| geneid | 8912 |
|---|---|
| ensemblid | ENSG00000196557.14 |
| hgncid | 1395 |
| symbol | CACNA1H |
| name | calcium voltage-gated channel subunit alpha1 H |
| refseq_nuc | NM_021098.3 |
| refseq_prot | NP_066921.2 |
| ensembl_nuc | ENST00000348261.11 |
| ensembl_prot | ENSP00000334198.7 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 1153106 |
| end | 1221768 |
| strand | + |
| ver | v1.2 |
| region | chr16:1153106-1221768 |
| region5000 | chr16:1148106-1226768 |
| regionname0 | CACNA1H_chr16_1153106_1221768 |
| regionname5000 | CACNA1H_chr16_1148106_1226768 |
| 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 | 0/0 | 2353 | 102 | 9 | 23 | 61 | 3 | 6 | 38 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002 | 0/0 | 2353 | 73 | 38 | 10 | 14 | 6 | 5 | 13 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003 | 0/0 | 2353 | 12 | 9 | 1 | 1 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004 | 0/0 | 2353 | 11 | 0 | 0 | 11 | 0 | 0 | 9 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005 | 0/0 | 2353 | 10 | 2 | 3 | 0 | 1 | 4 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0006 | 0/0 | 2353 | 9 | 0 | 2 | 5 | 0 | 2 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007 | 0/1 | 2353 | 9 | 0 | 5 | 0 | 0 | 3 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008 | 1/0 | 2353 | 9 | 4 | 1 | 0 | 1 | 2 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009 | 0/0 | 2353 | 7 | 0 | 0 | 0 | 1 | 6 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010 | 0/0 | 2353 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011 | 0/0 | 2353 | 4 | 0 | 2 | 1 | 1 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012 | 0/0 | 2353 | 4 | 0 | 1 | 2 | 0 | 1 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013 | 0/0 | 2353 | 3 | 0 | 0 | 1 | 0 | 2 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0014 | 0/0 | 2353 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0015 | 0/0 | 2353 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016 | 0/0 | 2353 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0017 | 0/0 | 2353 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0018 | 0/0 | 2353 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0019 | 0/0 | 2353 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0020 | 0/0 | 2353 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0021 | 0/0 | 2353 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0022 | 0/0 | 2353 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0023 | 0/0 | 2353 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0024 | 0/0 | 2353 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0025 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0026 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0027 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0028 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0029 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0030 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0031 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0032 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0033 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0034 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0035 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0036 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0037 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0038 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0039 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0040 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0041 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0042 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0043 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0044 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0045 | 0/0 | 2364 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0046 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0047 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0048 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0049 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0050 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0051 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0052 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0053 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0054 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0055 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0056 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0057 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0058 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0059 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0060 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0061 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0062 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0063 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0064 | 0/0 | 2349 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0065 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0066 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0067 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0068 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0069 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0070 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0071 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0072 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0073 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0074 | 0/0 | 2353 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0075 | 0/0 | 2353 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0076 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0077 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0078 | 0/0 | 2353 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0079 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0080 | 0/0 | 2353 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 7062 | 88 | 2 | 22 | 56 | 3 | 5 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0002 | 0/0 | 7062 | 23 | 13 | 2 | 3 | 2 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0003 | 0/0 | 7062 | 9 | 1 | 3 | 0 | 1 | 4 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0004 | 0/0 | 7062 | 9 | 0 | 2 | 5 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0005 | 0/0 | 7062 | 8 | 0 | 5 | 0 | 0 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0006 | 0/0 | 7062 | 8 | 0 | 0 | 8 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0007 | 0/0 | 7062 | 7 | 1 | 1 | 4 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0008 | 0/0 | 7062 | 7 | 3 | 4 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0009 | 1/0 | 7062 | 5 | 0 | 1 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0010 | 0/0 | 7062 | 5 | 1 | 2 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0011 | 0/0 | 7062 | 5 | 5 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0012 | 0/0 | 7062 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0013 | 0/0 | 7062 | 4 | 0 | 1 | 0 | 2 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0014 | 0/0 | 7062 | 4 | 0 | 0 | 4 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0015 | 0/0 | 7062 | 3 | 1 | 1 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0016 | 0/0 | 7062 | 3 | 0 | 0 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0017 | 0/0 | 7062 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0018 | 0/0 | 7062 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0019 | 0/0 | 7062 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0020 | 0/0 | 7062 | 3 | 0 | 2 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0021 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0022 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0023 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0024 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0025 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0026 | 0/0 | 7062 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0027 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0028 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0029 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0030 | 0/0 | 7062 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0031 | 0/0 | 7062 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0032 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0033 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0034 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0035 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0036 | 0/0 | 7062 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0037 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0038 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0039 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0040 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0041 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0042 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0043 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0044 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0045 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0046 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0047 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0048 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0049 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0050 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0051 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0052 | 0/1 | 7062 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0053 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0054 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0055 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0056 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0057 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0058 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0059 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0060 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0061 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0062 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0063 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0064 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0065 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0066 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0067 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0068 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0069 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0070 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0071 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0072 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0073 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0074 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0075 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0076 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0077 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0078 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0079 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0080 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0081 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0082 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0083 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0084 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0085 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0086 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0087 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0088 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0089 | 0/0 | 7095 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0090 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0091 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0092 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0093 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0094 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0095 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0096 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0097 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0098 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0099 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0100 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0101 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0102 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0103 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0104 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0105 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0106 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0107 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0108 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0109 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0110 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0111 | 0/0 | 7050 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0112 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0113 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0114 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0115 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0116 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0117 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0118 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0119 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0120 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0121 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0122 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0123 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0124 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0125 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0126 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0127 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0128 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0129 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0130 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0131 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0132 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0133 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0134 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0135 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| c0136 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| 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 | 1158 | 131 | 36 | 30 | 45 | 9 | 11 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0002 | 0/0 | 1158 | 51 | 11 | 4 | 31 | 0 | 5 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0003 | 1/0 | 1158 | 27 | 12 | 8 | 3 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0004 | 0/0 | 1158 | 24 | 7 | 2 | 12 | 0 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0005 | 0/0 | 1124 | 16 | 2 | 4 | 6 | 1 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0006 | 0/0 | 1158 | 11 | 1 | 1 | 2 | 0 | 7 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0007 | 0/1 | 1158 | 10 | 1 | 1 | 5 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0008 | 0/0 | 1124 | 9 | 0 | 6 | 1 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0009 | 0/0 | 1158 | 7 | 0 | 6 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0010 | 0/0 | 1158 | 5 | 0 | 3 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0011 | 0/0 | 1158 | 3 | 1 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0012 | 0/0 | 1158 | 3 | 0 | 1 | 1 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0013 | 0/0 | 1124 | 3 | 0 | 0 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0014 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0015 | 0/0 | 1158 | 2 | 0 | 1 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0016 | 0/0 | 1164 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0017 | 0/0 | 1124 | 2 | 0 | 1 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0018 | 0/0 | 1164 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0019 | 0/0 | 1158 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0020 | 0/0 | 1158 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0021 | 0/0 | 1124 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0022 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0023 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0024 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0025 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0026 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0027 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0028 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0029 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0030 | 0/0 | 1124 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0031 | 0/0 | 1124 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0032 | 0/0 | 1124 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0033 | 0/0 | 1164 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0034 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0035 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0036 | 0/0 | 1158 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0037 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0038 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0039 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0040 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0041 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0042 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| t0043 | 0/0 | 1144 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| 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 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0053 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0195 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0279 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0286 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0297 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0312 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0314 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0319 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0320 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0334 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| g0335 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 7062 | 88 | 2 | 22 | 56 | 3 | 5 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0031 | 0/0 | 7062 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0032 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0040 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0041 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0070 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0086 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0087 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0088 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0091 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0092 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0094 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0097 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002 | 0/0 | 7062 | 23 | 13 | 2 | 3 | 2 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0007 | 0/0 | 7062 | 7 | 1 | 1 | 4 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0008 | 0/0 | 7062 | 7 | 3 | 4 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0010 | 0/0 | 7062 | 5 | 1 | 2 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0011 | 0/0 | 7062 | 5 | 5 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0012 | 0/0 | 7062 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0013 | 0/0 | 7062 | 4 | 0 | 1 | 0 | 2 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0014 | 0/0 | 7062 | 4 | 0 | 0 | 4 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0025 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0035 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0039 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0043 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0055 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0057 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0058 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0063 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0078 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0108 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0109 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0135 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0015 | 0/0 | 7062 | 3 | 1 | 1 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0022 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0028 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0060 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0068 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0107 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0132 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0133 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0006 | 0/0 | 7062 | 8 | 0 | 0 | 8 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0019 | 0/0 | 7062 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0003 | 0/0 | 7062 | 9 | 1 | 3 | 0 | 1 | 4 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0050 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0006c0004 | 0/0 | 7062 | 9 | 0 | 2 | 5 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007c0005 | 0/0 | 7062 | 8 | 0 | 5 | 0 | 0 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007c0052 | 0/1 | 7062 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0009 | 1/0 | 7062 | 5 | 0 | 1 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0023 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0056 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0059 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0016 | 0/0 | 7062 | 3 | 0 | 0 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0073 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0075 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0076 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0116 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0024 | 0/0 | 7062 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0062 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0131 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0020 | 0/0 | 7062 | 3 | 0 | 2 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0129 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012c0036 | 0/0 | 7062 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012c0038 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013c0030 | 0/0 | 7062 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013c0084 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0014c0018 | 0/0 | 7062 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0015c0017 | 0/0 | 7062 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016c0026 | 0/0 | 7062 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016c0134 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0017c0064 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0017c0066 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0018c0027 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0019c0033 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0020c0021 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0021c0034 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0022c0114 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0022c0117 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0023c0029 | 0/0 | 7062 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0024c0037 | 0/0 | 7062 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0025c0047 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0026c0128 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0027c0127 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0028c0049 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0029c0065 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0030c0067 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0031c0113 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0032c0071 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0033c0106 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0034c0105 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0035c0104 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0036c0103 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0037c0081 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0038c0101 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0039c0099 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0040c0100 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0041c0098 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0042c0083 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0043c0085 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0044c0090 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0045c0089 | 0/0 | 7095 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0046c0096 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0047c0082 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0048c0093 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0049c0095 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0050c0102 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0051c0054 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0052c0051 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0053c0053 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0054c0074 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0055c0110 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0056c0115 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0057c0077 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0058c0069 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0059c0079 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0060c0061 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0061c0080 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0062c0072 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0063c0044 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0064c0111 | 0/0 | 7050 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0065c0042 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0066c0112 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0067c0130 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0068c0118 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0069c0121 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0070c0122 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0071c0124 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0072c0123 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0073c0125 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0074c0120 | 0/0 | 7062 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0075c0119 | 0/0 | 7062 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0076c0126 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0077c0048 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0078c0046 | 0/0 | 7062 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0079c0136 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0080c0045 | 0/0 | 7062 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8219 | 44 | 2 | 11 | 27 | 3 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0002 | 0/0 | 8219 | 24 | 0 | 3 | 18 | 0 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0005 | 0/0 | 8185 | 5 | 0 | 0 | 4 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0009 | 0/0 | 8219 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0010 | 0/0 | 8219 | 3 | 0 | 3 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0014 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0015 | 0/0 | 8219 | 2 | 0 | 1 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0022 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0024 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0034 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0001t0035 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0031t0001 | 0/0 | 8219 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0032t0021 | 0/0 | 8185 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0040t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0041t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0070t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0086t0001 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0087t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0088t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0091t0029 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0092t0009 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0094t0016 | 0/0 | 8225 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0001c0097t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002t0001 | 0/0 | 8219 | 16 | 8 | 2 | 1 | 2 | 3 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002t0002 | 0/0 | 8219 | 4 | 3 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002t0007 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002t0018 | 0/0 | 8225 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0002t0026 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0007t0001 | 0/0 | 8219 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0007t0002 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0007t0003 | 0/0 | 8219 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0007t0010 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0008t0001 | 0/0 | 8219 | 3 | 1 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0008t0002 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0008t0005 | 0/0 | 8185 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0008t0019 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0010t0001 | 0/0 | 8219 | 3 | 1 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0010t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0010t0005 | 0/0 | 8185 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0011t0001 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0011t0002 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0011t0005 | 0/0 | 8185 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0012t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0012t0002 | 0/0 | 8219 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0013t0001 | 0/0 | 8219 | 3 | 0 | 0 | 0 | 2 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0013t0036 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0014t0007 | 0/0 | 8219 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0014t0008 | 0/0 | 8185 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0025t0001 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0035t0001 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0039t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0043t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0055t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0057t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0058t0023 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0063t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0078t0005 | 0/0 | 8185 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0108t0027 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0109t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0002c0135t0043 | 0/0 | 8205 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0015t0004 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0015t0011 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0015t0017 | 0/0 | 8185 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0022t0020 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0022t0028 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0028t0004 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0060t0039 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0068t0004 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0107t0004 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0132t0030 | 0/0 | 8185 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0003c0133t0004 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0006t0001 | 0/0 | 8219 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0006t0002 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0019t0001 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0004c0019t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0003t0001 | 0/0 | 8219 | 6 | 1 | 2 | 0 | 1 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0003t0002 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0003t0005 | 0/0 | 8185 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0003t0009 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0005c0050t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0006c0004t0004 | 0/0 | 8219 | 7 | 0 | 2 | 3 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0006c0004t0011 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0006c0004t0017 | 0/0 | 8185 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007c0005t0003 | 0/0 | 8219 | 3 | 0 | 2 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007c0005t0008 | 0/0 | 8185 | 5 | 0 | 3 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0007c0052t0007 | 0/1 | 8219 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0009t0003 | 1/0 | 8219 | 2 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0009t0007 | 0/0 | 8219 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0009t0008 | 0/0 | 8185 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0023t0003 | 0/0 | 8219 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0056t0038 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0008c0059t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0016t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0016t0013 | 0/0 | 8185 | 2 | 0 | 0 | 0 | 1 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0073t0012 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0075t0042 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0076t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0009c0116t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0024t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0024t0002 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0062t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0010c0131t0002 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0020t0006 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0020t0012 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0020t0041 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0011c0129t0012 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012c0036t0001 | 0/0 | 8219 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012c0038t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0012c0038t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013c0030t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013c0030t0013 | 0/0 | 8185 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0013c0084t0006 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0014c0018t0004 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0014c0018t0011 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0015c0017t0003 | 0/0 | 8219 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016c0026t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016c0026t0008 | 0/0 | 8185 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0016c0134t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0017c0064t0032 | 0/0 | 8185 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0017c0066t0025 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0018c0027t0001 | 0/0 | 8219 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0019c0033t0005 | 0/0 | 8185 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0020c0021t0004 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0021c0034t0003 | 0/0 | 8219 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0022c0114t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0022c0117t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0023c0029t0001 | 0/0 | 8219 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0024c0037t0004 | 0/0 | 8219 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0025c0047t0005 | 0/0 | 8185 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0026c0128t0040 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0027c0127t0009 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0028c0049t0004 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0029c0065t0007 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0030c0067t0020 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0031c0113t0018 | 0/0 | 8225 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0032c0071t0001 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0033c0106t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0034c0105t0007 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0035c0104t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0036c0103t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0037c0081t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0038c0101t0008 | 0/0 | 8185 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0039c0099t0006 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0040c0100t0007 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0041c0098t0004 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0042c0083t0003 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0043c0085t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0044c0090t0001 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0045c0089t0005 | 0/0 | 8218 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0046c0096t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0047c0082t0003 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0048c0093t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0049c0095t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0050c0102t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0051c0054t0003 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0052c0051t0001 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0053c0053t0001 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0054c0074t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0055c0110t0001 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0056c0115t0003 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0057c0077t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0058c0069t0033 | 0/0 | 8225 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0059c0079t0004 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0060c0061t0002 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0061c0080t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0062c0072t0001 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0063c0044t0006 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0064c0111t0031 | 0/0 | 8173 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0065c0042t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0066c0112t0002 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0067c0130t0004 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0068c0118t0010 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0069c0121t0005 | 0/0 | 8185 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0070c0122t0003 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0071c0124t0003 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0072c0123t0006 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0073c0125t0001 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0074c0120t0037 | 0/0 | 8219 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0075c0119t0001 | 0/0 | 8219 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0076c0126t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0077c0048t0016 | 0/0 | 8225 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0078c0046t0004 | 0/0 | 8219 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0079c0136t0001 | 0/0 | 8219 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| a0080c0045t0005 | 0/0 | 8185 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | copy fasta | chr16 | 1148106 | 1226768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0314 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0001g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0005g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0005g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0005g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0005g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0005g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0009g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0009g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0009g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0010g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0010g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0010g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0014g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0014g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0015g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0015g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0022g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0024g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0034g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0001t0035g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0031t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0031t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0032t0021g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0032t0021g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0040t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0041t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0070t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0086t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0087t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0088t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0091t0029g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0092t0009g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0094t0016g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0001c0097t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0001g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0002g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0007g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0018g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0002t0026g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0002g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0003g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0007t0010g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0001g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0002g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0005g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0019g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0008t0019g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0010t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0010t0001g0319 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0010t0001g0320 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0010t0002g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0010t0005g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0011t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0011t0001g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0011t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0011t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0011t0005g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0012t0001g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0012t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0012t0002g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0012t0002g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0013t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0013t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0013t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0013t0036g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0014t0007g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0014t0007g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0014t0007g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0014t0008g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0025t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0025t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0035t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0035t0001g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0039t0003g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0043t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0055t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0057t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0058t0023g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0063t0001g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0078t0005g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0108t0027g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0109t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0002c0135t0043g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0015t0004g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0015t0011g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0015t0017g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0022t0020g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0022t0028g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0028t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0028t0004g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0060t0039g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0068t0004g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0107t0004g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0132t0030g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0003c0133t0004g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0006t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0019t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0019t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0004c0019t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0002g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0005g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0003t0009g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0005c0050t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0004g0286 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0011g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0006c0004t0017g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0003g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0003g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0003g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0008g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0008g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0008g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0008g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0005t0008g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0007c0052t0007g0053 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0009t0003g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0009t0003g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0009t0007g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0009t0007g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0009t0008g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0023t0003g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0023t0003g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0056t0038g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0008c0059t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0016t0006g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0016t0013g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0016t0013g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0073t0012g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0075t0042g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0076t0006g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0009c0116t0006g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0010c0024t0001g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0010c0024t0002g0334 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0010c0062t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0010c0131t0002g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0011c0020t0006g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0011c0020t0012g0335 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0011c0020t0041g0297 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0011c0129t0012g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0012c0036t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0012c0036t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0012c0038t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0012c0038t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0013c0030t0006g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0013c0030t0013g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0013c0084t0006g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0014c0018t0004g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0014c0018t0004g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0014c0018t0011g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0015c0017t0003g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0015c0017t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0015c0017t0003g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0016c0026t0003g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0016c0026t0008g0279 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0016c0134t0003g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0017c0064t0032g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0017c0066t0025g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0018c0027t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0018c0027t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0019c0033t0005g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0019c0033t0005g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0020c0021t0004g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0020c0021t0004g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0021c0034t0003g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0022c0114t0006g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0022c0117t0006g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0023c0029t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0023c0029t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0024c0037t0004g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0024c0037t0004g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0025c0047t0005g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0026c0128t0040g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0027c0127t0009g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0028c0049t0004g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0029c0065t0007g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0030c0067t0020g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0031c0113t0018g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0032c0071t0001g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0033c0106t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0034c0105t0007g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0035c0104t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0036c0103t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0037c0081t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0038c0101t0008g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0039c0099t0006g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0040c0100t0007g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0041c0098t0004g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0042c0083t0003g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0043c0085t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0044c0090t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0045c0089t0005g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0046c0096t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0047c0082t0003g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0048c0093t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0049c0095t0002g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0050c0102t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0051c0054t0003g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0052c0051t0001g0312 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0053c0053t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0054c0074t0001g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0055c0110t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0056c0115t0003g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0057c0077t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0058c0069t0033g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0059c0079t0004g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0060c0061t0002g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0061c0080t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0062c0072t0001g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0063c0044t0006g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0064c0111t0031g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0065c0042t0003g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0066c0112t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0067c0130t0004g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0068c0118t0010g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0069c0121t0005g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0070c0122t0003g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0071c0124t0003g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0072c0123t0006g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0073c0125t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0074c0120t0037g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0075c0119t0001g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0076c0126t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0077c0048t0016g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0078c0046t0004g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0079c0136t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| a0080c0045t0005g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0053 | c0053 | t0001 | g0004 | EUR | GBR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00099 | hp2 | a0009 | c0016 | t0013 | g0246 | EUR | GBR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00140 | hp1 | a0008 | c0009 | t0003 | g0174 | EUR | GBR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00140 | hp2 | a0002 | c0013 | t0001 | g0176 | EUR | GBR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00280 | hp1 | a0002 | c0002 | t0001 | g0114 | EUR | FIN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00280 | hp2 | a0002 | c0078 | t0005 | g0250 | EUR | FIN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00323 | hp1 | a0005 | c0003 | t0001 | g0021 | EUR | FIN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00323 | hp2 | a0011 | c0020 | t0041 | g0297 | EUR | FIN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00408 | hp1 | a0001 | c0001 | t0035 | g0078 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0090 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00423 | hp1 | a0001 | c0092 | t0009 | g0306 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00423 | hp2 | a0001 | c0001 | t0022 | g0298 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00438 | hp1 | a0002 | c0014 | t0008 | g0267 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00438 | hp2 | a0001 | c0001 | t0005 | g0275 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00544 | hp1 | a0079 | c0136 | t0001 | g0073 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0196 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0127 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00558 | hp2 | a0080 | c0045 | t0005 | g0274 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0327 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00597 | hp2 | a0001 | c0088 | t0001 | g0016 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00621 | hp2 | a0006 | c0004 | t0017 | g0263 | EAS | CHS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00639 | hp1 | a0002 | c0008 | t0002 | g0233 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00639 | hp2 | a0012 | c0036 | t0001 | g0035 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00642 | hp1 | a0019 | c0033 | t0005 | g0254 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00642 | hp2 | a0007 | c0005 | t0003 | g0181 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00733 | hp1 | a0002 | c0008 | t0001 | g0185 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00733 | hp2 | a0056 | c0115 | t0003 | g0190 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00735 | hp1 | a0023 | c0029 | t0001 | g0194 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00735 | hp2 | a0051 | c0054 | t0003 | g0130 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00738 | hp1 | a0064 | c0111 | t0031 | g0256 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG00738 | hp2 | a0007 | c0005 | t0008 | g0257 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01069 | hp1 | a0002 | c0010 | t0001 | g0319 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01069 | hp2 | a0040 | c0100 | t0007 | g0111 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01071 | hp1 | a0001 | c0001 | t0009 | g0213 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01071 | hp2 | a0002 | c0010 | t0001 | g0320 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01074 | hp1 | a0045 | c0089 | t0005 | g0262 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01074 | hp2 | a0047 | c0082 | t0003 | g0072 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01081 | hp1 | a0071 | c0124 | t0003 | g0103 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0156 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01099 | hp1 | a0038 | c0101 | t0008 | g0261 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01099 | hp2 | a0019 | c0033 | t0005 | g0260 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01106 | hp1 | a0062 | c0072 | t0001 | g0210 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01106 | hp2 | a0018 | c0027 | t0001 | g0165 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01109 | hp1 | a0002 | c0013 | t0036 | g0206 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01109 | hp2 | a0001 | c0031 | t0001 | g0217 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01167 | hp1 | a0006 | c0004 | t0004 | g0286 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01167 | hp2 | a0023 | c0029 | t0001 | g0183 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01168 | hp1 | a0018 | c0027 | t0001 | g0145 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0207 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0208 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01169 | hp2 | a0006 | c0004 | t0004 | g0285 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01175 | hp1 | a0032 | c0071 | t0001 | g0310 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01175 | hp2 | a0075 | c0119 | t0001 | g0313 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01243 | hp1 | a0002 | c0007 | t0001 | g0029 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01243 | hp2 | a0011 | c0020 | t0006 | g0061 | AMR | PUR | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01256 | hp1 | a0005 | c0003 | t0001 | g0179 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0131 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01257 | hp1 | a0021 | c0034 | t0003 | g0002 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01257 | hp2 | a0002 | c0002 | t0001 | g0009 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01258 | hp2 | a0021 | c0034 | t0003 | g0002 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01261 | hp2 | a0003 | c0015 | t0017 | g0271 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01346 | hp1 | a0001 | c0001 | t0009 | g0001 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01346 | hp2 | a0008 | c0009 | t0008 | g0253 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0212 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01361 | hp2 | a0011 | c0020 | t0012 | g0335 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0177 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01496 | hp2 | a0007 | c0005 | t0008 | g0259 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01516 | hp1 | a0002 | c0108 | t0027 | g0104 | EUR | IBS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0195 | EUR | IBS | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01884 | hp1 | a0054 | c0074 | t0001 | g0283 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01884 | hp2 | a0002 | c0025 | t0001 | g0223 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01891 | hp1 | a0002 | c0109 | t0001 | g0080 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01891 | hp2 | a0002 | c0008 | t0019 | g0221 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01928 | hp1 | a0001 | c0001 | t0010 | g0135 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0137 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01934 | hp2 | a0007 | c0005 | t0003 | g0166 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01943 | hp1 | a0007 | c0005 | t0008 | g0272 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01943 | hp2 | a0005 | c0003 | t0009 | g0180 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01975 | hp2 | a0001 | c0001 | t0010 | g0155 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01978 | hp1 | a0005 | c0003 | t0001 | g0178 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0244 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01981 | hp1 | a0001 | c0001 | t0010 | g0013 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01981 | hp2 | a0016 | c0026 | t0008 | g0279 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02004 | hp1 | a0027 | c0127 | t0009 | g0164 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02004 | hp2 | a0052 | c0051 | t0001 | g0312 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02027 | hp1 | a0006 | c0004 | t0004 | g0024 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0302 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0296 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02040 | hp2 | a0012 | c0038 | t0002 | g0115 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02055 | hp1 | a0003 | c0028 | t0004 | g0325 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02055 | hp2 | a0002 | c0002 | t0001 | g0284 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02056 | hp1 | a0057 | c0077 | t0001 | g0191 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02056 | hp2 | a0034 | c0105 | t0007 | g0058 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02071 | hp1 | a0001 | c0001 | t0005 | g0248 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02074 | hp1 | a0006 | c0004 | t0004 | g0022 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02074 | hp2 | a0067 | c0130 | t0004 | g0309 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02080 | hp2 | a0004 | c0006 | t0002 | g0234 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02083 | hp1 | a0024 | c0037 | t0004 | g0280 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02129 | hp2 | a0013 | c0084 | t0006 | g0168 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02132 | hp1 | a0003 | c0015 | t0004 | g0060 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02132 | hp2 | a0004 | c0006 | t0001 | g0199 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02135 | hp1 | a0035 | c0104 | t0002 | g0064 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0292 | EAS | KHV | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02145 | hp1 | a0002 | c0002 | t0001 | g0007 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02145 | hp2 | a0001 | c0032 | t0021 | g0265 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0140 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02148 | hp2 | a0001 | c0001 | t0015 | g0134 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02155 | hp1 | a0001 | c0001 | t0005 | g0249 | EAS | CDX | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0084 | EAS | CDX | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0091 | EAS | CDX | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02165 | hp2 | a0050 | c0102 | t0002 | g0099 | EAS | CDX | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02257 | hp1 | a0001 | c0031 | t0001 | g0218 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02257 | hp2 | a0002 | c0002 | t0002 | g0087 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02258 | hp1 | a0058 | c0069 | t0033 | g0049 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02258 | hp2 | a0001 | c0070 | t0001 | g0092 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02273 | hp1 | a0001 | c0001 | t0009 | g0001 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0211 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02280 | hp1 | a0073 | c0125 | t0001 | g0047 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02280 | hp2 | a0029 | c0065 | t0007 | g0202 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0138 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02300 | hp2 | a0002 | c0008 | t0005 | g0252 | AMR | PEL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02451 | hp1 | a0026 | c0128 | t0040 | g0014 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02451 | hp2 | a0015 | c0017 | t0003 | g0108 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0322 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02572 | hp2 | a0060 | c0061 | t0002 | g0330 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02602 | hp1 | a0003 | c0107 | t0004 | g0184 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02602 | hp2 | a0002 | c0013 | t0001 | g0170 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02615 | hp1 | a0078 | c0046 | t0004 | g0076 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02615 | hp2 | a0069 | c0121 | t0005 | g0264 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02622 | hp1 | a0002 | c0002 | t0001 | g0209 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02622 | hp2 | a0002 | c0008 | t0001 | g0316 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02630 | hp1 | a0002 | c0012 | t0002 | g0050 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02630 | hp2 | a0002 | c0010 | t0001 | g0019 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02647 | hp1 | a0010 | c0024 | t0002 | g0334 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02647 | hp2 | a0010 | c0024 | t0001 | g0300 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02683 | hp1 | a0005 | c0003 | t0002 | g0173 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02683 | hp2 | a0005 | c0003 | t0001 | g0186 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02717 | hp1 | a0003 | c0028 | t0004 | g0028 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02717 | hp2 | a0065 | c0042 | t0003 | g0230 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02723 | hp1 | a0008 | c0023 | t0003 | g0129 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02723 | hp2 | a0002 | c0002 | t0001 | g0324 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02735 | hp1 | a0044 | c0090 | t0001 | g0240 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02735 | hp2 | a0042 | c0083 | t0003 | g0038 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02738 | hp1 | a0074 | c0120 | t0037 | g0067 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02738 | hp2 | a0005 | c0003 | t0001 | g0192 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02809 | hp1 | a0002 | c0002 | t0018 | g0069 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02809 | hp2 | a0002 | c0011 | t0002 | g0201 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02818 | hp1 | a0010 | c0062 | t0001 | g0075 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02818 | hp2 | a0002 | c0012 | t0001 | g0318 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02886 | hp1 | a0002 | c0002 | t0002 | g0086 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02886 | hp2 | a0077 | c0048 | t0016 | g0032 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02922 | hp1 | a0002 | c0011 | t0002 | g0203 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02922 | hp2 | a0002 | c0002 | t0002 | g0085 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02965 | hp1 | a0003 | c0133 | t0004 | g0046 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02965 | hp2 | a0002 | c0011 | t0005 | g0273 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02970 | hp1 | a0063 | c0044 | t0006 | g0126 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02970 | hp2 | a0002 | c0008 | t0019 | g0031 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0017 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02976 | hp2 | a0016 | c0026 | t0003 | g0109 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03017 | hp1 | a0008 | c0009 | t0007 | g0171 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03017 | hp2 | a0007 | c0005 | t0008 | g0258 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0018 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03041 | hp2 | a0002 | c0135 | t0043 | g0282 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03098 | hp1 | a0002 | c0011 | t0001 | g0289 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03098 | hp2 | a0002 | c0055 | t0001 | g0215 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03130 | hp1 | a0043 | c0085 | t0003 | g0048 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03130 | hp2 | a0059 | c0079 | t0004 | g0036 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03139 | hp1 | a0002 | c0007 | t0001 | g0030 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03139 | hp2 | a0008 | c0059 | t0003 | g0020 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03195 | hp1 | a0002 | c0011 | t0001 | g0225 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03195 | hp2 | a0003 | c0015 | t0011 | g0015 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03209 | hp1 | a0008 | c0056 | t0038 | g0224 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03209 | hp2 | a0015 | c0017 | t0003 | g0119 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03225 | hp1 | a0002 | c0012 | t0002 | g0333 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03225 | hp2 | a0017 | c0064 | t0032 | g0276 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03239 | hp1 | a0009 | c0016 | t0013 | g0245 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03239 | hp2 | a0007 | c0005 | t0003 | g0149 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03453 | hp1 | a0002 | c0002 | t0026 | g0241 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03453 | hp2 | a0016 | c0134 | t0003 | g0308 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03486 | hp1 | a0002 | c0035 | t0001 | g0288 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03486 | hp2 | a0001 | c0094 | t0016 | g0093 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03491 | hp1 | a0006 | c0004 | t0004 | g0003 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03491 | hp2 | a0001 | c0001 | t0005 | g0268 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03492 | hp1 | a0009 | c0116 | t0006 | g0188 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03492 | hp2 | a0006 | c0004 | t0004 | g0003 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03516 | hp1 | a0001 | c0041 | t0001 | g0220 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03516 | hp2 | a0003 | c0022 | t0020 | g0025 | AFR | ESN | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03540 | hp1 | a0002 | c0063 | t0001 | g0287 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03540 | hp2 | a0002 | c0058 | t0023 | g0027 | AFR | GWD | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03579 | hp1 | a0028 | c0049 | t0004 | g0321 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03579 | hp2 | a0030 | c0067 | t0020 | g0323 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03669 | hp1 | a0013 | c0030 | t0013 | g0251 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0136 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03688 | hp1 | a0009 | c0076 | t0006 | g0142 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03688 | hp2 | a0009 | c0073 | t0012 | g0074 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03704 | hp1 | a0025 | c0047 | t0005 | g0247 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03704 | hp2 | a0055 | c0110 | t0001 | g0006 | SAS | PJL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0238 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03831 | hp2 | a0001 | c0001 | t0002 | g0143 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03834 | hp1 | a0012 | c0036 | t0001 | g0011 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0161 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03927 | hp1 | a0022 | c0117 | t0006 | g0037 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03927 | hp2 | a0013 | c0030 | t0006 | g0010 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0141 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03942 | hp2 | a0008 | c0009 | t0007 | g0163 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0239 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0005 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04184 | hp1 | a0001 | c0086 | t0001 | g0023 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04184 | hp2 | a0009 | c0016 | t0006 | g0167 | SAS | BEB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04199 | hp1 | a0072 | c0123 | t0006 | g0059 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04199 | hp2 | a0009 | c0075 | t0042 | g0162 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04204 | hp1 | a0002 | c0007 | t0002 | g0237 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG04204 | hp2 | a0005 | c0003 | t0005 | g0255 | SAS | STU | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18522 | hp1 | a0001 | c0040 | t0001 | g0228 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18522 | hp2 | a0008 | c0023 | t0003 | g0045 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0121 | EAS | CHB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | CHB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18906 | hp1 | a0001 | c0032 | t0021 | g0266 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18906 | hp2 | a0002 | c0035 | t0001 | g0172 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18943 | hp1 | a0006 | c0004 | t0004 | g0187 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18943 | hp2 | a0048 | c0093 | t0002 | g0089 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18944 | hp1 | a0002 | c0002 | t0001 | g0157 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18944 | hp2 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18945 | hp1 | a0002 | c0014 | t0007 | g0081 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18945 | hp2 | a0004 | c0006 | t0001 | g0303 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18948 | hp1 | a0049 | c0095 | t0002 | g0197 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0315 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18950 | hp1 | a0037 | c0081 | t0001 | g0088 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0101 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18951 | hp2 | a0002 | c0010 | t0005 | g0270 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18954 | hp1 | a0001 | c0001 | t0014 | g0299 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18954 | hp2 | a0004 | c0006 | t0001 | g0301 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18959 | hp2 | a0068 | c0118 | t0010 | g0128 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18960 | hp1 | a0033 | c0106 | t0001 | g0160 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18964 | hp1 | a0014 | c0018 | t0004 | g0034 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18964 | hp2 | a0002 | c0010 | t0002 | g0205 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18966 | hp1 | a0004 | c0006 | t0001 | g0294 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18966 | hp2 | a0004 | c0019 | t0002 | g0063 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18967 | hp2 | a0002 | c0007 | t0003 | g0071 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18969 | hp1 | a0014 | c0018 | t0004 | g0311 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18969 | hp2 | a0001 | c0001 | t0014 | g0293 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18970 | hp1 | a0020 | c0021 | t0004 | g0147 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18979 | hp1 | a0036 | c0103 | t0001 | g0139 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18979 | hp2 | a0002 | c0007 | t0003 | g0070 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18980 | hp1 | a0002 | c0007 | t0010 | g0062 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18980 | hp2 | a0002 | c0002 | t0002 | g0243 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18983 | hp1 | a0002 | c0014 | t0007 | g0123 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18983 | hp2 | a0001 | c0001 | t0002 | g0055 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0098 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18990 | hp2 | a0004 | c0006 | t0002 | g0096 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18995 | hp1 | a0012 | c0038 | t0001 | g0295 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18998 | hp1 | a0014 | c0018 | t0011 | g0151 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18998 | hp2 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18999 | hp1 | a0011 | c0129 | t0012 | g0122 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18999 | hp2 | a0002 | c0014 | t0007 | g0083 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19000 | hp1 | a0001 | c0097 | t0001 | g0077 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0307 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19003 | hp1 | a0066 | c0112 | t0002 | g0120 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19003 | hp2 | a0020 | c0021 | t0004 | g0235 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19004 | hp1 | a0041 | c0098 | t0004 | g0033 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19005 | hp1 | a0002 | c0007 | t0003 | g0304 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19007 | hp1 | a0004 | c0019 | t0001 | g0148 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19009 | hp2 | a0039 | c0099 | t0006 | g0054 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0329 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19010 | hp2 | a0004 | c0019 | t0001 | g0222 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19011 | hp1 | a0001 | c0001 | t0024 | g0106 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19011 | hp2 | a0006 | c0004 | t0011 | g0057 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19030 | hp1 | a0003 | c0068 | t0004 | g0290 | AFR | LWK | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19030 | hp2 | a0010 | c0131 | t0002 | g0331 | AFR | LWK | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0219 | AFR | LWK | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19043 | hp2 | a0061 | c0080 | t0001 | g0227 | AFR | LWK | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19057 | hp1 | a0001 | c0087 | t0002 | g0242 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19057 | hp2 | a0076 | c0126 | t0001 | g0169 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19065 | hp2 | a0002 | c0057 | t0002 | g0100 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19080 | hp1 | a0004 | c0006 | t0001 | g0291 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19080 | hp2 | a0001 | c0001 | t0015 | g0116 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19085 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19087 | hp2 | a0002 | c0002 | t0007 | g0082 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19088 | hp1 | a0001 | c0091 | t0029 | g0328 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19088 | hp2 | a0001 | c0001 | t0005 | g0269 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19090 | hp1 | a0004 | c0006 | t0001 | g0305 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19090 | hp2 | a0001 | c0001 | t0034 | g0117 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19091 | hp1 | a0001 | c0001 | t0002 | g0152 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0110 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA19240 | hp2 | a0002 | c0043 | t0001 | g0204 | AFR | YRI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20129 | hp1 | a0046 | c0096 | t0001 | g0105 | AFR | ASW | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20129 | hp2 | a0017 | c0066 | t0025 | g0232 | AFR | ASW | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20752 | hp1 | a0002 | c0013 | t0001 | g0175 | EUR | TSI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0314 | EUR | TSI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20805 | hp1 | a0002 | c0002 | t0001 | g0008 | EUR | TSI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0153 | EUR | TSI | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20905 | hp1 | a0007 | c0005 | t0008 | g0277 | SAS | GIH | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20905 | hp2 | a0022 | c0114 | t0006 | g0189 | SAS | GIH | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01123 | hp1 | a0002 | c0008 | t0001 | g0144 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG01123 | hp2 | a0001 | c0001 | t0009 | g0216 | AMR | CLM | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02109 | hp1 | a0002 | c0002 | t0001 | g0042 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02109 | hp2 | a0003 | c0022 | t0028 | g0026 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02486 | hp1 | a0015 | c0017 | t0003 | g0107 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02486 | hp2 | a0003 | c0060 | t0039 | g0317 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02559 | hp1 | a0005 | c0003 | t0001 | g0154 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG02559 | hp2 | a0002 | c0039 | t0003 | g0229 | AFR | ACB | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03471 | hp1 | a0070 | c0122 | t0003 | g0326 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG03471 | hp2 | a0031 | c0113 | t0018 | g0214 | AFR | MSL | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG06807 | hp1 | a0002 | c0012 | t0002 | g0332 | AFR | USA | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| HG06807 | hp2 | a0002 | c0025 | t0001 | g0226 | AFR | USA | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18955 | hp1 | a0024 | c0037 | t0004 | g0056 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA18955 | hp2 | a0001 | c0001 | t0002 | g0068 | EAS | JPT | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20300 | hp1 | a0003 | c0132 | t0030 | g0278 | AFR | USA | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| NA20300 | hp2 | a0005 | c0050 | t0001 | g0125 | AFR | USA | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| homoSapiens_chm13v2 | hp1 | a0007 | c0052 | t0007 | g0053 | REF | REF | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| homoSapiens_grch38 | hp1 | a0008 | c0009 | t0003 | g0012 | REF | REF | CACNA1H_chr16_1148106_1226768 | CACNA1H | chr16 | 1148106 | 1226768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:1153876
