| geneid | 774 |
|---|---|
| ensemblid | ENSG00000148408.14 |
| hgncid | 1389 |
| symbol | CACNA1B |
| name | calcium voltage-gated channel subunit alpha1 B |
| refseq_nuc | NM_000718.4 |
| refseq_prot | NP_000709.1 |
| ensembl_nuc | ENST00000371372.6 |
| ensembl_prot | ENSP00000360423.1 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 137877782 |
| end | 138124619 |
| strand | + |
| ver | v1.2 |
| region | chr9:137877782-138124619 |
| region5000 | chr9:137872782-138129619 |
| regionname0 | CACNA1B_chr9_137877782_138124619 |
| regionname5000 | CACNA1B_chr9_137872782_138129619 |
| 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 | 2334 | 114 | 32 | 6 | 64 | 2 | 10 | 46 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002 | 1/1 | 2339 | 82 | 16 | 13 | 34 | 4 | 13 | 25 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003 | 0/0 | 2339 | 13 | 0 | 8 | 0 | 1 | 4 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004 | 0/0 | 2339 | 9 | 8 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005 | 0/0 | 2339 | 4 | 3 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0006 | 0/0 | 2339 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0007 | 0/0 | 2334 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0008 | 0/0 | 2334 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0009 | 0/0 | 2334 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0010 | 0/0 | 2339 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0011 | 0/0 | 2339 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0012 | 0/0 | 2339 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0013 | 0/0 | 2339 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0014 | 0/0 | 2334 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0015 | 0/0 | 2334 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0016 | 0/0 | 2339 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0017 | 0/0 | 2334 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0018 | 0/0 | 2334 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0019 | 0/0 | 2334 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0020 | 0/0 | 2339 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0021 | 0/0 | 2334 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0022 | 0/0 | 2339 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| 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 | 7020 | 37 | 4 | 9 | 16 | 3 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0002 | 0/0 | 7005 | 34 | 8 | 2 | 21 | 0 | 3 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0003 | 0/0 | 7005 | 19 | 18 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0004 | 0/0 | 7020 | 16 | 4 | 3 | 4 | 0 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0005 | 0/0 | 7005 | 15 | 0 | 1 | 14 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0006 | 0/0 | 7020 | 13 | 0 | 8 | 0 | 1 | 4 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0007 | 0/0 | 7005 | 12 | 0 | 0 | 11 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0008 | 1/0 | 7020 | 11 | 1 | 0 | 9 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0009 | 0/0 | 7005 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0010 | 0/0 | 7020 | 6 | 6 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0011 | 0/0 | 7020 | 5 | 0 | 0 | 5 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0012 | 0/0 | 7005 | 5 | 0 | 0 | 5 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0013 | 0/0 | 7005 | 5 | 0 | 0 | 1 | 0 | 4 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0014 | 0/0 | 7020 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0015 | 0/0 | 7005 | 3 | 0 | 0 | 1 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0016 | 0/0 | 7005 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0017 | 0/0 | 7005 | 3 | 2 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0018 | 0/0 | 7005 | 3 | 0 | 1 | 0 | 1 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0019 | 0/0 | 7005 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0020 | 0/1 | 7020 | 3 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0021 | 0/0 | 7005 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0022 | 0/0 | 7005 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0023 | 0/0 | 7020 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0024 | 0/0 | 7020 | 2 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0025 | 0/0 | 7020 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0026 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0027 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0028 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0029 | 0/0 | 7020 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0030 | 0/0 | 7020 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0031 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0032 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0033 | 0/0 | 7020 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0034 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0035 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0036 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0037 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0038 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0039 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0040 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0041 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0042 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0043 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0044 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0045 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0046 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0047 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0048 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0049 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0050 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0051 | 0/0 | 7005 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0052 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0053 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0054 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0055 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0056 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| c0057 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| 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 | 2771 | 52 | 3 | 11 | 26 | 2 | 10 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0002 | 0/1 | 2771 | 44 | 3 | 8 | 24 | 3 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0003 | 0/0 | 2771 | 27 | 0 | 1 | 23 | 1 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0004 | 0/0 | 2768 | 19 | 0 | 1 | 18 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0005 | 0/0 | 2764 | 12 | 12 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0006 | 1/0 | 2773 | 11 | 10 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0007 | 0/0 | 2767 | 10 | 9 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0008 | 0/0 | 2771 | 10 | 6 | 1 | 1 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0009 | 0/0 | 2771 | 6 | 1 | 0 | 0 | 0 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0010 | 0/0 | 2769 | 6 | 6 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0011 | 0/0 | 2764 | 3 | 2 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0012 | 0/0 | 2764 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0013 | 0/0 | 2773 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0014 | 0/0 | 2764 | 3 | 0 | 0 | 0 | 0 | 3 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0015 | 0/0 | 2771 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0016 | 0/0 | 2769 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0017 | 0/0 | 2774 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0018 | 0/0 | 2770 | 2 | 0 | 0 | 1 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0019 | 0/0 | 2771 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0020 | 0/0 | 2773 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0021 | 0/0 | 2773 | 2 | 1 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0022 | 0/0 | 2773 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0023 | 0/0 | 2771 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0024 | 0/0 | 2770 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0025 | 0/0 | 2773 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0026 | 0/0 | 2736 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0027 | 0/0 | 2773 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0028 | 0/0 | 2763 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0029 | 0/0 | 2771 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0030 | 0/0 | 2771 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0031 | 0/0 | 2771 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0032 | 0/0 | 2775 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0033 | 0/0 | 2771 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0034 | 0/0 | 2768 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0035 | 0/0 | 2771 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0036 | 0/0 | 2773 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0037 | 0/0 | 2770 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0038 | 0/0 | 2770 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0039 | 0/0 | 2771 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0040 | 0/0 | 2771 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0041 | 0/0 | 2771 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0042 | 0/0 | 2768 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0043 | 0/0 | 2770 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0044 | 0/0 | 2773 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| t0045 | 0/0 | 2764 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0216 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| g0248 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/0 | 7005 | 34 | 8 | 2 | 21 | 0 | 3 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003 | 0/0 | 7005 | 19 | 18 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0005 | 0/0 | 7005 | 15 | 0 | 1 | 14 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0007 | 0/0 | 7005 | 12 | 0 | 0 | 11 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0009 | 0/0 | 7005 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0012 | 0/0 | 7005 | 5 | 0 | 0 | 5 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0013 | 0/0 | 7005 | 5 | 0 | 0 | 1 | 0 | 4 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0015 | 0/0 | 7005 | 3 | 0 | 0 | 1 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0017 | 0/0 | 7005 | 3 | 2 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0018 | 0/0 | 7005 | 3 | 0 | 1 | 0 | 1 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0022 | 0/0 | 7005 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0032 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0041 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0044 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0048 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0050 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0051 | 0/0 | 7005 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0053 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001 | 0/0 | 7020 | 37 | 4 | 9 | 16 | 3 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004 | 0/0 | 7020 | 16 | 4 | 3 | 4 | 0 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008 | 1/0 | 7020 | 11 | 1 | 0 | 9 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0010 | 0/0 | 7020 | 6 | 6 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0011 | 0/0 | 7020 | 5 | 0 | 0 | 5 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0020 | 0/1 | 7020 | 3 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0033 | 0/0 | 7020 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0035 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0056 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0057 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003c0006 | 0/0 | 7020 | 13 | 0 | 8 | 0 | 1 | 4 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0023 | 0/0 | 7020 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0025 | 0/0 | 7020 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0029 | 0/0 | 7020 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0042 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0043 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0054 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0055 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0024 | 0/0 | 7020 | 2 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0038 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0039 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0006c0014 | 0/0 | 7020 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0006c0026 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0007c0016 | 0/0 | 7005 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0008c0019 | 0/0 | 7005 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0009c0021 | 0/0 | 7005 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0010c0040 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0011c0037 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0012c0036 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0013c0034 | 0/0 | 7020 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0014c0031 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0015c0049 | 0/0 | 7005 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0016c0030 | 0/0 | 7020 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0017c0047 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0018c0046 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0019c0045 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0020c0052 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0021c0027 | 0/0 | 7005 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0022c0028 | 0/0 | 7020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 0/0 | 9775 | 18 | 0 | 0 | 16 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0004 | 0/0 | 9772 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0005 | 0/0 | 9768 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0008 | 0/0 | 9775 | 4 | 3 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0011 | 0/0 | 9768 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0013 | 0/0 | 9777 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0021 | 0/0 | 9777 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0030 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0033 | 0/0 | 9775 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0002t0037 | 0/0 | 9774 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0005 | 0/0 | 9768 | 5 | 5 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0006 | 0/0 | 9777 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0007 | 0/0 | 9771 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0010 | 0/0 | 9773 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0034 | 0/0 | 9772 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0043 | 0/0 | 9774 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0044 | 0/0 | 9777 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0003t0045 | 0/0 | 9768 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0005t0004 | 0/0 | 9772 | 15 | 0 | 1 | 14 