others(50): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(43): Show |
2 | a0001c0001t0014g0142a0002c0002t0014g0125 | 2 | NA18942.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(52): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(47): Show |
2 | a0001c0001t0004g0146a0009c0021t0002g0098 | 2 | HG00323.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.6208+743_6208+744i others(56): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
A | AATATATA others(38): Show |
1 | a0003c0003t0005g0192 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.6208+741_6208+742i others(47): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795767
|
AATAT | A | 3 | a0001c0005t0026g0031a0002c0002t0026g0175a0002c0002t0027g0036 | 3 | HG01243.hp1 HG02258.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.6208+740_6208+743d others(6): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | 181795767 | |||||
| chr1:181795824
|
G | A | 16 | a0001c0001t0002g0126a0001c0001t0064g0013a0001c0004t0008g0032others(13): Show | 16 | HG01074.hp1 HG01099.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.6208+780G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181795824 | ||||||
| chr1:181796075
|
G | C | 47 | a0001c0001t0001g0166a0001c0001t0002g0001a0001c0001t0002g0195others(44): Show | 47 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(44): Show |
intron_variant | MODIFIER | c.6209-593G>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181796075 | ||||||
| chr1:181796533
|
G | T | 3 | a0001c0005t0026g0031a0002c0002t0026g0175a0002c0002t0027g0036 | 3 | HG01243.hp1 HG02258.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.6209-135G>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181796533 | ||||||
| chr1:181796589
|
T | A | 1 | a0002c0002t0027g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.6209-79T>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | chr1 | 181796589 | ||||||
| chr1:181796861
|
G | A | 1 | a0003c0003t0061g0059 | 1 | HG01884.hp1 | splice_region_variant&intron_variant | LOW | c.6399+3G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181796861 | ||||||
| chr1:181796947
|
C | T | 7 | a0001c0001t0019g0034a0001c0001t0019g0052a0001c0001t0024g0112others(4): Show | 7 | HG01069.hp2 HG01109.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.6399+89C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181796947 | ||||||
| chr1:181796948
|
G | A | 1 | a0001c0009t0040g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.6399+90G>A | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181796948 | ||||||
| chr1:181797288
|
C | T | 1 | a0003c0003t0023g0182 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.6399+430C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797288 | ||||||
| chr1:181797301
|
T | C | 15 | a0001c0001t0009g0049a0001c0001t0009g0085a0001c0001t0009g0132others(12): Show | 15 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.6399+443T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797301 | ||||||
| chr1:181797370
|
T | C | 2 | a0001c0005t0030g0150a0001c0005t0030g0178 | 2 | HG02615.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.6399+512T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797370 | ||||||
| chr1:181797394
|
C | T | 15 | a0001c0001t0009g0049a0001c0001t0009g0085a0001c0001t0009g0132others(12): Show | 15 | HG00438.hp2 HG00673.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.6399+536C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797394 | ||||||
| chr1:181797427
|
T | C | 7 | a0001c0001t0019g0034a0001c0001t0019g0052a0001c0001t0024g0112others(4): Show | 7 | HG01069.hp2 HG01109.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.6399+569T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797427 | ||||||
| chr1:181797488
|
C | T | 2 | a0001c0005t0018g0061a0001c0009t0018g0041 | 2 | HG01891.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.6399+630C>T | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797488 | ||||||
| chr1:181797810
|
A | G | 1 | a0001c0001t0006g0131 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.6400-482A>G | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181797810 | ||||||
| chr1:181798215
|
A | C | 1 | a0001c0015t0047g0027 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.6400-77A>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181798215 | ||||||
| chr1:181798261
|
T | C | 1 | a0001c0001t0048g0054 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6400-31T>C | CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 47/47 | chr1 | 181798261 |