|
G | A | 1 | a0080 | 1 | HG00558.hp2 | missense_variant | MODERATE | c.139G>A | p.Gly47Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/35 | 522/8219 | 139/7062 | 47/2353 | chr16 | 1153876 | ||
| chr16:1153977
|
C | G | 1 | a0079 | 1 | HG00544.hp1 | missense_variant | MODERATE | c.240C>G | p.Phe80Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/35 | 623/8219 | 240/7062 | 80/2353 | chr16 | 1153977 | ||
| chr16:1195492
|
T | A | 1 | a0078 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.472T>A | p.Leu158Met | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/35 | 855/8219 | 472/7062 | 158/2353 | chr16 | 1195492 | ||
| chr16:1195509
|
G | C | 1 | a0025 | 1 | HG03704.hp1 | missense_variant | MODERATE | c.489G>C | p.Gln163His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/35 | 872/8219 | 489/7062 | 163/2353 | chr16 | 1195509 | ||
| chr16:1195994
|
G | C | 1 | a0078 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.614G>C | p.Arg205Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/35 | 997/8219 | 614/7062 | 205/2353 | chr16 | 1195994 | ||
| chr16:1198735
|
T | G | 1 | a0077 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.764T>G | p.Leu255Arg | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/35 | 1147/8219 | 764/7062 | 255/2353 | chr16 | 1198735 | ||
| chr16:1200269
|
A | T | 1 | a0026 | 1 | HG02451.hp1 | missense_variant | MODERATE | c.817A>T | p.Thr273Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1200/8219 | 817/7062 | 273/2353 | chr16 | 1200269 | ||
| chr16:1200278
|
C | G | 1 | a0027 | 1 | HG02004.hp1 | missense_variant | MODERATE | c.826C>G | p.Arg276Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1209/8219 | 826/7062 | 276/2353 | chr16 | 1200278 | ||
| chr16:1200320
|
A | G | 1 | a0076 | 1 | NA19057.hp2 | missense_variant | MODERATE | c.868A>G | p.Ile290Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1251/8219 | 868/7062 | 290/2353 | chr16 | 1200320 | ||
| chr16:1200389
|
A | G | 13 | a0011a0012a0024others(10): Show | 20 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(17): Show |
missense_variant | MODERATE | c.937A>G | p.Met313Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1320/8219 | 937/7062 | 313/2353 | chr16 | 1200389 | ||
| chr16:1200392
|
C | T | 1 | a0068 | 1 | NA18959.hp2 | missense_variant | MODERATE | c.940C>T | p.Pro314Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1323/8219 | 940/7062 | 314/2353 | chr16 | 1200392 | ||
| chr16:1200446
|
G | A | 2 | a0074a0075 | 2 | HG01175.hp2 HG02738.hp1 |
missense_variant | MODERATE | c.994G>A | p.Ala332Thr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1377/8219 | 994/7062 | 332/2353 | chr16 | 1200446 | ||
| chr16:1201958
|
G | A | 1 | a0028 | 1 | HG03579.hp1 | missense_variant | MODERATE | c.1508G>A | p.Arg503His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1891/8219 | 1508/7062 | 503/2353 | chr16 | 1201958 | ||
| chr16:1201963
|
C | T | 3 | a0017a0029a0030 | 4 | HG02280.hp2 HG03225.hp2 HG03579.hp2 others(1): Show |
missense_variant | MODERATE | c.1513C>T | p.Arg505Cys | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1896/8219 | 1513/7062 | 505/2353 | chr16 | 1201963 | ||
| chr16:1201966
|
C | G | 1 | a0031 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.1516C>G | p.Arg506Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1899/8219 | 1516/7062 | 506/2353 | chr16 | 1201966 | ||
| chr16:1201967
|
G | A | 1 | a0018 | 2 | HG01106.hp2 HG01168.hp1 |
missense_variant | MODERATE | c.1517G>A | p.Arg506Gln | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1900/8219 | 1517/7062 | 506/2353 | chr16 | 1201967 | ||
| chr16:1201993
|
C | T | 1 | a0067 | 1 | HG02074.hp2 | missense_variant | MODERATE | c.1543C>T | p.His515Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1926/8219 | 1543/7062 | 515/2353 | chr16 | 1201993 | ||
| chr16:1202024
|
A | C | 1 | a0066 | 1 | NA19003.hp1 | missense_variant | MODERATE | c.1574A>C | p.His525Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1957/8219 | 1574/7062 | 525/2353 | chr16 | 1202024 | ||
| chr16:1202060
|
G | A | 1 | a0032 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.1610G>A | p.Arg537His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1993/8219 | 1610/7062 | 537/2353 | chr16 | 1202060 | ||
| chr16:1202114
|
C | T | 1 | a0073 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.1664C>T | p.Ala555Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2047/8219 | 1664/7062 | 555/2353 | chr16 | 1202114 | ||
| chr16:1202173
|
A | C | 1 | a0065 | 1 | HG02717.hp2 | missense_variant | MODERATE | c.1723A>C | p.Ile575Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2106/8219 | 1723/7062 | 575/2353 | chr16 | 1202173 | ||
| chr16:1202227
|
CATGCCGC others(5): Show |
C | 1 | a0064 | 1 | HG00738.hp1 | disruptive_inframe_deletion | MODERATE | c.1778_1789delATGCCG others(6): Show |
p.His593_Thr597delin others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2161/8219 | 1778/7062 | 593/2353 | chr16 | 1202227 | ||
| chr16:1202278
|
A | G | 1 | a0033 | 1 | NA18960.hp1 | missense_variant | MODERATE | c.1828A>G | p.Thr610Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2211/8219 | 1828/7062 | 610/2353 | chr16 | 1202278 | ||
| chr16:1202294
|
C | T | 1 | a0034 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1844C>T | p.Thr615Met | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2227/8219 | 1844/7062 | 615/2353 | chr16 | 1202294 | ||
| chr16:1202369
|
C | T | 30 | a0001a0004a0006others(27): Show | 154 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(151): Show |
missense_variant | MODERATE | c.1919C>T | p.Pro640Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2302/8219 | 1919/7062 | 640/2353 | chr16 | 1202369 | ||
| chr16:1202416
|
C | T | 1 | a0016 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
missense_variant | MODERATE | c.1966C>T | p.Pro656Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2349/8219 | 1966/7062 | 656/2353 | chr16 | 1202416 | ||
| chr16:1202441
|
T | C | 7 | a0005a0007a0020others(4): Show | 26 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(23): Show |
missense_variant | MODERATE | c.1991T>C | p.Val664Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2374/8219 | 1991/7062 | 664/2353 | chr16 | 1202441 | ||
| chr16:1204022
|
C | T | 1 | a0063 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.2015C>T | p.Ala672Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2398/8219 | 2015/7062 | 672/2353 | chr16 | 1204022 | ||
| chr16:1204037
|
C | T | 1 | a0035 | 1 | HG02135.hp1 | missense_variant | MODERATE | c.2030C>T | p.Ser677Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2413/8219 | 2030/7062 | 677/2353 | chr16 | 1204037 | ||
| chr16:1204064
|
C | T | 1 | a0051 | 1 | HG00735.hp2 | missense_variant | MODERATE | c.2057C>T | p.Pro686Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2440/8219 | 2057/7062 | 686/2353 | chr16 | 1204064 | ||
| chr16:1204121
|
G | T | 1 | a0036 | 1 | NA18979.hp1 | missense_variant | MODERATE | c.2114G>T | p.Arg705Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2497/8219 | 2114/7062 | 705/2353 | chr16 | 1204121 | ||
| chr16:1204136
|
C | T | 1 | a0074 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.2129C>T | p.Pro710Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2512/8219 | 2129/7062 | 710/2353 | chr16 | 1204136 | ||
| chr16:1204303
|
A | T | 1 | a0050 | 1 | HG02165.hp2 | missense_variant | MODERATE | c.2296A>T | p.Arg766Trp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2679/8219 | 2296/7062 | 766/2353 | chr16 | 1204303 | ||
| chr16:1204325
|
G | A | 1 | a0037 | 1 | NA18950.hp1 | missense_variant | MODERATE | c.2318G>A | p.Gly773Asp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2701/8219 | 2318/7062 | 773/2353 | chr16 | 1204325 | ||
| chr16:1204369
|
C | T | 7 | a0004a0019a0037others(4): Show | 18 | HG00642.hp1 HG01069.hp2 HG01099.hp1 others(15): Show |
missense_variant | MODERATE | c.2362C>T | p.Arg788Cys | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2745/8219 | 2362/7062 | 788/2353 | chr16 | 1204369 | ||
| chr16:1205117
|
G | A | 1 | a0062 | 1 | HG01106.hp1 | missense_variant | MODERATE | c.2455G>A | p.Glu819Lys | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/35 | 2838/8219 | 2455/7062 | 819/2353 | chr16 | 1205117 | ||
| chr16:1205207
|
C | T | 1 | a0061 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.2545C>T | p.Pro849Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/35 | 2928/8219 | 2545/7062 | 849/2353 | chr16 | 1205207 | ||
| chr16:1205222
|
C | T | 1 | a0053 | 1 | HG00099.hp1 | missense_variant | MODERATE | c.2560C>T | p.Arg854Trp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/35 | 2943/8219 | 2560/7062 | 854/2353 | chr16 | 1205222 | ||
| chr16:1206132
|
G | A | 1 | a0021 | 2 | HG01257.hp1 HG01258.hp2 |
missense_variant | MODERATE | c.2632G>A | p.Gly878Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/35 | 3015/8219 | 2632/7062 | 878/2353 | chr16 | 1206132 | ||
| chr16:1207831
|
T | C | 1 | a0060 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.3125T>C | p.Phe1042Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/35 | 3508/8219 | 3125/7062 | 1042/2353 | chr16 | 1207831 | ||
| chr16:1208021
|
A | G | 1 | a0080 | 1 | HG00558.hp2 | missense_variant | MODERATE | c.3163A>G | p.Met1055Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/35 | 3546/8219 | 3163/7062 | 1055/2353 | chr16 | 1208021 | ||
| chr16:1208033
|
G | T | 1 | a0023 | 2 | HG00735.hp1 HG01167.hp2 |
missense_variant | MODERATE | c.3175G>T | p.Ala1059Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/35 | 3558/8219 | 3175/7062 | 1059/2353 | chr16 | 1208033 | ||
| chr16:1208064
|
G | A | 1 | a0078 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.3206G>A | p.Arg1069Gln | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/35 | 3589/8219 | 3206/7062 | 1069/2353 | chr16 | 1208064 | ||
| chr16:1208189
|
G | A | 2 | a0010a0060 | 5 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(2): Show |
missense_variant | MODERATE | c.3331G>A | p.Gly1111Arg | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/35 | 3714/8219 | 3331/7062 | 1111/2353 | chr16 | 1208189 | ||
| chr16:1209282
|
G | A | 2 | a0054a0061 | 2 | HG01884.hp1 NA19043.hp2 |
missense_variant | MODERATE | c.3614G>A | p.Arg1205Gln | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/35 | 3997/8219 | 3614/7062 | 1205/2353 | chr16 | 1209282 | ||
| chr16:1210082
|
G | T | 1 | a0038 | 1 | HG01099.hp1 | missense_variant | MODERATE | c.3792G>T | p.Gln1264His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/35 | 4175/8219 | 3792/7062 | 1264/2353 | chr16 | 1210082 | ||
| chr16:1210485
|
G | C | 1 | a0049 | 1 | NA18948.hp1 | missense_variant | MODERATE | c.3961G>C | p.Gly1321Arg | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/35 | 4344/8219 | 3961/7062 | 1321/2353 | chr16 | 1210485 | ||
| chr16:1211259
|
G | A | 1 | a0052 | 1 | HG02004.hp2 | missense_variant | MODERATE | c.4315G>A | p.Ala1439Thr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/35 | 4698/8219 | 4315/7062 | 1439/2353 | chr16 | 1211259 | ||
| chr16:1211550
|
C | T | 1 | a0059 | 1 | HG03130.hp2 | missense_variant | MODERATE | c.4420C>T | p.Arg1474Trp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 23/35 | 4803/8219 | 4420/7062 | 1474/2353 | chr16 | 1211550 | ||
| chr16:1213782
|
G | T | 1 | a0048 | 1 | NA18943.hp2 | missense_variant&splice_region_variant | MODERATE | c.4780G>T | p.Ala1594Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5163/8219 | 4780/7062 | 1594/2353 | chr16 | 1213782 | ||
| chr16:1213783
|
C | T | 1 | a0048 | 1 | NA18943.hp2 | missense_variant | MODERATE | c.4781C>T | p.Ala1594Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5164/8219 | 4781/7062 | 1594/2353 | chr16 | 1213783 | ||
| chr16:1213819
|
C | T | 1 | a0055 | 1 | HG03704.hp2 | missense_variant | MODERATE | c.4817C>T | p.Thr1606Met | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5200/8219 | 4817/7062 | 1606/2353 | chr16 | 1213819 | ||
| chr16:1215315
|
G | A | 1 | a0019 | 2 | HG00642.hp1 HG01099.hp2 |
missense_variant | MODERATE | c.5113G>A | p.Ala1705Thr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/35 | 5496/8219 | 5113/7062 | 1705/2353 | chr16 | 1215315 | ||
| chr16:1217930
|
G | A | 1 | a0058 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.5335G>A | p.Asp1779Asn | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 32/35 | 5718/8219 | 5335/7062 | 1779/2353 | chr16 | 1217930 | ||
| chr16:1218243
|
C | T | 1 | a0014 | 3 | NA18964.hp1 NA18969.hp1 NA18998.hp1 |
missense_variant | MODERATE | c.5479C>T | p.His1827Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 5862/8219 | 5479/7062 | 1827/2353 | chr16 | 1218243 | ||
| chr16:1218376
|
G | A | 3 | a0038a0042a0056 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
missense_variant | MODERATE | c.5612G>A | p.Arg1871Gln | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 5995/8219 | 5612/7062 | 1871/2353 | chr16 | 1218376 | ||
| chr16:1218439
|
G | T | 5 | a0015a0043a0058others(2): Show | 7 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
missense_variant | MODERATE | c.5675G>T | p.Arg1892Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6058/8219 | 5675/7062 | 1892/2353 | chr16 | 1218439 | ||
| chr16:1218514
|
G | T | 1 | a0044 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.5750G>T | p.Arg1917Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6133/8219 | 5750/7062 | 1917/2353 | chr16 | 1218514 | ||
| chr16:1218604
|
C | T | 4 | a0015a0058a0065others(1): Show | 6 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(3): Show |
missense_variant | MODERATE | c.5840C>T | p.Pro1947Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6223/8219 | 5840/7062 | 1947/2353 | chr16 | 1218604 | ||
| chr16:1218979
|
C | T | 2 | a0022a0072 | 3 | HG03927.hp1 HG04199.hp1 NA20905.hp2 |
missense_variant | MODERATE | c.5897C>T | p.Ala1966Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6280/8219 | 5897/7062 | 1966/2353 | chr16 | 1218979 | ||
| chr16:1219003
|
A | G | 11 | a0003a0006a0014others(8): Show | 34 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(31): Show |
missense_variant | MODERATE | c.5921A>G | p.Glu1974Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6304/8219 | 5921/7062 | 1974/2353 | chr16 | 1219003 | ||
| chr16:1219071
|
G | A | 1 | a0057 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.5989G>A | p.Ala1997Thr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6372/8219 | 5989/7062 | 1997/2353 | chr16 | 1219071 | ||
| chr16:1219095
|
C | T | 3 | a0038a0042a0056 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
missense_variant | MODERATE | c.6013C>T | p.Arg2005Cys | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6396/8219 | 6013/7062 | 2005/2353 | chr16 | 1219095 | ||
| chr16:1220111
|
G | A | 6 | a0009a0011a0013others(3): Show | 18 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(15): Show |
missense_variant | MODERATE | c.6179G>A | p.Arg2060His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6562/8219 | 6179/7062 | 2060/2353 | chr16 | 1220111 | ||
| chr16:1220162
|
G | A | 44 | a0001a0002a0004others(41): Show | 245 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
missense_variant | MODERATE | c.6230G>A | p.Arg2077His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6613/8219 | 6230/7062 | 2077/2353 | chr16 | 1220162 | ||
| chr16:1220780
|
A | T | 1 | a0046 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.6848A>T | p.Asp2283Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 7231/8219 | 6848/7062 | 2283/2353 | chr16 | 1220780 | ||
| chr16:1220791
|
A | AGTGTGAC others(26): Show |
1 | a0045 | 1 | HG01074.hp1 | disruptive_inframe_insertion | MODERATE | c.6861_6893dupTGTGAC others(27): Show |
p.Gly2298_Ala2299ins others(33): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 7277/8219 | 6894/7062 | 2298/2353 | INFO_REALIGN_3_PRIME | chr16 | 1220791 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:1153830
|
G | A | 6 | a0001c0040a0001c0041a0002c0039others(3): Show | 6 | HG02559.hp2 HG02717.hp2 HG02970.hp1 others(3): Show |
synonymous_variant | LOW | c.93G>A | p.Glu31Glu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/35 | 476/8219 | 93/7062 | 31/2353 | chr16 | 1153830 | ||
| chr16:1195062
|
C | T | 8 | a0002c0011a0002c0043a0002c0135others(5): Show | 12 | HG02809.hp2 HG02922.hp1 HG02965.hp1 others(9): Show |
synonymous_variant | LOW | c.390C>T | p.Ser130Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/35 | 773/8219 | 390/7062 | 130/2353 | chr16 | 1195062 | ||
| chr16:1195464
|
G | T | 1 | a0067c0130 | 1 | HG02074.hp2 | synonymous_variant | LOW | c.444G>T | p.Ala148Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/35 | 827/8219 | 444/7062 | 148/2353 | chr16 | 1195464 | ||
| chr16:1195518
|
C | T | 3 | a0011c0129a0012c0038a0024c0037 | 5 | HG02040.hp2 HG02083.hp1 NA18955.hp1 others(2): Show |
synonymous_variant | LOW | c.498C>T | p.Tyr166Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/35 | 881/8219 | 498/7062 | 166/2353 | chr16 | 1195518 | ||
| chr16:1200559
|
T | C | 57 | a0002c0007a0002c0011a0002c0012others(54): Show | 98 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
synonymous_variant | LOW | c.1107T>C | p.Ile369Ile | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/35 | 1490/8219 | 1107/7062 | 369/2353 | chr16 | 1200559 | ||
| chr16:1200793
|
C | T | 1 | a0058c0069 | 1 | HG02258.hp1 | synonymous_variant | LOW | c.1197C>T | p.Phe399Phe | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/35 | 1580/8219 | 1197/7062 | 399/2353 | chr16 | 1200793 | ||
| chr16:1201803
|
C | T | 13 | a0009c0116a0011c0020a0011c0129others(10): Show | 18 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(15): Show |
synonymous_variant | LOW | c.1353C>T | p.Ser451Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1736/8219 | 1353/7062 | 451/2353 | chr16 | 1201803 | ||
| chr16:1201809
|
T | C | 1 | a0001c0070 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.1359T>C | p.Pro453Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1742/8219 | 1359/7062 | 453/2353 | chr16 | 1201809 | ||
| chr16:1201831
|
C | T | 3 | a0003c0068a0058c0069a0070c0122 | 3 | HG02258.hp1 HG03471.hp1 NA19030.hp1 |
synonymous_variant | LOW | c.1381C>T | p.Leu461Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1764/8219 | 1381/7062 | 461/2353 | chr16 | 1201831 | ||
| chr16:1201929
|
T | C | 1 | a0001c0070 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.1479T>C | p.Ser493Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 1862/8219 | 1479/7062 | 493/2353 | chr16 | 1201929 | ||
| chr16:1202118
|
C | T | 13 | a0009c0116a0011c0020a0011c0129others(10): Show | 18 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(15): Show |
synonymous_variant | LOW | c.1668C>T | p.Pro556Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2051/8219 | 1668/7062 | 556/2353 | chr16 | 1202118 | ||
| chr16:1202259
|
A | G | 70 | a0002c0007a0002c0008a0002c0010others(67): Show | 124 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(121): Show |
synonymous_variant | LOW | c.1809A>G | p.Arg603Arg | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/35 | 2192/8219 | 1809/7062 | 603/2353 | chr16 | 1202259 | ||
| chr16:1204110
|
G | A | 1 | a0002c0055 | 1 | HG03098.hp2 | synonymous_variant | LOW | c.2103G>A | p.Pro701Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2486/8219 | 2103/7062 | 701/2353 | chr16 | 1204110 | ||
| chr16:1204317
|
C | T | 1 | a0002c0135 | 1 | HG03041.hp2 | synonymous_variant | LOW | c.2310C>T | p.Gly770Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/35 | 2693/8219 | 2310/7062 | 770/2353 | chr16 | 1204317 | ||
| chr16:1205206
|
C | A | 1 | a0002c0035 | 2 | HG03486.hp1 NA18906.hp2 |
synonymous_variant | LOW | c.2544C>A | p.Gly848Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/35 | 2927/8219 | 2544/7062 | 848/2353 | chr16 | 1205206 | ||
| chr16:1205206
|
C | T | 15 | a0002c0011a0002c0025a0002c0043others(12): Show | 22 | HG01884.hp2 HG01981.hp2 HG02572.hp2 others(19): Show |
synonymous_variant | LOW | c.2544C>T | p.Gly848Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/35 | 2927/8219 | 2544/7062 | 848/2353 | chr16 | 1205206 | ||
| chr16:1206131
|
C | T | 2 | a0001c0032a0001c0041 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
synonymous_variant | LOW | c.2631C>T | p.Asp877Asp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/35 | 3014/8219 | 2631/7062 | 877/2353 | chr16 | 1206131 | ||
| chr16:1206176
|
G | A | 1 | a0022c0114 | 1 | NA20905.hp2 | synonymous_variant | LOW | c.2676G>A | p.Leu892Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/35 | 3059/8219 | 2676/7062 | 892/2353 | chr16 | 1206176 | ||
| chr16:1207310
|
C | T | 1 | a0001c0097 | 1 | NA19000.hp1 | synonymous_variant | LOW | c.2943C>T | p.Tyr981Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/35 | 3326/8219 | 2943/7062 | 981/2353 | chr16 | 1207310 | ||
| chr16:1207379
|
T | C | 1 | a0017c0064 | 1 | HG03225.hp2 | synonymous_variant | LOW | c.3012T>C | p.Tyr1004Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/35 | 3395/8219 | 3012/7062 | 1004/2353 | chr16 | 1207379 | ||
| chr16:1207427
|
G | A | 1 | a0009c0073 | 1 | HG03688.hp2 | synonymous_variant | LOW | c.3060G>A | p.Ala1020Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/35 | 3443/8219 | 3060/7062 | 1020/2353 | chr16 | 1207427 | ||
| chr16:1208047
|
C | T | 1 | a0046c0096 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.3189C>T | p.Asn1063Asn | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/35 | 3572/8219 | 3189/7062 | 1063/2353 | chr16 | 1208047 | ||
| chr16:1209361
|
C | T | 1 | a0055c0110 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.3693C>T | p.Arg1231Arg | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/35 | 4076/8219 | 3693/7062 | 1231/2353 | chr16 | 1209361 | ||
| chr16:1209406
|
G | A | 4 | a0005c0050a0021c0034a0047c0082others(1): Show | 5 | HG00735.hp2 HG01074.hp2 HG01257.hp1 others(2): Show |
synonymous_variant | LOW | c.3738G>A | p.Ser1246Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/35 | 4121/8219 | 3738/7062 | 1246/2353 | chr16 | 1209406 | ||
| chr16:1210481
|
T | C | 123 | a0001c0001a0001c0031a0001c0032others(120): Show | 311 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
synonymous_variant | LOW | c.3957T>C | p.Asp1319Asp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/35 | 4340/8219 | 3957/7062 | 1319/2353 | chr16 | 1210481 | ||
| chr16:1210636
|
G | A | 3 | a0038c0101a0042c0083a0056c0115 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
synonymous_variant | LOW | c.4023G>A | p.Ala1341Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 20/35 | 4406/8219 | 4023/7062 | 1341/2353 | chr16 | 1210636 | ||
| chr16:1210969
|
G | A | 5 | a0002c0008a0002c0013a0018c0027others(2): Show | 15 | HG00140.hp2 HG00639.hp1 HG00733.hp1 others(12): Show |
splice_region_variant&synonymous_variant | LOW | c.4221G>A | p.Leu1407Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/35 | 4604/8219 | 4221/7062 | 1407/2353 | chr16 | 1210969 | ||
| chr16:1211192
|
C | G | 1 | a0008c0059 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.4248C>G | p.Leu1416Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/35 | 4631/8219 | 4248/7062 | 1416/2353 | chr16 | 1211192 | ||
| chr16:1211219
|
A | G | 78 | a0001c0001a0001c0031a0001c0032others(75): Show | 244 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(241): Show |
synonymous_variant | LOW | c.4275A>G | p.Ser1425Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/35 | 4658/8219 | 4275/7062 | 1425/2353 | chr16 | 1211219 | ||
| chr16:1211222
|
A | G | 78 | a0001c0001a0001c0031a0001c0032others(75): Show | 244 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(241): Show |
synonymous_variant | LOW | c.4278A>G | p.Ser1426Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/35 | 4661/8219 | 4278/7062 | 1426/2353 | chr16 | 1211222 | ||
| chr16:1211282
|
T | C | 123 | a0001c0001a0001c0031a0001c0032others(120): Show | 311 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
synonymous_variant | LOW | c.4338T>C | p.Ile1446Ile | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/35 | 4721/8219 | 4338/7062 | 1446/2353 | chr16 | 1211282 | ||
| chr16:1211597
|
C | T | 1 | a0023c0029 | 2 | HG00735.hp1 HG01167.hp2 |
synonymous_variant | LOW | c.4467C>T | p.Asn1489Asn | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 23/35 | 4850/8219 | 4467/7062 | 1489/2353 | chr16 | 1211597 | ||
| chr16:1212014
|
C | T | 4 | a0001c0094a0002c0012a0002c0058others(1): Show | 7 | HG01891.hp1 HG02630.hp1 HG02818.hp2 others(4): Show |
synonymous_variant | LOW | c.4635C>T | p.Phe1545Phe | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/35 | 5018/8219 | 4635/7062 | 1545/2353 | chr16 | 1212014 | ||
| chr16:1213781
|
G | A | 1 | a0001c0031 | 2 | HG01109.hp2 HG02257.hp1 |
splice_region_variant&synonymous_variant | LOW | c.4779G>A | p.Glu1593Glu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5162/8219 | 4779/7062 | 1593/2353 | chr16 | 1213781 | ||
| chr16:1213805
|
C | G | 1 | a0001c0092 | 1 | HG00423.hp1 | synonymous_variant | LOW | c.4803C>G | p.Ala1601Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5186/8219 | 4803/7062 | 1601/2353 | chr16 | 1213805 | ||
| chr16:1213839
|
C | T | 1 | a0001c0091 | 1 | NA19088.hp1 | synonymous_variant | LOW | c.4837C>T | p.Leu1613Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/35 | 5220/8219 | 4837/7062 | 1613/2353 | chr16 | 1213839 | ||
| chr16:1214974
|
G | A | 2 | a0003c0068a0028c0049 | 2 | HG03579.hp1 NA19030.hp1 |
splice_region_variant&synonymous_variant | LOW | c.4932G>A | p.Ser1644Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 28/35 | 5315/8219 | 4932/7062 | 1644/2353 | chr16 | 1214974 | ||
| chr16:1216982
|
G | A | 1 | a0001c0086 | 1 | HG04184.hp1 | synonymous_variant | LOW | c.5295G>A | p.Ala1765Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/35 | 5678/8219 | 5295/7062 | 1765/2353 | chr16 | 1216982 | ||
| chr16:1217977
|
C | T | 1 | a0002c0058 | 1 | HG03540.hp2 | synonymous_variant | LOW | c.5382C>T | p.Phe1794Phe | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 32/35 | 5765/8219 | 5382/7062 | 1794/2353 | chr16 | 1217977 | ||
| chr16:1218013
|
G | C | 3 | a0038c0101a0042c0083a0056c0115 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
synonymous_variant | LOW | c.5418G>C | p.Thr1806Thr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 32/35 | 5801/8219 | 5418/7062 | 1806/2353 | chr16 | 1218013 | ||
| chr16:1218257
|
C | T | 1 | a0002c0078 | 1 | HG00280.hp2 | synonymous_variant | LOW | c.5493C>T | p.Tyr1831Tyr | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 5876/8219 | 5493/7062 | 1831/2353 | chr16 | 1218257 | ||
| chr16:1218326
|
G | C | 1 | a0007c0052 | 1 | homoSapiens_chm13v2.hp1 | synonymous_variant | LOW | c.5562G>C | p.Val1854Val | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 5945/8219 | 5562/7062 | 1854/2353 | chr16 | 1218326 | ||
| chr16:1218485
|
C | T | 13 | a0009c0016a0009c0073a0009c0076others(10): Show | 18 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(15): Show |
synonymous_variant | LOW | c.5721C>T | p.Gly1907Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6104/8219 | 5721/7062 | 1907/2353 | chr16 | 1218485 | ||
| chr16:1218494
|
C | T | 79 | a0001c0001a0001c0031a0001c0032others(76): Show | 244 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(241): Show |
synonymous_variant | LOW | c.5730C>T | p.Asp1910Asp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6113/8219 | 5730/7062 | 1910/2353 | chr16 | 1218494 | ||
| chr16:1218524
|
C | T | 1 | a0004c0019 | 3 | NA18966.hp2 NA19007.hp1 NA19010.hp2 |
synonymous_variant | LOW | c.5760C>T | p.Ser1920Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6143/8219 | 5760/7062 | 1920/2353 | chr16 | 1218524 | ||
| chr16:1218542
|
G | A | 16 | a0003c0015a0003c0022a0003c0028others(13): Show | 32 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(29): Show |
synonymous_variant | LOW | c.5778G>A | p.Ser1926Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6161/8219 | 5778/7062 | 1926/2353 | chr16 | 1218542 | ||
| chr16:1218572
|
C | T | 1 | a0008c0059 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.5808C>T | p.Pro1936Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6191/8219 | 5808/7062 | 1936/2353 | chr16 | 1218572 | ||
| chr16:1218587
|
G | A | 1 | a0001c0094 | 1 | HG03486.hp2 | synonymous_variant | LOW | c.5823G>A | p.Ser1941Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6206/8219 | 5823/7062 | 1941/2353 | chr16 | 1218587 | ||
| chr16:1218605
|
G | A | 1 | a0009c0076 | 1 | HG03688.hp1 | synonymous_variant | LOW | c.5841G>A | p.Pro1947Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6224/8219 | 5841/7062 | 1947/2353 | chr16 | 1218605 | ||
| chr16:1218635
|
G | A | 1 | a0028c0049 | 1 | HG03579.hp1 | synonymous_variant | LOW | c.5871G>A | p.Gly1957Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6254/8219 | 5871/7062 | 1957/2353 | chr16 | 1218635 | ||
| chr16:1218638
|
C | T | 1 | a0026c0128 | 1 | HG02451.hp1 | synonymous_variant | LOW | c.5874C>T | p.Ala1958Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/35 | 6257/8219 | 5874/7062 | 1958/2353 | chr16 | 1218638 | ||
| chr16:1219029
|
T | C | 78 | a0001c0001a0001c0031a0001c0032others(75): Show | 240 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(237): Show |
synonymous_variant | LOW | c.5947T>C | p.Leu1983Leu | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6330/8219 | 5947/7062 | 1983/2353 | chr16 | 1219029 | ||
| chr16:1219070
|
C | T | 2 | a0009c0076a0013c0030 | 3 | HG03669.hp1 HG03688.hp1 HG03927.hp2 |
synonymous_variant | LOW | c.5988C>T | p.His1996His | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/35 | 6371/8219 | 5988/7062 | 1996/2353 | chr16 | 1219070 | ||
| chr16:1220055
|
T | C | 19 | a0003c0015a0003c0022a0003c0028others(16): Show | 35 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(32): Show |
synonymous_variant | LOW | c.6123T>C | p.Gly2041Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6506/8219 | 6123/7062 | 2041/2353 | chr16 | 1220055 | ||
| chr16:1220205
|
C | T | 5 | a0015c0017a0043c0085a0058c0069others(2): Show | 7 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
synonymous_variant | LOW | c.6273C>T | p.Ala2091Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6656/8219 | 6273/7062 | 2091/2353 | chr16 | 1220205 | ||
| chr16:1220214
|
G | A | 1 | a0001c0087 | 1 | NA19057.hp1 | synonymous_variant | LOW | c.6282G>A | p.Ser2094Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6665/8219 | 6282/7062 | 2094/2353 | chr16 | 1220214 | ||
| chr16:1220256
|
C | T | 2 | a0002c0014a0034c0105 | 5 | HG00438.hp1 HG02056.hp2 NA18945.hp1 others(2): Show |
synonymous_variant | LOW | c.6324C>T | p.Ala2108Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6707/8219 | 6324/7062 | 2108/2353 | chr16 | 1220256 | ||
| chr16:1220277
|
C | A | 1 | a0002c0108 | 1 | HG01516.hp1 | synonymous_variant | LOW | c.6345C>A | p.Ala2115Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6728/8219 | 6345/7062 | 2115/2353 | chr16 | 1220277 | ||
| chr16:1220349
|
T | C | 125 | a0001c0001a0001c0031a0001c0032others(122): Show | 313 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
synonymous_variant | LOW | c.6417T>C | p.Asp2139Asp | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6800/8219 | 6417/7062 | 2139/2353 | chr16 | 1220349 | ||
| chr16:1220475
|
G | A | 1 | a0001c0088 | 1 | HG00597.hp2 | synonymous_variant | LOW | c.6543G>A | p.Ala2181Ala | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6926/8219 | 6543/7062 | 2181/2353 | chr16 | 1220475 | ||
| chr16:1220487
|
G | A | 1 | a0049c0095 | 1 | NA18948.hp1 | synonymous_variant | LOW | c.6555G>A | p.Lys2185Lys | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6938/8219 | 6555/7062 | 2185/2353 | chr16 | 1220487 | ||
| chr16:1220511
|
G | A | 1 | a0014c0018 | 3 | NA18964.hp1 NA18969.hp1 NA18998.hp1 |
synonymous_variant | LOW | c.6579G>A | p.Ser2193Ser | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 6962/8219 | 6579/7062 | 2193/2353 | chr16 | 1220511 | ||
| chr16:1220568
|
C | T | 1 | a0010c0062 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.6636C>T | p.Gly2212Gly | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 7019/8219 | 6636/7062 | 2212/2353 | chr16 | 1220568 | ||
| chr16:1220871
|
C | T | 3 | a0003c0022a0030c0067a0078c0046 | 4 | HG02109.hp2 HG02615.hp1 HG03516.hp2 others(1): Show |
synonymous_variant | LOW | c.6939C>T | p.Pro2313Pro | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 7322/8219 | 6939/7062 | 2313/2353 | chr16 | 1220871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:1153107
|
G | A | 2 | a0001c0001t0014a0001c0001t0022 | 3 | HG00423.hp2 NA18954.hp1 NA18969.hp2 |
5_prime_UTR_variant | MODIFIER | c.-382G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 631 | chr16 | 1153107 | |||||
| chr16:1153138
|
G | A | 1 | a0002c0058t0023 | 1 | HG03540.hp2 | 5_prime_UTR_variant | MODIFIER | c.-351G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 600 | chr16 | 1153138 | |||||
| chr16:1153156
|
G | A | 44 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(41): Show | 80 | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(77): Show |
5_prime_UTR_variant | MODIFIER | c.-333G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 582 | chr16 | 1153156 | |||||
| chr16:1153165
|
G | C | 2 | a0001c0094t0016a0077c0048t0016 | 2 | HG02886.hp2 HG03486.hp2 |
5_prime_UTR_variant | MODIFIER | c.-324G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 573 | chr16 | 1153165 | |||||
| chr16:1153172
|
GCCCGCGC others(7): Show |
G | 1 | a0002c0135t0043 | 1 | HG03041.hp2 | 5_prime_UTR_variant | MODIFIER | c.-298_-285delCGCCCC others(8): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 534 | INFO_REALIGN_3_PRIME | chr16 | 1153172 | ||||
| chr16:1153212
|
C | T | 1 | a0001c0032t0021 | 2 | HG02145.hp2 NA18906.hp1 |
5_prime_UTR_variant | MODIFIER | c.-277C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 526 | chr16 | 1153212 | |||||
| chr16:1153321
|
CGGGCCGG others(27): Show |
C | 24 | a0001c0001t0005a0001c0032t0021a0002c0008t0005others(21): Show | 35 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(32): Show |
5_prime_UTR_variant | MODIFIER | c.-125_-92delGGCGGAG others(27): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 341 | INFO_REALIGN_3_PRIME | chr16 | 1153321 | ||||
| chr16:1153331
|
G | A | 1 | a0001c0001t0024 | 1 | NA19011.hp1 | 5_prime_UTR_variant | MODIFIER | c.-158G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 407 | chr16 | 1153331 | |||||
| chr16:1153342
|
G | GGGGGCC | 5 | a0001c0094t0016a0002c0002t0018a0031c0113t0018others(2): Show | 5 | HG02258.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-130_-125dupCCGGGG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 373 | INFO_REALIGN_3_PRIME | chr16 | 1153342 | ||||
| chr16:1153460
|
A | G | 1 | a0001c0091t0029 | 1 | NA19088.hp1 | 5_prime_UTR_variant | MODIFIER | c.-29A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/35 | 278 | chr16 | 1153460 | |||||
| chr16:1221004
|
T | A | 3 | a0001c0001t0014a0001c0001t0015a0001c0001t0034 | 5 | HG02148.hp2 NA18954.hp1 NA18969.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*10T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 10 | chr16 | 1221004 | |||||
| chr16:1221037
|
G | C | 2 | a0003c0132t0030a0017c0066t0025 | 2 | NA20129.hp2 NA20300.hp1 |
3_prime_UTR_variant | MODIFIER | c.*43G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 43 | chr16 | 1221037 | |||||
| chr16:1221095
|
C | T | 18 | a0009c0016t0006a0009c0016t0013a0009c0073t0012others(15): Show | 19 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*101C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 101 | chr16 | 1221095 | |||||
| chr16:1221130
|
C | T | 1 | a0026c0128t0040 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*136C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 136 | chr16 | 1221130 | |||||
| chr16:1221175
|
C | T | 7 | a0001c0001t0009a0001c0001t0010a0001c0092t0009others(4): Show | 12 | HG00423.hp1 HG01071.hp1 HG01123.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*181C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 181 | chr16 | 1221175 | |||||
| chr16:1221189
|
G | A | 107 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(104): Show | 234 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(231): Show |
3_prime_UTR_variant | MODIFIER | c.*195G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 195 | chr16 | 1221189 | |||||
| chr16:1221192
|
C | T | 3 | a0003c0022t0020a0003c0022t0028a0030c0067t0020 | 3 | HG02109.hp2 HG03516.hp2 HG03579.hp2 |
3_prime_UTR_variant | MODIFIER | c.*198C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 198 | chr16 | 1221192 | |||||
| chr16:1221247
|
T | C | 1 | a0001c0001t0035 | 1 | HG00408.hp1 | 3_prime_UTR_variant | MODIFIER | c.*253T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 253 | chr16 | 1221247 | |||||
| chr16:1221289
|
G | A | 3 | a0002c0013t0036a0008c0056t0038a0017c0064t0032 | 3 | HG01109.hp1 HG03209.hp1 HG03225.hp2 |
3_prime_UTR_variant | MODIFIER | c.*295G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 295 | chr16 | 1221289 | |||||
| chr16:1221330
|
C | T | 1 | a0026c0128t0040 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*336C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 336 | chr16 | 1221330 | |||||
| chr16:1221348
|
G | A | 26 | a0003c0015t0004a0003c0015t0011a0003c0015t0017others(23): Show | 36 | HG00323.hp2 HG00621.hp2 HG01167.hp1 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*354G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 354 | chr16 | 1221348 | |||||
| chr16:1221370
|
G | A | 1 | a0074c0120t0037 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*376G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 376 | chr16 | 1221370 | |||||
| chr16:1221471
|
C | T | 17 | a0009c0016t0006a0009c0016t0013a0009c0073t0012others(14): Show | 18 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*477C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 477 | chr16 | 1221471 | |||||
| chr16:1221495
|
C | T | 2 | a0002c0108t0027a0064c0111t0031 | 2 | HG00738.hp1 HG01516.hp1 |
3_prime_UTR_variant | MODIFIER | c.*501C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 501 | chr16 | 1221495 | |||||
| chr16:1221596
|
G | A | 1 | a0002c0002t0026 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*602G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 602 | chr16 | 1221596 | |||||
| chr16:1221597
|
A | T | 18 | a0009c0016t0006a0009c0016t0013a0009c0073t0012others(15): Show | 19 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*603A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 603 | chr16 | 1221597 | |||||
| chr16:1221694
|
T | C | 1 | a0002c0008t0019 | 2 | HG01891.hp2 HG02970.hp2 |
3_prime_UTR_variant | MODIFIER | c.*700T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 700 | chr16 | 1221694 | |||||
| chr16:1221713
|
C | T | 1 | a0003c0060t0039 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*719C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 719 | chr16 | 1221713 | |||||
| chr16:1221742
|
G | A | 1 | a0026c0128t0040 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*748G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 35/35 | 748 | chr16 | 1221742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:1153648
|
C | T | 1 | a0011c0020t0012g0335 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-18-72C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/34 | chr16 | 1153648 | ||||||
| chr16:1153705
|
C | T | 5 | a0002c0012t0002g0332a0002c0012t0002g0333a0010c0024t0002g0334others(2): Show | 5 | HG02572.hp2 HG02647.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.-18-15C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/34 | chr16 | 1153705 | ||||||
| chr16:1153714
|
C | G | 3 | a0001c0001t0001g0327a0001c0001t0001g0329a0001c0091t0029g0328 | 3 | HG00597.hp1 NA19010.hp1 NA19088.hp1 |
splice_region_variant&intron_variant | LOW | c.-18-6C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 1/34 | chr16 | 1153714 | ||||||
| chr16:1154050
|
C | G | 6 | a0001c0001t0001g0322a0002c0002t0001g0324a0003c0028t0004g0325others(3): Show | 6 | HG02055.hp1 HG02572.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+14C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154050 | ||||||
| chr16:1154051
|
C | G | 6 | a0001c0001t0001g0322a0002c0002t0001g0324a0003c0028t0004g0325others(3): Show | 6 | HG02055.hp1 HG02572.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+15C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154051 | ||||||
| chr16:1154051
|
CGGCGGGG others(14): Show |
C | 45 | a0001c0001t0001g0281a0001c0001t0001g0292a0001c0001t0001g0296others(42): Show | 46 | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(43): Show |
intron_variant | MODIFIER | c.299+20_299+40delGG others(19): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1154051 | |||||
| chr16:1154070
|
G | GGGGGCGT others(17): Show |
2 | a0003c0132t0030g0278a0016c0026t0008g0279 | 2 | HG01981.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.299+41_299+64dupTG others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1154070 | |||||
| chr16:1154116
|
A | G | 35 | a0001c0001t0005g0248a0001c0001t0005g0249a0001c0001t0005g0268others(32): Show | 35 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(32): Show |
intron_variant | MODIFIER | c.299+80A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154116 | ||||||
| chr16:1154273
|
A | G | 1 | a0007c0005t0008g0277 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.299+237A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154273 | ||||||
| chr16:1154306
|
C | T | 3 | a0002c0012t0002g0332a0002c0012t0002g0333a0010c0024t0002g0334 | 3 | HG02647.hp1 HG03225.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.299+270C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154306 | ||||||
| chr16:1154431
|
G | C | 1 | a0053c0053t0001g0004 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.299+395G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154431 | ||||||
| chr16:1154441
|
C | T | 1 | a0002c0002t0001g0244 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.299+405C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154441 | ||||||
| chr16:1154447
|
G | C | 1 | a0002c0002t0001g0005 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.299+411G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154447 | ||||||
| chr16:1154447
|
G | T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.299+411G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154447 | ||||||
| chr16:1154453
|
G | C | 1 | a0024c0037t0004g0280 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.299+417G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154453 | ||||||
| chr16:1154467
|
G | A | 5 | a0002c0012t0002g0332a0002c0012t0002g0333a0010c0024t0002g0334others(2): Show | 5 | HG02572.hp2 HG02647.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+431G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154467 | ||||||
| chr16:1154496
|
G | T | 1 | a0002c0002t0002g0243 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.299+460G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154496 | ||||||
| chr16:1154919
|
C | T | 1 | a0001c0087t0002g0242 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.299+883C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154919 | ||||||
| chr16:1154933
|
G | C | 4 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(1): Show | 4 | HG01257.hp2 HG02145.hp1 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+897G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154933 | ||||||
| chr16:1154947
|
G | A | 1 | a0001c0001t0001g0281 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.299+911G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1154947 | ||||||
| chr16:1155049
|
G | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.299+1013G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155049 | ||||||
| chr16:1155071
|
A | G | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+1035A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155071 | ||||||
| chr16:1155076
|
C | T | 1 | a0044c0090t0001g0240 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.299+1040C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155076 | ||||||
| chr16:1155096
|
G | A | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.299+1060G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155096 | ||||||
| chr16:1155098
|
A | G | 3 | a0001c0001t0002g0238a0002c0002t0001g0239a0002c0007t0002g0237 | 3 | HG03831.hp1 HG04115.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.299+1062A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155098 | ||||||
| chr16:1155111
|
A | G | 2 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.299+1075A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155111 | ||||||
| chr16:1155162
|
C | T | 11 | a0001c0001t0001g0236a0001c0001t0005g0268a0001c0001t0005g0269others(8): Show | 11 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(8): Show |
intron_variant | MODIFIER | c.299+1126C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155162 | ||||||
| chr16:1155262
|
C | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+1226C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155262 | ||||||
| chr16:1155289
|
C | A | 1 | a0012c0036t0001g0011 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.299+1253C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155289 | ||||||
| chr16:1155375
|
C | T | 1 | a0020c0021t0004g0235 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.299+1339C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155375 | ||||||
| chr16:1155467
|
G | A | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.299+1431G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155467 | ||||||
| chr16:1155600
|
A | G | 334 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(331): Show | 337 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
intron_variant | MODIFIER | c.299+1564A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155600 | ||||||
| chr16:1155614
|
C | T | 1 | a0002c0012t0001g0318 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.299+1578C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155614 | ||||||
| chr16:1155641
|
A | G | 1 | a0002c0002t0001g0009 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.299+1605A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155641 | ||||||
| chr16:1155701
|
C | T | 1 | a0002c0012t0001g0318 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.299+1665C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155701 | ||||||
| chr16:1155745
|
C | T | 1 | a0004c0006t0002g0234 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.299+1709C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155745 | ||||||
| chr16:1155858
|
G | C | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.299+1822G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155858 | ||||||
| chr16:1155884
|
C | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.299+1848C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155884 | ||||||
| chr16:1155919
|
G | T | 2 | a0002c0008t0002g0233a0017c0066t0025g0232 | 2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+1883G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1155919 | ||||||
| chr16:1156082
|
C | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.299+2046C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156082 | ||||||
| chr16:1156095
|
G | A | 1 | a0001c0001t0010g0013 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.299+2059G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156095 | ||||||
| chr16:1156095
|
G | C | 27 | a0001c0086t0001g0023a0001c0088t0001g0016a0002c0002t0001g0017others(24): Show | 27 | HG00323.hp1 HG00597.hp2 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.299+2059G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156095 | ||||||
| chr16:1156393
|
G | A | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.299+2357G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156393 | ||||||
| chr16:1156451
|
C | T | 1 | a0001c0001t0001g0231 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.299+2415C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156451 | ||||||
| chr16:1156502
|
C | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.299+2466C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156502 | ||||||
| chr16:1156537
|
G | A | 2 | a0002c0008t0019g0031a0077c0048t0016g0032 | 2 | HG02886.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.299+2501G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156537 | ||||||
| chr16:1156553
|
G | A | 1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.299+2517G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156553 | ||||||
| chr16:1156577
|
C | G | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+2541C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156577 | ||||||
| chr16:1156600
|
G | C | 1 | a0011c0020t0012g0335 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.299+2564G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156600 | ||||||
| chr16:1156631
|
G | A | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.299+2595G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156631 | ||||||
| chr16:1156683
|
T | C | 1 | a0014c0018t0004g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.299+2647T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156683 | ||||||
| chr16:1156695
|
C | T | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.299+2659C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156695 | ||||||
| chr16:1156721
|
C | T | 3 | a0001c0040t0001g0228a0002c0039t0003g0229a0065c0042t0003g0230 | 3 | HG02559.hp2 HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.299+2685C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156721 | ||||||
| chr16:1156808
|
G | A | 1 | a0009c0016t0013g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.299+2772G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156808 | ||||||
| chr16:1156828
|
T | C | 1 | a0012c0036t0001g0035 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.299+2792T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156828 | ||||||
| chr16:1156878
|
C | T | 5 | a0002c0011t0001g0225a0002c0025t0001g0223a0002c0025t0001g0226others(2): Show | 5 | HG01884.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+2842C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1156878 | ||||||
| chr16:1157035
|
T | C | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.299+2999T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157035 | ||||||
| chr16:1157066
|
C | T | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+3030C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157066 | ||||||
| chr16:1157091
|
G | A | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+3055G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157091 | ||||||
| chr16:1157139
|
G | A | 2 | a0017c0066t0025g0232a0026c0128t0040g0014 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+3103G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157139 | ||||||
| chr16:1157148
|
G | A | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.299+3112G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157148 | ||||||
| chr16:1157162
|
G | T | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+3126G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157162 | ||||||
| chr16:1157206
|
G | A | 2 | a0022c0117t0006g0037a0042c0083t0003g0038 | 2 | HG02735.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.299+3170G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157206 | ||||||
| chr16:1157218
|
G | A | 1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.299+3182G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157218 | ||||||
| chr16:1157285
|
G | A | 1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.299+3249G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157285 | ||||||
| chr16:1157449
|
C | T | 1 | a0004c0019t0001g0222 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.299+3413C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157449 | ||||||
| chr16:1157586
|
G | A | 2 | a0002c0002t0001g0284a0054c0074t0001g0283 | 2 | HG01884.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.299+3550G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157586 | ||||||
| chr16:1157592
|
C | T | 11 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218others(8): Show | 11 | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.299+3556C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157592 | ||||||
| chr16:1157601
|
C | T | 1 | a0069c0121t0005g0264 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.299+3565C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157601 | ||||||
| chr16:1157606
|
G | A | 1 | a0001c0001t0001g0327 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.299+3570G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157606 | ||||||
| chr16:1157700
|
C | T | 1 | a0001c0001t0009g0216 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.299+3664C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157700 | ||||||
| chr16:1157732
|
C | T | 2 | a0002c0008t0001g0316a0002c0055t0001g0215 | 2 | HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.299+3696C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157732 | ||||||
| chr16:1157766
|
C | G | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+3730C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157766 | ||||||
| chr16:1157833
|
C | T | 4 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0329others(1): Show | 4 | HG01071.hp1 HG01361.hp1 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+3797C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157833 | ||||||
| chr16:1157901
|
G | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+3865G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157901 | ||||||
| chr16:1157939
|
G | A | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.299+3903G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157939 | ||||||
| chr16:1157965
|
C | T | 1 | a0062c0072t0001g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.299+3929C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157965 | ||||||
| chr16:1157968
|
GCCTTGCC others(8): Show |
G | 2 | a0001c0001t0001g0231a0024c0037t0004g0280 | 2 | HG02083.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.299+3946_299+3960d others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1157968 | |||||
| chr16:1157968
|
GCCTTGCC others(23): Show |
G | 2 | a0017c0066t0025g0232a0026c0128t0040g0014 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+3957_299+3986d others(32): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1157968 | |||||
| chr16:1157976
|
C | T | 2 | a0022c0117t0006g0037a0042c0083t0003g0038 | 2 | HG02735.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.299+3940C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157976 | ||||||
| chr16:1157997
|
A | G | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+3961A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1157997 | ||||||
| chr16:1158101
|
G | T | 1 | a0001c0001t0009g0213 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.299+4065G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158101 | ||||||
| chr16:1158130
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | NA18967.hp1 NA18970.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.299+4094G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158130 | ||||||
| chr16:1158164
|
C | T | 1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.299+4128C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158164 | ||||||
| chr16:1158310
|
G | A | 2 | a0002c0002t0001g0042a0003c0068t0004g0290 | 2 | HG02109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.299+4274G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158310 | ||||||
| chr16:1158431
|
G | C | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+4395G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158431 | ||||||
| chr16:1158474
|
C | T | 2 | a0002c0008t0001g0316a0002c0055t0001g0215 | 2 | HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.299+4438C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158474 | ||||||
| chr16:1158515
|
C | T | 5 | a0001c0001t0001g0207a0001c0001t0001g0208a0002c0002t0001g0007others(2): Show | 5 | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+4479C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158515 | ||||||
| chr16:1158584
|
C | T | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+4548C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158584 | ||||||
| chr16:1158620
|
C | T | 1 | a0002c0013t0036g0206 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.299+4584C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158620 | ||||||
| chr16:1158632
|
G | T | 1 | a0002c0010t0002g0205 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.299+4596G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158632 | ||||||
| chr16:1158634
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.299+4598G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158634 | ||||||
| chr16:1158646
|
G | A | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+4610G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158646 | ||||||
| chr16:1158650
|
G | C | 1 | a0062c0072t0001g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.299+4614G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158650 | ||||||
| chr16:1158683
|
G | A | 1 | a0001c0001t0001g0044 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.299+4647G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158683 | ||||||
| chr16:1158713
|
G | C | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+4677G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158713 | ||||||
| chr16:1158718
|
G | A | 1 | a0003c0133t0004g0046 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.299+4682G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158718 | ||||||
| chr16:1158731
|
C | T | 1 | a0002c0043t0001g0204 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.299+4695C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158731 | ||||||
| chr16:1158764
|
A | G | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+4728A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158764 | ||||||
| chr16:1158800
|
C | T | 5 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+4764C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158800 | ||||||
| chr16:1158810
|
G | A | 1 | a0025c0047t0005g0247 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.299+4774G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158810 | ||||||
| chr16:1158817
|
G | C | 10 | a0001c0040t0001g0228a0002c0002t0001g0042a0002c0008t0001g0316others(7): Show | 10 | HG02109.hp1 HG02559.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.299+4781G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158817 | ||||||
| chr16:1158836
|
C | T | 1 | a0001c0001t0001g0200 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.299+4800C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158836 | ||||||
| chr16:1158843
|
A | G | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+4807A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158843 | ||||||
| chr16:1158848
|
GCCCCGCT others(27): Show |
G | 4 | a0001c0001t0010g0013a0016c0026t0008g0279a0017c0066t0025g0232others(1): Show | 4 | HG01981.hp1 HG01981.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.299+4844_299+4877d others(36): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1158848 | |||||
| chr16:1158853
|
G | A | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+4817G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158853 | ||||||
| chr16:1158869
|
T | C | 193 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(190): Show | 194 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(191): Show |
intron_variant | MODIFIER | c.299+4833T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158869 | ||||||
| chr16:1158875
|
C | T | 5 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+4839C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158875 | ||||||
| chr16:1158876
|
G | T | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.299+4840G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158876 | ||||||
| chr16:1158903
|
T | C | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+4867T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158903 | ||||||
| chr16:1158937
|
G | A | 1 | a0004c0006t0001g0291 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.299+4901G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1158937 | ||||||
| chr16:1159142
|
C | T | 2 | a0001c0001t0001g0198a0004c0006t0001g0199 | 2 | HG00621.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.299+5106C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159142 | ||||||
| chr16:1159177
|
A | G | 35 | a0001c0001t0002g0127a0002c0002t0001g0042a0002c0002t0001g0209others(32): Show | 35 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(32): Show |
intron_variant | MODIFIER | c.299+5141A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159177 | ||||||
| chr16:1159185
|
C | T | 2 | a0005c0050t0001g0125a0069c0121t0005g0264 | 2 | HG02615.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.299+5149C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159185 | ||||||
| chr16:1159210
|
C | T | 1 | a0002c0010t0005g0270 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.299+5174C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159210 | ||||||
| chr16:1159274
|
G | T | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.299+5238G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159274 | ||||||
| chr16:1159341
|
A | C | 1 | a0001c0001t0001g0124 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.299+5305A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159341 | ||||||
| chr16:1159434
|
G | A | 40 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.299+5398G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159434 | ||||||
| chr16:1159454
|
C | T | 43 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(40): Show | 43 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.299+5418C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159454 | ||||||
| chr16:1159489
|
A | G | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+5453A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159489 | ||||||
| chr16:1159621
|
C | T | 1 | a0002c0014t0007g0123 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.299+5585C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159621 | ||||||
| chr16:1159639
|
A | AG | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+5607dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1159639 | |||||
| chr16:1159725
|
G | A | 1 | a0001c0031t0001g0217 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.299+5689G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159725 | ||||||
| chr16:1159804
|
T | C | 41 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(38): Show | 41 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.299+5768T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159804 | ||||||
| chr16:1159920
|
C | T | 1 | a0011c0129t0012g0122 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.299+5884C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159920 | ||||||
| chr16:1159925
|
C | A | 49 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(46): Show | 49 | HG00558.hp1 HG01069.hp1 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.299+5889C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1159925 | ||||||
| chr16:1160051
|
C | T | 3 | a0002c0008t0001g0316a0002c0055t0001g0215a0059c0079t0004g0036 | 3 | HG02622.hp2 HG03098.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.299+6015C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160051 | ||||||
| chr16:1160203
|
G | A | 1 | a0032c0071t0001g0310 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.299+6167G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160203 | ||||||
| chr16:1160222
|
C | T | 1 | a0049c0095t0002g0197 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.299+6186C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160222 | ||||||