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0007t0001 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0007t0003 | 0/0 | 9775 | 11 | 0 | 0 | 10 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0009t0003 | 0/0 | 9775 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0012t0001 | 0/0 | 9775 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0012t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0012t0004 | 0/0 | 9772 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0013t0008 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0013t0009 | 0/0 | 9775 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0013t0014 | 0/0 | 9768 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0013t0027 | 0/0 | 9777 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0015t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0015t0009 | 0/0 | 9775 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0017t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0017t0006 | 0/0 | 9777 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0017t0016 | 0/0 | 9773 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0018t0003 | 0/0 | 9775 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0018t0009 | 0/0 | 9775 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0018t0018 | 0/0 | 9774 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0022t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0022t0020 | 0/0 | 9777 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0032t0001 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0041t0001 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0044t0005 | 0/0 | 9768 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0048t0006 | 0/0 | 9777 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0050t0040 | 0/0 | 9775 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0051t0007 | 0/0 | 9771 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0001c0053t0028 | 0/0 | 9767 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0001 | 0/0 | 9790 | 13 | 1 | 7 | 1 | 1 | 3 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0002 | 0/0 | 9790 | 17 | 1 | 1 | 12 | 2 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0003 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0005 | 0/0 | 9783 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0020 | 0/0 | 9792 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0029 | 0/0 | 9790 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0035 | 0/0 | 9790 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0038 | 0/0 | 9789 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0001t0041 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004t0001 | 0/0 | 9790 | 11 | 1 | 2 | 3 | 0 | 5 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004t0005 | 0/0 | 9783 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004t0007 | 0/0 | 9786 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004t0026 | 0/0 | 9755 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0004t0031 | 0/0 | 9790 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008t0001 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008t0003 | 0/0 | 9790 | 6 | 0 | 0 | 6 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008t0006 | 1/0 | 9792 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008t0015 | 0/0 | 9790 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0008t0018 | 0/0 | 9789 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0010t0005 | 0/0 | 9783 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0010t0010 | 0/0 | 9788 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0010t0012 | 0/0 | 9783 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0011t0002 | 0/0 | 9790 | 5 | 0 | 0 | 5 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0020t0002 | 0/1 | 9790 | 3 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0033t0001 | 0/0 | 9790 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0035t0002 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0056t0002 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0002c0057t0003 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003c0006t0001 | 0/0 | 9790 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003c0006t0002 | 0/0 | 9790 | 9 | 0 | 7 | 0 | 0 | 2 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003c0006t0008 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0003c0006t0039 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0023t0008 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0023t0042 | 0/0 | 9787 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0025t0013 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0025t0022 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0029t0036 | 0/0 | 9792 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0042t0008 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0043t0009 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0054t0008 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0004c0055t0022 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0024t0011 | 0/0 | 9783 | 2 | 1 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0038t0023 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0005c0039t0032 | 0/0 | 9794 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0006c0014t0006 | 0/0 | 9792 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0006c0026t0006 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0007c0016t0007 | 0/0 | 9771 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0008c0019t0017 | 0/0 | 9778 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0008c0019t0025 | 0/0 | 9777 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0009c0021t0010 | 0/0 | 9773 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0009c0021t0019 | 0/0 | 9775 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0010c0040t0002 | 0/0 | 9790 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0011c0037t0014 | 0/0 | 9783 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0012c0036t0014 | 0/0 | 9783 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0013c0034t0008 | 0/0 | 9790 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0014c0031t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0015c0049t0002 | 0/0 | 9775 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0016c0030t0003 | 0/0 | 9790 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0017c0047t0006 | 0/0 | 9777 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0018c0046t0016 | 0/0 | 9773 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0019c0045t0007 | 0/0 | 9771 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0020c0052t0006 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0021c0027t0024 | 0/0 | 9774 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| a0022c0028t0021 | 0/0 | 9792 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | copy fasta | chr9 | 137872782 | 138129619 