| chr16:1160274
|
C | T | 1 | a0002c0002t0002g0243 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.299+6238C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160274 | ||||||
| chr16:1160285
|
G | A | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+6249G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160285 | ||||||
| chr16:1160311
|
C | T | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+6275C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160311 | ||||||
| chr16:1160324
|
A | G | 1 | a0005c0050t0001g0125 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.299+6288A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160324 | ||||||
| chr16:1160442
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.299+6406C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160442 | ||||||
| chr16:1160690
|
C | T | 1 | a0001c0001t0002g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.299+6654C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160690 | ||||||
| chr16:1160716
|
C | T | 1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.299+6680C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160716 | ||||||
| chr16:1160717
|
G | A | 1 | a0062c0072t0001g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.299+6681G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160717 | ||||||
| chr16:1160727
|
T | C | 2 | a0002c0078t0005g0250a0051c0054t0003g0130 | 2 | HG00280.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.299+6691T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160727 | ||||||
| chr16:1160770
|
C | T | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.299+6734C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160770 | ||||||
| chr16:1160803
|
A | C | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+6767A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160803 | ||||||
| chr16:1160864
|
G | T | 1 | a0001c0001t0002g0196 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.299+6828G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160864 | ||||||
| chr16:1160929
|
G | GC | 16 | a0001c0001t0001g0193a0001c0001t0001g0195a0001c0001t0001g0200others(13): Show | 16 | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.299+6902dupC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1160929 | |||||
| chr16:1160930
|
C | G | 3 | a0001c0040t0001g0228a0002c0039t0003g0229a0065c0042t0003g0230 | 3 | HG02559.hp2 HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.299+6894C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160930 | ||||||
| chr16:1160999
|
T | C | 8 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(5): Show | 8 | HG00280.hp2 HG00735.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+6963T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1160999 | ||||||
| chr16:1161001
|
C | T | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.299+6965C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161001 | ||||||
| chr16:1161014
|
G | A | 1 | a0002c0008t0002g0233 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.299+6978G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161014 | ||||||
| chr16:1161035
|
T | C | 60 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(57): Show | 60 | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(57): Show |
intron_variant | MODIFIER | c.299+6999T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161035 | ||||||
| chr16:1161068
|
A | G | 2 | a0008c0023t0003g0129a0016c0134t0003g0308 | 2 | HG02723.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.299+7032A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161068 | ||||||
| chr16:1161076
|
C | T | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+7040C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161076 | ||||||
| chr16:1161142
|
G | A | 7 | a0001c0001t0002g0127a0002c0007t0002g0237a0003c0015t0017g0271others(4): Show | 7 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.299+7106G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161142 | ||||||
| chr16:1161144
|
C | T | 1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.299+7108C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161144 | ||||||
| chr16:1161222
|
G | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.299+7186G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161222 | ||||||
| chr16:1161245
|
C | T | 4 | a0009c0116t0006g0188a0022c0114t0006g0189a0025c0047t0005g0247others(1): Show | 4 | HG00733.hp2 HG03492.hp1 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.299+7209C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161245 | ||||||
| chr16:1161287
|
A | G | 2 | a0017c0066t0025g0232a0026c0128t0040g0014 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+7251A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161287 | ||||||
| chr16:1161294
|
C | T | 1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.299+7258C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161294 | ||||||
| chr16:1161333
|
C | G | 1 | a0045c0089t0005g0262 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.299+7297C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161333 | ||||||
| chr16:1161406
|
G | A | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+7370G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161406 | ||||||
| chr16:1161457
|
C | T | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+7421C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161457 | ||||||
| chr16:1161555
|
A | C | 334 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(331): Show | 337 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
intron_variant | MODIFIER | c.299+7519A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161555 | ||||||
| chr16:1161757
|
G | A | 2 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.299+7721G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161757 | ||||||
| chr16:1161848
|
C | T | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.299+7812C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1161848 | ||||||
| chr16:1161859
|
TGTGGGGT others(6): Show |
T | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+7834_299+7846d others(15): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1161859 | |||||
| chr16:1162025
|
C | T | 13 | a0002c0007t0002g0237a0002c0010t0001g0319a0002c0010t0001g0320others(10): Show | 13 | HG00558.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.299+7989C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162025 | ||||||
| chr16:1162033
|
G | A | 1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.299+7997G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162033 | ||||||
| chr16:1162042
|
G | A | 1 | a0006c0004t0017g0263 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.299+8006G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162042 | ||||||
| chr16:1162094
|
T | G | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+8058T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162094 | ||||||
| chr16:1162101
|
C | T | 1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.299+8065C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162101 | ||||||
| chr16:1162140
|
C | G | 7 | a0002c0002t0026g0241a0002c0011t0002g0201a0002c0011t0002g0203others(4): Show | 7 | HG01981.hp2 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.299+8104C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162140 | ||||||
| chr16:1162239
|
C | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+8203C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162239 | ||||||
| chr16:1162264
|
C | T | 16 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(13): Show | 16 | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.299+8228C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162264 | ||||||
| chr16:1162279
|
G | T | 2 | a0002c0078t0005g0250a0051c0054t0003g0130 | 2 | HG00280.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.299+8243G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162279 | ||||||
| chr16:1162313
|
G | A | 3 | a0001c0040t0001g0228a0002c0039t0003g0229a0065c0042t0003g0230 | 3 | HG02559.hp2 HG02717.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.299+8277G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162313 | ||||||
| chr16:1162379
|
C | G | 1 | a0006c0004t0004g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.299+8343C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162379 | ||||||
| chr16:1162402
|
T | C | 6 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(3): Show | 6 | HG01981.hp2 HG02109.hp2 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+8366T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162402 | ||||||
| chr16:1162487
|
C | T | 3 | a0002c0008t0001g0316a0002c0055t0001g0215a0059c0079t0004g0036 | 3 | HG02622.hp2 HG03098.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.299+8451C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162487 | ||||||
| chr16:1162523
|
A | T | 55 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(52): Show | 55 | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(52): Show |
intron_variant | MODIFIER | c.299+8487A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162523 | ||||||
| chr16:1162527
|
G | A | 1 | a0054c0074t0001g0283 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.299+8491G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162527 | ||||||
| chr16:1162558
|
A | G | 2 | a0017c0066t0025g0232a0026c0128t0040g0014 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+8522A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162558 | ||||||
| chr16:1162622
|
C | T | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.299+8586C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162622 | ||||||
| chr16:1162639
|
T | TG | 112 | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0001g0132others(109): Show | 112 | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.299+8615dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1162639 | |||||
| chr16:1162639
|
T | TGG | 55 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0131others(52): Show | 56 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(53): Show |
intron_variant | MODIFIER | c.299+8614_299+8615d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1162639 | |||||
| chr16:1162639
|
T | TTG | 7 | a0001c0001t0001g0315a0002c0035t0001g0288a0002c0063t0001g0287others(4): Show | 7 | HG01884.hp1 HG02717.hp1 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.299+8603_299+8604i others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162639 | ||||||
| chr16:1162640
|
G | T | 1 | a0005c0003t0001g0186 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.299+8604G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162640 | ||||||
| chr16:1162889
|
A | T | 75 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0001t0002g0127others(72): Show | 76 | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(73): Show |
intron_variant | MODIFIER | c.299+8853A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162889 | ||||||
| chr16:1162929
|
G | A | 5 | a0001c0040t0001g0228a0002c0008t0019g0031a0003c0015t0011g0015others(2): Show | 5 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+8893G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162929 | ||||||
| chr16:1162955
|
G | A | 1 | a0001c0001t0001g0146 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.299+8919G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162955 | ||||||
| chr16:1162957
|
C | T | 3 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.299+8921C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162957 | ||||||
| chr16:1162962
|
C | T | 1 | a0013c0084t0006g0168 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.299+8926C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1162962 | ||||||
| chr16:1163084
|
C | T | 1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.299+9048C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163084 | ||||||
| chr16:1163122
|
T | C | 59 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(56): Show | 59 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.299+9086T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163122 | ||||||
| chr16:1163173
|
C | T | 6 | a0001c0001t0001g0182a0001c0001t0009g0216a0005c0003t0001g0179others(3): Show | 6 | HG00642.hp2 HG01123.hp2 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.299+9137C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163173 | ||||||
| chr16:1163174
|
G | A | 39 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.299+9138G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163174 | ||||||
| chr16:1163235
|
G | A | 39 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.299+9199G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163235 | ||||||
| chr16:1163239
|
G | C | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+9203G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163239 | ||||||
| chr16:1163285
|
C | T | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+9249C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163285 | ||||||
| chr16:1163360
|
C | A | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.299+9324C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163360 | ||||||
| chr16:1163439
|
C | T | 1 | a0002c0002t0002g0243 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.299+9403C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163439 | ||||||
| chr16:1163467
|
C | T | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0035t0001g0288others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+9431C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163467 | ||||||
| chr16:1163525
|
G | T | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+9489G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163525 | ||||||
| chr16:1163599
|
G | C | 1 | a0001c0001t0035g0078 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.299+9563G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163599 | ||||||
| chr16:1163665
|
C | T | 1 | a0001c0092t0009g0306 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.299+9629C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163665 | ||||||
| chr16:1163741
|
G | T | 3 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.299+9705G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163741 | ||||||
| chr16:1163744
|
C | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.299+9708C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163744 | ||||||
| chr16:1163854
|
G | A | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+9818G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163854 | ||||||
| chr16:1163871
|
G | A | 1 | a0002c0043t0001g0204 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.299+9835G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163871 | ||||||
| chr16:1163933
|
C | T | 1 | a0001c0001t0010g0013 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.299+9897C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163933 | ||||||
| chr16:1163963
|
A | G | 1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.299+9927A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1163963 | ||||||
| chr16:1164003
|
G | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+9967G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164003 | ||||||
| chr16:1164037
|
G | A | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.299+10001G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164037 | ||||||
| chr16:1164039
|
G | T | 13 | a0001c0001t0001g0307a0001c0001t0015g0116a0001c0001t0034g0117others(10): Show | 14 | HG01167.hp1 HG01169.hp2 HG02040.hp2 others(11): Show |
intron_variant | MODIFIER | c.299+10003G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164039 | ||||||
| chr16:1164090
|
G | A | 1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.299+10054G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164090 | ||||||
| chr16:1164180
|
T | C | 59 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(56): Show | 59 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.299+10144T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164180 | ||||||
| chr16:1164212
|
G | C | 3 | a0004c0019t0001g0148a0004c0019t0001g0222a0020c0021t0004g0147 | 3 | NA18970.hp1 NA19007.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.299+10176G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164212 | ||||||
| chr16:1164262
|
G | A | 45 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(42): Show | 45 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.299+10226G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164262 | ||||||
| chr16:1164295
|
G | A | 2 | a0008c0023t0003g0129a0016c0134t0003g0308 | 2 | HG02723.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.299+10259G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164295 | ||||||
| chr16:1164381
|
T | C | 1 | a0002c0012t0002g0332 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.299+10345T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164381 | ||||||
| chr16:1164445
|
C | T | 5 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+10409C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164445 | ||||||
| chr16:1164753
|
C | T | 4 | a0002c0008t0001g0144a0018c0027t0001g0145a0018c0027t0001g0165others(1): Show | 4 | HG01106.hp2 HG01123.hp1 HG01168.hp1 others(1): Show |
intron_variant | MODIFIER | c.299+10717C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164753 | ||||||
| chr16:1164921
|
C | T | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+10885C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164921 | ||||||
| chr16:1164948
|
T | C | 3 | a0002c0078t0005g0250a0007c0005t0003g0149a0051c0054t0003g0130 | 3 | HG00280.hp2 HG00735.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.299+10912T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164948 | ||||||
| chr16:1164956
|
A | T | 1 | a0004c0006t0001g0291 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.299+10920A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1164956 | ||||||
| chr16:1165024
|
C | T | 3 | a0002c0078t0005g0250a0007c0005t0003g0149a0051c0054t0003g0130 | 3 | HG00280.hp2 HG00735.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.299+10988C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165024 | ||||||
| chr16:1165042
|
A | C | 21 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(18): Show | 21 | HG01981.hp2 HG02055.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.299+11006A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165042 | ||||||
| chr16:1165172
|
G | A | 19 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(16): Show |
intron_variant | MODIFIER | c.299+11136G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165172 | ||||||
| chr16:1165193
|
C | T | 2 | a0009c0016t0013g0246a0045c0089t0005g0262 | 2 | HG00099.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.299+11157C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165193 | ||||||
| chr16:1165298
|
G | A | 3 | a0001c0001t0001g0133a0001c0001t0001g0150a0001c0001t0015g0134 | 3 | HG01928.hp2 HG02148.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.299+11262G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165298 | ||||||
| chr16:1165435
|
A | G | 8 | a0001c0001t0001g0236a0002c0012t0002g0332a0002c0012t0002g0333others(5): Show | 8 | HG02572.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+11399A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165435 | ||||||
| chr16:1165445
|
A | C | 3 | a0002c0002t0026g0241a0008c0023t0003g0129a0016c0134t0003g0308 | 3 | HG02723.hp1 HG03453.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.299+11409A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165445 | ||||||
| chr16:1165467
|
G | A | 4 | a0001c0001t0002g0152a0014c0018t0004g0034a0014c0018t0004g0311others(1): Show | 4 | NA18964.hp1 NA18969.hp1 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.299+11431G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165467 | ||||||
| chr16:1165469
|
G | A | 2 | a0001c0001t0001g0079a0039c0099t0006g0054 | 2 | NA19007.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.299+11433G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165469 | ||||||
| chr16:1165482
|
C | A | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+11446C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165482 | ||||||
| chr16:1165483
|
C | T | 1 | a0027c0127t0009g0164 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.299+11447C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165483 | ||||||
| chr16:1165533
|
G | A | 2 | a0002c0008t0002g0233a0002c0109t0001g0080 | 2 | HG00639.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.299+11497G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165533 | ||||||
| chr16:1165535
|
G | C | 1 | a0002c0010t0001g0319 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.299+11499G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165535 | ||||||
| chr16:1165535
|
G | GC | 51 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(48): Show | 51 | HG00558.hp1 HG00558.hp2 HG01071.hp2 others(48): Show |
intron_variant | MODIFIER | c.299+11505dupC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1165535 | |||||
| chr16:1165577
|
A | C | 1 | a0001c0001t0002g0238 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.299+11541A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165577 | ||||||
| chr16:1165681
|
T | A | 40 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.299+11645T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165681 | ||||||
| chr16:1165721
|
C | A | 1 | a0007c0005t0003g0149 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.299+11685C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165721 | ||||||
| chr16:1165876
|
G | T | 1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.299+11840G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165876 | ||||||
| chr16:1165914
|
C | T | 2 | a0022c0117t0006g0037a0042c0083t0003g0038 | 2 | HG02735.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.299+11878C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165914 | ||||||
| chr16:1165923
|
C | G | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.299+11887C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165923 | ||||||
| chr16:1165960
|
CATCTTTT others(11): Show |
C | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.299+11925_299+1194 others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165960 | ||||||
| chr16:1165979
|
C | G | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.299+11943C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165979 | ||||||
| chr16:1165981
|
C | G | 3 | a0009c0116t0006g0188a0022c0114t0006g0189a0056c0115t0003g0190 | 3 | HG00733.hp2 HG03492.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.299+11945C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1165981 | ||||||
| chr16:1166084
|
G | A | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+12048G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166084 | ||||||
| chr16:1166118
|
C | T | 19 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(16): Show | 19 | HG01981.hp2 HG02055.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.299+12082C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166118 | ||||||
| chr16:1166153
|
A | G | 1 | a0001c0001t0005g0248 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.299+12117A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166153 | ||||||
| chr16:1166284
|
G | A | 6 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0055t0001g0215others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+12248G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166284 | ||||||
| chr16:1166340
|
C | T | 1 | a0001c0001t0034g0117 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.299+12304C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166340 | ||||||
| chr16:1166342
|
A | G | 4 | a0002c0008t0019g0031a0003c0015t0011g0015a0031c0113t0018g0214others(1): Show | 4 | HG02886.hp2 HG02970.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+12306A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166342 | ||||||
| chr16:1166375
|
C | T | 4 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(1): Show | 4 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+12339C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166375 | ||||||
| chr16:1166398
|
C | T | 1 | a0001c0001t0001g0193 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.299+12362C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166398 | ||||||
| chr16:1166399
|
G | A | 3 | a0002c0008t0001g0316a0002c0055t0001g0215a0059c0079t0004g0036 | 3 | HG02622.hp2 HG03098.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.299+12363G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166399 | ||||||
| chr16:1166401
|
G | A | 1 | a0001c0001t0002g0055 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.299+12365G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166401 | ||||||
| chr16:1166404
|
G | A | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.299+12368G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166404 | ||||||
| chr16:1166410
|
A | G | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.299+12374A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166410 | ||||||
| chr16:1166447
|
T | A | 22 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(19): Show | 22 | HG01981.hp2 HG02055.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.299+12411T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166447 | ||||||
| chr16:1166492
|
C | G | 4 | a0001c0001t0001g0195a0002c0013t0001g0175a0002c0013t0001g0176others(1): Show | 4 | HG00140.hp2 HG01109.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+12456C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166492 | ||||||
| chr16:1166504
|
A | G | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+12468A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166504 | ||||||
| chr16:1166516
|
A | G | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+12480A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166516 | ||||||
| chr16:1166539
|
T | C | 6 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0153others(3): Show | 6 | HG00639.hp2 HG01168.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.299+12503T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166539 | ||||||
| chr16:1166541
|
G | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+12505G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166541 | ||||||
| chr16:1166619
|
C | A | 1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.299+12583C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166619 | ||||||
| chr16:1166622
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.299+12586C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166622 | ||||||
| chr16:1166629
|
C | T | 2 | a0002c0002t0001g0017a0013c0030t0006g0010 | 2 | HG02976.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.299+12593C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166629 | ||||||
| chr16:1166642
|
C | T | 1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.299+12606C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166642 | ||||||
| chr16:1166728
|
T | C | 207 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(204): Show | 208 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(205): Show |
intron_variant | MODIFIER | c.299+12692T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166728 | ||||||
| chr16:1166754
|
C | T | 1 | a0002c0002t0001g0244 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.299+12718C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166754 | ||||||
| chr16:1166905
|
A | G | 3 | a0004c0019t0001g0148a0004c0019t0001g0222a0020c0021t0004g0147 | 3 | NA18970.hp1 NA19007.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.299+12869A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166905 | ||||||
| chr16:1166917
|
G | A | 14 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(11): Show | 14 | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.299+12881G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1166917 | ||||||
| chr16:1167166
|
C | G | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+13130C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167166 | ||||||
| chr16:1167192
|
C | T | 1 | a0002c0002t0001g0009 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.299+13156C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167192 | ||||||
| chr16:1167228
|
G | T | 1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.299+13192G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167228 | ||||||
| chr16:1167270
|
G | A | 7 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(4): Show | 7 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.299+13234G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167270 | ||||||
| chr16:1167274
|
G | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+13238G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167274 | ||||||
| chr16:1167283
|
G | A | 2 | a0012c0038t0001g0295a0024c0037t0004g0056 | 2 | NA18955.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.299+13247G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167283 | ||||||
| chr16:1167287
|
G | A | 6 | a0002c0002t0002g0243a0002c0002t0007g0082a0002c0014t0007g0081others(3): Show | 6 | HG02056.hp2 NA18945.hp1 NA18980.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+13251G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167287 | ||||||
| chr16:1167288
|
C | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+13252C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167288 | ||||||
| chr16:1167290
|
C | T | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+13254C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167290 | ||||||
| chr16:1167323
|
C | CAG | 57 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(54): Show | 57 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(54): Show |
intron_variant | MODIFIER | c.299+13287_299+1328 others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167323 | ||||||
| chr16:1167324
|
G | A | 1 | a0001c0001t0001g0292 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.299+13288G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167324 | ||||||
| chr16:1167364
|
G | A | 59 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0131others(56): Show | 60 | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(57): Show |
intron_variant | MODIFIER | c.299+13328G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167364 | ||||||
| chr16:1167373
|
G | A | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.299+13337G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167373 | ||||||
| chr16:1167375
|
G | A | 1 | a0007c0005t0008g0277 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.299+13339G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167375 | ||||||
| chr16:1167435
|
G | A | 1 | a0014c0018t0011g0151 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.299+13399G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167435 | ||||||
| chr16:1167460
|
A | T | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.299+13424A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167460 | ||||||
| chr16:1167503
|
A | T | 1 | a0002c0002t0001g0114 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.299+13467A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167503 | ||||||
| chr16:1167549
|
T | C | 59 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0040t0001g0228others(56): Show | 59 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.299+13513T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167549 | ||||||
| chr16:1167653
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | NA18967.hp1 NA18970.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.299+13617G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167653 | ||||||
| chr16:1167710
|
C | T | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.299+13674C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167710 | ||||||
| chr16:1167729
|
C | T | 2 | a0017c0066t0025g0232a0026c0128t0040g0014 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.299+13693C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167729 | ||||||
| chr16:1167745
|
C | T | 1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.299+13709C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167745 | ||||||
| chr16:1167746
|
C | T | 1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.299+13710C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167746 | ||||||
| chr16:1167750
|
C | T | 2 | a0002c0008t0002g0233a0002c0109t0001g0080 | 2 | HG00639.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.299+13714C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167750 | ||||||
| chr16:1167915
|
C | G | 3 | a0002c0002t0026g0241a0008c0023t0003g0129a0016c0134t0003g0308 | 3 | HG02723.hp1 HG03453.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.299+13879C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1167915 | ||||||
| chr16:1168023
|
C | T | 1 | a0003c0133t0004g0046 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.299+13987C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168023 | ||||||
| chr16:1168157
|
C | T | 1 | a0002c0002t0001g0005 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.299+14121C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168157 | ||||||
| chr16:1168161
|
C | T | 1 | a0032c0071t0001g0310 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.299+14125C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168161 | ||||||
| chr16:1168180
|
G | A | 4 | a0001c0001t0001g0322a0002c0002t0001g0018a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.299+14144G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168180 | ||||||
| chr16:1168189
|
G | A | 1 | a0001c0001t0001g0153 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.299+14153G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168189 | ||||||
| chr16:1168192
|
A | AC | 6 | a0002c0002t0001g0017a0003c0015t0011g0015a0003c0028t0004g0325others(3): Show | 6 | HG01981.hp2 HG02055.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.299+14156_299+1415 others(5): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168192 | ||||||
| chr16:1168192
|
AT | A | 13 | a0002c0002t0001g0042a0002c0002t0001g0209a0002c0008t0001g0316others(10): Show | 13 | HG01884.hp1 HG02109.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.299+14157delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168192 | ||||||
| chr16:1168192
|
ATC | A | 18 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(15): Show | 18 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(15): Show |
intron_variant | MODIFIER | c.299+14157_299+1415 others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168192 | ||||||
| chr16:1168193
|
T | C | 21 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(18): Show | 21 | HG01981.hp2 HG02055.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.299+14157T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168193 | ||||||
| chr16:1168201
|
C | G | 22 | a0001c0001t0001g0052a0001c0001t0001g0112a0001c0001t0001g0113others(19): Show | 22 | HG00280.hp1 HG00423.hp1 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.299+14165C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168201 | ||||||
| chr16:1168210
|
C | T | 3 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.299+14174C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168210 | ||||||
| chr16:1168321
|
A | G | 45 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(42): Show | 45 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.299+14285A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168321 | ||||||
| chr16:1168352
|
AT | A | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+14317delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168352 | ||||||
| chr16:1168471
|
C | G | 1 | a0002c0002t0001g0244 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.299+14435C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168471 | ||||||
| chr16:1168497
|
G | A | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+14461G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168497 | ||||||
| chr16:1168522
|
G | A | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.299+14486G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168522 | ||||||
| chr16:1168577
|
C | T | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+14541C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168577 | ||||||
| chr16:1168584
|
G | C | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+14548G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168584 | ||||||
| chr16:1168812
|
C | A | 1 | a0001c0001t0001g0327 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.299+14776C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168812 | ||||||
| chr16:1168818
|
A | G | 9 | a0002c0002t0001g0042a0002c0002t0026g0241a0002c0008t0001g0316others(6): Show | 9 | HG02109.hp1 HG02622.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.299+14782A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1168818 | ||||||
| chr16:1168845
|
T | TCCC | 5 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(2): Show | 5 | HG01123.hp1 HG01257.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+14810_299+1481 others(7): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1168845 | |||||
| chr16:1169001
|
C | T | 2 | a0001c0001t0002g0143a0001c0001t0002g0161 | 2 | HG03831.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.299+14965C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169001 | ||||||
| chr16:1169065
|
A | G | 42 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(39): Show | 42 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.299+15029A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169065 | ||||||
| chr16:1169089
|
T | C | 1 | a0072c0123t0006g0059 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.299+15053T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169089 | ||||||
| chr16:1169162
|
C | T | 1 | a0044c0090t0001g0240 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.299+15126C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169162 | ||||||
| chr16:1169162
|
CGGGGTGG others(5): Show |
C | 3 | a0002c0014t0007g0083a0011c0129t0012g0122a0041c0098t0004g0033 | 3 | NA18999.hp1 NA18999.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.299+15142_299+1515 others(16): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1169162 | |||||
| chr16:1169193
|
G | C | 1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.299+15157G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169193 | ||||||
| chr16:1169212
|
AACGTGG | A | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.299+15192_299+1519 others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1169212 | |||||
| chr16:1169214
|
C | T | 21 | a0001c0001t0002g0127a0002c0002t0001g0018a0002c0007t0002g0237others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(18): Show |
intron_variant | MODIFIER | c.299+15178C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169214 | ||||||
| chr16:1169220
|
C | T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.299+15184C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169220 | ||||||
| chr16:1169267
|
C | T | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.299+15231C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169267 | ||||||
| chr16:1169298
|
C | T | 5 | a0007c0005t0008g0258a0007c0005t0008g0259a0007c0005t0008g0277others(2): Show | 5 | HG01106.hp2 HG01168.hp1 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+15262C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169298 | ||||||
| chr16:1169350
|
C | T | 2 | a0001c0031t0001g0217a0001c0031t0001g0218 | 2 | HG01109.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.299+15314C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169350 | ||||||
| chr16:1169508
|
C | T | 2 | a0001c0031t0001g0217a0001c0031t0001g0218 | 2 | HG01109.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.299+15472C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169508 | ||||||
| chr16:1169535
|
C | T | 41 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(38): Show | 41 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.299+15499C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169535 | ||||||
| chr16:1169638
|
C | T | 5 | a0003c0015t0011g0015a0008c0023t0003g0129a0008c0056t0038g0224others(2): Show | 5 | HG02723.hp1 HG02886.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+15602C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169638 | ||||||
| chr16:1169723
|
C | A | 29 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(26): Show | 29 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.299+15687C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169723 | ||||||
| chr16:1169753
|
A | G | 1 | a0047c0082t0003g0072 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.299+15717A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169753 | ||||||
| chr16:1169788
|
C | G | 1 | a0002c0002t0001g0110 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.299+15752C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169788 | ||||||
| chr16:1169832
|
G | A | 1 | a0004c0006t0001g0301 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.299+15796G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169832 | ||||||
| chr16:1169836
|
C | T | 2 | a0002c0039t0003g0229a0065c0042t0003g0230 | 2 | HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.299+15800C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169836 | ||||||
| chr16:1169855
|
G | T | 1 | a0002c0010t0001g0019 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.299+15819G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169855 | ||||||
| chr16:1169891
|
C | T | 6 | a0002c0010t0001g0019a0010c0024t0001g0300a0015c0017t0003g0107others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+15855C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169891 | ||||||
| chr16:1169963
|
G | A | 6 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(3): Show | 6 | HG02109.hp2 HG02280.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+15927G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1169963 | ||||||
| chr16:1170025
|
C | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.299+15989C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170025 | ||||||
| chr16:1170088
|
C | T | 1 | a0005c0050t0001g0125 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.299+16052C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170088 | ||||||
| chr16:1170238
|
T | C | 46 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.299+16202T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170238 | ||||||
| chr16:1170247
|
A | T | 1 | a0005c0003t0001g0192 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.299+16211A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170247 | ||||||
| chr16:1170265
|
C | T | 3 | a0002c0002t0001g0042a0003c0068t0004g0290a0059c0079t0004g0036 | 3 | HG02109.hp1 HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.299+16229C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170265 | ||||||
| chr16:1170286
|
G | A | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.299+16250G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170286 | ||||||
| chr16:1170317
|
G | A | 8 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218others(5): Show | 8 | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.299+16281G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170317 | ||||||
| chr16:1170424
|
G | A | 7 | a0002c0002t0001g0017a0002c0002t0001g0018a0017c0064t0032g0276others(4): Show | 7 | HG02258.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.299+16388G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170424 | ||||||
| chr16:1170466
|
G | A | 1 | a0002c0063t0001g0287 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.299+16430G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170466 | ||||||
| chr16:1170480
|
A | G | 44 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(41): Show | 44 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.299+16444A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170480 | ||||||
| chr16:1170512
|
G | C | 313 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(310): Show | 316 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
intron_variant | MODIFIER | c.299+16476G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170512 | ||||||
| chr16:1170548
|
G | C | 20 | a0001c0001t0001g0177a0001c0001t0001g0200a0002c0078t0005g0250others(17): Show | 20 | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(17): Show |
intron_variant | MODIFIER | c.299+16512G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170548 | ||||||
| chr16:1170566
|
G | C | 1 | a0001c0001t0002g0084 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.299+16530G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170566 | ||||||
| chr16:1170611
|
G | C | 9 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(6): Show | 9 | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.299+16575G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170611 | ||||||
| chr16:1170740
|
C | T | 1 | a0001c0001t0001g0039 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.299+16704C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1170740 | ||||||
| chr16:1171020
|
C | A | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.299+16984C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171020 | ||||||
| chr16:1171023
|
A | C | 51 | a0001c0001t0001g0322a0001c0001t0002g0127a0001c0001t0002g0196others(48): Show | 51 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(48): Show |
intron_variant | MODIFIER | c.299+16987A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171023 | ||||||
| chr16:1171078
|
C | T | 1 | a0002c0010t0002g0205 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.299+17042C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171078 | ||||||
| chr16:1171085
|
C | T | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.299+17049C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171085 | ||||||
| chr16:1171220
|
G | C | 2 | a0018c0027t0001g0145a0018c0027t0001g0165 | 2 | HG01106.hp2 HG01168.hp1 |
intron_variant | MODIFIER | c.299+17184G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171220 | ||||||
| chr16:1171298
|
T | A | 7 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(4): Show | 7 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.299+17262T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171298 | ||||||
| chr16:1171322
|
A | C | 1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.299+17286A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171322 | ||||||
| chr16:1171329
|
G | A | 1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.299+17293G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171329 | ||||||
| chr16:1171330
|
G | T | 1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.299+17294G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171330 | ||||||
| chr16:1171381
|
C | G | 12 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0315others(9): Show | 12 | HG00423.hp2 HG02071.hp1 NA18948.hp2 others(9): Show |
intron_variant | MODIFIER | c.299+17345C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171381 | ||||||
| chr16:1171401
|
C | T | 16 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(13): Show |
intron_variant | MODIFIER | c.299+17365C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171401 | ||||||
| chr16:1171403
|
C | T | 16 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(13): Show |
intron_variant | MODIFIER | c.299+17367C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171403 | ||||||
| chr16:1171419
|
G | A | 6 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(3): Show | 6 | HG01071.hp1 HG01361.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+17383G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171419 | ||||||
| chr16:1171431
|
T | C | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.299+17395T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171431 | ||||||
| chr16:1171441
|
G | T | 2 | a0002c0002t0001g0141a0009c0076t0006g0142 | 2 | HG03688.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.299+17405G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171441 | ||||||
| chr16:1171475
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | NA18967.hp1 NA18970.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.299+17439G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171475 | ||||||
| chr16:1171587
|
C | T | 1 | a0002c0002t0018g0069 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.299+17551C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171587 | ||||||
| chr16:1171694
|
C | T | 1 | a0001c0001t0034g0117 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.299+17658C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171694 | ||||||
| chr16:1171789
|
G | A | 1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.299+17753G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171789 | ||||||
| chr16:1171829
|
A | C | 63 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0001t0002g0127others(60): Show | 63 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(60): Show |
intron_variant | MODIFIER | c.299+17793A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171829 | ||||||
| chr16:1171830
|
G | A | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.299+17794G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171830 | ||||||
| chr16:1171844
|
G | A | 3 | a0002c0002t0001g0042a0003c0068t0004g0290a0059c0079t0004g0036 | 3 | HG02109.hp1 HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.299+17808G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171844 | ||||||
| chr16:1171863
|
C | T | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.299+17827C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171863 | ||||||
| chr16:1171864
|
G | C | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.299+17828G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171864 | ||||||
| chr16:1171865
|
C | G | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.299+17829C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171865 | ||||||
| chr16:1171967
|
T | A | 5 | a0002c0002t0001g0324a0002c0002t0002g0085a0002c0002t0002g0086others(2): Show | 5 | HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+17931T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1171967 | ||||||
| chr16:1172043
|
G | T | 3 | a0002c0058t0023g0027a0008c0023t0003g0045a0017c0066t0025g0232 | 3 | HG03540.hp2 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.299+18007G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172043 | ||||||
| chr16:1172057
|
C | T | 1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.299+18021C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172057 | ||||||
| chr16:1172070
|
T | G | 2 | a0031c0113t0018g0214a0077c0048t0016g0032 | 2 | HG02886.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.299+18034T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172070 | ||||||
| chr16:1172141
|
G | A | 2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.299+18105G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172141 | ||||||
| chr16:1172149
|
C | A | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.299+18113C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172149 | ||||||
| chr16:1172153
|
C | T | 2 | a0002c0002t0001g0042a0003c0068t0004g0290 | 2 | HG02109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.299+18117C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172153 | ||||||
| chr16:1172187
|
T | G | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+18151T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172187 | ||||||
| chr16:1172196
|
C | A | 8 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(5): Show | 8 | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.299+18160C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172196 | ||||||
| chr16:1172207
|
C | T | 6 | a0002c0008t0019g0031a0003c0015t0011g0015a0008c0023t0003g0129others(3): Show | 6 | HG02723.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+18171C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172207 | ||||||
| chr16:1172208
|
G | A | 1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.299+18172G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172208 | ||||||
| chr16:1172288
|
G | A | 1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.299+18252G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172288 | ||||||
| chr16:1172360
|
C | G | 2 | a0005c0003t0001g0186a0005c0003t0005g0255 | 2 | HG02683.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.299+18324C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172360 | ||||||
| chr16:1172458
|
G | A | 1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.299+18422G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172458 | ||||||
| chr16:1172586
|
C | T | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+18550C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172586 | ||||||
| chr16:1172629
|
TTTA | T | 3 | a0002c0058t0023g0027a0008c0023t0003g0045a0017c0066t0025g0232 | 3 | HG03540.hp2 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.299+18600_299+1860 others(7): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1172629 | |||||
| chr16:1172645
|
C | T | 1 | a0002c0010t0002g0205 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.299+18609C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172645 | ||||||
| chr16:1172695
|
A | G | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+18659A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172695 | ||||||
| chr16:1172787
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.299+18751C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172787 | ||||||
| chr16:1172875
|
G | C | 9 | a0002c0008t0002g0233a0002c0012t0002g0332a0002c0012t0002g0333others(6): Show | 9 | HG00639.hp1 HG01891.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.299+18839G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172875 | ||||||
| chr16:1172896
|
G | A | 1 | a0007c0005t0008g0257 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.299+18860G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172896 | ||||||
| chr16:1172916
|
CT | C | 6 | a0002c0008t0019g0031a0003c0015t0011g0015a0008c0023t0003g0129others(3): Show | 6 | HG02723.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.299+18881delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1172916 | ||||||
| chr16:1173016
|
G | A | 4 | a0001c0001t0001g0195a0002c0013t0001g0175a0002c0013t0001g0176others(1): Show | 4 | HG00140.hp2 HG01109.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+18980G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173016 | ||||||
| chr16:1173041
|
C | T | 5 | a0002c0008t0019g0031a0003c0015t0011g0015a0008c0023t0003g0129others(2): Show | 5 | HG02723.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+19005C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173041 | ||||||
| chr16:1173118
|
G | A | 22 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0008t0019g0031others(19): Show | 22 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.299+19082G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173118 | ||||||
| chr16:1173174
|
G | T | 2 | a0002c0002t0001g0042a0003c0068t0004g0290 | 2 | HG02109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.299+19138G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173174 | ||||||
| chr16:1173183
|
A | C | 2 | a0009c0073t0012g0074a0025c0047t0005g0247 | 2 | HG03688.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.299+19147A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173183 | ||||||
| chr16:1173190
|
C | T | 1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.299+19154C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173190 | ||||||
| chr16:1173244
|
G | A | 15 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.299+19208G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173244 | ||||||
| chr16:1173281
|
C | T | 2 | a0002c0108t0027g0104a0003c0107t0004g0184 | 2 | HG01516.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.299+19245C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173281 | ||||||
| chr16:1173350
|
G | A | 5 | a0009c0073t0012g0074a0009c0116t0006g0188a0022c0114t0006g0189others(2): Show | 5 | HG00733.hp2 HG03492.hp1 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+19314G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173350 | ||||||
| chr16:1173382
|
G | A | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.299+19346G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173382 | ||||||
| chr16:1173441
|
C | T | 3 | a0002c0058t0023g0027a0008c0023t0003g0045a0017c0066t0025g0232 | 3 | HG03540.hp2 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.299+19405C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173441 | ||||||
| chr16:1173480
|
A | G | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.299+19444A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173480 | ||||||
| chr16:1173517
|
A | G | 1 | a0004c0006t0001g0305 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.299+19481A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173517 | ||||||
| chr16:1173557
|
C | G | 1 | a0002c0010t0002g0205 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.299+19521C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173557 | ||||||
| chr16:1173679
|
C | T | 90 | a0001c0001t0001g0043a0001c0001t0001g0131a0001c0001t0001g0132others(87): Show | 92 | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.299+19643C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173679 | ||||||
| chr16:1173711
|
C | T | 1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.299+19675C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173711 | ||||||
| chr16:1173718
|
C | T | 14 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0010t0001g0319others(11): Show | 14 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.299+19682C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173718 | ||||||
| chr16:1173722
|
G | A | 5 | a0001c0001t0001g0118a0001c0001t0005g0249a0002c0014t0008g0267others(2): Show | 5 | HG00438.hp1 HG02132.hp1 HG02155.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+19686G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173722 | ||||||
| chr16:1173746
|
C | A | 1 | a0011c0020t0006g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.299+19710C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173746 | ||||||
| chr16:1173774
|
T | C | 51 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(48): Show | 51 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.299+19738T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173774 | ||||||
| chr16:1173798
|
G | GACCTGTG others(90): Show |
1 | a0011c0129t0012g0122 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.299+19854_299+1995 others(101): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1173798 | |||||
| chr16:1173798
|
GACCTGTG others(90): Show |
G | 5 | a0002c0002t0001g0324a0002c0002t0002g0085a0002c0002t0002g0086others(2): Show | 5 | HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.299+19854_299+1995 others(101): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1173798 | |||||
| chr16:1173858
|
A | G | 3 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | NA18967.hp1 NA18970.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.299+19822A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1173858 | ||||||
| chr16:1174109
|
T | C | 177 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(174): Show | 177 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.299+20073T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174109 | ||||||
| chr16:1174119
|
A | T | 4 | a0002c0058t0023g0027a0008c0023t0003g0045a0017c0064t0032g0276others(1): Show | 4 | HG03225.hp2 HG03540.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.299+20083A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174119 | ||||||
| chr16:1174177
|
G | T | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.299+20141G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174177 | ||||||
| chr16:1174178
|
C | T | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.299+20142C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174178 | ||||||
| chr16:1174224
|
G | A | 5 | a0002c0002t0001g0018a0002c0002t0001g0042a0002c0135t0043g0282others(2): Show | 5 | HG02109.hp1 HG03041.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.299+20188G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174224 | ||||||
| chr16:1174254
|
C | T | 7 | a0002c0002t0001g0042a0002c0008t0001g0316a0002c0011t0005g0273others(4): Show | 7 | HG02109.hp1 HG02622.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.299+20218C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174254 | ||||||
| chr16:1174405
|
G | T | 2 | a0002c0008t0019g0031a0003c0015t0011g0015 | 2 | HG02970.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.299+20369G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174405 | ||||||
| chr16:1174818
|
G | A | 21 | a0001c0001t0001g0182a0001c0001t0001g0211a0001c0001t0001g0212others(18): Show | 21 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(18): Show |
intron_variant | MODIFIER | c.300-20154G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174818 | ||||||
| chr16:1174849
|
C | G | 1 | a0044c0090t0001g0240 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.300-20123C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174849 | ||||||
| chr16:1174863
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-20109G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174863 | ||||||
| chr16:1174938
|
C | T | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-20034C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174938 | ||||||
| chr16:1174942
|
C | A | 1 | a0048c0093t0002g0089 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.300-20030C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1174942 | ||||||
| chr16:1175060
|
A | T | 138 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0131others(135): Show | 141 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.300-19912A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175060 | ||||||
| chr16:1175090
|
C | T | 1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-19882C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175090 | ||||||
| chr16:1175116
|
C | T | 3 | a0002c0008t0001g0316a0002c0011t0005g0273a0002c0055t0001g0215 | 3 | HG02622.hp2 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-19856C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175116 | ||||||
| chr16:1175184
|
G | A | 6 | a0001c0001t0001g0044a0001c0001t0002g0068a0001c0001t0002g0084others(3): Show | 6 | HG00408.hp1 HG00408.hp2 HG02083.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-19788G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175184 | ||||||
| chr16:1175189
|
G | A | 5 | a0002c0011t0002g0201a0002c0011t0002g0203a0003c0022t0020g0025others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-19783G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175189 | ||||||
| chr16:1175224
|
A | G | 1 | a0036c0103t0001g0139 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.300-19748A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175224 | ||||||
| chr16:1175313
|
G | C | 15 | a0002c0008t0019g0031a0002c0011t0002g0201a0002c0011t0002g0203others(12): Show | 15 | HG02109.hp2 HG02280.hp2 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.300-19659G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175313 | ||||||
| chr16:1175423
|
C | G | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-19549C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175423 | ||||||
| chr16:1175512
|
G | T | 1 | a0001c0001t0001g0124 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.300-19460G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175512 | ||||||
| chr16:1175566
|
C | T | 3 | a0002c0058t0023g0027a0008c0023t0003g0045a0017c0066t0025g0232 | 3 | HG03540.hp2 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-19406C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175566 | ||||||
| chr16:1175610
|
C | A | 5 | a0002c0002t0001g0324a0002c0002t0002g0085a0002c0002t0002g0086others(2): Show | 5 | HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-19362C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175610 | ||||||
| chr16:1175628
|
A | G | 92 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(89): Show | 93 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.300-19344A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175628 | ||||||
| chr16:1175643
|
A | C | 1 | a0001c0001t0010g0013 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.300-19329A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175643 | ||||||
| chr16:1175681
|
C | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-19291C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175681 | ||||||
| chr16:1175865
|
G | A | 1 | a0002c0039t0003g0229 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.300-19107G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1175865 | ||||||
| chr16:1176023
|
C | G | 9 | a0001c0001t0001g0307a0002c0007t0003g0304a0004c0006t0001g0294others(6): Show | 10 | HG01167.hp1 HG01169.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-18949C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176023 | ||||||
| chr16:1176030
|
G | A | 4 | a0006c0004t0004g0022a0006c0004t0004g0024a0006c0004t0017g0263others(1): Show | 4 | HG00544.hp1 HG00621.hp2 HG02027.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-18942G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176030 | ||||||
| chr16:1176047
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-18925C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176047 | ||||||
| chr16:1176087
|
C | G | 4 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0281others(1): Show | 4 | HG02129.hp1 HG02135.hp2 NA18951.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-18885C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176087 | ||||||
| chr16:1176100
|
C | T | 1 | a0006c0004t0017g0263 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.300-18872C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176100 | ||||||
| chr16:1176198
|
T | C | 47 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(44): Show | 47 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(44): Show |
intron_variant | MODIFIER | c.300-18774T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176198 | ||||||
| chr16:1176268
|
A | T | 7 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0281others(4): Show | 7 | HG02027.hp2 HG02129.hp1 HG02135.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-18704A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176268 | ||||||
| chr16:1176310
|
A | G | 8 | a0002c0008t0001g0316a0002c0011t0002g0201a0002c0011t0002g0203others(5): Show | 8 | HG02109.hp2 HG02280.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-18662A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176310 | ||||||
| chr16:1176457
|
C | T | 35 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(32): Show | 35 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.300-18515C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176457 | ||||||
| chr16:1176476
|
G | T | 32 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(29): Show | 32 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.300-18496G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176476 | ||||||
| chr16:1176547
|
C | T | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-18425C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176547 | ||||||
| chr16:1176580
|
G | A | 1 | a0043c0085t0003g0048 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.300-18392G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176580 | ||||||
| chr16:1176619
|
G | A | 1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.300-18353G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176619 | ||||||
| chr16:1176712
|
G | T | 26 | a0001c0001t0001g0043a0001c0001t0001g0140a0001c0001t0001g0146others(23): Show | 27 | HG01081.hp2 HG01346.hp1 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.300-18260G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176712 | ||||||
| chr16:1176759
|
G | C | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-18213G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176759 | ||||||
| chr16:1176862
|
G | A | 1 | a0002c0002t0001g0141 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.300-18110G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176862 | ||||||
| chr16:1176866
|
T | C | 48 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(45): Show | 48 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(45): Show |
intron_variant | MODIFIER | c.300-18106T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176866 | ||||||
| chr16:1176909
|
G | A | 27 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(24): Show | 27 | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.300-18063G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176909 | ||||||
| chr16:1176909
|
G | T | 9 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-18063G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176909 | ||||||
| chr16:1176958
|
G | A | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.300-18014G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176958 | ||||||
| chr16:1176971
|
C | A | 1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.300-18001C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1176971 | ||||||
| chr16:1177020
|
T | C | 2 | a0009c0073t0012g0074a0025c0047t0005g0247 | 2 | HG03688.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.300-17952T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177020 | ||||||
| chr16:1177025
|
C | G | 9 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-17947C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177025 | ||||||
| chr16:1177026
|
C | A | 2 | a0001c0001t0001g0177a0038c0101t0008g0261 | 2 | HG01099.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.300-17946C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177026 | ||||||
| chr16:1177049
|
G | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-17923G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177049 | ||||||
| chr16:1177075
|
C | T | 1 | a0024c0037t0004g0056 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.300-17897C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177075 | ||||||
| chr16:1177167
|
C | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-17805C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177167 | ||||||
| chr16:1177170
|
G | A | 2 | a0002c0002t0001g0007a0002c0002t0001g0008 | 2 | HG02145.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.300-17802G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177170 | ||||||
| chr16:1177177
|
C | T | 7 | a0002c0008t0019g0031a0002c0012t0002g0050a0003c0015t0011g0015others(4): Show | 7 | HG02630.hp1 HG02723.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-17795C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177177 | ||||||
| chr16:1177272
|
A | G | 28 | a0001c0001t0002g0127a0002c0002t0001g0042a0002c0002t0018g0069others(25): Show | 28 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(25): Show |
intron_variant | MODIFIER | c.300-17700A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177272 | ||||||
| chr16:1177300
|
C | T | 7 | a0002c0010t0001g0319a0002c0010t0001g0320a0002c0011t0001g0225others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-17672C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177300 | ||||||
| chr16:1177389
|
G | A | 3 | a0002c0002t0001g0042a0003c0068t0004g0290a0059c0079t0004g0036 | 3 | HG02109.hp1 HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.300-17583G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177389 | ||||||
| chr16:1177509
|
G | A | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.300-17463G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177509 | ||||||
| chr16:1177570
|
C | T | 3 | a0002c0008t0001g0316a0002c0011t0005g0273a0002c0055t0001g0215 | 3 | HG02622.hp2 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-17402C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177570 | ||||||
| chr16:1177619
|
A | G | 2 | a0001c0001t0014g0293a0001c0001t0014g0299 | 2 | NA18954.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.300-17353A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177619 | ||||||
| chr16:1177632
|
G | A | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.300-17340G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177632 | ||||||
| chr16:1177635
|
C | T | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.300-17337C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177635 | ||||||
| chr16:1177668
|
C | T | 4 | a0002c0039t0003g0229a0003c0133t0004g0046a0006c0004t0004g0024others(1): Show | 4 | HG02027.hp1 HG02559.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-17304C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177668 | ||||||
| chr16:1177686
|
G | A | 1 | a0016c0134t0003g0308 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.300-17286G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177686 | ||||||
| chr16:1177696
|
A | G | 1 | a0001c0001t0001g0043 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.300-17276A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177696 | ||||||
| chr16:1177697
|
G | A | 5 | a0005c0003t0001g0154a0005c0003t0001g0186a0005c0003t0005g0255others(2): Show | 5 | HG01081.hp1 HG02004.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-17275G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177697 | ||||||
| chr16:1177951
|
G | T | 7 | a0002c0010t0001g0319a0002c0010t0001g0320a0002c0011t0001g0225others(4): Show | 7 | HG01069.hp1 HG01071.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-17021G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177951 | ||||||
| chr16:1177977
|
C | T | 1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-16995C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1177977 | ||||||
| chr16:1177990
|
G | GC | 5 | a0001c0001t0001g0327a0001c0001t0002g0094a0001c0088t0001g0016others(2): Show | 5 | HG00597.hp1 HG00597.hp2 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-16977dupC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1177990 | |||||
| chr16:1178032
|
A | ACCCCATG others(27): Show |
1 | a0008c0009t0007g0171 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.300-16931_300-1689 others(38): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178032 | |||||
| chr16:1178032
|
A | ACCCCATG others(28): Show |
1 | a0008c0009t0007g0163 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.300-16936_300-1690 others(39): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178032 | |||||
| chr16:1178037
|
A | C | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-16935A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178037 | ||||||
| chr16:1178043
|
C | T | 1 | a0001c0094t0016g0093 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.300-16929C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178043 | ||||||
| chr16:1178050
|
C | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.300-16922C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178050 | ||||||
| chr16:1178051
|
A | ACCCCGGA others(5): Show |
2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-16916_300-1690 others(16): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178051 | |||||
| chr16:1178059
|
A | AC | 74 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(71): Show | 74 | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(71): Show |
intron_variant | MODIFIER | c.300-16902dupC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178059 | |||||
| chr16:1178059
|
AC | A | 40 | a0001c0001t0001g0322a0001c0001t0002g0137a0001c0001t0002g0138others(37): Show | 41 | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.300-16902delC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178059 | |||||
| chr16:1178060
|
C | A | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.300-16912C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178060 | ||||||
| chr16:1178063
|
C | G | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.300-16909C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178063 | ||||||
| chr16:1178067
|
C | CG | 7 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(4): Show | 7 | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-16905_300-1690 others(5): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178067 | ||||||
| chr16:1178067
|
C | G | 11 | a0001c0001t0002g0127a0002c0002t0018g0069a0002c0007t0002g0237others(8): Show | 11 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.300-16905C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178067 | ||||||
| chr16:1178068
|
C | T | 5 | a0005c0003t0001g0192a0005c0003t0002g0173a0007c0005t0008g0258others(2): Show | 5 | HG01496.hp2 HG02683.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-16904C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178068 | ||||||
| chr16:1178082
|
T | C | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.300-16890T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178082 | ||||||
| chr16:1178139
|
C | T | 1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.300-16833C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178139 | ||||||
| chr16:1178148
|
C | T | 7 | a0002c0002t0001g0018a0002c0002t0001g0209a0002c0063t0001g0287others(4): Show | 7 | HG02486.hp2 HG02622.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-16824C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178148 | ||||||
| chr16:1178156
|
G | A | 15 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0018g0069others(12): Show | 15 | HG00558.hp1 HG01261.hp2 HG02074.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-16816G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178156 | ||||||
| chr16:1178157
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-16815C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178157 | ||||||
| chr16:1178170
|
TCTCCCGC others(96): Show |
T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-16787_300-1668 others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1178170 | |||||
| chr16:1178211
|
G | A | 1 | a0002c0002t0001g0009 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.300-16761G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178211 | ||||||
| chr16:1178213
|
C | T | 1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-16759C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178213 | ||||||
| chr16:1178235
|
G | A | 2 | a0002c0002t0001g0042a0003c0068t0004g0290 | 2 | HG02109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.300-16737G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178235 | ||||||
| chr16:1178251
|
C | T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-16721C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178251 | ||||||
| chr16:1178262
|
C | T | 4 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(1): Show | 4 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-16710C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178262 | ||||||
| chr16:1178278
|
C | T | 2 | a0003c0022t0020g0025a0003c0022t0028g0026 | 2 | HG02109.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-16694C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178278 | ||||||
| chr16:1178347
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.300-16625C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178347 | ||||||
| chr16:1178382
|
G | A | 8 | a0002c0012t0002g0332a0002c0012t0002g0333a0010c0024t0001g0300others(5): Show | 8 | HG02572.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-16590G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178382 | ||||||
| chr16:1178528
|
C | T | 1 | a0077c0048t0016g0032 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.300-16444C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178528 | ||||||
| chr16:1178529
|
G | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-16443G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178529 | ||||||
| chr16:1178738
|
C | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-16234C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178738 | ||||||
| chr16:1178760
|
A | G | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-16212A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178760 | ||||||
| chr16:1178771
|
CCT | C | 8 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(5): Show | 8 | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-16200_300-1619 others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178771 | ||||||
| chr16:1178821
|
G | A | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-16151G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178821 | ||||||
| chr16:1178869
|
G | A | 9 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0063t0001g0287others(6): Show | 9 | HG01884.hp1 HG01981.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-16103G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178869 | ||||||
| chr16:1178884
|
C | T | 3 | a0001c0001t0015g0116a0001c0001t0024g0106a0001c0097t0001g0077 | 3 | NA19000.hp1 NA19011.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.300-16088C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178884 | ||||||
| chr16:1178900
|
C | T | 22 | a0001c0070t0001g0092a0001c0094t0016g0093a0002c0002t0026g0241others(19): Show | 22 | HG00639.hp1 HG01891.hp1 HG02258.hp2 others(19): Show |
intron_variant | MODIFIER | c.300-16072C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178900 | ||||||
| chr16:1178931
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-16041G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1178931 | ||||||
| chr16:1179046
|
T | C | 1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.300-15926T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179046 | ||||||
| chr16:1179084
|
G | A | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-15888G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179084 | ||||||
| chr16:1179096
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.300-15876C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179096 | ||||||
| chr16:1179168
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-15804C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179168 | ||||||
| chr16:1179263
|
CAG | C | 4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-15708_300-1570 others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179263 | ||||||
| chr16:1179285
|
G | T | 1 | a0002c0108t0027g0104 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.300-15687G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179285 | ||||||
| chr16:1179393
|
T | G | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-15579T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179393 | ||||||
| chr16:1179418
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-15554C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179418 | ||||||
| chr16:1179484
|
G | A | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-15488G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179484 | ||||||
| chr16:1179573
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-15399C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179573 | ||||||
| chr16:1179574
|
G | A | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-15398G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179574 | ||||||
| chr16:1179613
|
G | T | 2 | a0002c0011t0005g0273a0002c0055t0001g0215 | 2 | HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-15359G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179613 | ||||||
| chr16:1179630
|
T | C | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-15342T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179630 | ||||||
| chr16:1179659
|
C | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-15313C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179659 | ||||||
| chr16:1179695
|
T | C | 4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-15277T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179695 | ||||||
| chr16:1179719
|
A | G | 44 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(41): Show | 44 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(41): Show |
intron_variant | MODIFIER | c.300-15253A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179719 | ||||||
| chr16:1179730
|
C | CT | 35 | a0001c0001t0001g0113a0001c0001t0001g0136a0001c0001t0001g0146others(32): Show | 35 | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(32): Show |
intron_variant | MODIFIER | c.300-15220dupT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1179730 | |||||
| chr16:1179730
|
CT | C | 11 | a0001c0001t0001g0281a0002c0058t0023g0027a0003c0022t0020g0025others(8): Show | 11 | HG01256.hp1 HG02109.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.300-15220delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1179730 | |||||
| chr16:1179730
|
CTTTTT | C | 16 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0018g0069others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-15224_300-1522 others(9): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1179730 | |||||
| chr16:1179778
|
A | G | 1 | a0052c0051t0001g0312 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.300-15194A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179778 | ||||||
| chr16:1179796
|
G | A | 1 | a0002c0013t0036g0206 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.300-15176G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179796 | ||||||
| chr16:1179816
|
C | T | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.300-15156C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179816 | ||||||
| chr16:1179925
|
C | T | 17 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.300-15047C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1179925 | ||||||
| chr16:1180036
|
G | A | 17 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.300-14936G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180036 | ||||||
| chr16:1180218
|
G | A | 3 | a0001c0001t0002g0196a0008c0023t0003g0045a0017c0066t0025g0232 | 3 | HG00544.hp2 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-14754G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180218 | ||||||
| chr16:1180305
|
C | T | 1 | a0057c0077t0001g0191 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.300-14667C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180305 | ||||||
| chr16:1180425
|
G | A | 1 | a0005c0003t0001g0192 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.300-14547G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180425 | ||||||
| chr16:1180674
|
C | T | 66 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(63): Show | 66 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(63): Show |
intron_variant | MODIFIER | c.300-14298C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180674 | ||||||
| chr16:1180830
|
C | T | 2 | a0002c0002t0001g0018a0002c0135t0043g0282 | 2 | HG03041.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.300-14142C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180830 | ||||||
| chr16:1180833
|
C | T | 15 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-14139C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180833 | ||||||
| chr16:1180856
|
C | T | 1 | a0002c0002t0002g0087 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.300-14116C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180856 | ||||||
| chr16:1180865
|
C | T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-14107C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180865 | ||||||
| chr16:1180875
|
C | T | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-14097C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180875 | ||||||
| chr16:1180887
|
C | T | 7 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(4): Show | 7 | HG01106.hp2 HG01123.hp1 HG01168.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-14085C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1180887 | ||||||
| chr16:1181085
|
T | A | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-13887T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181085 | ||||||
| chr16:1181239
|
G | A | 13 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0193others(10): Show | 13 | HG00280.hp1 HG01074.hp2 HG02027.hp2 others(10): Show |
intron_variant | MODIFIER | c.300-13733G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181239 | ||||||
| chr16:1181272
|
C | T | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-13700C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181272 | ||||||
| chr16:1181349
|
G | A | 1 | a0061c0080t0001g0227 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.300-13623G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181349 | ||||||
| chr16:1181364
|
G | A | 2 | a0008c0023t0003g0045a0017c0066t0025g0232 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.300-13608G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181364 | ||||||
| chr16:1181376
|
G | T | 1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.300-13596G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181376 | ||||||
| chr16:1181465
|
G | A | 1 | a0001c0001t0001g0281 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.300-13507G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181465 | ||||||
| chr16:1181586
|
C | T | 16 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-13386C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181586 | ||||||
| chr16:1181665
|
A | G | 2 | a0003c0022t0020g0025a0003c0022t0028g0026 | 2 | HG02109.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-13307A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181665 | ||||||
| chr16:1181683
|
G | A | 5 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(2): Show | 5 | HG02055.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-13289G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181683 | ||||||
| chr16:1181723
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.300-13249C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181723 | ||||||
| chr16:1181734
|
C | G | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-13238C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181734 | ||||||
| chr16:1181788
|
CTGTG | C | 8 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0281others(5): Show | 8 | HG02027.hp2 HG02129.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-13179_300-1317 others(8): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1181788 | |||||
| chr16:1181831
|
A | G | 5 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-13141A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181831 | ||||||
| chr16:1181851
|
A | G | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.300-13121A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181851 | ||||||
| chr16:1181886
|
C | T | 5 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-13086C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181886 | ||||||
| chr16:1181943
|
C | T | 2 | a0002c0035t0001g0172a0002c0035t0001g0288 | 2 | HG03486.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.300-13029C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181943 | ||||||
| chr16:1181943
|
CGCCCCCT others(11): Show |
C | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-13008_300-1299 others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1181943 | |||||
| chr16:1181945
|
CCCCCTCG others(10): Show |
C | 1 | a0032c0071t0001g0310 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.300-13022_300-1300 others(21): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1181945 | |||||
| chr16:1181947
|
C | T | 7 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0002t0002g0086others(4): Show | 7 | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-13025C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181947 | ||||||
| chr16:1181987
|
G | A | 127 | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0079others(124): Show | 128 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(125): Show |
intron_variant | MODIFIER | c.300-12985G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1181987 | ||||||
| chr16:1182055
|
A | C | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-12917A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182055 | ||||||
| chr16:1182100
|
G | A | 3 | a0002c0011t0005g0273a0002c0055t0001g0215a0003c0133t0004g0046 | 3 | HG02965.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-12872G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182100 | ||||||
| chr16:1182129
|
A | T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-12843A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182129 | ||||||
| chr16:1182176
|
C | T | 1 | a0042c0083t0003g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.300-12796C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182176 | ||||||
| chr16:1182181
|
C | T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-12791C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182181 | ||||||
| chr16:1182218
|
A | C | 1 | a0001c0086t0001g0023 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.300-12754A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182218 | ||||||
| chr16:1182263
|
C | T | 8 | a0001c0001t0002g0127a0002c0002t0018g0069a0002c0007t0002g0237others(5): Show | 8 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-12709C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182263 | ||||||
| chr16:1182301
|
C | T | 1 | a0002c0035t0001g0288 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.300-12671C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182301 | ||||||
| chr16:1182344
|
C | A | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.300-12628C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182344 | ||||||
| chr16:1182357
|
G | A | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-12615G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182357 | ||||||
| chr16:1182379
|
A | G | 5 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-12593A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182379 | ||||||
| chr16:1182408
|
G | C | 7 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0002t0002g0086others(4): Show | 7 | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-12564G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182408 | ||||||
| chr16:1182434
|
C | G | 5 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-12538C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182434 | ||||||
| chr16:1182438
|
G | A | 16 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-12534G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182438 | ||||||
| chr16:1182451
|
C | T | 1 | a0001c0001t0001g0329 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.300-12521C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182451 | ||||||
| chr16:1182475
|
C | T | 4 | a0015c0017t0003g0107a0015c0017t0003g0108a0015c0017t0003g0119others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-12497C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182475 | ||||||
| chr16:1182497
|
C | T | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.300-12475C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182497 | ||||||
| chr16:1182634
|
C | G | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.300-12338C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182634 | ||||||
| chr16:1182640
|
G | A | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.300-12332G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182640 | ||||||
| chr16:1182731
|
C | T | 4 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0281others(1): Show | 4 | HG02129.hp1 HG02135.hp2 NA18951.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-12241C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182731 | ||||||
| chr16:1182767
|
C | T | 4 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-12205C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182767 | ||||||
| chr16:1182863
|
C | T | 4 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-12109C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182863 | ||||||
| chr16:1182972
|
C | T | 4 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-12000C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1182972 | ||||||
| chr16:1183010
|
A | G | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-11962A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183010 | ||||||
| chr16:1183053
|
G | C | 1 | a0020c0021t0004g0235 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.300-11919G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183053 | ||||||
| chr16:1183125
|
G | C | 30 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0018others(27): Show | 30 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(27): Show |
intron_variant | MODIFIER | c.300-11847G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183125 | ||||||
| chr16:1183151
|
A | C | 18 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0018others(15): Show | 18 | HG01981.hp2 HG02055.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.300-11821A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183151 | ||||||
| chr16:1183157
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-11815C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183157 | ||||||
| chr16:1183275
|
C | T | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.300-11697C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183275 | ||||||
| chr16:1183315
|
C | G | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-11657C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183315 | ||||||
| chr16:1183316
|
C | T | 3 | a0002c0011t0005g0273a0002c0055t0001g0215a0003c0133t0004g0046 | 3 | HG02965.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-11656C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183316 | ||||||
| chr16:1183354
|
A | G | 334 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(331): Show | 337 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
intron_variant | MODIFIER | c.300-11618A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183354 | ||||||
| chr16:1183546
|
C | G | 1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.300-11426C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183546 | ||||||
| chr16:1183551
|
C | T | 8 | a0001c0001t0002g0127a0002c0002t0018g0069a0002c0007t0002g0237others(5): Show | 8 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-11421C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183551 | ||||||
| chr16:1183553
|
A | G | 2 | a0002c0011t0002g0201a0002c0011t0002g0203 | 2 | HG02809.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.300-11419A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183553 | ||||||
| chr16:1183581
|
G | T | 2 | a0006c0004t0004g0022a0006c0004t0004g0024 | 2 | HG02027.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.300-11391G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183581 | ||||||
| chr16:1183606
|
C | T | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.300-11366C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183606 | ||||||
| chr16:1183613
|
T | C | 3 | a0002c0011t0005g0273a0002c0055t0001g0215a0003c0133t0004g0046 | 3 | HG02965.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.300-11359T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183613 | ||||||
| chr16:1183634
|
A | G | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-11338A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183634 | ||||||
| chr16:1183636
|
G | A | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-11336G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183636 | ||||||
| chr16:1183679
|
C | A | 5 | a0002c0002t0001g0018a0003c0022t0020g0025a0003c0022t0028g0026others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-11293C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183679 | ||||||
| chr16:1183748
|
G | A | 7 | a0002c0012t0002g0050a0003c0015t0011g0015a0008c0023t0003g0129others(4): Show | 7 | HG02630.hp1 HG02723.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-11224G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183748 | ||||||
| chr16:1183885
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-11087G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183885 | ||||||
| chr16:1183911
|
T | C | 1 | a0010c0024t0001g0300 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.300-11061T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183911 | ||||||
| chr16:1183912
|
C | T | 1 | a0004c0006t0001g0305 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.300-11060C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183912 | ||||||
| chr16:1183941
|
C | A | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-11031C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183941 | ||||||
| chr16:1183966
|
G | A | 1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.300-11006G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183966 | ||||||
| chr16:1183987
|
G | C | 1 | a0002c0108t0027g0104 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.300-10985G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1183987 | ||||||
| chr16:1184037
|
C | T | 324 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(321): Show | 327 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
intron_variant | MODIFIER | c.300-10935C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184037 | ||||||
| chr16:1184139
|
A | G | 36 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(33): Show | 36 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-10833A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184139 | ||||||
| chr16:1184196
|
C | T | 4 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(1): Show | 4 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-10776C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184196 | ||||||
| chr16:1184200
|
T | C | 2 | a0002c0002t0026g0241a0016c0134t0003g0308 | 2 | HG03453.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.300-10772T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184200 | ||||||
| chr16:1184316
|
A | G | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-10656A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184316 | ||||||
| chr16:1184352
|
G | A | 16 | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0001g0284others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-10620G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184352 | ||||||
| chr16:1184457
|
A | G | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-10515A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184457 | ||||||
| chr16:1184501
|
C | T | 1 | a0053c0053t0001g0004 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.300-10471C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184501 | ||||||
| chr16:1184540
|
C | G | 4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-10432C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184540 | ||||||
| chr16:1184571
|
C | T | 1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-10401C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184571 | ||||||
| chr16:1184572
|
G | A | 9 | a0002c0002t0001g0017a0002c0002t0001g0042a0002c0011t0005g0273others(6): Show | 9 | HG02109.hp1 HG02258.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-10400G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184572 | ||||||
| chr16:1184582
|
A | G | 36 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(33): Show | 36 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-10390A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184582 | ||||||
| chr16:1184629
|
A | G | 3 | a0002c0013t0001g0175a0002c0013t0001g0176a0002c0013t0036g0206 | 3 | HG00140.hp2 HG01109.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.300-10343A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184629 | ||||||
| chr16:1184696
|
G | A | 2 | a0001c0001t0001g0307a0002c0135t0043g0282 | 2 | HG03041.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.300-10276G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184696 | ||||||
| chr16:1184734
|
G | A | 1 | a0069c0121t0005g0264 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.300-10238G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184734 | ||||||
| chr16:1184759
|
G | GGTCCAAA others(41): Show |
1 | a0074c0120t0037g0067 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.300-10211_300-1016 others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1184759 | |||||
| chr16:1184770
|
C | T | 7 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(4): Show | 7 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-10202C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184770 | ||||||
| chr16:1184783
|
G | A | 3 | a0002c0002t0001g0018a0002c0135t0043g0282a0008c0023t0003g0045 | 3 | HG03041.hp1 HG03041.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.300-10189G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184783 | ||||||
| chr16:1184831
|
G | T | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-10141G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184831 | ||||||
| chr16:1184842
|
G | A | 36 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(33): Show | 36 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-10130G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184842 | ||||||
| chr16:1184851
|
C | G | 1 | a0014c0018t0004g0311 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.300-10121C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184851 | ||||||
| chr16:1184871
|
A | G | 36 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(33): Show | 36 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-10101A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184871 | ||||||
| chr16:1184878
|
C | T | 9 | a0001c0001t0001g0133a0001c0001t0001g0150a0001c0001t0001g0307others(6): Show | 9 | HG01928.hp2 HG02080.hp2 NA18945.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-10094C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184878 | ||||||
| chr16:1184896
|
AT | A | 157 | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0079others(154): Show | 157 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.300-10066delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1184896 | |||||
| chr16:1184911
|
G | A | 36 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(33): Show | 36 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-10061G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184911 | ||||||
| chr16:1184990
|
C | G | 7 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0022t0020g0025others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9982C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1184990 | ||||||
| chr16:1185045
|
C | G | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-9927C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185045 | ||||||
| chr16:1185055
|
T | C | 327 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(324): Show | 330 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(327): Show |
intron_variant | MODIFIER | c.300-9917T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185055 | ||||||
| chr16:1185055
|
T | G | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9917T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185055 | ||||||
| chr16:1185092
|
C | T | 1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.300-9880C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185092 | ||||||
| chr16:1185144
|
C | A | 6 | a0002c0010t0001g0019a0002c0108t0027g0104a0015c0017t0003g0107others(3): Show | 6 | HG01516.hp1 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-9828C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185144 | ||||||
| chr16:1185162
|
T | C | 41 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(38): Show | 41 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.300-9810T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185162 | ||||||
| chr16:1185173
|
G | A | 1 | a0001c0001t0002g0097 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.300-9799G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185173 | ||||||
| chr16:1185194
|
C | T | 41 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(38): Show | 41 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.300-9778C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185194 | ||||||
| chr16:1185198
|
G | C | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9774G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185198 | ||||||
| chr16:1185199
|
C | G | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9773C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185199 | ||||||
| chr16:1185206
|
A | G | 10 | a0002c0002t0001g0114a0002c0078t0005g0250a0006c0004t0004g0003others(7): Show | 11 | HG00280.hp1 HG00280.hp2 HG00733.hp2 others(8): Show |
intron_variant | MODIFIER | c.300-9766A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185206 | ||||||
| chr16:1185301
|
C | T | 1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.300-9671C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185301 | ||||||
| chr16:1185314
|
T | C | 181 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(178): Show | 184 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.300-9658T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185314 | ||||||
| chr16:1185343
|
T | TCCTTTGT others(98): Show |
1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9606_300-9605i others(107): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185343 | |||||
| chr16:1185373
|
G | A | 37 | a0001c0001t0001g0322a0001c0001t0002g0121a0001c0001t0002g0127others(34): Show | 37 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(34): Show |
intron_variant | MODIFIER | c.300-9599G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185373 | ||||||
| chr16:1185399
|
C | T | 1 | a0045c0089t0005g0262 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.300-9573C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185399 | ||||||
| chr16:1185411
|
G | A | 5 | a0002c0002t0001g0042a0003c0068t0004g0290a0008c0056t0038g0224others(2): Show | 5 | HG02109.hp1 HG03130.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-9561G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185411 | ||||||
| chr16:1185415
|
C | G | 1 | a0002c0002t0002g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.300-9557C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185415 | ||||||
| chr16:1185456
|
G | C | 1 | a0003c0107t0004g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.300-9516G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185456 | ||||||
| chr16:1185462
|
G | A | 17 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0042others(14): Show | 17 | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.300-9510G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185462 | ||||||
| chr16:1185472
|
C | G | 4 | a0002c0002t0001g0042a0003c0068t0004g0290a0017c0066t0025g0232others(1): Show | 4 | HG02109.hp1 HG03130.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-9500C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185472 | ||||||
| chr16:1185482
|
G | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-9490G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185482 | ||||||
| chr16:1185484
|
C | T | 1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-9488C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185484 | ||||||
| chr16:1185500
|
G | GCC | 9 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0055t0001g0215others(6): Show | 9 | HG02258.hp1 HG02630.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9472_300-9471i others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185500 | ||||||
| chr16:1185500
|
G | GCCC | 4 | a0002c0008t0019g0031a0008c0023t0003g0045a0016c0026t0008g0279others(1): Show | 4 | HG01981.hp2 HG02280.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9472_300-9471i others(5): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185500 | ||||||
| chr16:1185501
|
T | C | 46 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0017others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(43): Show |
intron_variant | MODIFIER | c.300-9471T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185501 | ||||||
| chr16:1185501
|
T | TC | 16 | a0001c0001t0001g0219a0001c0001t0035g0078a0001c0031t0001g0218others(13): Show | 16 | HG00408.hp1 HG00438.hp1 HG00642.hp1 others(13): Show |
intron_variant | MODIFIER | c.300-9461dupC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185501 | |||||
| chr16:1185506
|
C | CA | 16 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(13): Show | 16 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-9466_300-9465i others(3): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185506 | ||||||
| chr16:1185509
|
C | G | 1 | a0001c0001t0009g0216 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.300-9463C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185509 | ||||||
| chr16:1185543
|
A | G | 1 | a0074c0120t0037g0067 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.300-9429A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185543 | ||||||
| chr16:1185554
|
G | C | 12 | a0002c0002t0001g0017a0002c0002t0001g0042a0002c0055t0001g0215others(9): Show | 12 | HG02109.hp1 HG02109.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.300-9418G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185554 | ||||||
| chr16:1185556
|
C | T | 39 | a0001c0001t0001g0302a0001c0001t0001g0322a0001c0001t0002g0127others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.300-9416C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185556 | ||||||
| chr16:1185570
|
G | A | 7 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(4): Show | 7 | HG01106.hp2 HG01123.hp1 HG01168.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-9402G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185570 | ||||||
| chr16:1185577
|
T | TGGCGGGC others(993): Show |
1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.300-9389_300-9388i others(1002): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGC others(818): Show |
1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.300-9389_300-9388i others(827): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGC others(690): Show |
1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.300-9389_300-9388i others(699): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(404): Show |
1 | a0002c0002t0002g0243 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(413): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(646): Show |
1 | a0001c0001t0002g0055 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(655): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(400): Show |
1 | a0001c0001t0002g0098 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(409): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(404): Show |
20 | a0001c0001t0001g0198a0001c0001t0001g0236a0001c0001t0001g0315others(17): Show | 21 | HG00621.hp1 HG00621.hp2 HG01081.hp2 others(18): Show |
intron_variant | MODIFIER | c.300-9386_300-9385i others(413): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(508): Show |
1 | a0001c0001t0015g0134 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(517): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(550): Show |
1 | a0001c0091t0029g0328 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(559): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(257): Show |
1 | a0057c0077t0001g0191 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(266): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(457): Show |
1 | a0001c0001t0001g0052 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1014): Show |
1 | a0001c0001t0014g0299 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(1023): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(563): Show |
2 | a0001c0001t0002g0068a0006c0004t0011g0057 | 2 | NA18955.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.300-9386_300-9385i others(572): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(153): Show |
1 | a0001c0001t0002g0090 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(162): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(149): Show |
1 | a0002c0007t0002g0237 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(158): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(550): Show |
1 | a0001c0001t0001g0150 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(559): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(350): Show |
1 | a0011c0129t0012g0122 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(359): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(400): Show |
1 | a0066c0112t0002g0120 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(409): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(404): Show |
4 | a0001c0001t0001g0327a0001c0001t0002g0097a0001c0001t0005g0268others(1): Show | 4 | HG00597.hp1 HG02056.hp2 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9386_300-9385i others(413): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(400): Show |
1 | a0002c0063t0001g0287 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(409): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(346): Show |
2 | a0002c0002t0001g0284a0054c0074t0001g0283 | 2 | HG01884.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.300-9386_300-9385i others(355): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(558): Show |
1 | a0003c0028t0004g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(567): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(669): Show |
1 | a0002c0002t0001g0005 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(678): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(457): Show |
5 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(2): Show | 5 | HG02735.hp1 NA18944.hp2 NA18967.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-9386_300-9385i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(623): Show |
1 | a0001c0001t0002g0065 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(632): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(418): Show |
1 | a0074c0120t0037g0067 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(427): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(457): Show |
3 | a0002c0057t0002g0100a0012c0036t0001g0035a0048c0093t0002g0089 | 3 | HG00639.hp2 NA18943.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.300-9386_300-9385i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(818): Show |
1 | a0004c0006t0002g0096 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(827): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(2161): Show |
1 | a0006c0004t0004g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(2170): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(3627): Show |
1 | a0006c0004t0004g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(3636): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(667): Show |
1 | a0001c0001t0035g0078 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(676): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(556): Show |
1 | a0002c0014t0007g0123 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(565): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(568): Show |
1 | a0001c0001t0002g0066 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(577): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(841): Show |
1 | a0002c0043t0001g0204 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(850): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(457): Show |
3 | a0001c0001t0015g0116a0001c0001t0024g0106a0001c0097t0001g0077 | 3 | NA19000.hp1 NA19011.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.300-9386_300-9385i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(510): Show |
1 | a0012c0036t0001g0011 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.300-9386_300-9385i others(519): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(96): Show |
1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(105): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1561): Show |
1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.300-9386_300-9385i others(1570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(849): Show |
1 | a0001c0092t0009g0306 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.300-9378_300-9377i others(858): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(599): Show |
1 | a0005c0003t0001g0179 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(608): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1453): Show |
1 | a0002c0002t0002g0087 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1462): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(549): Show |
1 | a0001c0001t0001g0211 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(558): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(993): Show |
1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1002): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1938): Show |
1 | a0002c0002t0001g0157 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1947): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(96): Show |
3 | a0002c0013t0001g0176a0002c0013t0036g0206a0008c0009t0007g0171 | 3 | HG00140.hp2 HG01109.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(105): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(149): Show |
1 | a0002c0035t0001g0288 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(158): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(203): Show |
1 | a0003c0107t0004g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(212): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(404): Show |
1 | a0002c0014t0007g0083 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(413): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1416): Show |
3 | a0001c0001t0002g0152a0014c0018t0004g0034a0014c0018t0004g0311 | 3 | NA18964.hp1 NA18969.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(1425): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(787): Show |
1 | a0001c0001t0001g0329 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(796): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(300): Show |
1 | a0001c0001t0002g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(309): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(609): Show |
1 | a0002c0013t0001g0175 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(618): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(257): Show |
1 | a0009c0075t0042g0162 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(266): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(703): Show |
1 | a0001c0001t0002g0238 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(712): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1041): Show |
1 | a0007c0005t0008g0258 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1050): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(988): Show |
1 | a0007c0005t0008g0259 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(997): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(199): Show |
1 | a0008c0009t0007g0163 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(208): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1163): Show |
1 | a0002c0035t0001g0172 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1172): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1024): Show |
1 | a0001c0032t0021g0266 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1033): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1078): Show |
1 | a0001c0041t0001g0220 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1087): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1078): Show |
1 | a0001c0032t0021g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1087): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(203): Show |
2 | a0023c0029t0001g0183a0023c0029t0001g0194 | 2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(212): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1420): Show |
1 | a0014c0018t0011g0151 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1429): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1098): Show |
1 | a0025c0047t0005g0247 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1107): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(851): Show |
1 | a0042c0083t0003g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(860): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(526): Show |
1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(535): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(925): Show |
1 | a0007c0005t0008g0257 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(934): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(359): Show |
1 | a0005c0003t0002g0173 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(368): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(669): Show |
6 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(3): Show | 6 | HG01106.hp2 HG01168.hp1 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9376_300-9375i others(678): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(752): Show |
1 | a0007c0005t0003g0166 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(761): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(768): Show |
1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(777): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(998): Show |
1 | a0001c0001t0002g0161 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1007): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(798): Show |
1 | a0001c0001t0002g0143 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(807): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(898): Show |
1 | a0002c0013t0001g0170 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(907): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(851): Show |
2 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(860): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(805): Show |
1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(814): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(2300): Show |
1 | a0001c0086t0001g0023 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(2309): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(950): Show |
1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(959): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(305): Show |
1 | a0008c0009t0008g0253 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(314): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(149): Show |
1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(158): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(793): Show |
1 | a0013c0084t0006g0168 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(802): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1094): Show |
1 | a0007c0005t0008g0277 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1103): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(672): Show |
1 | a0005c0003t0001g0192 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(681): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(516): Show |
1 | a0008c0009t0003g0174 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(525): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(46): Show |
1 | a0010c0131t0002g0331 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(798): Show |
1 | a0036c0103t0001g0139 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(807): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(890): Show |
1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(899): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(801): Show |
1 | a0005c0003t0009g0180 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(810): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1039): Show |
1 | a0001c0001t0009g0213 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1048): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1519): Show |
1 | a0002c0002t0002g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1528): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1572): Show |
1 | a0002c0002t0001g0110 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1581): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(509): Show |
1 | a0002c0010t0005g0270 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(518): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(1626): Show |
1 | a0001c0001t0001g0200 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(1635): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGCGGGT others(311): Show |
1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(320): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGTGGGT others(1199): Show |
1 | a0001c0001t0001g0322 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.300-9393_300-9392i others(1208): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGTGGGT others(1577): Show |
2 | a0003c0028t0004g0325a0030c0067t0020g0323 | 2 | HG02055.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-9393_300-9392i others(1586): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185577
|
T | TGGTGGGT others(1573): Show |
1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.300-9393_300-9392i others(1582): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185577 | |||||
| chr16:1185581
|
G | GGGTGAGT others(851): Show |
1 | a0062c0072t0001g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(860): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185581 | |||||
| chr16:1185584
|
T | C | 6 | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0001t0001g0231others(3): Show | 6 | HG00733.hp1 HG00738.hp1 HG01168.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9388T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185584 | ||||||
| chr16:1185587
|
G | A | 68 | a0001c0001t0001g0079a0001c0001t0001g0159a0001c0001t0001g0296others(65): Show | 68 | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.300-9385G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185587 | ||||||
| chr16:1185592
|
C | T | 7 | a0002c0011t0005g0273a0002c0012t0001g0318a0002c0012t0002g0050others(4): Show | 7 | HG02630.hp1 HG02818.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9380C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185592 | ||||||
| chr16:1185595
|
T | TCGGCATG others(138): Show |
1 | a0001c0001t0022g0298 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(147): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185595 | |||||
| chr16:1185595
|
T | TCGGCATG others(191): Show |
2 | a0001c0001t0001g0296a0009c0073t0012g0074 | 2 | HG02040.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.300-9376_300-9375i others(200): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185595 | |||||
| chr16:1185595
|
T | TCGGCATG others(238): Show |
1 | a0020c0021t0004g0147 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.300-9376_300-9375i others(247): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185595 | |||||
| chr16:1185595
|
T | TCGGCATG others(438): Show |
1 | a0001c0001t0002g0196 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.300-9376_300-9375i others(447): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185595 | |||||
| chr16:1185597
|
A | G | 203 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0079others(200): Show | 204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.300-9375A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185597 | ||||||
| chr16:1185600
|
G | A | 174 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0079others(171): Show | 175 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.300-9372G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185600 | ||||||
| chr16:1185604
|
G | A | 189 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(186): Show | 190 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(187): Show |
intron_variant | MODIFIER | c.300-9368G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185604 | ||||||
| chr16:1185606
|
AG | A | 172 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(169): Show | 173 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(170): Show |
intron_variant | MODIFIER | c.300-9362delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185606 | |||||
| chr16:1185607
|
G | GGGCCGGG others(840): Show |
1 | a0047c0082t0003g0072 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.300-9363_300-9362i others(849): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(416): Show |
1 | a0002c0002t0001g0244 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.300-9363_300-9362i others(425): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(148): Show |
1 | a0010c0062t0001g0075 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.300-9363_300-9362i others(157): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(98): Show |
1 | a0038c0101t0008g0261 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.300-9363_300-9362i others(107): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(45): Show |
5 | a0002c0010t0001g0019a0015c0017t0003g0107a0015c0017t0003g0108others(2): Show | 5 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-9363_300-9362i others(54): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(360): Show |
1 | a0004c0006t0001g0305 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.300-9363_300-9362i others(369): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(98): Show |
2 | a0002c0039t0003g0229a0065c0042t0003g0230 | 2 | HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.300-9363_300-9362i others(107): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(45): Show |
1 | a0001c0001t0001g0112 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.300-9363_300-9362i others(54): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(466): Show |
1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.300-9363_300-9362i others(475): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185607
|
G | GGGCCGGG others(675): Show |
1 | a0040c0100t0007g0111 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.300-9363_300-9362i others(684): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185607 | |||||
| chr16:1185615
|
A | G | 130 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0124others(127): Show | 130 | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.300-9357A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185615 | ||||||
| chr16:1185624
|
A | G | 19 | a0001c0001t0001g0322a0001c0001t0002g0095a0001c0001t0002g0127others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.300-9348A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185624 | ||||||
| chr16:1185625
|
C | T | 19 | a0001c0001t0001g0322a0001c0001t0002g0095a0001c0001t0002g0127others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.300-9347C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185625 | ||||||
| chr16:1185628
|
G | A | 15 | a0001c0001t0001g0322a0001c0001t0002g0095a0001c0001t0002g0127others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.300-9344G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185628 | ||||||
| chr16:1185629
|
G | C | 19 | a0001c0001t0001g0322a0001c0001t0002g0095a0001c0001t0002g0127others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.300-9343G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185629 | ||||||
| chr16:1185638
|
C | CGAGTAGA others(193): Show |
1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(202): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | CGAGTAGA others(1282): Show |
1 | a0002c0014t0008g0267 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(1291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | CGAGTAGA others(493): Show |
1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(502): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | CGAGTAGA others(484): Show |
2 | a0003c0022t0028g0026a0029c0065t0007g0202 | 2 | HG02109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.300-9324_300-9323i others(493): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | CGAGTAGA others(452): Show |
1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-9324_300-9323i others(461): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | CGAGTAGA others(2267): Show |
1 | a0037c0081t0001g0088 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.300-9319_300-9318i others(2276): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185638 | |||||
| chr16:1185638
|
C | T | 151 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(148): Show | 153 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(150): Show |
intron_variant | MODIFIER | c.300-9334C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185638 | ||||||
| chr16:1185641
|
G | A | 7 | a0001c0001t0001g0307a0001c0001t0002g0127a0002c0007t0010g0062others(4): Show | 7 | HG00558.hp1 HG00558.hp2 HG04204.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9331G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185641 | ||||||
| chr16:1185645
|
ACGGT | A | 29 | a0001c0001t0001g0118a0001c0001t0001g0296a0001c0001t0002g0196others(26): Show | 29 | HG00544.hp2 HG01981.hp2 HG02040.hp1 others(26): Show |
intron_variant | MODIFIER | c.300-9323_300-9320d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185645 | |||||
| chr16:1185647
|
G | GGCATGTG others(138): Show |
1 | a0001c0001t0001g0281 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(147): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(1038): Show |
1 | a0009c0116t0006g0188 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(1047): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(189): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(198): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(92): Show |
3 | a0002c0011t0005g0273a0002c0025t0001g0226a0003c0133t0004g0046 | 3 | HG02965.hp1 HG02965.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.300-9324_300-9323i others(101): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(251): Show |
1 | a0002c0012t0002g0333 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(260): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(198): Show |
1 | a0002c0012t0002g0332 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.300-9324_300-9323i others(207): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(199): Show |
1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-9324_300-9323i others(208): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185647
|
G | GGCATGTG others(725): Show |
1 | a0001c0001t0001g0133 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.300-9324_300-9323i others(734): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185647 | |||||
| chr16:1185649
|
T | A | 10 | a0001c0001t0001g0133a0001c0001t0001g0281a0002c0011t0005g0273others(7): Show | 10 | HG01928.hp2 HG02451.hp1 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-9323T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185649 | ||||||
| chr16:1185649
|
T | TCAGCGTG others(42): Show |
2 | a0008c0056t0038g0224a0009c0076t0006g0142 | 2 | HG03209.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.300-9322_300-9321i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(2208): Show |
2 | a0006c0004t0004g0285a0006c0004t0004g0286 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.300-9322_300-9321i others(2217): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(42): Show |
1 | a0002c0008t0001g0144 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.300-9322_300-9321i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(679): Show |
1 | a0007c0005t0003g0181 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(688): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(725): Show |
1 | a0007c0005t0008g0272 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.300-9322_300-9321i others(734): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(487): Show |
1 | a0001c0001t0009g0216 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(496): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(2316): Show |
1 | a0001c0001t0010g0135 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.300-9322_300-9321i others(2325): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(1493): Show |
1 | a0001c0001t0001g0182 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.300-9322_300-9321i others(1502): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(2226): Show |
1 | a0053c0053t0001g0004 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.300-9322_300-9321i others(2235): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(780): Show |
1 | a0005c0003t0001g0186 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(789): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(961): Show |
1 | a0001c0001t0001g0044 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(970): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(927): Show |
1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(936): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(981): Show |
1 | a0004c0006t0002g0234 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(990): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(2277): Show |
1 | a0001c0001t0001g0136 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(2286): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCAGCGTG others(611): Show |
1 | a0075c0119t0001g0313 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.300-9322_300-9321i others(620): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
T | TCGGCGTG others(775): Show |
1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.300-9319_300-9318i others(784): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185649
|
TCGGCATG others(445): Show |
T | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.300-9318_300-8867d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185649 | |||||
| chr16:1185651
|
G | A | 6 | a0002c0008t0019g0031a0002c0135t0043g0282a0003c0015t0017g0271others(3): Show | 6 | HG01261.hp2 HG02486.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9321G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185651 | ||||||
| chr16:1185654
|
A | ATGCATAG others(196): Show |
1 | a0072c0123t0006g0059 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(205): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185654 | |||||
| chr16:1185654
|
A | ATGCATAG others(503): Show |
1 | a0035c0104t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(512): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185654 | |||||
| chr16:1185654
|
A | G | 145 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(142): Show | 147 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.300-9318A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185654 | ||||||
| chr16:1185655
|
T | TGTGTAGG others(39): Show |
1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-9316_300-9315i others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185655 | |||||
| chr16:1185655
|
T | TGTGTAGG others(85): Show |
2 | a0002c0002t0002g0086a0003c0022t0020g0025 | 2 | HG02886.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.300-9316_300-9315i others(94): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185655 | |||||
| chr16:1185655
|
TGCATAGG others(203): Show |
T | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.300-9314_300-9105d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185655 | |||||
| chr16:1185657
|
C | T | 52 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0136others(49): Show | 52 | HG00099.hp1 HG00544.hp2 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.300-9315C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185657 | ||||||
| chr16:1185658
|
A | ATAGGGCC others(42): Show |
3 | a0002c0039t0003g0229a0004c0006t0001g0301a0065c0042t0003g0230 | 3 | HG02559.hp2 HG02717.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(769): Show |
1 | a0001c0001t0001g0292 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(778): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(878): Show |
1 | a0002c0007t0003g0071 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(887): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(921): Show |
2 | a0007c0005t0008g0258a0007c0005t0008g0277 | 2 | HG03017.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(930): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(922): Show |
1 | a0007c0005t0008g0259 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(931): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(188): Show |
1 | a0001c0001t0022g0298 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(197): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(492): Show |
1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(501): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(145): Show |
2 | a0004c0006t0001g0305a0040c0100t0007g0111 | 2 | HG01069.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(154): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(486): Show |
1 | a0020c0021t0004g0147 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(495): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(890): Show |
1 | a0002c0011t0002g0201 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(899): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(731): Show |
1 | a0002c0011t0002g0203 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(740): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1596): Show |
1 | a0005c0003t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1605): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1131): Show |
1 | a0007c0005t0003g0149 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1140): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(337): Show |
1 | a0011c0020t0041g0297 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(346): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1476): Show |
1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1485): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2274): Show |
1 | a0001c0001t0001g0212 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2283): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1081): Show |
1 | a0022c0114t0006g0189 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1090): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(184): Show |
1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(42): Show |
1 | a0002c0025t0001g0223 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1449): Show |
1 | a0001c0001t0001g0307 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1458): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(88): Show |
1 | a0001c0001t0001g0113 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(97): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(189): Show |
1 | a0024c0037t0004g0056 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(198): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(429): Show |
1 | a0004c0006t0001g0199 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(438): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2034): Show |
1 | a0002c0002t0001g0114 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2043): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2035): Show |
1 | a0002c0078t0005g0250 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2044): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(188): Show |
4 | a0009c0073t0012g0074a0011c0020t0012g0335a0012c0038t0001g0295others(1): Show | 4 | HG01361.hp2 HG02040.hp2 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9309_300-9308i others(197): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(342): Show |
1 | a0001c0001t0034g0117 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(351): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1302): Show |
1 | a0079c0136t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1311): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(387): Show |
3 | a0001c0001t0002g0084a0001c0001t0002g0091a0001c0001t0005g0248 | 3 | HG02071.hp1 HG02155.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(396): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2494): Show |
1 | a0006c0004t0004g0003 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(2503): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1902): Show |
1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1911): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(579): Show |
1 | a0001c0001t0001g0043 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(588): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(608): Show |
1 | a0069c0121t0005g0264 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(617): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(945): Show |
1 | a0005c0003t0005g0255 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(954): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(184): Show |
1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1646): Show |
1 | a0005c0050t0001g0125 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1655): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1791): Show |
1 | a0045c0089t0005g0262 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1800): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1646): Show |
1 | a0001c0001t0001g0153 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1655): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1799): Show |
1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1808): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(943): Show |
1 | a0022c0117t0006g0037 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(952): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(241): Show |
2 | a0001c0001t0001g0079a0039c0099t0006g0054 | 2 | NA19007.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(250): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(718): Show |
1 | a0002c0008t0001g0316 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(727): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1137): Show |
1 | a0001c0001t0001g0231 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1146): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(241): Show |
1 | a0071c0124t0003g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(250): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(358): Show |
1 | a0010c0131t0002g0331 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(367): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1877): Show |
1 | a0007c0052t0007g0053 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1886): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1699): Show |
1 | a0002c0008t0001g0185 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1708): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(764): Show |
2 | a0005c0003t0001g0192a0005c0003t0002g0173 | 2 | HG02683.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(773): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(294): Show |
1 | a0011c0020t0006g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(303): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(984): Show |
1 | a0056c0115t0003g0190 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(993): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1904): Show |
1 | a0005c0003t0001g0021 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1913): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(978): Show |
1 | a0024c0037t0004g0280 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(987): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(744): Show |
1 | a0001c0001t0001g0208 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(753): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1858): Show |
1 | a0001c0001t0001g0207 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1867): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(605): Show |
3 | a0008c0009t0007g0163a0008c0009t0007g0171a0008c0009t0008g0253 | 3 | HG01346.hp2 HG03017.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(614): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(658): Show |
1 | a0009c0016t0013g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(667): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1094): Show |
1 | a0051c0054t0003g0130 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1103): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1718): Show |
1 | a0002c0007t0001g0030 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1727): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1667): Show |
1 | a0002c0007t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1676): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2557): Show |
1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2566): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(611): Show |
1 | a0002c0013t0001g0175 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(620): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(605): Show |
1 | a0002c0002t0018g0069 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(614): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(254): Show |
1 | a0002c0013t0036g0206 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(263): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(201): Show |
1 | a0010c0024t0001g0300 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(210): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(413): Show |
1 | a0002c0008t0002g0233 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(422): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(201): Show |
1 | a0002c0013t0001g0176 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(210): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(586): Show |
1 | a0002c0002t0001g0209 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(595): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(500): Show |
1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(509): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(713): Show |
2 | a0001c0001t0001g0195a0001c0001t0001g0314 | 2 | HG01516.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(722): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(947): Show |
1 | a0052c0051t0001g0312 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(956): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(661): Show |
1 | a0001c0031t0001g0217 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(670): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(194): Show |
1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(203): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(95): Show |
1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(104): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(447): Show |
1 | a0002c0002t0001g0141 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(456): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(822): Show |
1 | a0004c0006t0001g0294 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(831): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(95): Show |
1 | a0010c0062t0001g0075 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(104): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(408): Show |
1 | a0016c0134t0003g0308 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(417): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(764): Show |
3 | a0002c0002t0001g0157a0009c0075t0042g0162a0057c0077t0001g0191 | 3 | HG02056.hp1 HG04199.hp2 NA18944.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(773): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(817): Show |
1 | a0013c0084t0006g0168 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(826): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(718): Show |
1 | a0002c0109t0001g0080 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(727): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(593): Show |
1 | a0001c0094t0016g0093 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(602): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(501): Show |
1 | a0002c0108t0027g0104 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(510): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1347): Show |
1 | a0008c0009t0003g0174 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1356): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(251): Show |
1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(260): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1097): Show |
1 | a0003c0107t0004g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1106): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1303): Show |
1 | a0001c0001t0002g0094 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1312): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2080): Show |
1 | a0002c0007t0003g0070 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2089): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(798): Show |
1 | a0001c0001t0014g0293 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(807): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1091): Show |
2 | a0002c0002t0001g0324a0043c0085t0003g0048 | 2 | HG02723.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(1100): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(148): Show |
1 | a0004c0019t0001g0222 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(157): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1688): Show |
3 | a0001c0001t0001g0159a0033c0106t0001g0160a0049c0095t0002g0197 | 3 | NA18948.hp1 NA18959.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.300-9309_300-9308i others(1697): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(42): Show |
5 | a0002c0010t0001g0019a0015c0017t0003g0107a0015c0017t0003g0108others(2): Show | 5 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-9309_300-9308i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(831): Show |
1 | a0001c0001t0001g0146 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(840): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2565): Show |
1 | a0001c0001t0002g0158 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2574): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(1831): Show |
1 | a0001c0001t0001g0124 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.300-9309_300-9308i others(1840): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(337): Show |
1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(346): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGCC others(2196): Show |
1 | a0032c0071t0001g0310 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(2205): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
1 | a0001c0092t0009g0306 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(829): Show |
1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(838): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(838): Show |
1 | a0001c0032t0021g0265 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(847): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(344): Show |
1 | a0002c0043t0001g0204 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(353): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
1 | a0002c0013t0001g0170 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
2 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
17 | a0001c0001t0001g0150a0001c0001t0001g0211a0001c0001t0001g0329others(14): Show | 17 | HG00639.hp2 HG01071.hp1 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(883): Show |
1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(892): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
1 | a0001c0001t0001g0200 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(839): Show |
1 | a0014c0018t0011g0151 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(848): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
3 | a0001c0001t0002g0152a0014c0018t0004g0034a0014c0018t0004g0311 | 3 | NA18964.hp1 NA18969.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(1190): Show |
1 | a0006c0004t0004g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(1199): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(837): Show |
1 | a0042c0083t0003g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(846): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(348): Show |
1 | a0001c0001t0002g0090 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.300-9265_300-9264i others(357): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(729): Show |
1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.300-9299_300-9298i others(738): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(873): Show |
1 | a0001c0031t0001g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.300-9304_300-9303i others(882): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | ATAGGGGC others(836): Show |
4 | a0002c0035t0001g0172a0002c0035t0001g0288a0023c0029t0001g0183others(1): Show | 4 | HG00735.hp1 HG01167.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-9304_300-9303i others(845): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185658 | |||||
| chr16:1185658
|
A | G | 74 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0136others(71): Show | 74 | HG00099.hp1 HG00544.hp2 HG00642.hp2 others(71): Show |
intron_variant | MODIFIER | c.300-9314A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185658 | ||||||
| chr16:1185660
|
AG | A | 22 | a0001c0001t0001g0112a0001c0001t0001g0193a0001c0001t0001g0302others(19): Show | 22 | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.300-9308delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185660 | |||||
| chr16:1185661
|
G | GGGCCGGG others(206): Show |
1 | a0001c0001t0001g0177 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.300-9309_300-9308i others(215): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185661 | |||||
| chr16:1185667
|
G | A | 3 | a0001c0001t0001g0146a0001c0001t0001g0219a0051c0054t0003g0130 | 3 | HG00735.hp2 NA19004.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.300-9305G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185667 | ||||||
| chr16:1185667
|
G | GGAGGCAG others(341): Show |
1 | a0001c0001t0014g0299 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.300-9300_300-9299i others(350): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(341): Show |
2 | a0001c0001t0001g0052a0001c0001t0005g0269 | 2 | NA19005.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.300-9268_300-9267i others(350): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(343): Show |
1 | a0001c0001t0024g0106 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(352): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(340): Show |
1 | a0007c0005t0008g0257 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(349): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(342): Show |
1 | a0018c0027t0001g0165 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.300-9268_300-9267i others(351): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(341): Show |
53 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(50): Show | 54 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(51): Show |
intron_variant | MODIFIER | c.300-9268_300-9267i others(350): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGG others(341): Show |
1 | a0001c0001t0002g0097 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.300-9285_300-9284i others(350): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGT others(233): Show |
4 | a0001c0001t0002g0066a0001c0001t0002g0098a0001c0001t0015g0134others(1): Show | 4 | HG02148.hp2 HG02280.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-9299_300-9298i others(242): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGAGGCGT others(235): Show |
1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.300-9299_300-9298i others(244): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185667
|
G | GGGGGCGG others(340): Show |
1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.300-9304_300-9303i others(349): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185667 | |||||
| chr16:1185669
|
A | G | 17 | a0001c0001t0001g0112a0001c0001t0001g0177a0001c0001t0001g0193others(14): Show | 17 | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.300-9303A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185669 | ||||||
| chr16:1185674
|
G | T | 1 | a0001c0001t0002g0065 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.300-9298G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185674 | ||||||
| chr16:1185678
|
G | A | 9 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0010t0001g0319others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9294G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185678 | ||||||
| chr16:1185679
|
T | C | 9 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0010t0001g0319others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9293T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185679 | ||||||
| chr16:1185682
|
A | G | 9 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0010t0001g0319others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9290A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185682 | ||||||
| chr16:1185683
|
C | CGGGGCGG others(143): Show |
1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-9270_300-9269i others(152): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185683 | |||||
| chr16:1185683
|
C | G | 9 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0010t0001g0319others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9289C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185683 | ||||||
| chr16:1185683
|
C | T | 4 | a0001c0001t0002g0095a0003c0022t0020g0025a0004c0006t0002g0096others(1): Show | 4 | HG03516.hp2 HG04199.hp1 NA18747.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9289C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185683 | ||||||
| chr16:1185684
|
G | A | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9288G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185684 | ||||||
| chr16:1185689
|
G | A | 7 | a0001c0001t0001g0113a0002c0002t0001g0017a0002c0010t0001g0019others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9283G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185689 | ||||||
| chr16:1185689
|
G | GGGTGAGT others(341): Show |
1 | a0001c0001t0035g0078 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.300-9268_300-9267i others(350): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185689 | |||||
| chr16:1185690
|
G | A | 1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.300-9282G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185690 | ||||||
| chr16:1185692
|
T | C | 6 | a0001c0001t0002g0127a0002c0007t0010g0062a0003c0015t0017g0271others(3): Show | 6 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9280T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185692 | ||||||
| chr16:1185695
|
G | A | 3 | a0002c0007t0002g0237a0004c0006t0001g0291a0008c0023t0003g0045 | 3 | HG04204.hp1 NA18522.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.300-9277G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185695 | ||||||
| chr16:1185699
|
ACGGT | A | 20 | a0001c0001t0002g0127a0001c0040t0001g0228a0002c0007t0010g0062others(17): Show | 20 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(17): Show |
intron_variant | MODIFIER | c.300-9269_300-9266d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185699 | |||||
| chr16:1185701
|
G | GGCGTAGG others(35): Show |
1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.300-9270_300-9269i others(44): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185701 | |||||
| chr16:1185701
|
G | GGCGTAGG others(140): Show |
1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-9270_300-9269i others(149): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185701 | |||||
| chr16:1185701
|
GGTCGGCG others(1): Show |
G | 20 | a0001c0001t0001g0281a0002c0002t0001g0018a0002c0002t0001g0042others(17): Show | 20 | HG00639.hp1 HG02109.hp1 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.300-9269_300-9262d others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185701 | |||||
| chr16:1185703
|
T | A | 1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.300-9269T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185703 | ||||||
| chr16:1185703
|
T | TCGGCATG others(142): Show |
1 | a0001c0001t0001g0112 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.300-9265_300-9264i others(151): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185703 | |||||
| chr16:1185703
|
T | TCGGCATG others(251): Show |
1 | a0010c0024t0002g0334 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.300-9265_300-9264i others(260): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185703 | |||||
| chr16:1185703
|
T | TCGGCATG others(42): Show |
1 | a0002c0108t0027g0104 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.300-9265_300-9264i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185703 | |||||
| chr16:1185703
|
T | TCGGCGTG others(1488): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(1497): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185703 | |||||
| chr16:1185704
|
C | A | 1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-9268C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185704 | ||||||
| chr16:1185705
|
G | A | 13 | a0001c0001t0002g0156a0002c0002t0001g0017a0002c0008t0019g0031others(10): Show | 13 | HG00642.hp1 HG01081.hp2 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.300-9267G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185705 | ||||||
| chr16:1185706
|
G | A | 1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-9266G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185706 | ||||||
| chr16:1185708
|
G | A | 43 | a0001c0001t0001g0113a0001c0001t0001g0177a0001c0001t0001g0193others(40): Show | 43 | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.300-9264G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185708 | ||||||
| chr16:1185709
|
T | TGCATAGG others(137): Show |
1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(146): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCATAGG others(88): Show |
4 | a0001c0001t0001g0113a0001c0094t0016g0093a0002c0002t0001g0209others(1): Show | 4 | HG02622.hp1 HG03486.hp2 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9261_300-9260i others(97): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCATAGG others(141): Show |
1 | a0002c0008t0001g0316 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(150): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCATAGG others(620): Show |
1 | a0016c0134t0003g0308 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(629): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCATAGG others(191): Show |
2 | a0002c0012t0001g0318a0002c0012t0002g0050 | 2 | HG02630.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.300-9261_300-9260i others(200): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCGTAGG others(619): Show |
1 | a0003c0022t0028g0026 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.300-9241_300-9240i others(628): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185709
|
T | TGCGTAGG others(619): Show |
1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-9241_300-9240i others(628): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185709 | |||||
| chr16:1185711
|
C | CATAGGGC others(42): Show |
1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(42): Show |
12 | a0001c0001t0001g0231a0001c0001t0001g0292a0001c0001t0001g0307others(9): Show | 12 | HG01069.hp2 HG01884.hp2 HG02080.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-9261_300-9260i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(1658): Show |
1 | a0001c0001t0001g0302 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(1667): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(510): Show |
1 | a0004c0006t0001g0303 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(519): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(925): Show |
1 | a0002c0007t0003g0304 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.300-9261_300-9260i others(934): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(1967): Show |
1 | a0004c0006t0001g0291 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.300-9261_300-9260i others(1976): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(828): Show |
1 | a0047c0082t0003g0072 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.300-9261_300-9260i others(837): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(241): Show |
1 | a0002c0109t0001g0080 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.300-9261_300-9260i others(250): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | CATAGGGC others(43): Show |
1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-9261_300-9260i others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185711
|
C | T | 8 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0010t0001g0319others(5): Show | 8 | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-9261C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185711 | ||||||
| chr16:1185712
|
G | A | 16 | a0001c0001t0001g0177a0001c0001t0001g0193a0001c0001t0005g0249others(13): Show | 16 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.300-9260G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185712 | ||||||
| chr16:1185714
|
AG | A | 11 | a0001c0001t0001g0177a0001c0001t0001g0193a0001c0001t0005g0249others(8): Show | 11 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(8): Show |
intron_variant | MODIFIER | c.300-9254delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185714 | |||||
| chr16:1185723
|
A | G | 9 | a0001c0001t0001g0177a0001c0001t0001g0193a0002c0002t0001g0244others(6): Show | 9 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-9249A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185723 | ||||||
| chr16:1185732
|
G | A | 2 | a0001c0001t0002g0156a0002c0007t0002g0237 | 2 | HG01081.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.300-9240G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185732 | ||||||
| chr16:1185733
|
T | C | 2 | a0001c0001t0002g0156a0002c0007t0002g0237 | 2 | HG01081.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.300-9239T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185733 | ||||||
| chr16:1185737
|
C | CGGGGCGG others(245): Show |
2 | a0002c0002t0001g0284a0054c0074t0001g0283 | 2 | HG01884.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.300-9234_300-9233i others(254): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185737 | |||||
| chr16:1185737
|
C | G | 2 | a0001c0001t0002g0156a0002c0007t0002g0237 | 2 | HG01081.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.300-9235C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185737 | ||||||
| chr16:1185737
|
C | T | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-9235C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185737 | ||||||
| chr16:1185738
|
G | GGGGCAGG others(42): Show |
1 | a0002c0008t0001g0144 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.300-9234_300-9233i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185738 | ||||||
| chr16:1185738
|
GT | G | 325 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(322): Show | 328 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(325): Show |
intron_variant | MODIFIER | c.300-9233delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185738 | ||||||
| chr16:1185739
|
T | A | 2 | a0007c0005t0003g0149a0007c0052t0007g0053 | 2 | HG03239.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.300-9233T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185739 | ||||||
| chr16:1185739
|
T | G | 5 | a0001c0001t0002g0156a0002c0002t0001g0284a0002c0007t0002g0237others(2): Show | 5 | HG01081.hp2 HG01123.hp1 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-9233T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185739 | ||||||
| chr16:1185744
|
A | G | 83 | a0001c0001t0001g0112a0001c0001t0001g0177a0001c0001t0001g0193others(80): Show | 83 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(80): Show |
intron_variant | MODIFIER | c.300-9228A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185744 | ||||||
| chr16:1185747
|
T | C | 2 | a0002c0002t0001g0018a0002c0007t0002g0237 | 2 | HG03041.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.300-9225T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185747 | ||||||
| chr16:1185750
|
G | A | 2 | a0001c0001t0001g0193a0003c0015t0017g0271 | 2 | HG01261.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.300-9222G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185750 | ||||||
| chr16:1185754
|
ACGGT | A | 91 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(88): Show | 93 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.300-9214_300-9211d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185754 | |||||
| chr16:1185756
|
G | GGCATGTG others(36): Show |
1 | a0002c0002t0001g0042 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(45): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTAGG others(337): Show |
1 | a0002c0025t0001g0223 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.300-9215_300-9214i others(346): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTAGG others(85): Show |
9 | a0002c0012t0002g0332a0002c0012t0002g0333a0004c0006t0001g0301others(6): Show | 9 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-9215_300-9214i others(94): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTAGG others(32): Show |
1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(41): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTGCA others(138): Show |
1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(147): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTGCG others(39): Show |
6 | a0002c0011t0001g0225a0002c0011t0005g0273a0002c0025t0001g0226others(3): Show | 6 | HG02965.hp1 HG02965.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-9215_300-9214i others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTGCG others(39): Show |
1 | a0001c0001t0001g0281 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTGCG others(345): Show |
1 | a0001c0040t0001g0228 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(354): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
G | GGCGTGCG others(965): Show |
1 | a0062c0072t0001g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.300-9215_300-9214i others(974): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185756
|
GGTCGGCG others(1): Show |
G | 10 | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0008t0019g0031others(7): Show | 10 | HG00558.hp1 HG00558.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-9214_300-9207d others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185756 | |||||
| chr16:1185758
|
T | A | 20 | a0001c0001t0001g0281a0001c0001t0005g0249a0001c0040t0001g0228others(17): Show | 20 | HG01106.hp1 HG01884.hp2 HG02155.hp1 others(17): Show |
intron_variant | MODIFIER | c.300-9214T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185758 | ||||||
| chr16:1185758
|
T | C | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9214T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185758 | ||||||
| chr16:1185758
|
T | TCGGCGTG others(92): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-9206_300-9205i others(101): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185758 | |||||
| chr16:1185759
|
C | A | 2 | a0002c0002t0001g0018a0002c0002t0001g0042 | 2 | HG02109.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.300-9213C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185759 | ||||||
| chr16:1185759
|
C | G | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9213C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185759 | ||||||
| chr16:1185760
|
G | A | 7 | a0003c0015t0011g0015a0003c0068t0004g0290a0008c0023t0003g0129others(4): Show | 7 | HG02723.hp1 HG02886.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9212G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185760 | ||||||
| chr16:1185760
|
G | T | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9212G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185760 | ||||||
| chr16:1185761
|
G | A | 2 | a0002c0002t0001g0018a0002c0002t0001g0042 | 2 | HG02109.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.300-9211G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185761 | ||||||
| chr16:1185763
|
G | A | 49 | a0001c0001t0001g0177a0001c0001t0001g0193a0001c0001t0001g0231others(46): Show | 49 | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(46): Show |
intron_variant | MODIFIER | c.300-9209G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185763 | ||||||
| chr16:1185764
|
T | TAGGGGCC others(331): Show |
1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9208_300-9207i others(340): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185764 | ||||||
| chr16:1185764
|
T | TGCATAGG others(88): Show |
1 | a0003c0015t0017g0271 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.300-9206_300-9205i others(97): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185764 | |||||
| chr16:1185764
|
T | TGCGTAGG others(39): Show |
1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.300-9181_300-9180i others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185764 | |||||
| chr16:1185766
|
C | CATAGGGC others(42): Show |
15 | a0001c0001t0001g0231a0001c0001t0001g0292a0001c0001t0001g0302others(12): Show | 15 | HG01069.hp2 HG01074.hp2 HG02027.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-9206_300-9205i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(42): Show |
1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.300-9206_300-9205i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(241): Show |
1 | a0002c0109t0001g0080 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.300-9206_300-9205i others(250): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(932): Show |
1 | a0002c0002t0001g0244 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.300-9206_300-9205i others(941): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(882): Show |
1 | a0001c0001t0001g0177 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.300-9206_300-9205i others(891): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(985): Show |
1 | a0038c0101t0008g0261 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.300-9206_300-9205i others(994): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(1246): Show |
1 | a0001c0001t0001g0193 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.300-9206_300-9205i others(1255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(506): Show |
1 | a0016c0134t0003g0308 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.300-9206_300-9205i others(515): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | CATAGGGC others(151): Show |
1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-9206_300-9205i others(160): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185766
|
C | T | 20 | a0001c0001t0001g0281a0001c0001t0005g0249a0002c0007t0002g0237others(17): Show | 20 | HG02155.hp1 HG02572.hp2 HG02647.hp1 others(17): Show |
intron_variant | MODIFIER | c.300-9206C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185766 | ||||||
| chr16:1185767
|
G | A | 86 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(83): Show | 88 | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.300-9205G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185767 | ||||||
| chr16:1185767
|
G | GTAGGGGC others(603): Show |
1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(612): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
1 | a0002c0002t0018g0069 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(1497): Show |
1 | a0001c0070t0001g0092 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.300-9186_300-9185i others(1506): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(603): Show |
1 | a0001c0001t0002g0065 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(612): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
2 | a0011c0020t0006g0061a0011c0020t0012g0335 | 2 | HG01243.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
1 | a0001c0001t0014g0293 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(608): Show |
1 | a0001c0001t0002g0094 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(617): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
2 | a0001c0031t0001g0217a0001c0031t0001g0218 | 2 | HG01109.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
37 | a0001c0001t0001g0208a0001c0001t0002g0084a0001c0001t0002g0090others(34): Show | 37 | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(34): Show |
intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(607): Show |
3 | a0001c0001t0001g0079a0039c0099t0006g0054a0041c0098t0004g0033 | 3 | NA19004.hp1 NA19007.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.300-9186_300-9185i others(616): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(608): Show |
1 | a0006c0004t0004g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.300-9186_300-9185i others(617): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185767
|
G | GTAGGGGC others(43): Show |
1 | a0009c0076t0006g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.300-9181_300-9180i others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185767 | |||||
| chr16:1185769
|
AG | A | 6 | a0002c0002t0026g0241a0002c0010t0001g0319a0002c0010t0001g0320others(3): Show | 6 | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9199delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185769 | |||||
| chr16:1185776
|
G | GGAGGCGG others(503): Show |
2 | a0001c0001t0022g0298a0001c0001t0034g0117 | 2 | HG00423.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.300-9186_300-9185i others(512): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185776 | |||||
| chr16:1185776
|
G | GGAGGCGT others(233): Show |
1 | a0001c0001t0002g0156 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.300-9190_300-9189i others(242): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185776 | |||||
| chr16:1185777
|
G | A | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.300-9195G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185777 | ||||||
| chr16:1185778
|
A | G | 6 | a0002c0002t0026g0241a0002c0010t0001g0319a0002c0010t0001g0320others(3): Show | 6 | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-9194A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185778 | ||||||
| chr16:1185787
|
G | A | 98 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(95): Show | 99 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.300-9185G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185787 | ||||||
| chr16:1185788
|
T | C | 100 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(97): Show | 101 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.300-9184T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185788 | ||||||
| chr16:1185791
|
A | G | 98 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(95): Show | 99 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.300-9181A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185791 | ||||||
| chr16:1185792
|
T | C | 94 | a0001c0001t0001g0113a0001c0001t0001g0177a0001c0001t0001g0193others(91): Show | 94 | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.300-9180T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185792 | ||||||
| chr16:1185792
|
T | G | 98 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(95): Show | 99 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.300-9180T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185792 | ||||||
| chr16:1185798
|
G | A | 14 | a0001c0001t0002g0127a0002c0002t0001g0018a0002c0002t0001g0042others(11): Show | 14 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.300-9174G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185798 | ||||||
| chr16:1185801
|
T | C | 2 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.300-9171T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185801 | ||||||
| chr16:1185804
|
G | A | 1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.300-9168G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185804 | ||||||
| chr16:1185808
|
ACGGT | A | 24 | a0001c0001t0002g0127a0001c0094t0016g0093a0002c0002t0001g0209others(21): Show | 24 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.300-9160_300-9157d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185808 | |||||
| chr16:1185810
|
G | GGCGTAGG others(35): Show |
1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.300-9161_300-9160i others(44): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185810 | |||||
| chr16:1185810
|
G | GGCGTAGG others(569): Show |
1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-9161_300-9160i others(578): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185810 | |||||
| chr16:1185810
|
GGTCGGCG others(1): Show |
G | 4 | a0002c0007t0002g0237a0002c0008t0019g0031a0002c0012t0001g0318others(1): Show | 4 | HG02630.hp1 HG02818.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9160_300-9153d others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185810 | |||||
| chr16:1185812
|
T | A | 2 | a0001c0001t0005g0249a0058c0069t0033g0049 | 2 | HG02155.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.300-9160T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185812 | ||||||
| chr16:1185812
|
T | TCGGCATG others(287): Show |
1 | a0001c0001t0001g0112 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.300-9156_300-9155i others(296): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185812 | |||||
| chr16:1185814
|
G | A | 9 | a0002c0002t0001g0018a0002c0002t0001g0042a0003c0015t0011g0015others(6): Show | 9 | HG02109.hp1 HG02723.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-9158G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185814 | ||||||
| chr16:1185817
|
G | A | 59 | a0001c0001t0001g0113a0001c0001t0001g0177a0001c0001t0001g0193others(56): Show | 59 | HG00639.hp1 HG00642.hp1 HG00738.hp2 others(56): Show |
intron_variant | MODIFIER | c.300-9155G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185817 | ||||||
| chr16:1185818
|
T | TGCATAGG others(275): Show |
3 | a0008c0023t0003g0129a0031c0113t0018g0214a0077c0048t0016g0032 | 3 | HG02723.hp1 HG02886.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.300-9152_300-9151i others(284): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185818 | |||||
| chr16:1185818
|
T | TGCATAGG others(282): Show |
1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.300-9152_300-9151i others(291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185818 | |||||
| chr16:1185820
|
C | CATAGGGC others(42): Show |
2 | a0002c0002t0026g0241a0067c0130t0004g0309 | 2 | HG02074.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.300-9152_300-9151i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(42): Show |
24 | a0001c0001t0001g0177a0001c0001t0001g0193a0001c0001t0001g0231others(21): Show | 24 | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.300-9152_300-9151i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(1343): Show |
1 | a0020c0021t0004g0235 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.300-9152_300-9151i others(1352): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(1246): Show |
2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.300-9152_300-9151i others(1255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(145): Show |
1 | a0001c0001t0001g0113 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.300-9152_300-9151i others(154): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(95): Show |
1 | a0002c0109t0001g0080 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.300-9152_300-9151i others(104): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | CATAGGGC others(43): Show |
1 | a0004c0006t0002g0234 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.300-9152_300-9151i others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185820
|
C | T | 12 | a0001c0094t0016g0093a0002c0002t0001g0209a0002c0008t0001g0316others(9): Show | 12 | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-9152C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185820 | ||||||
| chr16:1185821
|
G | A | 23 | a0001c0001t0001g0322a0001c0040t0001g0228a0002c0002t0001g0017others(20): Show | 23 | HG01261.hp2 HG01516.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.300-9151G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185821 | ||||||
| chr16:1185823
|
AG | A | 14 | a0001c0040t0001g0228a0002c0011t0001g0225a0002c0012t0002g0332others(11): Show | 14 | HG01516.hp1 HG02572.hp2 HG02647.hp1 others(11): Show |
intron_variant | MODIFIER | c.300-9145delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185823 | |||||
| chr16:1185832
|
A | G | 14 | a0001c0040t0001g0228a0002c0011t0001g0225a0002c0012t0002g0332others(11): Show | 14 | HG01516.hp1 HG02572.hp2 HG02647.hp1 others(11): Show |
intron_variant | MODIFIER | c.300-9140A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185832 | ||||||
| chr16:1185836
|
G | GGGGTACG others(234): Show |
2 | a0003c0022t0028g0026a0029c0065t0007g0202 | 2 | HG02109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.300-9133_300-9132i others(243): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185836
|
G | GGGGTGTG others(914): Show |
1 | a0002c0008t0001g0144 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.300-9133_300-9132i others(923): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185836
|
G | GGGGTGTG others(426): Show |
1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9133_300-9132i others(435): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185836
|
G | GGGGTGTG others(42): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-9133_300-9132i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185836
|
G | GGGGTGTG others(46): Show |
1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-9133_300-9132i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185836
|
G | GGGGTGTG others(402): Show |
1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-9133_300-9132i others(411): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185836 | |||||
| chr16:1185839
|
GC | G | 324 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(321): Show | 327 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
intron_variant | MODIFIER | c.300-9132delC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185839 | ||||||
| chr16:1185840
|
C | G | 8 | a0001c0001t0001g0296a0002c0002t0001g0017a0002c0002t0001g0018others(5): Show | 8 | HG01123.hp1 HG02040.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-9132C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185840 | ||||||
| chr16:1185842
|
G | A | 13 | a0001c0001t0005g0249a0002c0011t0001g0225a0002c0012t0002g0332others(10): Show | 13 | HG02155.hp1 HG02572.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.300-9130G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185842 | ||||||
| chr16:1185843
|
T | C | 13 | a0001c0001t0005g0249a0002c0011t0001g0225a0002c0012t0002g0332others(10): Show | 13 | HG02155.hp1 HG02572.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.300-9129T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185843 | ||||||
| chr16:1185846
|
A | G | 13 | a0001c0001t0005g0249a0002c0011t0001g0225a0002c0012t0002g0332others(10): Show | 13 | HG02155.hp1 HG02572.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.300-9126A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185846 | ||||||
| chr16:1185847
|
C | G | 13 | a0001c0001t0005g0249a0002c0011t0001g0225a0002c0012t0002g0332others(10): Show | 13 | HG02155.hp1 HG02572.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.300-9125C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185847 | ||||||
| chr16:1185847
|
C | T | 2 | a0003c0015t0017g0271a0008c0056t0038g0224 | 2 | HG01261.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.300-9125C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185847 | ||||||
| chr16:1185853
|
G | A | 8 | a0001c0001t0002g0156a0001c0001t0022g0298a0001c0001t0034g0117others(5): Show | 8 | HG00423.hp2 HG01081.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-9119G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185853 | ||||||
| chr16:1185856
|
T | C | 12 | a0002c0011t0001g0225a0002c0012t0002g0332a0002c0012t0002g0333others(9): Show | 12 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-9116T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185856 | ||||||
| chr16:1185864
|
C | T | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-9108C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185864 | ||||||
| chr16:1185865
|
G | GGCGT | 9 | a0001c0040t0001g0228a0002c0002t0001g0284a0002c0002t0002g0086others(6): Show | 9 | HG01516.hp1 HG01884.hp1 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-9106_300-9103d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGCGTAGG others(155): Show |
1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-9096_300-9095i others(164): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGCGTAGG others(869): Show |
2 | a0002c0013t0001g0176a0002c0013t0036g0206 | 2 | HG00140.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.300-9074_300-9073i others(878): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGCGTAGG others(1061): Show |
5 | a0001c0001t0001g0208a0002c0010t0005g0270a0006c0004t0004g0187others(2): Show | 6 | HG01169.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-8843_300-8842i others(1070): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGCGTAGG others(3061): Show |
2 | a0001c0001t0002g0095a0004c0006t0002g0096 | 2 | NA18747.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.300-8868_300-8867i others(3070): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(304): Show |
2 | a0002c0063t0001g0287a0003c0028t0004g0028 | 2 | HG02717.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(313): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(562): Show |
1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(571): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(561): Show |
1 | a0004c0006t0001g0199 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(1675): Show |
1 | a0001c0001t0002g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(1684): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(561): Show |
69 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(66): Show | 70 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.300-9106_300-9105i others(570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(1676): Show |
1 | a0007c0005t0003g0181 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(1685): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(1675): Show |
2 | a0022c0114t0006g0189a0056c0115t0003g0190 | 2 | HG00733.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(1684): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(411): Show |
1 | a0053c0053t0001g0004 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(420): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(1676): Show |
1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(1685): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(507): Show |
1 | a0001c0001t0001g0133 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(516): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(561): Show |
2 | a0001c0001t0001g0150a0001c0001t0001g0329 | 2 | NA19010.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(453): Show |
1 | a0075c0119t0001g0313 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(462): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCAGCG others(561): Show |
1 | a0001c0001t0001g0136 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.300-9106_300-9105i others(570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCA others(50): Show |
2 | a0001c0094t0016g0093a0002c0002t0001g0209 | 2 | HG02622.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(59): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCA others(1131): Show |
1 | a0043c0085t0003g0048 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(1140): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCA others(402): Show |
1 | a0001c0001t0001g0112 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(411): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCA others(103): Show |
4 | a0002c0008t0001g0316a0002c0008t0002g0233a0002c0011t0002g0201others(1): Show | 4 | HG00639.hp1 HG02622.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9106_300-9105i others(112): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCG others(1): Show |
3 | a0003c0015t0017g0271a0016c0026t0008g0279a0017c0064t0032g0276 | 3 | HG01261.hp2 HG01981.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCG others(3160): Show |
1 | a0002c0014t0008g0267 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(3169): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCG others(3164): Show |
2 | a0003c0015t0004g0060a0037c0081t0001g0088 | 2 | HG02132.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.300-9106_300-9105i others(3173): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCG others(3169): Show |
1 | a0035c0104t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(3178): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
G | GGTCGGCG others(561): Show |
1 | a0022c0117t0006g0037 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.300-9106_300-9105i others(570): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185865
|
GGCGTAGG others(32): Show |
G | 4 | a0001c0001t0002g0127a0002c0007t0010g0062a0068c0118t0010g0128others(1): Show | 4 | HG00558.hp1 HG00558.hp2 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9105_300-9067d others(41): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185865 | |||||
| chr16:1185867
|
C | CATGT | 12 | a0002c0011t0001g0225a0002c0012t0002g0332a0002c0012t0002g0333others(9): Show | 12 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-9105_300-9104i others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185867 | ||||||
| chr16:1185867
|
C | CATGTGTA others(4914): Show |
1 | a0001c0001t0005g0249 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.300-9105_300-9104i others(4923): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185867 | ||||||
| chr16:1185867
|
C | CATGTGTA others(246): Show |
1 | a0004c0019t0001g0148 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.300-9105_300-9104i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185867 | ||||||
| chr16:1185867
|
C | CGTAGGGG others(196): Show |
3 | a0002c0011t0005g0273a0002c0025t0001g0226a0003c0133t0004g0046 | 3 | HG02965.hp1 HG02965.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.300-9074_300-9073i others(205): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185867 | |||||
| chr16:1185867
|
C | CGTAGGGG others(196): Show |
24 | a0001c0001t0001g0113a0001c0001t0001g0177a0001c0001t0001g0193others(21): Show | 24 | HG00642.hp1 HG01069.hp2 HG01074.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-9074_300-9073i others(205): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185867 | |||||
| chr16:1185867
|
C | CGTAGGGG others(249): Show |
1 | a0002c0109t0001g0080 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.300-9074_300-9073i others(258): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185867 | |||||
| chr16:1185867
|
C | CGTAGGGG others(197): Show |
1 | a0002c0007t0003g0071 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.300-9074_300-9073i others(206): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185867 | |||||
| chr16:1185867
|
C | T | 9 | a0001c0001t0001g0112a0001c0001t0001g0118a0001c0094t0016g0093others(6): Show | 9 | HG00639.hp1 HG02129.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-9105C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185867 | ||||||
| chr16:1185868
|
G | A | 1 | a0002c0002t0001g0042 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.300-9104G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185868 | ||||||
| chr16:1185868
|
G | GTGCA | 5 | a0001c0001t0002g0156a0001c0001t0022g0298a0001c0001t0034g0117others(2): Show | 5 | HG00423.hp2 HG01081.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-9103_300-9102i others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185868 | |||||
| chr16:1185877
|
G | A | 1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-9095G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185877 | ||||||
| chr16:1185877
|
G | GGAGGCGG others(196): Show |
1 | a0046c0096t0001g0105 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.300-9074_300-9073i others(205): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185877 | |||||
| chr16:1185893
|
C | CGGGGCAG others(43): Show |
1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.300-9074_300-9073i others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185893 | |||||
| chr16:1185893
|
C | T | 8 | a0001c0001t0002g0156a0001c0001t0022g0298a0001c0001t0034g0117others(5): Show | 8 | HG00423.hp2 HG01081.hp2 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-9079C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185893 | ||||||
| chr16:1185894
|
G | A | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-9078G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185894 | ||||||
| chr16:1185899
|
G | A | 18 | a0001c0040t0001g0228a0002c0002t0001g0017a0002c0002t0026g0241others(15): Show | 18 | HG01069.hp1 HG01071.hp2 HG01123.hp1 others(15): Show |
intron_variant | MODIFIER | c.300-9073G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185899 | ||||||
| chr16:1185907
|
A | C | 4 | a0001c0001t0002g0127a0002c0007t0010g0062a0068c0118t0010g0128others(1): Show | 4 | HG00558.hp1 HG00558.hp2 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9065A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185907 | ||||||
| chr16:1185909
|
A | G | 4 | a0001c0001t0002g0127a0002c0007t0010g0062a0068c0118t0010g0128others(1): Show | 4 | HG00558.hp1 HG00558.hp2 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9063A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185909 | ||||||
| chr16:1185910
|
C | T | 4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9062C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185910 | ||||||
| chr16:1185911
|
G | GGCGT | 7 | a0001c0040t0001g0228a0002c0025t0001g0223a0002c0039t0003g0229others(4): Show | 7 | HG01516.hp1 HG01884.hp2 HG02074.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-9060_300-9057d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185911 | |||||
| chr16:1185911
|
G | GGCGTGCA others(149): Show |
5 | a0002c0010t0001g0019a0015c0017t0003g0107a0015c0017t0003g0108others(2): Show | 5 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-9057_300-9056i others(158): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185911 | |||||
| chr16:1185911
|
G | GGTCAGCG others(1): Show |
5 | a0002c0002t0001g0284a0002c0063t0001g0287a0003c0028t0004g0028others(2): Show | 5 | HG01884.hp1 HG02055.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-9060_300-9059i others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185911 | |||||
| chr16:1185911
|
G | GGTCGGCG others(1): Show |
14 | a0001c0001t0001g0296a0001c0001t0002g0156a0001c0001t0022g0298others(11): Show | 14 | HG00423.hp2 HG01081.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.300-9060_300-9059i others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185911 | |||||
| chr16:1185911
|
G | GGTCGGCG others(470): Show |
1 | a0002c0002t0002g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.300-9060_300-9059i others(479): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185911 | |||||
| chr16:1185911
|
G | GT | 4 | a0001c0001t0002g0127a0002c0007t0010g0062a0068c0118t0010g0128others(1): Show | 4 | HG00558.hp1 HG00558.hp2 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-9061_300-9060i others(3): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185911 | ||||||
| chr16:1185913
|
C | CGTGCGTA others(47): Show |
2 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.300-9057_300-9056i others(56): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185913 | |||||
| chr16:1185913
|
C | CGTGCGTA others(150): Show |
1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.300-9057_300-9056i others(159): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185913 | |||||
| chr16:1185914
|
G | A | 1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-9058G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185914 | ||||||
| chr16:1185939
|
C | T | 22 | a0001c0001t0002g0127a0002c0002t0001g0017a0002c0002t0001g0018others(19): Show | 22 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(19): Show |
intron_variant | MODIFIER | c.300-9033C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185939 | ||||||
| chr16:1185940
|
G | GGGGCGGG others(1060): Show |
1 | a0009c0076t0006g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1069): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185940 | |||||
| chr16:1185945
|
G | A | 1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-9027G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185945 | ||||||
| chr16:1185955
|
A | ACGGCGTA others(43): Show |
1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-9011_300-9010i others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185955 | |||||
| chr16:1185955
|
A | ACGGT | 25 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0284others(22): Show | 25 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-9014_300-9013i others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185955 | |||||
| chr16:1185955
|
A | ACGGTCGG others(51): Show |
1 | a0067c0130t0004g0309 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.300-9014_300-9013i others(60): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185955 | |||||
| chr16:1185955
|
A | ACGGTCGG others(105): Show |
1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.300-9014_300-9013i others(114): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185955 | |||||
| chr16:1185957
|
GGCGT | G | 20 | a0001c0001t0001g0195a0001c0001t0001g0314a0001c0001t0002g0156others(17): Show | 20 | HG00140.hp2 HG00423.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.300-9010_300-9007d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185957 | |||||
| chr16:1185961
|
T | TGCATAGG others(93): Show |
1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-9009_300-9008i others(102): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1108): Show |
1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-8925_300-8924i others(1117): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(2221): Show |
1 | a0001c0001t0001g0236 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.300-8893_300-8892i others(2230): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(339): Show |
1 | a0001c0001t0002g0091 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(348): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(957): Show |
1 | a0001c0001t0015g0134 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.300-8843_300-8842i others(966): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1011): Show |
1 | a0072c0123t0006g0059 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1020): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1007): Show |
1 | a0001c0001t0002g0137 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1016): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1011): Show |
49 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0198others(46): Show | 50 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(47): Show |
intron_variant | MODIFIER | c.300-8843_300-8842i others(1020): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1066): Show |
1 | a0001c0001t0024g0106 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1075): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1065): Show |
2 | a0001c0001t0015g0116a0001c0097t0001g0077 | 2 | NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.300-8843_300-8842i others(1074): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1011): Show |
8 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(5): Show | 8 | HG00597.hp1 NA18943.hp2 NA18944.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-8882_300-8881i others(1020): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1012): Show |
1 | a0001c0001t0002g0066 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.300-8882_300-8881i others(1021): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185961
|
T | TGCGTAGG others(1065): Show |
2 | a0009c0073t0012g0074a0044c0090t0001g0240 | 2 | HG02735.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.300-8911_300-8910i others(1074): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185961 | |||||
| chr16:1185964
|
G | A | 6 | a0002c0002t0001g0018a0002c0002t0001g0042a0002c0135t0043g0282others(3): Show | 6 | HG02109.hp1 HG02486.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-9008G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185964 | ||||||
| chr16:1185978
|
C | CGGGGTGT others(1063): Show |
1 | a0006c0004t0004g0022 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1072): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1185978 | |||||
| chr16:1185989
|
C | T | 2 | a0003c0022t0020g0025a0003c0068t0004g0290 | 2 | HG03516.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.300-8983C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185989 | ||||||
| chr16:1185995
|
A | G | 36 | a0001c0001t0001g0195a0001c0001t0001g0314a0001c0001t0001g0322others(33): Show | 36 | HG00140.hp2 HG01109.hp1 HG01175.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-8977A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1185995 | ||||||
| chr16:1186005
|
A | ACGGCGTG others(911): Show |
1 | a0001c0001t0002g0097 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.300-8843_300-8842i others(920): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186005 | |||||
| chr16:1186005
|
A | ACGGT | 6 | a0002c0025t0001g0223a0002c0055t0001g0215a0003c0022t0020g0025others(3): Show | 6 | HG01884.hp2 HG01981.hp2 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-8964_300-8963i others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186005 | |||||
| chr16:1186005
|
A | ACGGTCGG others(97): Show |
1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.300-8964_300-8963i others(106): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186005 | |||||
| chr16:1186005
|
A | ACGGTCGG others(305): Show |
1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-8964_300-8963i others(314): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186005 | |||||
| chr16:1186007
|
G | GGTCAGCG others(2016): Show |
1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-8964_300-8963i others(2025): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186007 | |||||
| chr16:1186007
|
GGCGT | G | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-8960_300-8957d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186007 | |||||
| chr16:1186011
|
T | TAGGGGCC others(281): Show |
2 | a0002c0002t0001g0017a0058c0069t0033g0049 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.300-8961_300-8960i others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186011 | ||||||
| chr16:1186011
|
T | TAGGGGCC others(139): Show |
1 | a0002c0002t0001g0042 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.300-8961_300-8960i others(148): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186011 | ||||||
| chr16:1186014
|
G | A | 4 | a0002c0135t0043g0282a0003c0022t0028g0026a0003c0068t0004g0290others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-8958G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186014 | ||||||
| chr16:1186023
|
G | A | 1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.300-8949G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186023 | ||||||
| chr16:1186045
|
G | A | 11 | a0001c0001t0001g0195a0001c0001t0001g0314a0002c0002t0001g0284others(8): Show | 11 | HG00140.hp2 HG01109.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.300-8927G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186045 | ||||||
| chr16:1186056
|
C | T | 1 | a0003c0022t0020g0025 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.300-8916C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186056 | ||||||
| chr16:1186057
|
G | GGCGT | 10 | a0001c0001t0001g0195a0001c0001t0001g0314a0002c0002t0001g0017others(7): Show | 10 | HG00140.hp2 HG01109.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-8914_300-8911d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGCGTAGG others(47): Show |
1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.300-8882_300-8881i others(56): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGTCAGCG others(525): Show |
1 | a0002c0002t0002g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.300-8914_300-8913i others(534): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGTCAGCG others(475): Show |
4 | a0002c0002t0001g0284a0002c0063t0001g0287a0003c0028t0004g0028others(1): Show | 4 | HG01884.hp1 HG02055.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-8914_300-8913i others(484): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGTCGGCG others(1): Show |
21 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0018others(18): Show | 21 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(18): Show |
intron_variant | MODIFIER | c.300-8914_300-8913i others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGTCGGCG others(1637): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-8914_300-8913i others(1646): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186057
|
G | GGTCGGCG others(109): Show |
1 | a0002c0025t0001g0223 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.300-8914_300-8913i others(118): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186057 | |||||
| chr16:1186069
|
G | A | 1 | a0003c0022t0020g0025 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.300-8903G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186069 | ||||||
| chr16:1186074
|
C | CGGGGTGT others(1063): Show |
1 | a0036c0103t0001g0139 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1072): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186074 | |||||
| chr16:1186076
|
G | A | 1 | a0004c0019t0001g0148 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.300-8896G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186076 | ||||||
| chr16:1186085
|
C | T | 5 | a0003c0022t0028g0026a0008c0023t0003g0129a0029c0065t0007g0202others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-8887C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186085 | ||||||
| chr16:1186091
|
A | AGGTGAGT others(869): Show |
1 | a0012c0036t0001g0035 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.300-8843_300-8842i others(878): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186091 | |||||
| chr16:1186091
|
A | AGGTGAGT others(43): Show |
2 | a0002c0011t0002g0201a0002c0011t0002g0203 | 2 | HG02809.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.300-8875_300-8826d others(52): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186091 | |||||
| chr16:1186091
|
A | G | 44 | a0001c0001t0001g0195a0001c0001t0001g0314a0001c0001t0001g0322others(41): Show | 44 | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.300-8881A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186091 | ||||||
| chr16:1186101
|
A | ACGGCGTA others(305): Show |
1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.300-8865_300-8864i others(314): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTA others(597): Show |
4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-8865_300-8864i others(606): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTA others(2429): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-8865_300-8864i others(2438): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTA others(151): Show |
1 | a0002c0012t0001g0318 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.300-8865_300-8864i others(160): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTA others(205): Show |
1 | a0002c0012t0002g0050 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.300-8865_300-8864i others(214): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(593): Show |
2 | a0003c0022t0028g0026a0029c0065t0007g0202 | 2 | HG02109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.300-8863_300-8862i others(602): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(97): Show |
1 | a0001c0001t0002g0094 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(106): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(459): Show |
1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.300-8832_300-8831i others(468): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(101): Show |
47 | a0001c0001t0001g0177a0001c0001t0001g0193a0001c0001t0001g0231others(44): Show | 47 | HG00639.hp1 HG00642.hp1 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.300-8826_300-8825i others(110): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(317): Show |
2 | a0002c0025t0001g0226a0061c0080t0001g0227 | 2 | HG06807.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.300-8826_300-8825i others(326): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGCGTG others(101): Show |
1 | a0040c0100t0007g0111 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.300-8857_300-8856i others(110): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGT | 17 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(14): Show | 17 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.300-8868_300-8867i others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGTCGG others(213): Show |
1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.300-8868_300-8867i others(222): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGTCGG others(213): Show |
2 | a0008c0023t0003g0129a0077c0048t0016g0032 | 2 | HG02723.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.300-8868_300-8867i others(222): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGTCGG others(51): Show |
1 | a0003c0022t0020g0025 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.300-8868_300-8867i others(60): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186101
|
A | ACGGTGTG others(101): Show |
1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-8868_300-8867i others(110): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186101 | |||||
| chr16:1186103
|
G | A | 4 | a0001c0001t0001g0182a0005c0003t0001g0179a0005c0003t0009g0180others(1): Show | 4 | HG00642.hp2 HG01256.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-8869G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186103 | ||||||
| chr16:1186103
|
G | GGCGTGCG others(1061): Show |
3 | a0001c0001t0009g0216a0007c0005t0003g0166a0007c0005t0008g0272 | 3 | HG01123.hp2 HG01934.hp2 HG01943.hp1 |
intron_variant | MODIFIER | c.300-8843_300-8842i others(1070): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186103 | |||||
| chr16:1186109
|
C | CGTAGGGG others(5396): Show |
1 | a0020c0021t0004g0147 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(5405): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186109 | |||||
| chr16:1186113
|
G | GGGGCCGG others(1065): Show |
1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.300-8843_300-8842i others(1074): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186113 | |||||
| chr16:1186141
|
G | A | 12 | a0001c0001t0001g0322a0002c0008t0019g0031a0002c0058t0023g0027others(9): Show | 12 | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-8831G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186141 | ||||||
| chr16:1186141
|
G | GGGTGAGT others(1713): Show |
1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-8826_300-8825i others(1722): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186141 | |||||
| chr16:1186147
|
C | G | 331 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(328): Show | 334 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
intron_variant | MODIFIER | c.300-8825C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186147 | ||||||
| chr16:1186153
|
G | GGTCGGCG others(101): Show |
2 | a0001c0001t0001g0112a0001c0001t0001g0113 | 2 | HG02129.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.300-8785_300-8784i others(110): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186153 | |||||
| chr16:1186159
|
C | T | 1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.300-8813C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186159 | ||||||
| chr16:1186163
|
C | G | 1 | a0002c0002t0001g0042 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.300-8809C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186163 | ||||||
| chr16:1186182
|
G | A | 1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.300-8790G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186182 | ||||||
| chr16:1186190
|
A | G | 92 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0177others(89): Show | 92 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.300-8782A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186190 | ||||||
| chr16:1186271
|
C | G | 1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-8701C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186271 | ||||||
| chr16:1186283
|
G | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-8689G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186283 | ||||||
| chr16:1186357
|
G | A | 2 | a0002c0002t0001g0007a0002c0002t0001g0008 | 2 | HG02145.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.300-8615G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186357 | ||||||
| chr16:1186446
|
C | A | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-8526C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186446 | ||||||
| chr16:1186448
|
T | TG | 6 | a0001c0001t0001g0136a0002c0011t0001g0289a0007c0005t0008g0257others(3): Show | 6 | HG00738.hp1 HG00738.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-8520dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1186448 | |||||
| chr16:1186514
|
T | C | 34 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0284others(31): Show | 34 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(31): Show |
intron_variant | MODIFIER | c.300-8458T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186514 | ||||||
| chr16:1186565
|
T | G | 9 | a0002c0002t0001g0157a0008c0009t0007g0163a0008c0009t0007g0171others(6): Show | 9 | HG01346.hp2 HG02056.hp1 HG02129.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-8407T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186565 | ||||||
| chr16:1186620
|
G | A | 1 | a0001c0086t0001g0023 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.300-8352G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186620 | ||||||
| chr16:1186675
|
A | G | 1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-8297A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186675 | ||||||
| chr16:1186707
|
C | T | 2 | a0002c0039t0003g0229a0065c0042t0003g0230 | 2 | HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.300-8265C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186707 | ||||||
| chr16:1186711
|
T | G | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-8261T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186711 | ||||||
| chr16:1186745
|
G | A | 1 | a0002c0008t0019g0221 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.300-8227G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186745 | ||||||
| chr16:1186748
|
G | A | 15 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-8224G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186748 | ||||||
| chr16:1186755
|
C | T | 1 | a0001c0001t0001g0136 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.300-8217C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186755 | ||||||
| chr16:1186758
|
C | T | 30 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0284others(27): Show | 30 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(27): Show |
intron_variant | MODIFIER | c.300-8214C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186758 | ||||||
| chr16:1186792
|
T | C | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-8180T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186792 | ||||||
| chr16:1186794
|
T | G | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-8178T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186794 | ||||||
| chr16:1186795
|
A | T | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-8177A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186795 | ||||||
| chr16:1186796
|
T | A | 9 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-8176T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186796 | ||||||
| chr16:1186838
|
A | G | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-8134A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186838 | ||||||
| chr16:1186863
|
C | T | 34 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0284others(31): Show | 34 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(31): Show |
intron_variant | MODIFIER | c.300-8109C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186863 | ||||||
| chr16:1186928
|
G | A | 3 | a0001c0094t0016g0093a0002c0002t0001g0209a0046c0096t0001g0105 | 3 | HG02622.hp1 HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.300-8044G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186928 | ||||||
| chr16:1186929
|
A | G | 1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.300-8043A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186929 | ||||||
| chr16:1186994
|
G | C | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-7978G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186994 | ||||||
| chr16:1186995
|
G | C | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-7977G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186995 | ||||||
| chr16:1186999
|
C | T | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-7973C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1186999 | ||||||
| chr16:1187000
|
T | C | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-7972T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187000 | ||||||
| chr16:1187037
|
C | T | 3 | a0001c0001t0002g0095a0004c0006t0002g0096a0035c0104t0002g0064 | 3 | HG02135.hp1 NA18747.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.300-7935C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187037 | ||||||
| chr16:1187074
|
C | T | 4 | a0002c0002t0001g0042a0003c0068t0004g0290a0008c0056t0038g0224others(1): Show | 4 | HG02109.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-7898C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187074 | ||||||
| chr16:1187128
|
G | A | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-7844G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187128 | ||||||
| chr16:1187128
|
G | T | 2 | a0002c0002t0001g0017a0058c0069t0033g0049 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.300-7844G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187128 | ||||||
| chr16:1187180
|
C | T | 15 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-7792C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187180 | ||||||
| chr16:1187181
|
G | A | 51 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0177others(48): Show | 51 | HG00639.hp1 HG00642.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.300-7791G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187181 | ||||||
| chr16:1187201
|
G | A | 2 | a0002c0002t0001g0017a0058c0069t0033g0049 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.300-7771G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187201 | ||||||
| chr16:1187225
|
C | T | 3 | a0001c0001t0035g0078a0002c0039t0003g0229a0065c0042t0003g0230 | 3 | HG00408.hp1 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.300-7747C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187225 | ||||||
| chr16:1187247
|
G | A | 4 | a0002c0010t0001g0019a0002c0055t0001g0215a0002c0135t0043g0282others(1): Show | 4 | HG01981.hp2 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-7725G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187247 | ||||||
| chr16:1187351
|
C | T | 1 | a0002c0002t0002g0243 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.300-7621C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187351 | ||||||
| chr16:1187356
|
T | C | 34 | a0001c0001t0001g0322a0001c0001t0002g0127a0002c0002t0001g0284others(31): Show | 34 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(31): Show |
intron_variant | MODIFIER | c.300-7616T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187356 | ||||||
| chr16:1187402
|
C | T | 7 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(4): Show | 7 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-7570C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187402 | ||||||
| chr16:1187446
|
C | T | 1 | a0001c0001t0015g0134 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.300-7526C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187446 | ||||||
| chr16:1187466
|
C | T | 2 | a0008c0023t0003g0045a0026c0128t0040g0014 | 2 | HG02451.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.300-7506C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187466 | ||||||
| chr16:1187475
|
C | G | 1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.300-7497C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187475 | ||||||
| chr16:1187532
|
C | T | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-7440C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187532 | ||||||
| chr16:1187574
|
G | A | 15 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-7398G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187574 | ||||||
| chr16:1187581
|
C | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-7391C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187581 | ||||||
| chr16:1187582
|
G | T | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-7390G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187582 | ||||||
| chr16:1187595
|
G | A | 1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.300-7377G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187595 | ||||||
| chr16:1187603
|
C | T | 15 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-7369C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187603 | ||||||
| chr16:1187616
|
C | G | 15 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(12): Show | 15 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-7356C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187616 | ||||||
| chr16:1187698
|
G | A | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-7274G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187698 | ||||||
| chr16:1187766
|
T | C | 10 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(7): Show | 10 | HG02109.hp2 HG02280.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.300-7206T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187766 | ||||||
| chr16:1187787
|
C | T | 3 | a0001c0001t0002g0095a0004c0006t0002g0096a0035c0104t0002g0064 | 3 | HG02135.hp1 NA18747.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.300-7185C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187787 | ||||||
| chr16:1187810
|
C | G | 51 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0051others(48): Show | 52 | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.300-7162C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187810 | ||||||
| chr16:1187863
|
C | T | 3 | a0008c0009t0007g0163a0008c0009t0007g0171a0008c0009t0008g0253 | 3 | HG01346.hp2 HG03017.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.300-7109C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187863 | ||||||
| chr16:1187894
|
T | C | 1 | a0068c0118t0010g0128 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.300-7078T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187894 | ||||||
| chr16:1187972
|
C | T | 2 | a0002c0002t0001g0110a0002c0002t0002g0085 | 2 | HG02922.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.300-7000C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1187972 | ||||||
| chr16:1188026
|
A | G | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-6946A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188026 | ||||||
| chr16:1188029
|
C | T | 2 | a0001c0001t0002g0095a0004c0006t0002g0096 | 2 | NA18747.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.300-6943C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188029 | ||||||
| chr16:1188147
|
G | A | 1 | a0001c0001t0001g0136 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.300-6825G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188147 | ||||||
| chr16:1188175
|
G | A | 4 | a0001c0001t0001g0322a0002c0058t0023g0027a0003c0028t0004g0325others(1): Show | 4 | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-6797G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188175 | ||||||
| chr16:1188185
|
T | C | 2 | a0002c0002t0001g0018a0002c0055t0001g0215 | 2 | HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.300-6787T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188185 | ||||||
| chr16:1188199
|
G | A | 1 | a0002c0010t0002g0205 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.300-6773G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188199 | ||||||
| chr16:1188208
|
C | T | 10 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(7): Show | 10 | HG02109.hp2 HG02280.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.300-6764C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188208 | ||||||
| chr16:1188250
|
A | C | 19 | a0001c0001t0002g0127a0002c0002t0001g0017a0002c0002t0001g0284others(16): Show | 19 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.300-6722A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188250 | ||||||
| chr16:1188251
|
G | A | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-6721G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188251 | ||||||
| chr16:1188407
|
A | G | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-6565A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188407 | ||||||
| chr16:1188448
|
CCT | C | 10 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(7): Show | 10 | HG02109.hp2 HG02280.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.300-6523_300-6522d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188448 | ||||||
| chr16:1188498
|
C | T | 1 | a0011c0020t0041g0297 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.300-6474C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188498 | ||||||
| chr16:1188538
|
CA | C | 6 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(3): Show | 6 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-6433delA | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188538 | ||||||
| chr16:1188619
|
C | T | 13 | a0001c0001t0001g0322a0002c0008t0019g0031a0002c0012t0001g0318others(10): Show | 13 | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.300-6353C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188619 | ||||||
| chr16:1188662
|
G | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-6310G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188662 | ||||||
| chr16:1188673
|
G | A | 8 | a0001c0001t0002g0127a0002c0007t0002g0237a0002c0007t0010g0062others(5): Show | 8 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-6299G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188673 | ||||||
| chr16:1188710
|
A | G | 1 | a0002c0014t0007g0123 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.300-6262A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188710 | ||||||
| chr16:1188718
|
A | G | 9 | a0001c0001t0001g0322a0002c0008t0019g0031a0002c0012t0001g0318others(6): Show | 9 | HG02055.hp1 HG02572.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-6254A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188718 | ||||||
| chr16:1188793
|
C | T | 7 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(4): Show | 7 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-6179C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188793 | ||||||
| chr16:1188859
|
A | C | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-6113A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188859 | ||||||
| chr16:1188860
|
G | A | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-6112G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188860 | ||||||
| chr16:1188875
|
T | G | 5 | a0005c0003t0001g0192a0005c0003t0002g0173a0007c0005t0008g0258others(2): Show | 5 | HG01496.hp2 HG02683.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-6097T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188875 | ||||||
| chr16:1188939
|
A | G | 32 | a0001c0001t0002g0065a0001c0001t0002g0127a0001c0070t0001g0092others(29): Show | 32 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.300-6033A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1188939 | ||||||
| chr16:1189026
|
G | C | 6 | a0001c0001t0001g0322a0002c0135t0043g0282a0003c0028t0004g0325others(3): Show | 6 | HG01981.hp2 HG02055.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-5946G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189026 | ||||||
| chr16:1189065
|
A | AGGGGAGC others(27): Show |
6 | a0002c0002t0001g0042a0002c0058t0023g0027a0003c0068t0004g0290others(3): Show | 6 | HG02109.hp1 HG03209.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-5903_300-5870d others(36): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189065 | |||||
| chr16:1189082
|
C | T | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-5890C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189082 | ||||||
| chr16:1189144
|
A | G | 11 | a0002c0002t0001g0017a0002c0002t0001g0042a0002c0058t0023g0027others(8): Show | 11 | HG01981.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.300-5828A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189144 | ||||||
| chr16:1189313
|
C | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-5659C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189313 | ||||||
| chr16:1189355
|
G | A | 1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.300-5617G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189355 | ||||||
| chr16:1189397
|
C | CT | 75 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0113others(72): Show | 76 | HG00438.hp1 HG00544.hp1 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.300-5538dupT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
C | CTT | 36 | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0051others(33): Show | 36 | HG00099.hp2 HG01081.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.300-5539_300-5538d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
C | CTTT | 10 | a0001c0040t0001g0228a0001c0094t0016g0093a0002c0007t0003g0304others(7): Show | 10 | HG00323.hp2 HG01106.hp1 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.300-5540_300-5538d others(5): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
C | CTTTTTTT others(4): Show |
1 | a0001c0001t0002g0196 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.300-5548_300-5538d others(13): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CT | C | 44 | a0001c0001t0001g0182a0001c0001t0001g0207a0001c0001t0001g0211others(41): Show | 44 | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(41): Show |
intron_variant | MODIFIER | c.300-5538delT | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTT | C | 6 | a0001c0001t0005g0269a0002c0013t0001g0170a0004c0006t0001g0291others(3): Show | 6 | HG00323.hp1 HG02559.hp1 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-5539_300-5538d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTT | C | 14 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0296others(11): Show | 15 | HG01346.hp1 HG01934.hp1 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-5541_300-5538d others(6): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0001g0200 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.300-5547_300-5538d others(12): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0005g0275 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.300-5550_300-5538d others(15): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(9): Show |
C | 2 | a0001c0001t0002g0102a0002c0055t0001g0215 | 2 | HG03098.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.300-5553_300-5538d others(18): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(10): Show |
C | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.300-5554_300-5538d others(19): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(11): Show |
C | 20 | a0001c0001t0002g0127a0002c0002t0001g0284a0002c0002t0002g0086others(17): Show | 20 | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.300-5555_300-5538d others(20): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(12): Show |
C | 2 | a0008c0023t0003g0045a0026c0128t0040g0014 | 2 | HG02451.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.300-5556_300-5538d others(21): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(13): Show |
C | 15 | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0042others(12): Show | 15 | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.300-5557_300-5538d others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189397
|
CTTTTTTT others(14): Show |
C | 3 | a0002c0010t0001g0319a0002c0010t0001g0320a0016c0026t0008g0279 | 3 | HG01069.hp1 HG01071.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.300-5558_300-5538d others(23): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1189397 | |||||
| chr16:1189557
|
G | A | 333 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(330): Show | 336 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(333): Show |
intron_variant | MODIFIER | c.300-5415G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189557 | ||||||
| chr16:1189560
|
C | A | 1 | a0001c0001t0010g0155 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.300-5412C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189560 | ||||||
| chr16:1189746
|
G | C | 2 | a0002c0055t0001g0215a0017c0064t0032g0276 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.300-5226G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189746 | ||||||
| chr16:1189810
|
G | A | 1 | a0021c0034t0003g0002 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.300-5162G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189810 | ||||||
| chr16:1189915
|
A | T | 7 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(4): Show | 7 | HG02109.hp1 HG02976.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-5057A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1189915 | ||||||
| chr16:1190196
|
G | A | 1 | a0001c0001t0001g0136 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.300-4776G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190196 | ||||||
| chr16:1190228
|
G | T | 1 | a0001c0001t0009g0216 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.300-4744G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190228 | ||||||
| chr16:1190245
|
G | A | 2 | a0023c0029t0001g0183a0023c0029t0001g0194 | 2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.300-4727G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190245 | ||||||
| chr16:1190358
|
G | A | 80 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(77): Show | 80 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(77): Show |
intron_variant | MODIFIER | c.300-4614G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190358 | ||||||
| chr16:1190371
|
G | A | 3 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218 | 3 | HG01109.hp2 HG02257.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.300-4601G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190371 | ||||||
| chr16:1190373
|
C | G | 2 | a0011c0020t0041g0297a0071c0124t0003g0103 | 2 | HG00323.hp2 HG01081.hp1 |
intron_variant | MODIFIER | c.300-4599C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190373 | ||||||
| chr16:1190514
|
AG | A | 6 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(3): Show | 6 | HG02109.hp1 HG02976.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-4452delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190514 | |||||
| chr16:1190547
|
C | T | 8 | a0002c0007t0002g0237a0002c0007t0003g0070a0002c0007t0003g0071others(5): Show | 8 | HG00558.hp2 HG01261.hp2 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-4425C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190547 | ||||||
| chr16:1190601
|
C | T | 12 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(9): Show | 12 | HG01109.hp2 HG01981.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.300-4371C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190601 | ||||||
| chr16:1190668
|
T | C | 12 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(9): Show | 12 | HG01109.hp2 HG01981.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.300-4304T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190668 | ||||||
| chr16:1190707
|
G | C | 7 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(4): Show | 7 | HG02109.hp1 HG02976.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-4265G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190707 | ||||||
| chr16:1190778
|
GA | G | 80 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(77): Show | 80 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(77): Show |
intron_variant | MODIFIER | c.300-4193delA | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190778 | ||||||
| chr16:1190833
|
T | TCAGGCTG others(933): Show |
2 | a0002c0039t0003g0229a0065c0042t0003g0230 | 2 | HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.300-3830_300-3829i others(942): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190833 | |||||
| chr16:1190847
|
C | CTGTGTGG others(46): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-4099_300-4098i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190847 | |||||
| chr16:1190874
|
C | CTCTCTGA others(568): Show |
7 | a0002c0008t0005g0252a0002c0035t0001g0172a0002c0035t0001g0288others(4): Show | 8 | HG00735.hp1 HG01167.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-4031_300-4030i others(577): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190874 | |||||
| chr16:1190874
|
C | CTCTCTTA others(44): Show |
1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-4093_300-4092i others(53): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190874 | |||||
| chr16:1190878
|
C | CTTACTCA others(617): Show |
6 | a0002c0012t0002g0332a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-4093_300-4092i others(626): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190878 | |||||
| chr16:1190900
|
CTGTGTGG others(46): Show |
C | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.300-4041_300-3989d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190900 | |||||
| chr16:1190907
|
G | A | 8 | a0001c0001t0001g0322a0002c0135t0043g0282a0003c0022t0020g0025others(5): Show | 8 | HG01981.hp2 HG02055.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-4065G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190907 | ||||||
| chr16:1190926
|
TTTCGCTG others(307): Show |
T | 1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-4045_300-3732d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190926 | ||||||
| chr16:1190926
|
TTTCGCTG others(411): Show |
T | 2 | a0003c0022t0020g0025a0003c0022t0028g0026 | 2 | HG02109.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-4045_300-3628d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190926 | ||||||
| chr16:1190927
|
T | C | 4 | a0002c0002t0001g0017a0002c0135t0043g0282a0003c0015t0004g0060others(1): Show | 4 | HG01981.hp2 HG02132.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-4045T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190927 | ||||||
| chr16:1190930
|
G | T | 4 | a0002c0002t0001g0017a0002c0135t0043g0282a0003c0015t0004g0060others(1): Show | 4 | HG01981.hp2 HG02132.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-4042G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190930 | ||||||
| chr16:1190931
|
C | G | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-4041C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190931 | ||||||
| chr16:1190931
|
CTGACCCA others(46): Show |
C | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-4030_300-3978d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190931 | |||||
| chr16:1190933
|
G | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-4039G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190933 | ||||||
| chr16:1190936
|
C | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-4036C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190936 | ||||||
| chr16:1190942
|
T | G | 4 | a0002c0135t0043g0282a0003c0015t0004g0060a0016c0026t0008g0279others(1): Show | 4 | HG01981.hp2 HG02132.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-4030T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190942 | ||||||
| chr16:1190942
|
T | TGCTGGCC others(46): Show |
6 | a0002c0002t0001g0284a0002c0002t0002g0086a0002c0063t0001g0287others(3): Show | 6 | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-3989_300-3988i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190942 | |||||
| chr16:1190942
|
TGCTGGCC others(46): Show |
T | 3 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218 | 3 | HG01109.hp2 HG02257.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.300-4025_300-3973d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190942 | |||||
| chr16:1190947
|
G | C | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-4025G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190947 | ||||||
| chr16:1190953
|
T | C | 7 | a0001c0001t0001g0322a0002c0135t0043g0282a0003c0015t0004g0060others(4): Show | 7 | HG01981.hp2 HG02055.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-4019T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190953 | ||||||
| chr16:1190953
|
T | TTGTGTGG others(413): Show |
1 | a0001c0001t0002g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.300-3641_300-3640i others(422): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190953 | |||||
| chr16:1190953
|
T | TTGTGTGG others(515): Show |
1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.300-3590_300-3589i others(524): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1190953 | |||||
| chr16:1190965
|
A | C | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-4007A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190965 | ||||||
| chr16:1190979
|
TTTCGGTG others(566): Show |
T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3992_300-3420d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190979 | ||||||
| chr16:1190980
|
T | C | 2 | a0003c0015t0004g0060a0058c0069t0033g0049 | 2 | HG02132.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.300-3992T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190980 | ||||||
| chr16:1190984
|
G | C | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-3988G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190984 | ||||||
| chr16:1190993
|
C | T | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-3979C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190993 | ||||||
| chr16:1190995
|
G | T | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-3977G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1190995 | ||||||
| chr16:1191000
|
C | G | 5 | a0002c0058t0023g0027a0002c0135t0043g0282a0003c0015t0004g0060others(2): Show | 5 | HG01981.hp2 HG02132.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3972C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191000 | ||||||
| chr16:1191000
|
CCCTGGCT others(203): Show |
C | 43 | a0001c0001t0001g0044a0001c0001t0001g0124a0001c0001t0001g0131others(40): Show | 43 | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.300-3882_300-3673d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191000 | |||||
| chr16:1191006
|
C | T | 2 | a0002c0135t0043g0282a0016c0026t0008g0279 | 2 | HG01981.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.300-3966C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191006 | ||||||
| chr16:1191013
|
G | A | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-3959G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191013 | ||||||
| chr16:1191027
|
C | T | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-3945C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191027 | ||||||
| chr16:1191033
|
C | T | 4 | a0002c0058t0023g0027a0002c0135t0043g0282a0003c0015t0004g0060others(1): Show | 4 | HG01981.hp2 HG02132.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3939C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191033 | ||||||
| chr16:1191033
|
CTCTGACC others(305): Show |
C | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-3935_300-3624d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191033 | |||||
| chr16:1191035
|
C | CGG | 4 | a0002c0058t0023g0027a0002c0135t0043g0282a0003c0015t0004g0060others(1): Show | 4 | HG01981.hp2 HG02132.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3937_300-3936i others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191035 | ||||||
| chr16:1191035
|
C | CTGACCCA others(515): Show |
9 | a0001c0001t0001g0051a0001c0001t0001g0112a0001c0001t0001g0113others(6): Show | 9 | HG02129.hp1 HG02155.hp1 NA18943.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-3830_300-3829i others(524): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191035 | |||||
| chr16:1191040
|
CCAGCAGG others(46): Show |
C | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-3829_300-3777d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191040 | |||||
| chr16:1191079
|
G | A | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3893G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191079 | ||||||
| chr16:1191084
|
C | T | 2 | a0002c0058t0023g0027a0003c0015t0004g0060 | 2 | HG02132.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.300-3888C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191084 | ||||||
| chr16:1191086
|
C | CGGTGACC others(44): Show |
1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.300-3886_300-3885i others(53): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191086 | ||||||
| chr16:1191086
|
C | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3886C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191086 | ||||||
| chr16:1191087
|
T | G | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3885T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191087 | ||||||
| chr16:1191088
|
C | G | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3884C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191088 | ||||||
| chr16:1191090
|
G | T | 5 | a0002c0002t0001g0141a0006c0004t0004g0003a0006c0004t0004g0285others(2): Show | 6 | HG01167.hp1 HG01169.hp2 HG03491.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-3882G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191090 | ||||||
| chr16:1191090
|
GACTCAGC others(203): Show |
G | 3 | a0001c0001t0002g0121a0001c0001t0002g0196a0002c0010t0005g0270 | 3 | HG00544.hp2 NA18747.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.300-3850_300-3641d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191090 | |||||
| chr16:1191093
|
T | C | 5 | a0001c0031t0001g0217a0002c0058t0023g0027a0002c0135t0043g0282others(2): Show | 5 | HG01109.hp2 HG01981.hp2 HG02132.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3879T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191093 | ||||||
| chr16:1191093
|
T | TCAGCAGG others(307): Show |
5 | a0002c0010t0001g0019a0015c0017t0003g0107a0015c0017t0003g0108others(2): Show | 5 | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-3830_300-3829i others(316): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191093 | |||||
| chr16:1191093
|
TCAGCAGG others(150): Show |
T | 3 | a0002c0055t0001g0215a0008c0056t0038g0224a0017c0064t0032g0276 | 3 | HG03098.hp2 HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.300-3829_300-3673d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191093 | |||||
| chr16:1191112
|
G | A | 1 | a0003c0015t0011g0015 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.300-3860G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191112 | ||||||
| chr16:1191122
|
A | C | 6 | a0002c0002t0001g0018a0002c0002t0001g0141a0006c0004t0004g0003others(3): Show | 7 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-3850A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191122 | ||||||
| chr16:1191131
|
C | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3841C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191131 | ||||||
| chr16:1191135
|
GTC | G | 7 | a0002c0002t0001g0018a0002c0002t0001g0141a0003c0015t0004g0060others(4): Show | 8 | HG01167.hp1 HG01169.hp2 HG02132.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-3831_300-3830d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191135 | |||||
| chr16:1191137
|
C | T | 4 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218others(1): Show | 4 | HG01109.hp2 HG02257.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3835C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191137 | ||||||
| chr16:1191140
|
T | G | 2 | a0001c0031t0001g0217a0002c0058t0023g0027 | 2 | HG01109.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.300-3832T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191140 | ||||||
| chr16:1191141
|
C | G | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.300-3831C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191141 | ||||||
| chr16:1191141
|
CTGACTCA others(723): Show |
C | 2 | a0001c0001t0001g0219a0001c0031t0001g0218 | 2 | HG02257.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.300-3826_300-3097d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191141 | |||||
| chr16:1191143
|
G | T | 85 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(82): Show | 85 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(82): Show |
intron_variant | MODIFIER | c.300-3829G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191143 | ||||||
| chr16:1191143
|
GACTCAGC others(46): Show |
G | 1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-3778_300-3726d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191143 | |||||
| chr16:1191146
|
T | C | 9 | a0001c0031t0001g0217a0002c0002t0001g0018a0002c0002t0001g0141others(6): Show | 10 | HG01109.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-3826T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191146 | ||||||
| chr16:1191146
|
TCAGCAGG others(97): Show |
T | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-3744_300-3641d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191146 | |||||
| chr16:1191150
|
C | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3822C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191150 | ||||||
| chr16:1191152
|
G | T | 1 | a0001c0031t0001g0217 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.300-3820G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191152 | ||||||
| chr16:1191157
|
G | C | 1 | a0001c0031t0001g0217 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.300-3815G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191157 | ||||||
| chr16:1191175
|
A | C | 82 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(79): Show | 82 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.300-3797A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191175 | ||||||
| chr16:1191188
|
GTC | G | 78 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(75): Show | 78 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.300-3778_300-3777d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191188 | |||||
| chr16:1191188
|
GTCTCTCT others(99): Show |
G | 1 | a0031c0113t0018g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.300-3778_300-3673d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191188 | |||||
| chr16:1191189
|
T | TTTCGGTG others(305): Show |
2 | a0002c0002t0001g0141a0009c0076t0006g0142 | 2 | HG03688.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.300-3783_300-3782i others(314): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191189 | ||||||
| chr16:1191189
|
TCTCTCTT others(513): Show |
T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-3782_300-3263d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191189 | ||||||
| chr16:1191190
|
C | CTCTGACC others(42): Show |
1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3779_300-3778i others(51): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191190 | |||||
| chr16:1191190
|
C | CTCTGACC others(201): Show |
3 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.300-3779_300-3778i others(210): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191190 | |||||
| chr16:1191190
|
C | CTCTGACC others(301): Show |
2 | a0002c0011t0002g0201a0002c0011t0002g0203 | 2 | HG02809.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.300-3779_300-3778i others(310): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191190 | |||||
| chr16:1191190
|
C | CTCTGACC others(356): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-3779_300-3778i others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191190 | |||||
| chr16:1191190
|
C | G | 2 | a0002c0002t0001g0141a0009c0076t0006g0142 | 2 | HG03688.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.300-3782C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191190 | ||||||
| chr16:1191190
|
C | T | 6 | a0002c0002t0001g0018a0002c0058t0023g0027a0002c0135t0043g0282others(3): Show | 7 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-3782C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191190 | ||||||
| chr16:1191193
|
T | G | 5 | a0002c0002t0001g0018a0002c0058t0023g0027a0006c0004t0004g0003others(2): Show | 6 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-3779T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191193 | ||||||
| chr16:1191194
|
C | CTGACCCA others(99): Show |
1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3777_300-3776i others(108): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191194 | |||||
| chr16:1191194
|
C | G | 5 | a0002c0002t0001g0018a0002c0058t0023g0027a0006c0004t0004g0003others(2): Show | 6 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.300-3778C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191194 | ||||||
| chr16:1191194
|
CTTACTCA others(670): Show |
C | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.300-3776_300-3100d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191194 | |||||
| chr16:1191196
|
T | G | 93 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(90): Show | 94 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(91): Show |
intron_variant | MODIFIER | c.300-3776T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191196 | ||||||
| chr16:1191199
|
T | C | 92 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(89): Show | 93 | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.300-3773T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191199 | ||||||
| chr16:1191203
|
C | T | 2 | a0002c0002t0001g0141a0009c0076t0006g0142 | 2 | HG03688.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.300-3769C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191203 | ||||||
| chr16:1191210
|
G | C | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.300-3762G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191210 | ||||||
| chr16:1191216
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-3756C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191216 | ||||||
| chr16:1191228
|
A | C | 13 | a0001c0001t0001g0051a0001c0001t0001g0112a0001c0001t0001g0113others(10): Show | 13 | HG02040.hp1 HG02129.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.300-3744A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191228 | ||||||
| chr16:1191238
|
G | A | 4 | a0002c0002t0001g0018a0006c0004t0004g0003a0006c0004t0004g0285others(1): Show | 5 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3734G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191238 | ||||||
| chr16:1191241
|
G | C | 1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-3731G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191241 | ||||||
| chr16:1191241
|
G | GTC | 5 | a0001c0031t0001g0217a0002c0011t0002g0201a0002c0011t0002g0203others(2): Show | 5 | HG01109.hp2 HG02572.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.300-3727_300-3726d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191241 | |||||
| chr16:1191241
|
G | GTCTCTCT others(150): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-3726_300-3725i others(159): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191241 | |||||
| chr16:1191243
|
C | T | 7 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(4): Show | 8 | HG01167.hp1 HG01169.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-3729C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191243 | ||||||
| chr16:1191244
|
T | TTG | 4 | a0002c0002t0001g0018a0006c0004t0004g0003a0006c0004t0004g0285others(1): Show | 5 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3728_300-3727i others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191244 | ||||||
| chr16:1191245
|
C | CGGTGACC others(48): Show |
3 | a0002c0002t0001g0017a0002c0002t0001g0042a0003c0068t0004g0290 | 3 | HG02109.hp1 HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.300-3727_300-3726i others(57): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191245 | ||||||
| chr16:1191245
|
C | G | 4 | a0002c0002t0001g0018a0006c0004t0004g0003a0006c0004t0004g0285others(1): Show | 5 | HG01167.hp1 HG01169.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3727C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191245 | ||||||
| chr16:1191250
|
C | CCAGCAGG others(46): Show |
1 | a0002c0063t0001g0287 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.300-3684_300-3683i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191250 | |||||
| chr16:1191250
|
C | CCAGCAGG others(46): Show |
3 | a0002c0008t0001g0316a0002c0008t0002g0233a0002c0109t0001g0080 | 3 | HG00639.hp1 HG01891.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.300-3673_300-3672i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191250 | |||||
| chr16:1191250
|
C | T | 4 | a0001c0031t0001g0217a0004c0019t0001g0148a0026c0128t0040g0014others(1): Show | 4 | HG01109.hp2 HG02451.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3722C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191250 | ||||||
| chr16:1191254
|
C | T | 1 | a0003c0015t0004g0060 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.300-3718C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191254 | ||||||
| chr16:1191288
|
C | T | 3 | a0002c0002t0001g0018a0002c0002t0001g0042a0003c0068t0004g0290 | 3 | HG02109.hp1 HG03041.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.300-3684C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191288 | ||||||
| chr16:1191292
|
GTC | G | 5 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(2): Show | 5 | HG02109.hp1 HG02132.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.300-3674_300-3673d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191292 | |||||
| chr16:1191294
|
C | T | 2 | a0001c0031t0001g0217a0029c0065t0007g0202 | 2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.300-3678C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191294 | ||||||
| chr16:1191297
|
T | G | 1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-3675T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191297 | ||||||
| chr16:1191298
|
CTTACTCA others(566): Show |
C | 1 | a0001c0031t0001g0217 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.300-3672_300-3100d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191298 | |||||
| chr16:1191300
|
T | G | 77 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(74): Show | 77 | HG00558.hp2 HG00642.hp1 HG01069.hp1 others(74): Show |
intron_variant | MODIFIER | c.300-3672T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191300 | ||||||
| chr16:1191303
|
T | C | 7 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(4): Show | 7 | HG02109.hp1 HG02132.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.300-3669T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191303 | ||||||
| chr16:1191303
|
T | TCAGCAGG others(97): Show |
51 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(48): Show | 51 | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.300-3641_300-3640i others(106): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191303 | |||||
| chr16:1191303
|
T | TCAGCAGG others(44): Show |
2 | a0002c0063t0001g0287a0004c0019t0001g0148 | 2 | HG03540.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.300-3640_300-3590d others(53): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191303 | |||||
| chr16:1191307
|
C | T | 4 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(1): Show | 4 | HG02109.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-3665C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191307 | ||||||
| chr16:1191309
|
G | T | 1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-3663G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191309 | ||||||
| chr16:1191320
|
C | T | 1 | a0029c0065t0007g0202 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.300-3652C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191320 | ||||||
| chr16:1191332
|
C | A | 25 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0042others(22): Show | 25 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-3640C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191332 | ||||||
| chr16:1191345
|
G | C | 2 | a0003c0022t0020g0025a0003c0022t0028g0026 | 2 | HG02109.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3627G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191345 | ||||||
| chr16:1191345
|
G | GTC | 12 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(9): Show | 12 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-3623_300-3622d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191345 | |||||
| chr16:1191349
|
CTGACCCA others(46): Show |
C | 2 | a0002c0008t0019g0221a0043c0085t0003g0048 | 2 | HG01891.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.300-3579_300-3527d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191349 | |||||
| chr16:1191350
|
TGACCCAG others(97): Show |
T | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3620_300-3517d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191350 | |||||
| chr16:1191351
|
G | T | 12 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(9): Show | 12 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-3621G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191351 | ||||||
| chr16:1191354
|
C | CCAGCAGG others(46): Show |
1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.300-3575_300-3574i others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191354 | |||||
| chr16:1191354
|
C | CCAGCAGG others(462): Show |
8 | a0001c0001t0001g0051a0001c0001t0001g0112a0001c0001t0001g0113others(5): Show | 8 | HG02129.hp1 HG02155.hp1 NA18950.hp1 others(5): Show |
intron_variant | MODIFIER | c.300-3159_300-3158i others(471): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191354 | |||||
| chr16:1191354
|
C | T | 12 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(9): Show | 12 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-3618C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191354 | ||||||
| chr16:1191383
|
A | C | 12 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(9): Show | 12 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-3589A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191383 | ||||||
| chr16:1191398
|
T | C | 36 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(33): Show | 36 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-3574T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191398 | ||||||
| chr16:1191400
|
CGG | C | 12 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(9): Show | 12 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.300-3571_300-3570d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191400 | ||||||
| chr16:1191401
|
G | T | 24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3571G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191401 | ||||||
| chr16:1191402
|
G | C | 27 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(24): Show | 27 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(24): Show |
intron_variant | MODIFIER | c.300-3570G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191402 | ||||||
| chr16:1191404
|
G | T | 24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3568G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191404 | ||||||
| chr16:1191407
|
C | T | 24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3565C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191407 | ||||||
| chr16:1191413
|
G | T | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0058c0069t0033g0049 | 3 | HG02109.hp2 HG02258.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3559G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191413 | ||||||
| chr16:1191424
|
C | T | 69 | a0001c0001t0001g0177a0001c0001t0001g0231a0001c0001t0001g0292others(66): Show | 69 | HG00639.hp1 HG00642.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.300-3548C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191424 | ||||||
| chr16:1191424
|
CTGTGTGG others(201): Show |
C | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3474_300-3267d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191424 | |||||
| chr16:1191436
|
A | C | 10 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(7): Show | 10 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-3536A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191436 | ||||||
| chr16:1191445
|
C | T | 1 | a0031c0113t0018g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.300-3527C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191445 | ||||||
| chr16:1191446
|
A | G | 37 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(34): Show | 37 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.300-3526A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191446 | ||||||
| chr16:1191451
|
T | C | 35 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(32): Show | 35 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.300-3521T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191451 | ||||||
| chr16:1191452
|
TTG | T | 34 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(31): Show | 34 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.300-3519_300-3518d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191452 | ||||||
| chr16:1191452
|
TTGGTGAC others(203): Show |
T | 1 | a0031c0113t0018g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.300-3519_300-3310d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191452 | ||||||
| chr16:1191453
|
T | C | 2 | a0058c0069t0033g0049a0060c0061t0002g0330 | 2 | HG02258.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.300-3519T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191453 | ||||||
| chr16:1191455
|
G | C | 42 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(39): Show | 42 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(39): Show |
intron_variant | MODIFIER | c.300-3517G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191455 | ||||||
| chr16:1191457
|
G | T | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3515G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191457 | ||||||
| chr16:1191460
|
C | CCAGCAGG others(256): Show |
24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3475_300-3474i others(265): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191460 | |||||
| chr16:1191460
|
C | T | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3512C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191460 | ||||||
| chr16:1191477
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3495C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191477 | ||||||
| chr16:1191489
|
A | C | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3483A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191489 | ||||||
| chr16:1191498
|
T | C | 47 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(44): Show | 47 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.300-3474T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191498 | ||||||
| chr16:1191498
|
TGGGGTCT others(201): Show |
T | 1 | a0002c0002t0018g0069 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.300-3280_300-3073d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191498 | |||||
| chr16:1191499
|
G | A | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3473G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191499 | ||||||
| chr16:1191502
|
G | GTC | 10 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(7): Show | 10 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-3466_300-3465d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191502 | |||||
| chr16:1191504
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3468C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191504 | ||||||
| chr16:1191506
|
C | G | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3466C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191506 | ||||||
| chr16:1191508
|
G | T | 10 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(7): Show | 10 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-3464G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191508 | ||||||
| chr16:1191511
|
C | T | 10 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(7): Show | 10 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.300-3461C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191511 | ||||||
| chr16:1191515
|
T | C | 44 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(41): Show | 44 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.300-3457T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191515 | ||||||
| chr16:1191540
|
A | C | 18 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(15): Show | 18 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.300-3432A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191540 | ||||||
| chr16:1191549
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3423C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191549 | ||||||
| chr16:1191553
|
G | C | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3419G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191553 | ||||||
| chr16:1191553
|
G | GTC | 25 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(22): Show | 25 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-3415_300-3414d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191553 | |||||
| chr16:1191557
|
C | CTGACCCA others(46): Show |
3 | a0002c0008t0001g0316a0002c0008t0002g0233a0002c0109t0001g0080 | 3 | HG00639.hp1 HG01891.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.300-3393_300-3341d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191557 | |||||
| chr16:1191557
|
C | CTGACCCA others(203): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-3341_300-3340i others(212): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191557 | |||||
| chr16:1191557
|
CTGACCCA others(99): Show |
C | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-3366_300-3261d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191557 | |||||
| chr16:1191562
|
C | T | 25 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(22): Show | 25 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-3410C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191562 | ||||||
| chr16:1191566
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3406C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191566 | ||||||
| chr16:1191581
|
G | C | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.300-3391G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191581 | ||||||
| chr16:1191587
|
C | T | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-3385C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191587 | ||||||
| chr16:1191591
|
A | C | 24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3381A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191591 | ||||||
| chr16:1191606
|
T | C | 25 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(22): Show | 25 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-3366T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191606 | ||||||
| chr16:1191608
|
C | T | 1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.300-3364C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191608 | ||||||
| chr16:1191608
|
CGG | C | 25 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(22): Show | 25 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.300-3363_300-3362d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191608 | ||||||
| chr16:1191608
|
CGGTGACC others(254): Show |
C | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.300-3340_300-3080d others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191608 | |||||
| chr16:1191610
|
G | C | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3362G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191610 | ||||||
| chr16:1191621
|
G | T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3351G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191621 | ||||||
| chr16:1191632
|
T | C | 33 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(30): Show | 33 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.300-3340T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191632 | ||||||
| chr16:1191632
|
T | TTGTGTGG others(46): Show |
3 | a0006c0004t0004g0003a0006c0004t0004g0285a0006c0004t0004g0286 | 4 | HG01167.hp1 HG01169.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.300-3318_300-3266d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191632 | |||||
| chr16:1191653
|
C | T | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3319C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191653 | ||||||
| chr16:1191654
|
A | G | 38 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(35): Show | 38 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(35): Show |
intron_variant | MODIFIER | c.300-3318A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191654 | ||||||
| chr16:1191659
|
T | C | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3313T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191659 | ||||||
| chr16:1191660
|
TTG | T | 8 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(5): Show | 8 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.300-3311_300-3310d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191660 | ||||||
| chr16:1191661
|
T | C | 30 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(27): Show | 30 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.300-3311T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191661 | ||||||
| chr16:1191663
|
G | C | 9 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(6): Show | 9 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-3309G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191663 | ||||||
| chr16:1191672
|
C | T | 9 | a0002c0008t0019g0031a0002c0012t0001g0318a0002c0012t0002g0050others(6): Show | 9 | HG02630.hp1 HG02723.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.300-3300C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191672 | ||||||
| chr16:1191679
|
G | C | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3293G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191679 | ||||||
| chr16:1191685
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3287C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191685 | ||||||
| chr16:1191706
|
C | CGGGGTCT others(44): Show |
24 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(21): Show | 24 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(21): Show |
intron_variant | MODIFIER | c.300-3250_300-3249i others(53): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191706 | |||||
| chr16:1191706
|
C | CGGGGTCT others(146): Show |
1 | a0002c0108t0027g0104 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.300-3199_300-3198i others(155): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191706 | |||||
| chr16:1191707
|
G | A | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3265G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191707 | ||||||
| chr16:1191710
|
G | T | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-3262G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191710 | ||||||
| chr16:1191712
|
C | T | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3260C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191712 | ||||||
| chr16:1191714
|
C | G | 1 | a0060c0061t0002g0330 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.300-3258C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191714 | ||||||
| chr16:1191723
|
T | C | 7 | a0001c0001t0001g0322a0002c0002t0001g0018a0003c0028t0004g0325others(4): Show | 7 | HG02055.hp1 HG02451.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-3249T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191723 | ||||||
| chr16:1191761
|
G | GTC | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3207_300-3206d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191761 | |||||
| chr16:1191763
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-3209C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191763 | ||||||
| chr16:1191765
|
CTGACCCA others(46): Show |
C | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.300-3185_300-3133d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191765 | |||||
| chr16:1191770
|
C | T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3202C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191770 | ||||||
| chr16:1191787
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-3185C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191787 | ||||||
| chr16:1191809
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-3163G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191809 | ||||||
| chr16:1191814
|
T | C | 4 | a0002c0002t0001g0324a0003c0022t0020g0025a0003c0022t0028g0026others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3158T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191814 | ||||||
| chr16:1191816
|
CGGTGACC others(46): Show |
C | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-3132_300-3080d others(55): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191816 | |||||
| chr16:1191817
|
G | T | 4 | a0002c0002t0001g0324a0003c0022t0020g0025a0003c0022t0028g0026others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3155G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191817 | ||||||
| chr16:1191818
|
G | C | 4 | a0002c0002t0001g0324a0003c0022t0020g0025a0003c0022t0028g0026others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3154G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191818 | ||||||
| chr16:1191818
|
G | GTGACCCA others(148): Show |
2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.300-3073_300-3072i others(157): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1191818 | |||||
| chr16:1191823
|
C | T | 4 | a0002c0002t0001g0324a0003c0022t0020g0025a0003c0022t0028g0026others(1): Show | 4 | HG02109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-3149C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191823 | ||||||
| chr16:1191840
|
T | C | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3132T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191840 | ||||||
| chr16:1191852
|
A | G | 1 | a0050c0102t0002g0099 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.300-3120A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191852 | ||||||
| chr16:1191862
|
A | G | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3110A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191862 | ||||||
| chr16:1191869
|
T | C | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0029c0065t0007g0202 | 3 | HG02109.hp2 HG02280.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.300-3103T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191869 | ||||||
| chr16:1191870
|
G | T | 7 | a0001c0001t0001g0322a0003c0022t0020g0025a0003c0022t0028g0026others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-3102G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191870 | ||||||
| chr16:1191871
|
G | C | 7 | a0001c0001t0001g0322a0003c0022t0020g0025a0003c0022t0028g0026others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.300-3101G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191871 | ||||||
| chr16:1191880
|
C | T | 11 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(8): Show | 11 | HG01109.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.300-3092C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191880 | ||||||
| chr16:1191900
|
A | G | 13 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(10): Show | 13 | HG01109.hp2 HG01981.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.300-3072A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191900 | ||||||
| chr16:1191997
|
G | A | 92 | a0001c0001t0001g0140a0001c0001t0001g0177a0001c0001t0001g0182others(89): Show | 92 | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.300-2975G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1191997 | ||||||
| chr16:1192042
|
A | G | 1 | a0002c0011t0002g0203 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.300-2930A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192042 | ||||||
| chr16:1192069
|
G | C | 1 | a0001c0001t0010g0155 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.300-2903G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192069 | ||||||
| chr16:1192173
|
G | A | 1 | a0001c0088t0001g0016 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.300-2799G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192173 | ||||||
| chr16:1192190
|
C | T | 1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.300-2782C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192190 | ||||||
| chr16:1192194
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.300-2778C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192194 | ||||||
| chr16:1192226
|
C | T | 1 | a0001c0001t0001g0212 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.300-2746C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192226 | ||||||
| chr16:1192259
|
G | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.300-2713G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192259 | ||||||
| chr16:1192300
|
T | C | 124 | a0001c0001t0001g0140a0001c0001t0001g0177a0001c0001t0001g0182others(121): Show | 124 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(121): Show |
intron_variant | MODIFIER | c.300-2672T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192300 | ||||||
| chr16:1192301
|
C | G | 1 | a0001c0001t0001g0195 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.300-2671C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192301 | ||||||
| chr16:1192322
|
T | C | 124 | a0001c0001t0001g0140a0001c0001t0001g0177a0001c0001t0001g0182others(121): Show | 124 | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(121): Show |
intron_variant | MODIFIER | c.300-2650T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192322 | ||||||
| chr16:1192332
|
GTGCCACC others(6): Show |
G | 4 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(1): Show | 4 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.300-2634_300-2622d others(15): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1192332 | |||||
| chr16:1192334
|
G | C | 12 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(9): Show | 12 | HG01109.hp2 HG01981.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.300-2638G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192334 | ||||||
| chr16:1192522
|
C | T | 3 | a0007c0005t0003g0149a0007c0052t0007g0053a0051c0054t0003g0130 | 3 | HG00735.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.300-2450C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192522 | ||||||
| chr16:1192803
|
G | A | 1 | a0037c0081t0001g0088 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.300-2169G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192803 | ||||||
| chr16:1192875
|
G | GCTGGTTA others(37): Show |
1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-2091_300-2090i others(46): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1192875 | |||||
| chr16:1192919
|
G | A | 1 | a0007c0005t0008g0257 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.300-2053G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192919 | ||||||
| chr16:1192950
|
G | T | 3 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.300-2022G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1192950 | ||||||
| chr16:1193055
|
C | G | 2 | a0001c0001t0001g0236a0001c0001t0005g0268 | 2 | HG03491.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.300-1917C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193055 | ||||||
| chr16:1193073
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.300-1899C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193073 | ||||||
| chr16:1193099
|
G | A | 13 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(10): Show | 13 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.300-1873G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193099 | ||||||
| chr16:1193107
|
C | T | 1 | a0002c0007t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.300-1865C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193107 | ||||||
| chr16:1193156
|
C | T | 1 | a0002c0035t0001g0288 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.300-1816C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193156 | ||||||
| chr16:1193194
|
T | C | 54 | a0001c0001t0001g0219a0001c0001t0001g0322a0001c0031t0001g0217others(51): Show | 54 | HG00558.hp2 HG01109.hp2 HG01243.hp1 others(51): Show |
intron_variant | MODIFIER | c.300-1778T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193194 | ||||||
| chr16:1193384
|
C | T | 1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.300-1588C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193384 | ||||||
| chr16:1193486
|
C | G | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.300-1486C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193486 | ||||||
| chr16:1193497
|
T | A | 3 | a0008c0009t0007g0163a0008c0009t0007g0171a0012c0036t0001g0011 | 3 | HG03017.hp1 HG03834.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.300-1475T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193497 | ||||||
| chr16:1193519
|
G | T | 1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.300-1453G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193519 | ||||||
| chr16:1193557
|
T | C | 296 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(293): Show | 299 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(296): Show |
intron_variant | MODIFIER | c.300-1415T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193557 | ||||||
| chr16:1193564
|
C | T | 1 | a0048c0093t0002g0089 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.300-1408C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193564 | ||||||
| chr16:1193598
|
G | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-1374G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193598 | ||||||
| chr16:1193689
|
G | A | 1 | a0002c0007t0002g0237 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.300-1283G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193689 | ||||||
| chr16:1193692
|
C | T | 23 | a0001c0094t0016g0093a0002c0002t0001g0209a0002c0008t0001g0316others(20): Show | 23 | HG00639.hp1 HG01884.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.300-1280C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193692 | ||||||
| chr16:1193739
|
C | T | 1 | a0002c0010t0001g0019 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.300-1233C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193739 | ||||||
| chr16:1193798
|
C | G | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.300-1174C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193798 | ||||||
| chr16:1193864
|
A | C | 1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.300-1108A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193864 | ||||||
| chr16:1193871
|
C | G | 1 | a0016c0026t0008g0279 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.300-1101C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193871 | ||||||
| chr16:1193939
|
C | G | 2 | a0005c0003t0001g0154a0005c0003t0001g0192 | 2 | HG02559.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.300-1033C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193939 | ||||||
| chr16:1193951
|
C | T | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.300-1021C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193951 | ||||||
| chr16:1193982
|
C | T | 1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.300-990C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1193982 | ||||||
| chr16:1194019
|
C | G | 18 | a0001c0094t0016g0093a0002c0002t0001g0209a0002c0011t0001g0225others(15): Show | 18 | HG01884.hp2 HG02109.hp2 HG02622.hp1 others(15): Show |
intron_variant | MODIFIER | c.300-953C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194019 | ||||||
| chr16:1194036
|
C | T | 9 | a0001c0001t0001g0136a0002c0002t0001g0018a0002c0002t0001g0239others(6): Show | 9 | HG02615.hp1 HG02615.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.300-936C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194036 | ||||||
| chr16:1194037
|
G | A | 2 | a0001c0001t0002g0196a0002c0010t0005g0270 | 2 | HG00544.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.300-935G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194037 | ||||||
| chr16:1194201
|
G | A | 211 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(208): Show | 214 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.300-771G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194201 | ||||||
| chr16:1194224
|
C | T | 1 | a0003c0133t0004g0046 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.300-748C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194224 | ||||||
| chr16:1194274
|
C | T | 1 | a0001c0001t0002g0090 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.300-698C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194274 | ||||||
| chr16:1194281
|
C | G | 1 | a0009c0016t0006g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.300-691C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194281 | ||||||
| chr16:1194308
|
G | A | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.300-664G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194308 | ||||||
| chr16:1194363
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.300-609G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194363 | ||||||
| chr16:1194376
|
C | T | 2 | a0072c0123t0006g0059a0073c0125t0001g0047 | 2 | HG02280.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.300-596C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194376 | ||||||
| chr16:1194380
|
C | T | 163 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(160): Show | 165 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(162): Show |
intron_variant | MODIFIER | c.300-592C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194380 | ||||||
| chr16:1194489
|
G | A | 1 | a0005c0003t0001g0021 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.300-483G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194489 | ||||||
| chr16:1194493
|
A | T | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.300-479A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194493 | ||||||
| chr16:1194526
|
G | A | 10 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(7): Show | 10 | HG00597.hp1 HG02809.hp1 HG03130.hp1 others(7): Show |
intron_variant | MODIFIER | c.300-446G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194526 | ||||||
| chr16:1194631
|
C | T | 36 | a0001c0001t0009g0216a0002c0008t0019g0031a0002c0008t0019g0221others(33): Show | 36 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(33): Show |
intron_variant | MODIFIER | c.300-341C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194631 | ||||||
| chr16:1194730
|
G | GGCCA | 6 | a0002c0002t0001g0017a0002c0043t0001g0204a0003c0068t0004g0290others(3): Show | 6 | HG02258.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.300-240_300-237dup others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | 1194730 | |||||
| chr16:1194816
|
G | A | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.300-156G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194816 | ||||||
| chr16:1194870
|
C | G | 2 | a0002c0025t0001g0223a0002c0025t0001g0226 | 2 | HG01884.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.300-102C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194870 | ||||||
| chr16:1194877
|
G | A | 286 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(283): Show | 289 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(286): Show |
intron_variant | MODIFIER | c.300-95G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194877 | ||||||
| chr16:1194882
|
G | A | 1 | a0002c0002t0001g0042 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.300-90G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194882 | ||||||
| chr16:1194887
|
T | A | 99 | a0001c0001t0001g0043a0001c0001t0001g0198a0001c0001t0001g0322others(96): Show | 99 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(96): Show |
intron_variant | MODIFIER | c.300-85T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194887 | ||||||
| chr16:1194888
|
C | A | 1 | a0024c0037t0004g0056 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.300-84C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194888 | ||||||
| chr16:1194892
|
C | T | 1 | a0040c0100t0007g0111 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.300-80C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | 1194892 | ||||||
| chr16:1195123
|
G | A | 4 | a0003c0015t0011g0015a0008c0023t0003g0129a0031c0113t0018g0214others(1): Show | 4 | HG02723.hp1 HG02886.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.411+40G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195123 | ||||||
| chr16:1195146
|
C | G | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.411+63C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195146 | ||||||
| chr16:1195146
|
C | T | 1 | a0069c0121t0005g0264 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.411+63C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195146 | ||||||
| chr16:1195166
|
G | A | 2 | a0069c0121t0005g0264a0078c0046t0004g0076 | 2 | HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.411+83G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195166 | ||||||
| chr16:1195207
|
A | ATCAGGGC others(5): Show |
1 | a0008c0023t0003g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.411+131_411+132ins others(12): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr16 | 1195207 | |||||
| chr16:1195207
|
A | ATCAGGGC others(5): Show |
6 | a0003c0022t0020g0025a0003c0022t0028g0026a0003c0068t0004g0290others(3): Show | 6 | HG02109.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.411+128_411+139dup others(12): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr16 | 1195207 | |||||
| chr16:1195211
|
G | A | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.411+128G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195211 | ||||||
| chr16:1195234
|
G | A | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.411+151G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195234 | ||||||
| chr16:1195280
|
G | A | 1 | a0003c0028t0004g0325 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.412-152G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195280 | ||||||
| chr16:1195293
|
G | A | 28 | a0002c0008t0019g0031a0002c0008t0019g0221a0003c0015t0011g0015others(25): Show | 28 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.412-139G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195293 | ||||||
| chr16:1195315
|
C | A | 1 | a0005c0003t0002g0173 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.412-117C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195315 | ||||||
| chr16:1195361
|
C | T | 15 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(12): Show | 15 | HG01884.hp2 HG02809.hp2 HG02922.hp1 others(12): Show |
intron_variant | MODIFIER | c.412-71C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195361 | ||||||
| chr16:1195381
|
G | C | 1 | a0001c0001t0001g0296 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.412-51G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195381 | ||||||
| chr16:1195385
|
G | C | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.412-47G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195385 | ||||||
| chr16:1195386
|
C | T | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.412-46C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 3/34 | chr16 | 1195386 | ||||||
| chr16:1195747
|
C | T | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.546-179C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/34 | chr16 | 1195747 | ||||||
| chr16:1195765
|
C | T | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.546-161C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/34 | chr16 | 1195765 | ||||||
| chr16:1195784
|
C | T | 11 | a0002c0007t0002g0237a0002c0007t0003g0070a0002c0007t0003g0071others(8): Show | 11 | HG00558.hp2 HG01261.hp2 HG02074.hp2 others(8): Show |
intron_variant | MODIFIER | c.546-142C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/34 | chr16 | 1195784 | ||||||
| chr16:1195864
|
C | A | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.546-62C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/34 | chr16 | 1195864 | ||||||
| chr16:1195916
|
C | T | 13 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(10): Show | 13 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.546-10C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 4/34 | chr16 | 1195916 | ||||||
| chr16:1196067
|
G | A | 3 | a0002c0058t0023g0027a0026c0128t0040g0014a0030c0067t0020g0323 | 3 | HG02451.hp1 HG03540.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.643+44G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196067 | ||||||
| chr16:1196071
|
C | G | 2 | a0002c0025t0001g0223a0002c0025t0001g0226 | 2 | HG01884.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.643+48C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196071 | ||||||
| chr16:1196071
|
C | T | 5 | a0002c0008t0002g0233a0002c0008t0019g0031a0002c0008t0019g0221others(2): Show | 5 | HG00639.hp1 HG01891.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.643+48C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196071 | ||||||
| chr16:1196072
|
C | T | 1 | a0046c0096t0001g0105 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.643+49C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196072 | ||||||
| chr16:1196145
|
G | A | 1 | a0001c0001t0002g0238 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.643+122G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196145 | ||||||
| chr16:1196211
|
G | A | 50 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0079others(47): Show | 50 | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(47): Show |
intron_variant | MODIFIER | c.643+188G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196211 | ||||||
| chr16:1196255
|
A | C | 100 | a0001c0001t0001g0327a0002c0007t0001g0029a0002c0007t0001g0030others(97): Show | 100 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(97): Show |
intron_variant | MODIFIER | c.643+232A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196255 | ||||||
| chr16:1196270
|
A | G | 100 | a0001c0001t0001g0327a0002c0007t0001g0029a0002c0007t0001g0030others(97): Show | 100 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(97): Show |
intron_variant | MODIFIER | c.643+247A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196270 | ||||||
| chr16:1196293
|
G | A | 1 | a0002c0013t0036g0206 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.643+270G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196293 | ||||||
| chr16:1196390
|
G | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.643+367G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196390 | ||||||
| chr16:1196393
|
G | C | 2 | a0002c0011t0002g0201a0002c0011t0002g0203 | 2 | HG02809.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.643+370G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196393 | ||||||
| chr16:1196506
|
T | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.643+483T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196506 | ||||||
| chr16:1196709
|
T | C | 1 | a0008c0009t0008g0253 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.643+686T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196709 | ||||||
| chr16:1196720
|
T | C | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.643+697T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196720 | ||||||
| chr16:1196747
|
C | A | 13 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0020t0041g0297others(10): Show | 13 | HG00323.hp2 HG01081.hp1 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.643+724C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196747 | ||||||
| chr16:1196748
|
A | G | 96 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(93): Show | 96 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.643+725A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196748 | ||||||
| chr16:1196875
|
G | T | 14 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(11): Show | 14 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.643+852G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196875 | ||||||
| chr16:1196908
|
G | A | 1 | a0001c0086t0001g0023 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.643+885G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196908 | ||||||
| chr16:1196923
|
G | A | 2 | a0002c0058t0023g0027a0026c0128t0040g0014 | 2 | HG02451.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.643+900G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196923 | ||||||
| chr16:1196924
|
T | G | 4 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(1): Show | 4 | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.643+901T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196924 | ||||||
| chr16:1196948
|
C | T | 3 | a0002c0002t0001g0018a0054c0074t0001g0283a0061c0080t0001g0227 | 3 | HG01884.hp1 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.643+925C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196948 | ||||||
| chr16:1196966
|
C | T | 2 | a0002c0058t0023g0027a0026c0128t0040g0014 | 2 | HG02451.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.643+943C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1196966 | ||||||
| chr16:1197031
|
C | T | 1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.643+1008C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197031 | ||||||
| chr16:1197033
|
C | A | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.643+1010C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197033 | ||||||
| chr16:1197176
|
G | A | 3 | a0031c0113t0018g0214a0046c0096t0001g0105a0077c0048t0016g0032 | 3 | HG02886.hp2 HG03471.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.643+1153G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197176 | ||||||
| chr16:1197255
|
A | C | 4 | a0002c0058t0023g0027a0026c0128t0040g0014a0074c0120t0037g0067others(1): Show | 4 | HG01175.hp2 HG02451.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.643+1232A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197255 | ||||||
| chr16:1197304
|
G | C | 1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.643+1281G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197304 | ||||||
| chr16:1197321
|
C | T | 1 | a0002c0002t0026g0241 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.644-1294C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197321 | ||||||
| chr16:1197337
|
T | C | 98 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(95): Show | 98 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.644-1278T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197337 | ||||||
| chr16:1197352
|
G | A | 1 | a0006c0004t0004g0187 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.644-1263G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197352 | ||||||
| chr16:1197420
|
A | T | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.644-1195A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197420 | ||||||
| chr16:1197482
|
T | C | 51 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(48): Show | 51 | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(48): Show |
intron_variant | MODIFIER | c.644-1133T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197482 | ||||||
| chr16:1197571
|
T | C | 87 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(84): Show | 87 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(84): Show |
intron_variant | MODIFIER | c.644-1044T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197571 | ||||||
| chr16:1197572
|
G | A | 1 | a0040c0100t0007g0111 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.644-1043G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197572 | ||||||
| chr16:1197606
|
G | A | 98 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(95): Show | 98 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.644-1009G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197606 | ||||||
| chr16:1197760
|
G | A | 1 | a0017c0064t0032g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.644-855G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197760 | ||||||
| chr16:1197764
|
G | A | 1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.644-851G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197764 | ||||||
| chr16:1197829
|
G | C | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.644-786G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197829 | ||||||
| chr16:1197880
|
G | A | 1 | a0002c0014t0007g0081 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.644-735G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197880 | ||||||
| chr16:1197932
|
C | T | 5 | a0069c0121t0005g0264a0070c0122t0003g0326a0074c0120t0037g0067others(2): Show | 5 | HG01175.hp2 HG02615.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.644-683C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197932 | ||||||
| chr16:1197953
|
C | T | 46 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(43): Show | 46 | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.644-662C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197953 | ||||||
| chr16:1197954
|
C | T | 3 | a0002c0002t0001g0042a0002c0002t0001g0324a0002c0002t0026g0241 | 3 | HG02109.hp1 HG02723.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.644-661C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197954 | ||||||
| chr16:1197974
|
C | G | 15 | a0003c0068t0004g0290a0011c0020t0006g0061a0011c0020t0012g0335others(12): Show | 15 | HG00323.hp2 HG01081.hp1 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.644-641C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1197974 | ||||||
| chr16:1198005
|
C | T | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.644-610C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198005 | ||||||
| chr16:1198020
|
C | T | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.644-595C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198020 | ||||||
| chr16:1198028
|
T | C | 55 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(52): Show | 55 | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(52): Show |
intron_variant | MODIFIER | c.644-587T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198028 | ||||||
| chr16:1198247
|
ACCTGCCG others(10): Show |
A | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.644-361_644-345del others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr16 | 1198247 | |||||
| chr16:1198283
|
C | T | 12 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(9): Show | 12 | HG01884.hp2 HG02809.hp2 HG02922.hp1 others(9): Show |
intron_variant | MODIFIER | c.644-332C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198283 | ||||||
| chr16:1198314
|
C | G | 8 | a0005c0003t0001g0021a0005c0003t0001g0154a0005c0003t0001g0178others(5): Show | 8 | HG00099.hp1 HG00323.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.644-301C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198314 | ||||||
| chr16:1198371
|
C | T | 46 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(43): Show | 46 | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.644-244C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198371 | ||||||
| chr16:1198374
|
G | C | 38 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(35): Show | 38 | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.644-241G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198374 | ||||||
| chr16:1198482
|
C | T | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.644-133C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198482 | ||||||
| chr16:1198501
|
C | G | 2 | a0002c0025t0001g0223a0002c0025t0001g0226 | 2 | HG01884.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.644-114C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198501 | ||||||
| chr16:1198527
|
C | T | 12 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(9): Show | 12 | HG01884.hp2 HG02809.hp2 HG02922.hp1 others(9): Show |
intron_variant | MODIFIER | c.644-88C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198527 | ||||||
| chr16:1198528
|
G | A | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.644-87G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198528 | ||||||
| chr16:1198559
|
C | T | 3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.644-56C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | chr16 | 1198559 | ||||||
| chr16:1198842
|
A | G | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.803+68A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198842 | ||||||
| chr16:1198862
|
G | A | 2 | a0003c0068t0004g0290a0058c0069t0033g0049 | 2 | HG02258.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.803+88G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198862 | ||||||
| chr16:1198890
|
C | T | 8 | a0005c0003t0001g0021a0005c0003t0001g0154a0005c0003t0001g0178others(5): Show | 8 | HG00099.hp1 HG00323.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.803+116C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198890 | ||||||
| chr16:1198905
|
C | T | 1 | a0051c0054t0003g0130 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.803+131C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198905 | ||||||
| chr16:1198919
|
C | T | 8 | a0002c0055t0001g0215a0002c0063t0001g0287a0003c0060t0039g0317others(5): Show | 8 | HG02486.hp2 HG02572.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.803+145C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198919 | ||||||
| chr16:1198920
|
G | C | 1 | a0001c0001t0001g0043 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.803+146G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198920 | ||||||
| chr16:1198937
|
C | T | 15 | a0003c0068t0004g0290a0011c0020t0006g0061a0011c0020t0012g0335others(12): Show | 15 | HG00323.hp2 HG01081.hp1 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.803+163C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198937 | ||||||
| chr16:1198952
|
A | C | 7 | a0002c0011t0001g0225a0002c0011t0005g0273a0002c0025t0001g0223others(4): Show | 7 | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+178A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198952 | ||||||
| chr16:1198961
|
C | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.803+187C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198961 | ||||||
| chr16:1198963
|
G | A | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.803+189G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198963 | ||||||
| chr16:1198977
|
C | T | 5 | a0011c0129t0012g0122a0012c0038t0001g0295a0012c0038t0002g0115others(2): Show | 5 | HG02040.hp2 HG02083.hp1 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+203C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198977 | ||||||
| chr16:1198996
|
G | A | 1 | a0004c0006t0001g0301 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.803+222G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1198996 | ||||||
| chr16:1199004
|
TGCAGTCG others(42): Show |
T | 2 | a0023c0029t0001g0183a0023c0029t0001g0194 | 2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.803+270_803+318del others(49): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199004 | |||||
| chr16:1199024
|
C | T | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.803+250C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199024 | ||||||
| chr16:1199025
|
C | T | 1 | a0010c0024t0001g0300 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.803+251C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199025 | ||||||
| chr16:1199045
|
G | A | 9 | a0001c0001t0001g0079a0001c0001t0001g0296a0001c0001t0002g0084others(6): Show | 9 | HG00423.hp2 HG00558.hp1 HG00621.hp2 others(6): Show |
intron_variant | MODIFIER | c.803+271G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199045 | ||||||
| chr16:1199051
|
C | T | 38 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(35): Show | 38 | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.803+277C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199051 | ||||||
| chr16:1199052
|
GCGCAGTC others(42): Show |
G | 2 | a0002c0002t0018g0069a0002c0014t0008g0267 | 2 | HG00438.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.803+308_803+356del others(49): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199052 | |||||
| chr16:1199053
|
C | T | 51 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(48): Show | 51 | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(48): Show |
intron_variant | MODIFIER | c.803+279C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199053 | ||||||
| chr16:1199053
|
CGCAGTCG others(186): Show |
C | 6 | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.803+319_803+511del | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199053 | |||||
| chr16:1199056
|
AGTCGCTG others(90): Show |
A | 6 | a0001c0001t0001g0177a0002c0002t0001g0244a0019c0033t0005g0254others(3): Show | 7 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+308_803+404del others(97): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199056 | |||||
| chr16:1199084
|
C | T | 2 | a0002c0002t0001g0007a0002c0002t0001g0008 | 2 | HG02145.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.803+310C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199084 | ||||||
| chr16:1199093
|
T | C | 93 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0007t0001g0029others(90): Show | 93 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.803+319T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199093 | ||||||
| chr16:1199101
|
A | G | 93 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0007t0001g0029others(90): Show | 93 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.803+327A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199101 | ||||||
| chr16:1199101
|
ACGCAGTC others(186): Show |
A | 1 | a0002c0008t0001g0185 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.803+416_803+608del | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199101 | |||||
| chr16:1199102
|
C | T | 2 | a0002c0002t0001g0007a0002c0002t0001g0008 | 2 | HG02145.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.803+328C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199102 | ||||||
| chr16:1199105
|
A | G | 4 | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0055t0001g0215others(1): Show | 4 | HG02145.hp1 HG02486.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.803+331A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199105 | ||||||
| chr16:1199142
|
G | A | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.803+368G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199142 | ||||||
| chr16:1199154
|
G | A | 5 | a0001c0001t0001g0307a0004c0006t0001g0294a0004c0006t0001g0303others(2): Show | 5 | HG02080.hp2 NA18945.hp2 NA18966.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+380G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199154 | ||||||
| chr16:1199180
|
T | TCATGGCT others(185): Show |
1 | a0002c0007t0002g0237 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.803+415_803+416ins others(192): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199180 | |||||
| chr16:1199180
|
T | TCATGGCT others(185): Show |
1 | a0030c0067t0020g0323 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.803+415_803+416ins others(192): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199180 | |||||
| chr16:1199180
|
T | TCATGGCT others(138): Show |
1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.803+415_803+416ins others(145): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199180 | |||||
| chr16:1199190
|
A | ACCCACCG others(332): Show |
3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.803+442_803+443ins others(339): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(283): Show |
19 | a0005c0003t0001g0021a0005c0003t0001g0154a0005c0003t0001g0178others(16): Show | 19 | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.803+442_803+443ins others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(283): Show |
2 | a0005c0050t0001g0125a0007c0005t0003g0181 | 2 | HG00642.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.803+442_803+443ins others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(283): Show |
9 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(6): Show | 9 | HG02109.hp2 HG02630.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.803+442_803+443ins others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(284): Show |
1 | a0005c0003t0001g0192 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.803+442_803+443ins others(291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(185): Show |
5 | a0003c0015t0011g0015a0008c0056t0038g0224a0017c0064t0032g0276others(2): Show | 5 | HG02280.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+474_803+475ins others(192): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(283): Show |
2 | a0020c0021t0004g0147a0020c0021t0004g0235 | 2 | NA18970.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.803+474_803+475ins others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | ACCCACCG others(186): Show |
1 | a0065c0042t0003g0230 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.803+474_803+475ins others(193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199190 | |||||
| chr16:1199190
|
A | G | 6 | a0002c0007t0002g0237a0008c0023t0003g0129a0026c0128t0040g0014others(3): Show | 6 | HG01175.hp2 HG02451.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.803+416A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199190 | ||||||
| chr16:1199204
|
C | CGCTGCAC others(186): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.803+452_803+453ins others(193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199204 | |||||
| chr16:1199206
|
C | G | 1 | a0001c0001t0001g0133 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.803+432C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199206 | ||||||
| chr16:1199217
|
C | A | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.803+443C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199217 | ||||||
| chr16:1199218
|
C | G | 3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.803+444C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199218 | ||||||
| chr16:1199228
|
T | C | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.803+454T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199228 | ||||||
| chr16:1199246
|
T | C | 3 | a0005c0003t0001g0178a0074c0120t0037g0067a0075c0119t0001g0313 | 3 | HG01175.hp2 HG01978.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.803+472T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199246 | ||||||
| chr16:1199246
|
TGCAGTCG others(42): Show |
T | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.803+501_803+549del others(49): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199246 | |||||
| chr16:1199249
|
A | G | 89 | a0001c0001t0001g0133a0001c0001t0001g0150a0001c0001t0002g0143others(86): Show | 90 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.803+475A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199249 | ||||||
| chr16:1199252
|
C | A | 28 | a0002c0007t0002g0237a0002c0011t0001g0225a0002c0011t0001g0289others(25): Show | 28 | HG00323.hp2 HG01081.hp1 HG01243.hp2 others(25): Show |
intron_variant | MODIFIER | c.803+478C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199252 | ||||||
| chr16:1199252
|
C | CGCTGCAC others(185): Show |
7 | a0002c0007t0003g0070a0002c0007t0003g0071a0002c0007t0003g0304others(4): Show | 7 | HG01261.hp2 NA18959.hp2 NA18967.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+500_803+501ins others(192): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199252 | |||||
| chr16:1199252
|
C | CGCTGCAC others(185): Show |
2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.803+500_803+501ins others(192): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199252 | |||||
| chr16:1199252
|
C | T | 3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.803+478C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199252 | ||||||
| chr16:1199269
|
AC | A | 26 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(23): Show | 26 | HG01175.hp2 HG01243.hp2 HG01361.hp2 others(23): Show |
intron_variant | MODIFIER | c.803+501delC | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199269 | |||||
| chr16:1199270
|
C | CCCCCACC others(233): Show |
1 | a0012c0036t0001g0035 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.803+500_803+501ins others(240): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199270 | |||||
| chr16:1199270
|
C | CCCCCACC others(233): Show |
3 | a0011c0020t0041g0297a0071c0124t0003g0103a0073c0125t0001g0047 | 3 | HG00323.hp2 HG01081.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.803+500_803+501ins others(240): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199270 | |||||
| chr16:1199270
|
C | CCCCCATC others(233): Show |
2 | a0003c0015t0004g0060a0080c0045t0005g0274 | 2 | HG00558.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.803+500_803+501ins others(240): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199270 | |||||
| chr16:1199277
|
C | T | 8 | a0003c0015t0004g0060a0011c0020t0041g0297a0012c0036t0001g0035others(5): Show | 8 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.803+503C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199277 | ||||||
| chr16:1199287
|
G | A | 1 | a0073c0125t0001g0047 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.803+513G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199287 | ||||||
| chr16:1199293
|
C | T | 1 | a0053c0053t0001g0004 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.803+519C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199293 | ||||||
| chr16:1199294
|
G | T | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.803+520G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199294 | ||||||
| chr16:1199295
|
C | T | 55 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(52): Show | 55 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.803+521C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199295 | ||||||
| chr16:1199298
|
A | AGTCGCTG others(41): Show |
5 | a0002c0013t0001g0170a0002c0013t0001g0175a0002c0013t0001g0176others(2): Show | 5 | HG00099.hp2 HG00140.hp2 HG01109.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+568_803+569ins others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199298 | |||||
| chr16:1199298
|
A | AGTCGCTG others(41): Show |
2 | a0001c0040t0001g0228a0043c0085t0003g0048 | 2 | HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.803+567_803+614dup others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199298 | |||||
| chr16:1199298
|
A | AGTCGCTG others(283): Show |
1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.803+549_803+550ins others(290): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199298 | |||||
| chr16:1199298
|
A | G | 80 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(77): Show | 80 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.803+524A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199298 | ||||||
| chr16:1199302
|
G | A | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.803+528G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199302 | ||||||
| chr16:1199325
|
T | TCATGGCT others(42): Show |
6 | a0002c0011t0001g0289a0002c0011t0002g0201a0002c0011t0002g0203others(3): Show | 6 | HG02258.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.803+574_803+575ins others(49): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199325 | |||||
| chr16:1199335
|
G | A | 4 | a0011c0020t0041g0297a0012c0036t0001g0035a0071c0124t0003g0103others(1): Show | 4 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.803+561G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199335 | ||||||
| chr16:1199335
|
G | GCCCACCG others(234): Show |
1 | a0012c0038t0001g0295 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.803+574_803+575ins others(241): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199335 | |||||
| chr16:1199335
|
G | GCCCACCG others(234): Show |
2 | a0025c0047t0005g0247a0072c0123t0006g0059 | 2 | HG03704.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.803+574_803+575ins others(241): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199335 | |||||
| chr16:1199335
|
G | GCCCACCG others(234): Show |
7 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0129t0012g0122others(4): Show | 7 | HG01243.hp2 HG01361.hp2 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+574_803+575ins others(241): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199335 | |||||
| chr16:1199341
|
CGTGCGGT others(41): Show |
C | 1 | a0002c0002t0001g0157 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.803+615_803+662del others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199341 | |||||
| chr16:1199344
|
G | T | 47 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0052others(44): Show | 47 | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(44): Show |
intron_variant | MODIFIER | c.803+570G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199344 | ||||||
| chr16:1199345
|
C | T | 48 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0052others(45): Show | 48 | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(45): Show |
intron_variant | MODIFIER | c.803+571C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199345 | ||||||
| chr16:1199366
|
A | ACCCCATC others(186): Show |
1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.803+596_803+597ins others(193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199366 | |||||
| chr16:1199371
|
C | T | 2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.803+597C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199371 | ||||||
| chr16:1199373
|
T | C | 2 | a0067c0130t0004g0309a0070c0122t0003g0326 | 2 | HG02074.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.803+599T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199373 | ||||||
| chr16:1199376
|
T | C | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.803+602T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199376 | ||||||
| chr16:1199383
|
G | A | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.803+609G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199383 | ||||||
| chr16:1199383
|
GCCCACGG others(89): Show |
G | 1 | a0077c0048t0016g0032 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.803+615_803+710del others(96): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199383 | |||||
| chr16:1199388
|
C | T | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.803+614C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199388 | ||||||
| chr16:1199389
|
G | C | 332 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(329): Show | 335 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
intron_variant | MODIFIER | c.803+615G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199389 | ||||||
| chr16:1199391
|
T | C | 1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.803+617T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199391 | ||||||
| chr16:1199391
|
T | TGCGGTCG others(42): Show |
2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.803+645_803+646ins others(49): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199391 | |||||
| chr16:1199417
|
C | G | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.803+643C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199417 | ||||||
| chr16:1199431
|
G | A | 21 | a0002c0011t0001g0225a0002c0011t0005g0273a0002c0025t0001g0223others(18): Show | 21 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.803+657G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199431 | ||||||
| chr16:1199431
|
G | GCCCACCG others(41): Show |
5 | a0002c0011t0001g0289a0002c0011t0002g0201a0002c0011t0002g0203others(2): Show | 5 | HG02258.hp1 HG02809.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+677_803+678ins others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199431 | |||||
| chr16:1199439
|
T | TGCGGTAG others(284): Show |
2 | a0069c0121t0005g0264a0078c0046t0004g0076 | 2 | HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.803+670_803+671ins others(291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199439 | |||||
| chr16:1199452
|
T | C | 101 | a0002c0002t0001g0018a0002c0007t0001g0029a0002c0007t0001g0030others(98): Show | 101 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.803+678T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199452 | ||||||
| chr16:1199468
|
A | ATCATGGC others(41): Show |
3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.803+704_803+705ins others(48): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199468 | |||||
| chr16:1199479
|
A | G | 40 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(37): Show | 40 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.803+705A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199479 | ||||||
| chr16:1199486
|
G | A | 2 | a0023c0029t0001g0183a0023c0029t0001g0194 | 2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.803+712G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199486 | ||||||
| chr16:1199494
|
A | G | 98 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(95): Show | 98 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.803+720A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199494 | ||||||
| chr16:1199495
|
T | C | 98 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(95): Show | 98 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.803+721T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199495 | ||||||
| chr16:1199506
|
T | C | 19 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(16): Show | 19 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.803+732T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199506 | ||||||
| chr16:1199521
|
T | C | 28 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(25): Show | 28 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.804-735T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199521 | ||||||
| chr16:1199523
|
C | G | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.804-733C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199523 | ||||||
| chr16:1199529
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804-727C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199529 | ||||||
| chr16:1199575
|
C | T | 1 | a0001c0070t0001g0092 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.804-681C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199575 | ||||||
| chr16:1199615
|
C | T | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.804-641C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199615 | ||||||
| chr16:1199629
|
C | T | 29 | a0005c0003t0001g0021a0005c0003t0001g0154a0005c0003t0001g0178others(26): Show | 29 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.804-627C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199629 | ||||||
| chr16:1199631
|
G | C | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.804-625G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199631 | ||||||
| chr16:1199634
|
TCTC | T | 4 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(1): Show | 4 | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.804-618_804-616del others(3): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199634 | |||||
| chr16:1199642
|
GCCCTCAC others(16): Show |
G | 2 | a0002c0055t0001g0215a0003c0060t0039g0317 | 2 | HG02486.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.804-600_804-578del others(23): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1199642 | |||||
| chr16:1199668
|
C | G | 34 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(31): Show | 34 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(31): Show |
intron_variant | MODIFIER | c.804-588C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199668 | ||||||
| chr16:1199700
|
C | T | 45 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(42): Show | 45 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(42): Show |
intron_variant | MODIFIER | c.804-556C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199700 | ||||||
| chr16:1199702
|
G | A | 7 | a0001c0001t0001g0177a0019c0033t0005g0254a0019c0033t0005g0260others(4): Show | 8 | HG00642.hp1 HG00735.hp1 HG01069.hp2 others(5): Show |
intron_variant | MODIFIER | c.804-554G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199702 | ||||||
| chr16:1199722
|
C | T | 2 | a0002c0013t0001g0175a0002c0013t0001g0176 | 2 | HG00140.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.804-534C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199722 | ||||||
| chr16:1199749
|
G | A | 1 | a0064c0111t0031g0256 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.804-507G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199749 | ||||||
| chr16:1199767
|
C | T | 1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.804-489C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199767 | ||||||
| chr16:1199774
|
C | T | 3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.804-482C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199774 | ||||||
| chr16:1199783
|
C | T | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0008c0023t0003g0045 | 3 | HG02109.hp2 HG03516.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.804-473C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199783 | ||||||
| chr16:1199790
|
C | T | 2 | a0001c0001t0001g0236a0002c0002t0001g0005 | 2 | HG04115.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.804-466C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199790 | ||||||
| chr16:1199799
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804-457C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199799 | ||||||
| chr16:1199806
|
G | A | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804-450G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199806 | ||||||
| chr16:1199808
|
C | T | 1 | a0003c0015t0017g0271 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.804-448C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199808 | ||||||
| chr16:1199824
|
C | T | 1 | a0047c0082t0003g0072 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.804-432C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199824 | ||||||
| chr16:1199836
|
C | T | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.804-420C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199836 | ||||||
| chr16:1199855
|
G | C | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.804-401G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199855 | ||||||
| chr16:1199877
|
T | G | 14 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0020t0041g0297others(11): Show | 14 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.804-379T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199877 | ||||||
| chr16:1199878
|
T | A | 14 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0020t0041g0297others(11): Show | 14 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.804-378T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199878 | ||||||
| chr16:1199892
|
C | T | 1 | a0001c0070t0001g0092 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.804-364C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199892 | ||||||
| chr16:1199959
|
C | T | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.804-297C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199959 | ||||||
| chr16:1199972
|
TG | T | 14 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0020t0041g0297others(11): Show | 14 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.804-283delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199972 | ||||||
| chr16:1199994
|
T | A | 1 | a0002c0002t0001g0114 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.804-262T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1199994 | ||||||
| chr16:1200058
|
C | T | 5 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(2): Show | 5 | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.804-198C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200058 | ||||||
| chr16:1200080
|
C | G | 1 | a0005c0003t0009g0180 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.804-176C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200080 | ||||||
| chr16:1200096
|
C | G | 19 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(16): Show | 19 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.804-160C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200096 | ||||||
| chr16:1200147
|
CTGATCAC others(11): Show |
C | 33 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(30): Show | 33 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(30): Show |
intron_variant | MODIFIER | c.804-93_804-76delCC others(16): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | 1200147 | |||||
| chr16:1200155
|
G | A | 1 | a0001c0001t0034g0117 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.804-101G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200155 | ||||||
| chr16:1200186
|
A | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804-70A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200186 | ||||||
| chr16:1200206
|
C | T | 5 | a0005c0003t0001g0179a0005c0003t0009g0180a0007c0005t0003g0166others(2): Show | 5 | HG00642.hp2 HG01256.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.804-50C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | chr16 | 1200206 | ||||||
| chr16:1200641
|
C | G | 1 | a0035c0104t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1119+70C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/34 | chr16 | 1200641 | ||||||
| chr16:1200694
|
A | C | 1 | a0001c0092t0009g0306 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1120-22A>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/34 | chr16 | 1200694 | ||||||
| chr16:1200708
|
C | T | 3 | a0008c0009t0007g0163a0008c0009t0007g0171a0008c0009t0008g0253 | 3 | HG01346.hp2 HG03017.hp1 HG03942.hp2 |
splice_region_variant&intron_variant | LOW | c.1120-8C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/34 | chr16 | 1200708 | ||||||
| chr16:1200711
|
C | G | 2 | a0018c0027t0001g0145a0018c0027t0001g0165 | 2 | HG01106.hp2 HG01168.hp1 |
splice_region_variant&intron_variant | LOW | c.1120-5C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 7/34 | chr16 | 1200711 | ||||||
| chr16:1200820
|
C | T | 14 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(11): Show | 14 | HG01884.hp2 HG02258.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.1212+12C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200820 | ||||||
| chr16:1200831
|
G | A | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1212+23G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200831 | ||||||
| chr16:1200862
|
G | A | 1 | a0001c0001t0002g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1212+54G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200862 | ||||||
| chr16:1200868
|
G | T | 2 | a0002c0012t0001g0318a0002c0012t0002g0333 | 2 | HG02818.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1212+60G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200868 | ||||||
| chr16:1200897
|
C | T | 2 | a0020c0021t0004g0147a0020c0021t0004g0235 | 2 | NA18970.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1212+89C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200897 | ||||||
| chr16:1200927
|
C | T | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1212+119C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200927 | ||||||
| chr16:1200931
|
G | A | 1 | a0001c0087t0002g0242 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1212+123G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200931 | ||||||
| chr16:1200991
|
C | T | 3 | a0031c0113t0018g0214a0046c0096t0001g0105a0077c0048t0016g0032 | 3 | HG02886.hp2 HG03471.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1212+183C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1200991 | ||||||
| chr16:1201008
|
C | T | 1 | a0001c0001t0005g0248 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1212+200C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201008 | ||||||
| chr16:1201032
|
G | A | 2 | a0001c0040t0001g0228a0043c0085t0003g0048 | 2 | HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1212+224G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201032 | ||||||
| chr16:1201052
|
C | T | 5 | a0001c0001t0001g0307a0004c0006t0001g0294a0004c0006t0001g0303others(2): Show | 5 | HG02080.hp2 NA18945.hp2 NA18966.hp1 others(2): Show |
intron_variant | MODIFIER | c.1212+244C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201052 | ||||||
| chr16:1201079
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1212+271C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201079 | ||||||
| chr16:1201088
|
C | T | 1 | a0009c0075t0042g0162 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1212+280C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201088 | ||||||
| chr16:1201092
|
C | T | 1 | a0004c0006t0002g0234 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1212+284C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201092 | ||||||
| chr16:1201114
|
C | G | 37 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(34): Show | 37 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.1212+306C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201114 | ||||||
| chr16:1201136
|
C | T | 2 | a0020c0021t0004g0147a0020c0021t0004g0235 | 2 | NA18970.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1212+328C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201136 | ||||||
| chr16:1201171
|
C | T | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1212+363C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201171 | ||||||
| chr16:1201172
|
C | T | 1 | a0001c0001t0002g0238 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1212+364C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201172 | ||||||
| chr16:1201174
|
C | G | 3 | a0069c0121t0005g0264a0070c0122t0003g0326a0078c0046t0004g0076 | 3 | HG02615.hp1 HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1212+366C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201174 | ||||||
| chr16:1201203
|
A | G | 37 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(34): Show | 37 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.1212+395A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201203 | ||||||
| chr16:1201207
|
C | T | 8 | a0002c0055t0001g0215a0002c0063t0001g0287a0003c0060t0039g0317others(5): Show | 8 | HG02486.hp2 HG02572.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1212+399C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201207 | ||||||
| chr16:1201211
|
C | T | 60 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(57): Show | 60 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.1212+403C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201211 | ||||||
| chr16:1201222
|
C | T | 1 | a0010c0024t0002g0334 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1212+414C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201222 | ||||||
| chr16:1201281
|
G | A | 15 | a0005c0003t0002g0173a0011c0020t0006g0061a0011c0020t0012g0335others(12): Show | 15 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.1213-382G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201281 | ||||||
| chr16:1201298
|
C | T | 14 | a0011c0020t0006g0061a0011c0020t0012g0335a0011c0020t0041g0297others(11): Show | 14 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.1213-365C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201298 | ||||||
| chr16:1201453
|
C | T | 1 | a0002c0007t0010g0062 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1213-210C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201453 | ||||||
| chr16:1201480
|
T | G | 19 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(16): Show | 19 | HG00558.hp2 HG01243.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.1213-183T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201480 | ||||||
| chr16:1201500
|
G | T | 1 | a0001c0001t0002g0161 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1213-163G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201500 | ||||||
| chr16:1201528
|
C | T | 1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1213-135C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201528 | ||||||
| chr16:1201562
|
G | A | 95 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(92): Show | 95 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1213-101G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201562 | ||||||
| chr16:1201652
|
C | T | 1 | a0001c0001t0001g0322 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1213-11C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 8/34 | chr16 | 1201652 | ||||||
| chr16:1202473
|
C | G | 1 | a0002c0135t0043g0282 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2002+21C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202473 | ||||||
| chr16:1202517
|
G | T | 2 | a0001c0040t0001g0228a0043c0085t0003g0048 | 2 | HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2002+65G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202517 | ||||||
| chr16:1202519
|
T | C | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2002+67T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202519 | ||||||
| chr16:1202568
|
C | G | 1 | a0002c0012t0002g0333 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2002+116C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202568 | ||||||
| chr16:1202582
|
C | T | 1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2002+130C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202582 | ||||||
| chr16:1202599
|
C | T | 18 | a0009c0116t0006g0188a0011c0020t0006g0061a0011c0020t0012g0335others(15): Show | 18 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(15): Show |
intron_variant | MODIFIER | c.2002+147C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202599 | ||||||
| chr16:1202616
|
G | C | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2002+164G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202616 | ||||||
| chr16:1202648
|
A | T | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2002+196A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202648 | ||||||
| chr16:1202661
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2002+209C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202661 | ||||||
| chr16:1202671
|
A | G | 1 | a0011c0020t0012g0335 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.2002+219A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202671 | ||||||
| chr16:1202737
|
G | C | 48 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(45): Show | 48 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(45): Show |
intron_variant | MODIFIER | c.2002+285G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1202737 | ||||||
| chr16:1203023
|
T | G | 3 | a0031c0113t0018g0214a0046c0096t0001g0105a0077c0048t0016g0032 | 3 | HG02886.hp2 HG03471.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2002+571T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203023 | ||||||
| chr16:1203034
|
C | T | 1 | a0009c0075t0042g0162 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2002+582C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203034 | ||||||
| chr16:1203037
|
G | A | 5 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(2): Show | 5 | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.2002+585G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203037 | ||||||
| chr16:1203060
|
C | T | 3 | a0026c0128t0040g0014a0030c0067t0020g0323a0078c0046t0004g0076 | 3 | HG02451.hp1 HG02615.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2002+608C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203060 | ||||||
| chr16:1203066
|
C | T | 1 | a0001c0001t0002g0094 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2002+614C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203066 | ||||||
| chr16:1203143
|
G | A | 2 | a0026c0128t0040g0014a0078c0046t0004g0076 | 2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.2002+691G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203143 | ||||||
| chr16:1203181
|
G | C | 1 | a0002c0002t0001g0239 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2002+729G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203181 | ||||||
| chr16:1203230
|
G | A | 2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.2002+778G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203230 | ||||||
| chr16:1203330
|
A | G | 2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.2003-680A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203330 | ||||||
| chr16:1203337
|
C | G | 6 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(3): Show | 6 | HG02630.hp1 HG02818.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.2003-673C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203337 | ||||||
| chr16:1203376
|
C | A | 3 | a0003c0068t0004g0290a0058c0069t0033g0049a0070c0122t0003g0326 | 3 | HG02258.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2003-634C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203376 | ||||||
| chr16:1203444
|
A | G | 1 | a0024c0037t0004g0280 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2003-566A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203444 | ||||||
| chr16:1203466
|
G | A | 10 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0153others(7): Show | 10 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.2003-544G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203466 | ||||||
| chr16:1203529
|
T | C | 100 | a0002c0008t0001g0185a0002c0008t0001g0316a0002c0008t0002g0233others(97): Show | 101 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.2003-481T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203529 | ||||||
| chr16:1203703
|
C | G | 51 | a0001c0001t0001g0044a0001c0001t0001g0051a0001c0001t0001g0124others(48): Show | 52 | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.2003-307C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203703 | ||||||
| chr16:1203714
|
C | T | 3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2003-296C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203714 | ||||||
| chr16:1203731
|
C | T | 13 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2003-279C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203731 | ||||||
| chr16:1203739
|
C | G | 2 | a0001c0001t0001g0146a0036c0103t0001g0139 | 2 | NA18979.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.2003-271C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203739 | ||||||
| chr16:1203748
|
G | A | 1 | a0049c0095t0002g0197 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2003-262G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203748 | ||||||
| chr16:1203749
|
C | T | 3 | a0002c0002t0018g0069a0023c0029t0001g0183a0023c0029t0001g0194 | 3 | HG00735.hp1 HG01167.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.2003-261C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203749 | ||||||
| chr16:1203801
|
C | T | 2 | a0026c0128t0040g0014a0078c0046t0004g0076 | 2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.2003-209C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203801 | ||||||
| chr16:1203839
|
G | A | 1 | a0009c0073t0012g0074 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2003-171G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203839 | ||||||
| chr16:1203906
|
T | TG | 10 | a0001c0001t0001g0140a0001c0001t0001g0182a0001c0001t0001g0211others(7): Show | 10 | HG01071.hp1 HG01261.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.2003-97dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr16 | 1203906 | |||||
| chr16:1203907
|
G | T | 47 | a0002c0008t0001g0185a0002c0008t0001g0316a0002c0008t0002g0233others(44): Show | 48 | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.2003-103G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203907 | ||||||
| chr16:1203981
|
C | T | 3 | a0003c0068t0004g0290a0058c0069t0033g0049a0070c0122t0003g0326 | 3 | HG02258.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2003-29C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 9/34 | chr16 | 1203981 | ||||||
| chr16:1204478
|
C | T | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2451+20C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204478 | ||||||
| chr16:1204491
|
C | T | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2451+33C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204491 | ||||||
| chr16:1204546
|
C | G | 1 | a0003c0133t0004g0046 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2451+88C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204546 | ||||||
| chr16:1204563
|
C | A | 1 | a0002c0007t0002g0237 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2451+105C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204563 | ||||||
| chr16:1204563
|
C | T | 19 | a0002c0007t0003g0070a0002c0007t0003g0071a0002c0007t0003g0304others(16): Show | 19 | HG00558.hp2 HG01261.hp2 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.2451+105C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204563 | ||||||
| chr16:1204577
|
T | C | 71 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0007t0002g0237others(68): Show | 71 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(68): Show |
intron_variant | MODIFIER | c.2451+119T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204577 | ||||||
| chr16:1204635
|
G | A | 4 | a0002c0039t0003g0229a0003c0028t0004g0325a0003c0060t0039g0317others(1): Show | 4 | HG02055.hp1 HG02486.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.2451+177G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204635 | ||||||
| chr16:1204675
|
C | G | 5 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(2): Show | 5 | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.2451+217C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204675 | ||||||
| chr16:1204746
|
T | TCCCAGAT others(246): Show |
1 | a0001c0001t0002g0158 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2451+320_2451+321i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(372): Show |
2 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.2451+320_2451+321i others(381): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(246): Show |
34 | a0001c0001t0001g0044a0001c0001t0001g0051a0001c0001t0001g0133others(31): Show | 35 | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(32): Show |
intron_variant | MODIFIER | c.2451+320_2451+321i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(247): Show |
1 | a0014c0018t0011g0151 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2451+320_2451+321i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(246): Show |
14 | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0118others(11): Show | 14 | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.2451+320_2451+321i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(288): Show |
1 | a0001c0001t0015g0134 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2451+320_2451+321i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204746
|
T | TCCCAGAT others(120): Show |
3 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308 | 3 | HG01981.hp2 HG02976.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2451+320_2451+321i others(129): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204746 | |||||
| chr16:1204761
|
G | A | 3 | a0001c0001t0001g0211a0003c0022t0020g0025a0003c0022t0028g0026 | 3 | HG02109.hp2 HG02273.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2451+303G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204761 | ||||||
| chr16:1204765
|
AG | A | 7 | a0002c0008t0001g0316a0002c0008t0002g0233a0002c0008t0019g0031others(4): Show | 7 | HG00639.hp1 HG01891.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.2451+311delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204765 | |||||
| chr16:1204779
|
T | C | 84 | a0001c0001t0001g0044a0001c0001t0001g0051a0001c0001t0001g0052others(81): Show | 85 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(82): Show |
intron_variant | MODIFIER | c.2451+321T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204779 | ||||||
| chr16:1204779
|
T | CGGGTGGG others(247): Show |
1 | a0001c0001t0002g0094 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2451+321delTinsCGG others(252): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204779 | ||||||
| chr16:1204779
|
T | TGGGTGGG others(35): Show |
1 | a0012c0036t0001g0011 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2452-284_2452-243d others(44): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(246): Show |
1 | a0079c0136t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2452-293_2452-292i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(288): Show |
1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2452-243_2452-242i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(246): Show |
1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2452-243_2452-242i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(247): Show |
1 | a0004c0006t0002g0234 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2452-243_2452-242i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(288): Show |
2 | a0001c0040t0001g0228a0043c0085t0003g0048 | 2 | HG03130.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2452-243_2452-242i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(246): Show |
72 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(69): Show | 73 | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.2452-243_2452-242i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(288): Show |
2 | a0001c0001t0014g0293a0001c0001t0014g0299 | 2 | NA18954.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.2452-243_2452-242i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(330): Show |
1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2452-243_2452-242i others(339): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(330): Show |
1 | a0004c0006t0001g0301 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.2452-252_2452-251i others(339): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(246): Show |
1 | a0001c0001t0001g0281 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2452-260_2452-259i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(120): Show |
6 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(3): Show | 6 | HG02630.hp1 HG02818.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.2452-285_2452-284i others(129): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204779
|
T | TGGGTGGG others(290): Show |
1 | a0066c0112t0002g0120 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2452-327_2452-326i others(299): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204779 | |||||
| chr16:1204783
|
T | TGGGGCCC others(204): Show |
2 | a0001c0001t0002g0102a0036c0103t0001g0139 | 2 | NA18944.hp2 NA18979.hp1 |
intron_variant | MODIFIER | c.2452-243_2452-242i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204783 | |||||
| chr16:1204783
|
T | TGGGGCCC others(246): Show |
1 | a0039c0099t0006g0054 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2452-243_2452-242i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204783 | |||||
| chr16:1204783
|
T | TGGGGCCC others(204): Show |
8 | a0001c0001t0002g0055a0001c0001t0002g0066a0001c0001t0002g0068others(5): Show | 8 | HG02886.hp2 HG03471.hp2 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.2452-243_2452-242i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204783 | |||||
| chr16:1204791
|
C | T | 29 | a0003c0022t0020g0025a0003c0022t0028g0026a0005c0003t0001g0021others(26): Show | 30 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.2452-323C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204791 | ||||||
| chr16:1204821
|
C | CGGGTGGG others(247): Show |
1 | a0024c0037t0004g0056 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2452-243_2452-242i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204821 | |||||
| chr16:1204821
|
C | CGGGTGGG others(247): Show |
1 | a0013c0030t0006g0010 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2452-243_2452-242i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204821 | |||||
| chr16:1204821
|
C | CGGGTGGG others(247): Show |
1 | a0024c0037t0004g0280 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2452-243_2452-242i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204821 | |||||
| chr16:1204821
|
C | CGGGTGGG others(246): Show |
14 | a0009c0116t0006g0188a0011c0020t0006g0061a0011c0020t0012g0335others(11): Show | 14 | HG00639.hp2 HG00733.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.2452-243_2452-242i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204821 | |||||
| chr16:1204821
|
C | CGGGTGGG others(204): Show |
1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2452-243_2452-242i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204821 | |||||
| chr16:1204821
|
C | T | 28 | a0003c0022t0020g0025a0003c0022t0028g0026a0005c0003t0001g0021others(25): Show | 29 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.2452-293C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204821 | ||||||
| chr16:1204830
|
C | G | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2452-284C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204830 | ||||||
| chr16:1204833
|
C | T | 29 | a0003c0022t0020g0025a0003c0022t0028g0026a0005c0003t0001g0021others(26): Show | 30 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.2452-281C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204833 | ||||||
| chr16:1204863
|
C | T | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2452-251C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204863 | ||||||
| chr16:1204872
|
G | C | 230 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(227): Show | 233 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(230): Show |
intron_variant | MODIFIER | c.2452-242G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204872 | ||||||
| chr16:1204872
|
G | GCCCAGAT others(457): Show |
2 | a0074c0120t0037g0067a0075c0119t0001g0313 | 2 | HG01175.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.2452-201_2452-200i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204872 | |||||
| chr16:1204872
|
G | GCCCAGAT others(288): Show |
2 | a0038c0101t0008g0261a0047c0082t0003g0072 | 2 | HG01074.hp2 HG01099.hp1 |
intron_variant | MODIFIER | c.2452-201_2452-200i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204872 | |||||
| chr16:1204872
|
G | GCCCAGAT others(288): Show |
6 | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2452-201_2452-200i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204872 | |||||
| chr16:1204872
|
G | GCCCAGAT others(246): Show |
2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.2452-201_2452-200i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204872 | |||||
| chr16:1204872
|
G | GCCCAGAT others(246): Show |
1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2452-201_2452-200i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204872 | |||||
| chr16:1204875
|
C | CAGATCAG others(204): Show |
1 | a0002c0011t0002g0203 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2452-211_2452-210i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204875 | |||||
| chr16:1204875
|
C | CAGATCAG others(204): Show |
11 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(8): Show | 11 | HG01884.hp2 HG02809.hp2 HG02965.hp1 others(8): Show |
intron_variant | MODIFIER | c.2452-201_2452-200i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204875 | |||||
| chr16:1204875
|
C | T | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2452-239C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204875 | ||||||
| chr16:1204881
|
A | AGTGCCGG others(246): Show |
1 | a0001c0001t0002g0138 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.2452-201_2452-200i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204881 | |||||
| chr16:1204889
|
G | GGAGGGGT others(667): Show |
1 | a0002c0002t0001g0018 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2452-159_2452-158i others(676): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204889 | |||||
| chr16:1204914
|
C | A | 1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2452-200C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204914 | ||||||
| chr16:1204914
|
C | CCCCAGAT others(457): Show |
1 | a0018c0027t0001g0165 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2452-159_2452-158i others(466): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204914 | |||||
| chr16:1204914
|
C | CCCCAGAT others(456): Show |
1 | a0018c0027t0001g0145 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2452-159_2452-158i others(465): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204914 | |||||
| chr16:1204914
|
C | G | 51 | a0001c0001t0002g0127a0002c0002t0001g0114a0002c0007t0001g0029others(48): Show | 52 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(49): Show |
intron_variant | MODIFIER | c.2452-200C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204914 | ||||||
| chr16:1204918
|
AGATCAGT others(35): Show |
A | 1 | a0042c0083t0003g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2452-158_2452-117d others(44): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204918 | |||||
| chr16:1204931
|
GGAGGGGT others(120): Show |
G | 28 | a0003c0022t0020g0025a0003c0022t0028g0026a0005c0003t0001g0021others(25): Show | 29 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.2452-161_2452-35de others(1): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204931 | |||||
| chr16:1204952
|
G | GGGGCCCC others(34): Show |
1 | a0045c0089t0005g0262 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2452-159_2452-158i others(43): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(244): Show |
5 | a0002c0013t0001g0170a0002c0013t0001g0175a0002c0013t0001g0176others(2): Show | 5 | HG00099.hp2 HG00140.hp2 HG01109.hp1 others(2): Show |
intron_variant | MODIFIER | c.2452-159_2452-158i others(253): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(371): Show |
1 | a0009c0075t0042g0162 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2452-159_2452-158i others(380): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(413): Show |
1 | a0002c0002t0001g0017 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2452-159_2452-158i others(422): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(413): Show |
32 | a0002c0002t0001g0005a0002c0002t0001g0007a0002c0002t0001g0008others(29): Show | 32 | HG00280.hp2 HG00738.hp1 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.2452-159_2452-158i others(422): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(455): Show |
1 | a0003c0060t0039g0317 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2452-159_2452-158i others(464): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(455): Show |
3 | a0002c0002t0026g0241a0009c0016t0006g0167a0009c0073t0012g0074 | 3 | HG03453.hp1 HG03688.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.2452-159_2452-158i others(464): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(413): Show |
2 | a0023c0029t0001g0183a0023c0029t0001g0194 | 2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.2452-159_2452-158i others(422): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(455): Show |
4 | a0002c0002t0001g0209a0002c0002t0001g0284a0002c0002t0002g0086others(1): Show | 4 | HG02055.hp2 HG02257.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.2452-159_2452-158i others(464): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(539): Show |
2 | a0002c0002t0001g0110a0002c0002t0002g0085 | 2 | HG02922.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2452-159_2452-158i others(548): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204952
|
G | GGGGCCCC others(456): Show |
1 | a0008c0009t0003g0174 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2452-159_2452-158i others(465): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204952 | |||||
| chr16:1204956
|
G | A | 6 | a0018c0027t0001g0145a0018c0027t0001g0165a0038c0101t0008g0261others(3): Show | 6 | HG01074.hp2 HG01099.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.2452-158G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204956 | ||||||
| chr16:1204956
|
G | C | 158 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(155): Show | 160 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(157): Show |
intron_variant | MODIFIER | c.2452-158G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204956 | ||||||
| chr16:1204956
|
G | GCCCAGAT others(288): Show |
1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2452-155_2452-154i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204956 | |||||
| chr16:1204956
|
G | GCCCAGAT others(247): Show |
1 | a0035c0104t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2452-155_2452-154i others(256): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204956 | |||||
| chr16:1204956
|
G | GCCCAGAT others(289): Show |
1 | a0013c0084t0006g0168 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2452-155_2452-154i others(298): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204956 | |||||
| chr16:1204956
|
GCCCCGAT others(78): Show |
G | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2452-154_2452-70de others(86): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204956 | |||||
| chr16:1204960
|
C | A | 210 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(207): Show | 212 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(209): Show |
intron_variant | MODIFIER | c.2452-154C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CA | 54 | a0002c0002t0001g0005a0002c0002t0001g0007a0002c0002t0001g0008others(51): Show | 54 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(51): Show |
intron_variant | MODIFIER | c.2452-154_2452-153i others(3): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CAGATCAG others(246): Show |
17 | a0002c0002t0001g0114a0002c0007t0001g0029a0002c0007t0001g0030others(14): Show | 17 | HG00280.hp1 HG00558.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.2452-154_2452-153i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CAGATCAG others(204): Show |
1 | a0040c0100t0007g0111 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.2452-154_2452-153i others(213): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CAGATCAG others(288): Show |
2 | a0002c0010t0002g0205a0002c0010t0005g0270 | 2 | NA18951.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.2452-154_2452-153i others(297): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CAGATCAG others(289): Show |
2 | a0002c0057t0002g0100a0003c0015t0017g0271 | 2 | HG01261.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.2452-154_2452-153i others(298): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204960 | ||||||
| chr16:1204960
|
C | CGATCAGT others(246): Show |
3 | a0003c0068t0004g0290a0058c0069t0033g0049a0070c0122t0003g0326 | 3 | HG02258.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2452-117_2452-116i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204960 | |||||
| chr16:1204960
|
C | CGATCAGT others(330): Show |
1 | a0011c0020t0041g0297 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.2452-117_2452-116i others(339): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204960 | |||||
| chr16:1204960
|
C | CGATCAGT others(372): Show |
10 | a0002c0008t0001g0185a0002c0008t0001g0316a0002c0008t0002g0233others(7): Show | 10 | HG00639.hp1 HG00733.hp1 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.2452-117_2452-116i others(381): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204960 | |||||
| chr16:1204960
|
C | CGATCAGT others(414): Show |
2 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2452-117_2452-116i others(423): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204960 | |||||
| chr16:1204960
|
C | CGATCAGT others(498): Show |
2 | a0002c0008t0019g0031a0002c0008t0019g0221 | 2 | HG01891.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.2452-117_2452-116i others(507): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204960 | |||||
| chr16:1204977
|
G | GGGTGGGA others(246): Show |
1 | a0001c0001t0002g0127 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2452-117_2452-116i others(255): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1204977 | |||||
| chr16:1204998
|
C | A | 4 | a0038c0101t0008g0261a0047c0082t0003g0072a0074c0120t0037g0067others(1): Show | 4 | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.2452-116C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1204998 | ||||||
| chr16:1205030
|
A | G | 175 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(172): Show | 177 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(174): Show |
intron_variant | MODIFIER | c.2452-84A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1205030 | ||||||
| chr16:1205036
|
G | GGGGCCCC others(202): Show |
1 | a0002c0007t0002g0237 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2452-75_2452-74ins others(209): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | 1205036 | |||||
| chr16:1205058
|
T | G | 6 | a0002c0007t0002g0237a0006c0004t0004g0187a0008c0023t0003g0129others(3): Show | 6 | HG02723.hp1 HG04199.hp2 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.2452-56T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1205058 | ||||||
| chr16:1205073
|
G | A | 2 | a0002c0007t0002g0237a0003c0060t0039g0317 | 2 | HG02486.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.2452-41G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1205073 | ||||||
| chr16:1205083
|
C | T | 4 | a0038c0101t0008g0261a0047c0082t0003g0072a0074c0120t0037g0067others(1): Show | 4 | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.2452-31C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1205083 | ||||||
| chr16:1205106
|
G | T | 1 | a0071c0124t0003g0103 | 1 | HG01081.hp1 | splice_region_variant&intron_variant | LOW | c.2452-8G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | chr16 | 1205106 | ||||||
| chr16:1205277
|
C | T | 23 | a0003c0068t0004g0290a0009c0116t0006g0188a0011c0020t0006g0061others(20): Show | 23 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(20): Show |
intron_variant | MODIFIER | c.2603+12C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205277 | ||||||
| chr16:1205300
|
C | T | 5 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(2): Show | 5 | HG02630.hp1 HG02818.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.2603+35C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205300 | ||||||
| chr16:1205381
|
A | G | 1 | a0032c0071t0001g0310 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2603+116A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205381 | ||||||
| chr16:1205390
|
C | T | 20 | a0009c0116t0006g0188a0011c0020t0006g0061a0011c0020t0012g0335others(17): Show | 20 | HG00323.hp2 HG00639.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.2603+125C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205390 | ||||||
| chr16:1205545
|
T | C | 78 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(75): Show | 79 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.2603+280T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205545 | ||||||
| chr16:1205598
|
C | G | 5 | a0001c0001t0001g0052a0001c0001t0001g0193a0001c0001t0001g0292others(2): Show | 5 | HG00408.hp2 HG00544.hp1 HG02135.hp2 others(2): Show |
intron_variant | MODIFIER | c.2603+333C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205598 | ||||||
| chr16:1205695
|
C | T | 19 | a0002c0011t0001g0225a0002c0011t0001g0289a0002c0011t0002g0201others(16): Show | 19 | HG01884.hp2 HG02572.hp2 HG02647.hp1 others(16): Show |
intron_variant | MODIFIER | c.2604-409C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205695 | ||||||
| chr16:1205832
|
C | T | 30 | a0001c0001t0002g0156a0003c0022t0020g0025a0003c0022t0028g0026others(27): Show | 31 | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.2604-272C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205832 | ||||||
| chr16:1205885
|
A | G | 89 | a0001c0001t0002g0156a0002c0002t0001g0008a0002c0008t0001g0185others(86): Show | 90 | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(87): Show |
intron_variant | MODIFIER | c.2604-219A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205885 | ||||||
| chr16:1205894
|
C | T | 3 | a0002c0002t0001g0018a0054c0074t0001g0283a0061c0080t0001g0227 | 3 | HG01884.hp1 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2604-210C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205894 | ||||||
| chr16:1205905
|
C | T | 1 | a0015c0017t0003g0119 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2604-199C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205905 | ||||||
| chr16:1205928
|
C | G | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2604-176C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205928 | ||||||
| chr16:1205936
|
G | A | 1 | a0001c0001t0001g0051 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2604-168G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205936 | ||||||
| chr16:1205975
|
C | T | 1 | a0001c0087t0002g0242 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2604-129C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1205975 | ||||||
| chr16:1206016
|
C | A | 3 | a0038c0101t0008g0261a0047c0082t0003g0072a0075c0119t0001g0313 | 3 | HG01074.hp2 HG01099.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.2604-88C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1206016 | ||||||
| chr16:1206085
|
C | T | 13 | a0009c0116t0006g0188a0011c0020t0006g0061a0011c0020t0012g0335others(10): Show | 13 | HG00323.hp2 HG00733.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.2604-19C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1206085 | ||||||
| chr16:1206099
|
C | T | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | splice_region_variant&intron_variant | LOW | c.2604-5C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 11/34 | chr16 | 1206099 | ||||||
| chr16:1206315
|
G | A | 1 | a0002c0010t0001g0019 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2789+26G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206315 | ||||||
| chr16:1206447
|
C | T | 1 | a0004c0019t0001g0222 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2789+158C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206447 | ||||||
| chr16:1206472
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2789+183C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206472 | ||||||
| chr16:1206512
|
A | G | 2 | a0016c0026t0003g0109a0016c0026t0008g0279 | 2 | HG01981.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2789+223A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206512 | ||||||
| chr16:1206572
|
C | T | 3 | a0001c0001t0005g0249a0004c0006t0001g0301a0004c0006t0002g0096 | 3 | HG02155.hp1 NA18954.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.2789+283C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206572 | ||||||
| chr16:1206620
|
G | A | 1 | a0001c0070t0001g0092 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2789+331G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206620 | ||||||
| chr16:1206643
|
G | A | 5 | a0038c0101t0008g0261a0047c0082t0003g0072a0055c0110t0001g0006others(2): Show | 5 | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.2789+354G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206643 | ||||||
| chr16:1206675
|
C | T | 6 | a0008c0056t0038g0224a0017c0064t0032g0276a0017c0066t0025g0232others(3): Show | 6 | HG02280.hp2 HG02615.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2790-326C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206675 | ||||||
| chr16:1206825
|
A | G | 1 | a0013c0030t0013g0251 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2790-176A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206825 | ||||||
| chr16:1206839
|
T | C | 22 | a0002c0011t0001g0289a0003c0022t0020g0025a0003c0022t0028g0026others(19): Show | 23 | HG00735.hp2 HG00738.hp2 HG01256.hp1 others(20): Show |
intron_variant | MODIFIER | c.2790-162T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206839 | ||||||
| chr16:1206902
|
C | G | 6 | a0012c0036t0001g0035a0038c0101t0008g0261a0047c0082t0003g0072others(3): Show | 6 | HG00639.hp2 HG01074.hp2 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.2790-99C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 12/34 | chr16 | 1206902 | ||||||
| chr16:1207175
|
T | A | 2 | a0002c0010t0001g0019a0046c0096t0001g0105 | 2 | HG02630.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2907+57T>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 13/34 | chr16 | 1207175 | ||||||
| chr16:1207208
|
C | T | 1 | a0002c0002t0002g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2908-67C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 13/34 | chr16 | 1207208 | ||||||
| chr16:1207234
|
GGGGCT | G | 6 | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2908-37_2908-33del others(5): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr16 | 1207234 | |||||
| chr16:1207467
|
C | T | 2 | a0020c0021t0004g0147a0020c0021t0004g0235 | 2 | NA18970.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.3063+37C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207467 | ||||||
| chr16:1207591
|
G | A | 1 | a0005c0003t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3063+161G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207591 | ||||||
| chr16:1207634
|
C | T | 30 | a0001c0001t0001g0131a0001c0001t0001g0132a0002c0002t0001g0110others(27): Show | 30 | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(27): Show |
intron_variant | MODIFIER | c.3064-136C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207634 | ||||||
| chr16:1207642
|
C | A | 1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3064-128C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207642 | ||||||
| chr16:1207698
|
G | A | 5 | a0002c0011t0001g0225a0002c0025t0001g0223a0002c0025t0001g0226others(2): Show | 5 | HG01884.hp2 HG02970.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.3064-72G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207698 | ||||||
| chr16:1207704
|
T | G | 2 | a0017c0066t0025g0232a0029c0065t0007g0202 | 2 | HG02280.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.3064-66T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207704 | ||||||
| chr16:1207722
|
C | T | 4 | a0016c0026t0003g0109a0016c0026t0008g0279a0016c0134t0003g0308others(1): Show | 4 | HG01981.hp2 HG02976.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3064-48C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207722 | ||||||
| chr16:1207730
|
C | T | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3064-40C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207730 | ||||||
| chr16:1207731
|
G | A | 302 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(299): Show | 304 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
intron_variant | MODIFIER | c.3064-39G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 14/34 | chr16 | 1207731 | ||||||
| chr16:1207884
|
C | T | 1 | a0068c0118t0010g0128 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3154+24C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/34 | chr16 | 1207884 | ||||||
| chr16:1207899
|
G | A | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3154+39G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/34 | chr16 | 1207899 | ||||||
| chr16:1207940
|
T | C | 43 | a0002c0007t0001g0029a0002c0007t0001g0030a0002c0008t0001g0144others(40): Show | 43 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(40): Show |
intron_variant | MODIFIER | c.3155-73T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/34 | chr16 | 1207940 | ||||||
| chr16:1207945
|
A | G | 1 | a0008c0056t0038g0224 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3155-68A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/34 | chr16 | 1207945 | ||||||
| chr16:1208008
|
C | T | 1 | a0041c0098t0004g0033 | 1 | NA19004.hp1 | splice_region_variant&intron_variant | LOW | c.3155-5C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 15/34 | chr16 | 1208008 | ||||||
| chr16:1208312
|
G | A | 23 | a0001c0001t0001g0292a0001c0001t0035g0078a0002c0012t0001g0318others(20): Show | 24 | HG00408.hp1 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.3363+91G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208312 | ||||||
| chr16:1208475
|
C | T | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3363+254C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208475 | ||||||
| chr16:1208537
|
G | A | 7 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220others(4): Show | 7 | HG01884.hp2 HG02145.hp2 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.3363+316G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208537 | ||||||
| chr16:1208553
|
C | G | 1 | a0035c0104t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3363+332C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208553 | ||||||
| chr16:1208754
|
G | A | 1 | a0002c0007t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3364-278G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208754 | ||||||
| chr16:1208836
|
G | A | 3 | a0006c0004t0004g0003a0006c0004t0004g0285a0006c0004t0004g0286 | 4 | HG01167.hp1 HG01169.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.3364-196G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208836 | ||||||
| chr16:1208898
|
C | T | 2 | a0001c0001t0001g0040a0001c0001t0001g0041 | 2 | NA18967.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.3364-134C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208898 | ||||||
| chr16:1208928
|
A | G | 5 | a0002c0055t0001g0215a0016c0026t0003g0109a0016c0026t0008g0279others(2): Show | 5 | HG01981.hp2 HG02970.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.3364-104A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208928 | ||||||
| chr16:1208969
|
G | A | 2 | a0002c0002t0001g0042a0003c0028t0004g0028 | 2 | HG02109.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.3364-63G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208969 | ||||||
| chr16:1208980
|
G | A | 2 | a0018c0027t0001g0145a0018c0027t0001g0165 | 2 | HG01106.hp2 HG01168.hp1 |
intron_variant | MODIFIER | c.3364-52G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208980 | ||||||
| chr16:1208986
|
T | G | 1 | a0007c0005t0008g0257 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3364-46T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208986 | ||||||
| chr16:1208990
|
A | G | 1 | a0002c0008t0019g0031 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3364-42A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1208990 | ||||||
| chr16:1209029
|
C | T | 3 | a0043c0085t0003g0048a0058c0069t0033g0049a0070c0122t0003g0326 | 3 | HG02258.hp1 HG03130.hp1 HG03471.hp1 |
splice_region_variant&intron_variant | LOW | c.3364-3C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 16/34 | chr16 | 1209029 | ||||||
| chr16:1209429
|
G | A | 2 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.3744+17G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209429 | ||||||
| chr16:1209456
|
G | C | 18 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(15): Show | 18 | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(15): Show |
intron_variant | MODIFIER | c.3744+44G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209456 | ||||||
| chr16:1209501
|
G | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3744+89G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209501 | ||||||
| chr16:1209504
|
T | C | 3 | a0003c0022t0020g0025a0003c0022t0028g0026a0030c0067t0020g0323 | 3 | HG02109.hp2 HG03516.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3744+92T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209504 | ||||||
| chr16:1209602
|
C | A | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3744+190C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209602 | ||||||
| chr16:1209662
|
G | A | 4 | a0003c0028t0004g0028a0003c0068t0004g0290a0003c0132t0030g0278others(1): Show | 4 | HG02717.hp1 HG03579.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.3744+250G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209662 | ||||||
| chr16:1209710
|
G | A | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3744+298G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209710 | ||||||
| chr16:1209722
|
C | T | 2 | a0019c0033t0005g0254a0019c0033t0005g0260 | 2 | HG00642.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.3744+310C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209722 | ||||||
| chr16:1209727
|
G | A | 173 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(170): Show | 173 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.3745-308G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209727 | ||||||
| chr16:1209746
|
G | A | 70 | a0001c0001t0001g0051a0001c0001t0001g0231a0001c0001t0005g0275others(67): Show | 71 | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.3745-289G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209746 | ||||||
| chr16:1209840
|
G | A | 1 | a0046c0096t0001g0105 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3745-195G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209840 | ||||||
| chr16:1209923
|
G | A | 4 | a0043c0085t0003g0048a0058c0069t0033g0049a0065c0042t0003g0230others(1): Show | 4 | HG02258.hp1 HG02717.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.3745-112G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1209923 | ||||||
| chr16:1210021
|
G | T | 309 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(306): Show | 311 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
intron_variant | MODIFIER | c.3745-14G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 17/34 | chr16 | 1210021 | ||||||
| chr16:1210146
|
C | T | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3845+11C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210146 | ||||||
| chr16:1210218
|
G | C | 2 | a0009c0073t0012g0074a0009c0075t0042g0162 | 2 | HG03688.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3845+83G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210218 | ||||||
| chr16:1210236
|
C | A | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3845+101C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210236 | ||||||
| chr16:1210268
|
C | T | 1 | a0001c0001t0002g0238 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.3846-102C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210268 | ||||||
| chr16:1210277
|
A | G | 8 | a0002c0063t0001g0287a0008c0056t0038g0224a0010c0024t0001g0300others(5): Show | 8 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.3846-93A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210277 | ||||||
| chr16:1210289
|
G | T | 2 | a0008c0056t0038g0224a0017c0064t0032g0276 | 2 | HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.3846-81G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210289 | ||||||
| chr16:1210307
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3846-63C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210307 | ||||||
| chr16:1210332
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3846-38C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 18/34 | chr16 | 1210332 | ||||||
| chr16:1210528
|
C | T | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.3969+35C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/34 | chr16 | 1210528 | ||||||
| chr16:1210561
|
C | T | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3970-22C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/34 | chr16 | 1210561 | ||||||
| chr16:1210577
|
C | T | 1 | a0002c0008t0002g0233 | 1 | HG00639.hp1 | splice_region_variant&intron_variant | LOW | c.3970-6C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/34 | chr16 | 1210577 | ||||||
| chr16:1210578
|
G | A | 2 | a0008c0056t0038g0224a0032c0071t0001g0310 | 2 | HG01175.hp1 HG03209.hp1 |
splice_region_variant&intron_variant | LOW | c.3970-5G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 19/34 | chr16 | 1210578 | ||||||
| chr16:1210692
|
C | T | 4 | a0001c0001t0001g0133a0001c0001t0001g0150a0001c0001t0002g0138others(1): Show | 4 | HG01256.hp1 HG01928.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.4038+41C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 20/34 | chr16 | 1210692 | ||||||
| chr16:1210767
|
G | A | 214 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(211): Show | 215 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(212): Show |
intron_variant | MODIFIER | c.4039-20G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 20/34 | chr16 | 1210767 | ||||||
| chr16:1211024
|
C | T | 236 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(233): Show | 237 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.4223+53C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211024 | ||||||
| chr16:1211026
|
C | G | 1 | a0001c0001t0001g0198 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.4223+55C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211026 | ||||||
| chr16:1211045
|
C | T | 1 | a0003c0028t0004g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4223+74C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211045 | ||||||
| chr16:1211063
|
C | T | 1 | a0025c0047t0005g0247 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.4223+92C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211063 | ||||||
| chr16:1211086
|
C | A | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.4224-82C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211086 | ||||||
| chr16:1211119
|
G | A | 239 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(236): Show | 240 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.4224-49G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211119 | ||||||
| chr16:1211162
|
C | T | 6 | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.4224-6C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 21/34 | chr16 | 1211162 | ||||||
| chr16:1211329
|
G | A | 12 | a0001c0001t0015g0134a0002c0057t0002g0100a0003c0015t0011g0015others(9): Show | 12 | HG01261.hp2 HG02055.hp1 HG02083.hp1 others(9): Show |
intron_variant | MODIFIER | c.4350+35G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/34 | chr16 | 1211329 | ||||||
| chr16:1211341
|
G | T | 1 | a0009c0016t0013g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4350+47G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/34 | chr16 | 1211341 | ||||||
| chr16:1211371
|
G | A | 1 | a0008c0023t0003g0129 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4350+77G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/34 | chr16 | 1211371 | ||||||
| chr16:1211377
|
G | A | 244 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(241): Show | 245 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.4350+83G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 22/34 | chr16 | 1211377 | ||||||
| chr16:1211636
|
G | T | 12 | a0002c0039t0003g0229a0003c0028t0004g0028a0003c0068t0004g0290others(9): Show | 12 | HG02258.hp1 HG02280.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.4476+30G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 23/34 | chr16 | 1211636 | ||||||
| chr16:1211657
|
C | G | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4476+51C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 23/34 | chr16 | 1211657 | ||||||
| chr16:1211850
|
G | A | 2 | a0008c0056t0038g0224a0017c0064t0032g0276 | 2 | HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4566+45G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 24/34 | chr16 | 1211850 | ||||||
| chr16:1211878
|
G | A | 1 | a0001c0001t0002g0196 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.4567-68G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 24/34 | chr16 | 1211878 | ||||||
| chr16:1211921
|
G | T | 1 | a0070c0122t0003g0326 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4567-25G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 24/34 | chr16 | 1211921 | ||||||
| chr16:1211932
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4567-14C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 24/34 | chr16 | 1211932 | ||||||
| chr16:1212231
|
G | A | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4759+93G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212231 | ||||||
| chr16:1212310
|
C | A | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.4759+172C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212310 | ||||||
| chr16:1212344
|
C | A | 3 | a0015c0017t0003g0107a0015c0017t0003g0108a0015c0017t0003g0119 | 3 | HG02451.hp2 HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4760-167C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212344 | ||||||
| chr16:1212372
|
G | T | 1 | a0011c0129t0012g0122 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.4760-139G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212372 | ||||||
| chr16:1212401
|
C | T | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4760-110C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212401 | ||||||
| chr16:1212433
|
G | A | 1 | a0010c0024t0002g0334 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4760-78G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 25/34 | chr16 | 1212433 | ||||||
| chr16:1212580
|
G | A | 1 | a0005c0003t0001g0021 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4777+52G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212580 | ||||||
| chr16:1212710
|
A | G | 6 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(3): Show | 6 | HG01891.hp1 HG02630.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.4777+182A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212710 | ||||||
| chr16:1212752
|
G | A | 1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4777+224G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212752 | ||||||
| chr16:1212762
|
G | A | 1 | a0028c0049t0004g0321 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4777+234G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212762 | ||||||
| chr16:1212779
|
G | A | 1 | a0005c0003t0002g0173 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4777+251G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212779 | ||||||
| chr16:1212847
|
G | A | 1 | a0003c0028t0004g0325 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.4777+319G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212847 | ||||||
| chr16:1212855
|
T | C | 311 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(308): Show | 313 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(310): Show |
intron_variant | MODIFIER | c.4777+327T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212855 | ||||||
| chr16:1212858
|
C | G | 8 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0177others(5): Show | 8 | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.4777+330C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212858 | ||||||
| chr16:1212867
|
C | T | 1 | a0002c0013t0001g0170 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.4777+339C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212867 | ||||||
| chr16:1212873
|
G | T | 51 | a0001c0001t0001g0044a0001c0001t0001g0131a0001c0001t0001g0132others(48): Show | 51 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(48): Show |
intron_variant | MODIFIER | c.4777+345G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212873 | ||||||
| chr16:1212957
|
C | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4777+429C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1212957 | ||||||
| chr16:1213004
|
G | A | 19 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(16): Show | 19 | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.4777+476G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213004 | ||||||
| chr16:1213023
|
G | A | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4777+495G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213023 | ||||||
| chr16:1213042
|
C | A | 5 | a0001c0001t0014g0293a0001c0001t0014g0299a0001c0001t0015g0116others(2): Show | 5 | HG02148.hp2 NA18954.hp1 NA18969.hp2 others(2): Show |
intron_variant | MODIFIER | c.4777+514C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213042 | ||||||
| chr16:1213042
|
C | T | 213 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(210): Show | 214 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(211): Show |
intron_variant | MODIFIER | c.4777+514C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213042 | ||||||
| chr16:1213048
|
C | T | 3 | a0002c0039t0003g0229a0029c0065t0007g0202a0065c0042t0003g0230 | 3 | HG02280.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4777+520C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213048 | ||||||
| chr16:1213181
|
G | T | 1 | a0006c0004t0017g0263 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4778-599G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213181 | ||||||
| chr16:1213196
|
T | C | 19 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(16): Show | 19 | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.4778-584T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213196 | ||||||
| chr16:1213223
|
A | G | 2 | a0003c0015t0017g0271a0006c0004t0004g0187 | 2 | HG01261.hp2 NA18943.hp1 |
intron_variant | MODIFIER | c.4778-557A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213223 | ||||||
| chr16:1213236
|
G | A | 3 | a0001c0032t0021g0265a0001c0032t0021g0266a0001c0041t0001g0220 | 3 | HG02145.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4778-544G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213236 | ||||||
| chr16:1213310
|
G | C | 1 | a0008c0009t0007g0171 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4778-470G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213310 | ||||||
| chr16:1213360
|
G | A | 1 | a0010c0131t0002g0331 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4778-420G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213360 | ||||||
| chr16:1213404
|
G | T | 1 | a0065c0042t0003g0230 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4778-376G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213404 | ||||||
| chr16:1213435
|
A | G | 2 | a0001c0001t0001g0051a0001c0001t0005g0275 | 2 | HG00438.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.4778-345A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213435 | ||||||
| chr16:1213469
|
A | G | 333 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(330): Show | 336 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(333): Show |
intron_variant | MODIFIER | c.4778-311A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213469 | ||||||
| chr16:1213505
|
G | T | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.4778-275G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213505 | ||||||
| chr16:1213510
|
G | A | 218 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(215): Show | 219 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(216): Show |
intron_variant | MODIFIER | c.4778-270G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213510 | ||||||
| chr16:1213532
|
C | T | 1 | a0034c0105t0007g0058 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.4778-248C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213532 | ||||||
| chr16:1213610
|
C | T | 2 | a0001c0001t0001g0124a0001c0001t0002g0121 | 2 | HG02071.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.4778-170C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213610 | ||||||
| chr16:1213618
|
T | C | 25 | a0001c0001t0014g0293a0003c0015t0004g0060a0003c0015t0011g0015others(22): Show | 26 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.4778-162T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213618 | ||||||
| chr16:1213662
|
G | T | 1 | a0002c0008t0005g0252 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.4778-118G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213662 | ||||||
| chr16:1213756
|
C | T | 1 | a0003c0068t0004g0290 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4778-24C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213756 | ||||||
| chr16:1213775
|
C | T | 1 | a0071c0124t0003g0103 | 1 | HG01081.hp1 | splice_region_variant&intron_variant | LOW | c.4778-5C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 26/34 | chr16 | 1213775 | ||||||
| chr16:1213939
|
C | T | 4 | a0001c0001t0001g0296a0001c0001t0002g0066a0001c0001t0005g0249others(1): Show | 4 | HG02040.hp1 HG02155.hp1 NA18990.hp2 others(1): Show |
splice_region_variant&intron_variant | LOW | c.4929+8C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1213939 | ||||||
| chr16:1214009
|
T | C | 19 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(16): Show | 20 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.4929+78T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214009 | ||||||
| chr16:1214033
|
C | T | 1 | a0002c0011t0001g0289 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4929+102C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214033 | ||||||
| chr16:1214122
|
C | T | 1 | a0002c0002t0001g0114 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.4929+191C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214122 | ||||||
| chr16:1214137
|
C | CGTGAGTG others(27): Show |
2 | a0008c0056t0038g0224a0017c0064t0032g0276 | 2 | HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4929+236_4929+269d others(36): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr16 | 1214137 | |||||
| chr16:1214138
|
G | A | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4929+207G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214138 | ||||||
| chr16:1214140
|
G | C | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4929+209G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214140 | ||||||
| chr16:1214161
|
G | A | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4929+230G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214161 | ||||||
| chr16:1214177
|
T | G | 1 | a0009c0073t0012g0074 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.4929+246T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214177 | ||||||
| chr16:1214276
|
C | T | 6 | a0002c0012t0001g0318a0002c0012t0002g0050a0002c0012t0002g0332others(3): Show | 6 | HG01891.hp1 HG02630.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.4929+345C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214276 | ||||||
| chr16:1214286
|
C | G | 1 | a0002c0011t0002g0201 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4929+355C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214286 | ||||||
| chr16:1214287
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4929+356C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214287 | ||||||
| chr16:1214302
|
C | T | 309 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(306): Show | 311 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
intron_variant | MODIFIER | c.4929+371C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214302 | ||||||
| chr16:1214313
|
C | T | 6 | a0002c0002t0018g0069a0002c0035t0001g0172a0002c0035t0001g0288others(3): Show | 6 | HG00735.hp1 HG01167.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.4929+382C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214313 | ||||||
| chr16:1214316
|
C | T | 2 | a0008c0059t0003g0020a0026c0128t0040g0014 | 2 | HG02451.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4929+385C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214316 | ||||||
| chr16:1214452
|
G | A | 1 | a0006c0004t0004g0003 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.4930-520G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214452 | ||||||
| chr16:1214483
|
G | A | 23 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(20): Show | 24 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.4930-489G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214483 | ||||||
| chr16:1214580
|
G | GCCCATGT others(1): Show |
7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0043others(4): Show | 7 | HG00597.hp1 HG02970.hp1 NA18967.hp1 others(4): Show |
intron_variant | MODIFIER | c.4930-380_4930-373d others(10): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr16 | 1214580 | |||||
| chr16:1214657
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4930-315C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214657 | ||||||
| chr16:1214663
|
C | T | 3 | a0004c0019t0001g0148a0004c0019t0001g0222a0004c0019t0002g0063 | 3 | NA18966.hp2 NA19007.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.4930-309C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214663 | ||||||
| chr16:1214702
|
C | T | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.4930-270C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214702 | ||||||
| chr16:1214722
|
T | G | 7 | a0002c0039t0003g0229a0002c0109t0001g0080a0029c0065t0007g0202others(4): Show | 7 | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.4930-250T>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214722 | ||||||
| chr16:1214723
|
C | G | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4930-249C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214723 | ||||||
| chr16:1214759
|
C | G | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4930-213C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214759 | ||||||
| chr16:1214783
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4930-189C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214783 | ||||||
| chr16:1214878
|
G | A | 1 | a0001c0001t0002g0084 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.4930-94G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214878 | ||||||
| chr16:1214895
|
G | A | 3 | a0003c0107t0004g0184a0014c0018t0004g0034a0014c0018t0011g0151 | 3 | HG02602.hp1 NA18964.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.4930-77G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214895 | ||||||
| chr16:1214933
|
C | G | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4930-39C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 27/34 | chr16 | 1214933 | ||||||
| chr16:1215149
|
G | A | 1 | a0051c0054t0003g0130 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5039+68G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 28/34 | chr16 | 1215149 | ||||||
| chr16:1215179
|
A | G | 1 | a0039c0099t0006g0054 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.5040-63A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 28/34 | chr16 | 1215179 | ||||||
| chr16:1215385
|
C | T | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5173+10C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/34 | chr16 | 1215385 | ||||||
| chr16:1215410
|
G | A | 1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.5173+35G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/34 | chr16 | 1215410 | ||||||
| chr16:1215412
|
G | A | 2 | a0007c0005t0003g0149a0007c0052t0007g0053 | 2 | HG03239.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5173+37G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/34 | chr16 | 1215412 | ||||||
| chr16:1215451
|
C | T | 1 | a0059c0079t0004g0036 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.5174-72C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/34 | chr16 | 1215451 | ||||||
| chr16:1215461
|
A | G | 1 | a0001c0097t0001g0077 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.5174-62A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 29/34 | chr16 | 1215461 | ||||||
| chr16:1215600
|
G | A | 46 | a0001c0001t0001g0044a0001c0001t0001g0131a0001c0001t0001g0132others(43): Show | 46 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(43): Show |
splice_region_variant&intron_variant | LOW | c.5244+7G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215600 | ||||||
| chr16:1215621
|
G | A | 17 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(14): Show | 17 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.5244+28G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215621 | ||||||
| chr16:1215660
|
C | T | 1 | a0009c0016t0013g0245 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.5244+67C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215660 | ||||||
| chr16:1215666
|
CCT | C | 4 | a0003c0022t0020g0025a0003c0022t0028g0026a0030c0067t0020g0323others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.5244+77_5244+78del others(2): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr16 | 1215666 | |||||
| chr16:1215667
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.5244+74C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215667 | ||||||
| chr16:1215720
|
C | T | 309 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(306): Show | 311 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(308): Show |
intron_variant | MODIFIER | c.5244+127C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215720 | ||||||
| chr16:1215793
|
A | G | 2 | a0002c0008t0019g0031a0002c0008t0019g0221 | 2 | HG01891.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5244+200A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215793 | ||||||
| chr16:1215854
|
C | T | 163 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(160): Show | 163 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.5244+261C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215854 | ||||||
| chr16:1215887
|
G | A | 1 | a0001c0001t0002g0152 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.5244+294G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215887 | ||||||
| chr16:1215891
|
G | A | 4 | a0002c0008t0001g0185a0002c0008t0005g0252a0018c0027t0001g0145others(1): Show | 4 | HG00733.hp1 HG01106.hp2 HG01168.hp1 others(1): Show |
intron_variant | MODIFIER | c.5244+298G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215891 | ||||||
| chr16:1215932
|
G | T | 1 | a0001c0001t0001g0140 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.5244+339G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1215932 | ||||||
| chr16:1216009
|
G | GCCCCTGC | 23 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(20): Show | 24 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5244+419_5244+425d others(9): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr16 | 1216009 | |||||
| chr16:1216020
|
G | T | 17 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(14): Show | 17 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.5244+427G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216020 | ||||||
| chr16:1216032
|
C | T | 2 | a0002c0002t0001g0157a0057c0077t0001g0191 | 2 | HG02056.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.5244+439C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216032 | ||||||
| chr16:1216059
|
T | C | 2 | a0003c0068t0004g0290a0028c0049t0004g0321 | 2 | HG03579.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.5244+466T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216059 | ||||||
| chr16:1216069
|
G | A | 2 | a0001c0001t0001g0236a0033c0106t0001g0160 | 2 | NA18960.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.5244+476G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216069 | ||||||
| chr16:1216161
|
A | G | 35 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(32): Show | 36 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.5244+568A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216161 | ||||||
| chr16:1216166
|
C | G | 1 | a0001c0001t0001g0236 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5244+573C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216166 | ||||||
| chr16:1216171
|
C | T | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5244+578C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216171 | ||||||
| chr16:1216206
|
C | T | 23 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(20): Show | 24 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5244+613C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216206 | ||||||
| chr16:1216278
|
C | T | 2 | a0003c0060t0039g0317a0059c0079t0004g0036 | 2 | HG02486.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.5245-654C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216278 | ||||||
| chr16:1216282
|
G | T | 1 | a0002c0010t0005g0270 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.5245-650G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216282 | ||||||
| chr16:1216325
|
A | G | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5245-607A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216325 | ||||||
| chr16:1216332
|
C | T | 7 | a0002c0063t0001g0287a0008c0059t0003g0020a0010c0024t0001g0300others(4): Show | 7 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.5245-600C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216332 | ||||||
| chr16:1216345
|
G | A | 1 | a0001c0001t0002g0097 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.5245-587G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216345 | ||||||
| chr16:1216396
|
C | T | 34 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(31): Show | 35 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(32): Show |
intron_variant | MODIFIER | c.5245-536C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216396 | ||||||
| chr16:1216400
|
G | A | 17 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(14): Show | 17 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.5245-532G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216400 | ||||||
| chr16:1216436
|
T | TG | 36 | a0001c0001t0002g0055a0003c0015t0004g0060a0003c0015t0011g0015others(33): Show | 37 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(34): Show |
intron_variant | MODIFIER | c.5245-493dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr16 | 1216436 | |||||
| chr16:1216458
|
T | C | 1 | a0003c0107t0004g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.5245-474T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216458 | ||||||
| chr16:1216506
|
C | G | 1 | a0005c0003t0001g0178 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.5245-426C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216506 | ||||||
| chr16:1216649
|
T | C | 7 | a0001c0001t0002g0152a0002c0002t0007g0082a0002c0014t0007g0081others(4): Show | 7 | HG00438.hp1 HG02056.hp2 NA18945.hp1 others(4): Show |
intron_variant | MODIFIER | c.5245-283T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216649 | ||||||
| chr16:1216676
|
G | A | 17 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(14): Show | 17 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.5245-256G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216676 | ||||||
| chr16:1216686
|
C | T | 2 | a0001c0040t0001g0228a0008c0059t0003g0020 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.5245-246C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216686 | ||||||
| chr16:1216687
|
G | A | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.5245-245G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216687 | ||||||
| chr16:1216729
|
A | G | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.5245-203A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216729 | ||||||
| chr16:1216741
|
G | C | 7 | a0001c0001t0001g0052a0001c0001t0001g0140a0001c0001t0001g0182others(4): Show | 7 | HG01361.hp1 HG01934.hp1 HG01975.hp1 others(4): Show |
intron_variant | MODIFIER | c.5245-191G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216741 | ||||||
| chr16:1216803
|
C | CT | 333 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(330): Show | 336 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(333): Show |
intron_variant | MODIFIER | c.5245-129_5245-128i others(3): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216803 | ||||||
| chr16:1216811
|
G | A | 1 | a0001c0092t0009g0306 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.5245-121G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216811 | ||||||
| chr16:1216856
|
C | A | 1 | a0063c0044t0006g0126 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.5245-76C>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | chr16 | 1216856 | ||||||
| chr16:1217140
|
G | A | 1 | a0001c0001t0001g0322 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5323+130G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217140 | ||||||
| chr16:1217142
|
G | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.5323+132G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217142 | ||||||
| chr16:1217201
|
G | A | 2 | a0002c0058t0023g0027a0007c0005t0003g0181 | 2 | HG00642.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5323+191G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217201 | ||||||
| chr16:1217207
|
G | A | 3 | a0007c0005t0008g0258a0007c0005t0008g0259a0007c0005t0008g0277 | 3 | HG01496.hp2 HG03017.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.5323+197G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217207 | ||||||
| chr16:1217244
|
A | G | 1 | a0078c0046t0004g0076 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5323+234A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217244 | ||||||
| chr16:1217379
|
TCTCCCCT others(26): Show |
T | 1 | a0045c0089t0005g0262 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.5323+371_5323+403d others(35): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr16 | 1217379 | |||||
| chr16:1217380
|
C | G | 310 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(307): Show | 312 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(309): Show |
intron_variant | MODIFIER | c.5323+370C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217380 | ||||||
| chr16:1217434
|
C | T | 1 | a0072c0123t0006g0059 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5323+424C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217434 | ||||||
| chr16:1217452
|
G | C | 4 | a0002c0011t0001g0225a0002c0025t0001g0223a0002c0025t0001g0226others(1): Show | 4 | HG01884.hp2 HG03195.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5323+442G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217452 | ||||||
| chr16:1217495
|
G | T | 1 | a0058c0069t0033g0049 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.5324-424G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217495 | ||||||
| chr16:1217509
|
G | A | 8 | a0003c0022t0020g0025a0003c0022t0028g0026a0003c0028t0004g0028others(5): Show | 8 | HG02109.hp2 HG02486.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.5324-410G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217509 | ||||||
| chr16:1217527
|
G | A | 7 | a0015c0017t0003g0107a0015c0017t0003g0108a0015c0017t0003g0119others(4): Show | 7 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.5324-392G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217527 | ||||||
| chr16:1217537
|
C | T | 3 | a0004c0006t0001g0294a0004c0006t0001g0303a0004c0006t0002g0234 | 3 | HG02080.hp2 NA18945.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.5324-382C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217537 | ||||||
| chr16:1217538
|
G | A | 1 | a0004c0006t0001g0199 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.5324-381G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217538 | ||||||
| chr16:1217616
|
G | A | 1 | a0002c0055t0001g0215 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5324-303G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217616 | ||||||
| chr16:1217639
|
G | A | 1 | a0016c0134t0003g0308 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5324-280G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217639 | ||||||
| chr16:1217641
|
G | A | 2 | a0001c0001t0001g0112a0001c0001t0001g0113 | 2 | HG02129.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.5324-278G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217641 | ||||||
| chr16:1217656
|
C | G | 298 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(295): Show | 300 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(297): Show |
intron_variant | MODIFIER | c.5324-263C>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217656 | ||||||
| chr16:1217866
|
C | T | 1 | a0003c0132t0030g0278 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5324-53C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217866 | ||||||
| chr16:1217867
|
G | A | 7 | a0015c0017t0003g0107a0015c0017t0003g0108a0015c0017t0003g0119others(4): Show | 7 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.5324-52G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217867 | ||||||
| chr16:1217915
|
G | A | 2 | a0003c0068t0004g0290a0028c0049t0004g0321 | 2 | HG03579.hp1 NA19030.hp1 |
splice_region_variant&intron_variant | LOW | c.5324-4G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 31/34 | chr16 | 1217915 | ||||||
| chr16:1218046
|
C | T | 1 | a0026c0128t0040g0014 | 1 | HG02451.hp1 | splice_region_variant&intron_variant | LOW | c.5445+6C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 32/34 | chr16 | 1218046 | ||||||
| chr16:1218703
|
G | A | 1 | a0031c0113t0018g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5887+52G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/34 | chr16 | 1218703 | ||||||
| chr16:1218758
|
A | G | 285 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(282): Show | 287 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.5887+107A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/34 | chr16 | 1218758 | ||||||
| chr16:1218760
|
G | A | 1 | a0001c0001t0002g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.5887+109G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/34 | chr16 | 1218760 | ||||||
| chr16:1218829
|
G | A | 33 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(30): Show | 34 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.5888-141G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/34 | chr16 | 1218829 | ||||||
| chr16:1218882
|
G | C | 1 | a0002c0058t0023g0027 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5888-88G>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 33/34 | chr16 | 1218882 | ||||||
| chr16:1219142
|
C | T | 2 | a0003c0028t0004g0028a0003c0133t0004g0046 | 2 | HG02717.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.6048+12C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219142 | ||||||
| chr16:1219143
|
G | A | 22 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(19): Show | 23 | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.6048+13G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219143 | ||||||
| chr16:1219145
|
TG | T | 37 | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(34): Show | 38 | HG00621.hp2 HG00733.hp2 HG01099.hp1 others(35): Show |
intron_variant | MODIFIER | c.6048+17delG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr16 | 1219145 | |||||
| chr16:1219166
|
G | A | 1 | a0017c0066t0025g0232 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6048+36G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219166 | ||||||
| chr16:1219171
|
T | TG | 56 | a0001c0001t0001g0039a0001c0001t0001g0052a0001c0001t0001g0079others(53): Show | 56 | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.6048+47dupG | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr16 | 1219171 | |||||
| chr16:1219183
|
A | G | 3 | a0038c0101t0008g0261a0042c0083t0003g0038a0056c0115t0003g0190 | 3 | HG00733.hp2 HG01099.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.6048+53A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219183 | ||||||
| chr16:1219201
|
C | T | 1 | a0002c0012t0002g0050 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6048+71C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219201 | ||||||
| chr16:1219280
|
C | T | 8 | a0008c0059t0003g0020a0015c0017t0003g0107a0015c0017t0003g0108others(5): Show | 8 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.6048+150C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219280 | ||||||
| chr16:1219292
|
T | C | 310 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(307): Show | 312 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(309): Show |
intron_variant | MODIFIER | c.6048+162T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219292 | ||||||
| chr16:1219312
|
C | T | 18 | a0009c0016t0006g0167a0009c0016t0013g0245a0009c0016t0013g0246others(15): Show | 18 | HG00099.hp2 HG00323.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.6048+182C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219312 | ||||||
| chr16:1219313
|
G | A | 2 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | HG01243.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.6048+183G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219313 | ||||||
| chr16:1219422
|
T | C | 316 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(313): Show | 318 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(315): Show |
intron_variant | MODIFIER | c.6048+292T>C | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219422 | ||||||
| chr16:1219459
|
G | A | 7 | a0015c0017t0003g0107a0015c0017t0003g0108a0015c0017t0003g0119others(4): Show | 7 | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.6048+329G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219459 | ||||||
| chr16:1219612
|
C | T | 6 | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.6049-369C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219612 | ||||||
| chr16:1219634
|
G | A | 2 | a0003c0068t0004g0290a0028c0049t0004g0321 | 2 | HG03579.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6049-347G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219634 | ||||||
| chr16:1219674
|
A | T | 1 | a0008c0059t0003g0020 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6049-307A>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219674 | ||||||
| chr16:1219680
|
G | A | 244 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(241): Show | 245 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.6049-301G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219680 | ||||||
| chr16:1219740
|
A | G | 244 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(241): Show | 245 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.6049-241A>G | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219740 | ||||||
| chr16:1219767
|
G | T | 2 | a0024c0037t0004g0056a0024c0037t0004g0280 | 2 | HG02083.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.6049-214G>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219767 | ||||||
| chr16:1219789
|
TCA | T | 244 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(241): Show | 245 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.6049-189_6049-188d others(4): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr16 | 1219789 | |||||
| chr16:1219867
|
G | A | 2 | a0008c0056t0038g0224a0017c0064t0032g0276 | 2 | HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.6049-114G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219867 | ||||||
| chr16:1219894
|
C | T | 1 | a0046c0096t0001g0105 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.6049-87C>T | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219894 | ||||||
| chr16:1219909
|
G | A | 4 | a0003c0022t0020g0025a0003c0022t0028g0026a0030c0067t0020g0323others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.6049-72G>A | CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 34/34 | chr16 | 1219909 |