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0004g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0004g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0004g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0005g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0008g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0008g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0008g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0008g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0011g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0013g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0013g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0021g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0030g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0033g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0002t0037g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0005g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0005g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0005g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0005g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0005g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0006g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0006g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0007g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0007g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0007g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0007g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0010g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0010g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0010g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0010g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0034g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0043g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0044g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0003t0045g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0005t0004g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0007t0003g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0009t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0012t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0012t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0012t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0012t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0012t0004g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0013t0008g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0013t0009g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0013t0009g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0013t0014g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0013t0027g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0015t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0015t0009g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0015t0009g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0017t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0017t0006g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0017t0016g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0018t0003g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0018t0009g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0018t0018g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0022t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0022t0020g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0032t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0041t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0044t0005g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0048t0006g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0050t0040g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0051t0007g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0001c0053t0028g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0002g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0003g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0005g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0020g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0029g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0035g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0038g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0001t0041g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0005g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0005g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0007g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0026g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0004t0031g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0003g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0006g0248 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0015g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0015g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0008t0018g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0005g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0005g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0010g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0012g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0012g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0010t0012g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0011t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0011t0002g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0011t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0011t0002g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0011t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0020t0002g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0020t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0020t0002g0216 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0033t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0035t0002g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0056t0002g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0002c0057t0003g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0002g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0008g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0003c0006t0039g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0023t0008g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0023t0042g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0025t0013g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0025t0022g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0029t0036g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0042t0008g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0043t0009g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0054t0008g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0004c0055t0022g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0005c0024t0011g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0005c0024t0011g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0005c0038t0023g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0005c0039t0032g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0006c0014t0006g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0006c0014t0006g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0006c0014t0006g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0006c0026t0006g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0007c0016t0007g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0007c0016t0007g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0007c0016t0007g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0008c0019t0017g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0008c0019t0017g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0008c0019t0025g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0009c0021t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0009c0021t0019g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0009c0021t0019g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0010c0040t0002g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0011c0037t0014g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0012c0036t0014g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0013c0034t0008g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0014c0031t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0015c0049t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0016c0030t0003g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0017c0047t0006g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0018c0046t0016g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0019c0045t0007g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0020c0052t0006g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0021c0027t0024g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| a0022c0028t0021g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0002 | c0001 | t0001 | g0165 | EUR | FIN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00280 | hp2 | a0001 | c0007 | t0003 | g0044 | EUR | FIN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00323 | hp1 | a0002 | c0001 | t0002 | g0167 | EUR | FIN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00323 | hp2 | a0003 | c0006 | t0001 | g0150 | EUR | FIN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00438 | hp1 | a0001 | c0005 | t0004 | g0028 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00438 | hp2 | a0015 | c0049 | t0002 | g0100 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00544 | hp1 | a0002 | c0001 | t0029 | g0189 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00544 | hp2 | a0001 | c0002 | t0001 | g0035 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00597 | hp1 | a0001 | c0005 | t0004 | g0089 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00597 | hp2 | a0002 | c0008 | t0003 | g0170 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00609 | hp1 | a0002 | c0001 | t0002 | g0159 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00609 | hp2 | a0001 | c0041 | t0001 | g0182 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00621 | hp1 | a0001 | c0007 | t0003 | g0027 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00621 | hp2 | a0002 | c0001 | t0002 | g0229 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00639 | hp1 | a0003 | c0006 | t0002 | g0138 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00639 | hp2 | a0002 | c0001 | t0001 | g0036 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00642 | hp1 | a0003 | c0006 | t0002 | g0152 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00642 | hp2 | a0002 | c0004 | t0031 | g0247 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00673 | hp1 | a0001 | c0005 | t0004 | g0137 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0058 | EAS | CHS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00738 | hp1 | a0003 | c0006 | t0002 | g0153 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG00738 | hp2 | a0001 | c0018 | t0003 | g0049 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01069 | hp1 | a0002 | c0001 | t0001 | g0166 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01069 | hp2 | a0002 | c0001 | t0001 | g0208 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01071 | hp1 | a0002 | c0001 | t0001 | g0209 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01071 | hp2 | a0002 | c0001 | t0001 | g0227 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01099 | hp1 | a0002 | c0033 | t0001 | g0161 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01099 | hp2 | a0002 | c0004 | t0001 | g0019 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01109 | hp1 | a0003 | c0006 | t0002 | g0139 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01109 | hp2 | a0004 | c0029 | t0036 | g0206 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01243 | hp1 | a0002 | c0001 | t0002 | g0228 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01243 | hp2 | a0001 | c0051 | t0007 | g0108 | AMR | PUR | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01255 | hp1 | a0002 | c0001 | t0038 | g0164 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01255 | hp2 | a0002 | c0001 | t0001 | g0214 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01256 | hp1 | a0001 | c0002 | t0037 | g0242 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01256 | hp2 | a0002 | c0001 | t0001 | g0222 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01258 | hp1 | a0001 | c0002 | t0008 | g0241 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01258 | hp2 | a0003 | c0006 | t0002 | g0154 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01261 | hp1 | a0003 | c0006 | t0002 | g0141 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01261 | hp2 | a0001 | c0003 | t0045 | g0008 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01433 | hp1 | a0003 | c0006 | t0001 | g0147 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01433 | hp2 | a0002 | c0004 | t0001 | g0175 | AMR | CLM | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01515 | hp1 | a0002 | c0020 | t0002 | g0015 | EUR | IBS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01515 | hp2 | a0001 | c0018 | t0018 | g0033 | EUR | IBS | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01884 | hp1 | a0004 | c0025 | t0013 | g0217 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01884 | hp2 | a0001 | c0002 | t0033 | g0025 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01891 | hp1 | a0006 | c0014 | t0006 | g0140 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01891 | hp2 | a0007 | c0016 | t0007 | g0205 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01943 | hp1 | a0001 | c0005 | t0004 | g0086 | AMR | PEL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG01943 | hp2 | a0003 | c0006 | t0002 | g0155 | AMR | PEL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02015 | hp1 | a0002 | c0001 | t0035 | g0232 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02015 | hp2 | a0001 | c0002 | t0001 | g0072 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02040 | hp1 | a0002 | c0001 | t0002 | g0055 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02040 | hp2 | a0001 | c0005 | t0004 | g0090 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02056 | hp1 | a0002 | c0004 | t0001 | g0187 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02056 | hp2 | a0001 | c0007 | t0003 | g0047 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02074 | hp1 | a0001 | c0007 | t0003 | g0037 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02074 | hp2 | a0001 | c0005 | t0004 | g0088 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02080 | hp1 | a0001 | c0002 | t0001 | g0186 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02080 | hp2 | a0001 | c0012 | t0001 | g0031 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02135 | hp1 | a0002 | c0004 | t0001 | g0168 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02135 | hp2 | a0001 | c0007 | t0003 | g0074 | EAS | KHV | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02145 | hp1 | a0002 | c0020 | t0002 | g0200 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02145 | hp2 | a0001 | c0003 | t0007 | g0114 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02257 | hp1 | a0002 | c0008 | t0001 | g0174 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02257 | hp2 | a0020 | c0052 | t0006 | g0115 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02280 | hp1 | a0001 | c0002 | t0008 | g0065 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02280 | hp2 | a0001 | c0003 | t0005 | g0016 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02451 | hp1 | a0001 | c0003 | t0005 | g0006 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02451 | hp2 | a0001 | c0002 | t0013 | g0012 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02615 | hp1 | a0022 | c0028 | t0021 | g0156 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02615 | hp2 | a0004 | c0055 | t0022 | g0009 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02622 | hp1 | a0007 | c0016 | t0007 | g0054 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02622 | hp2 | a0001 | c0050 | t0040 | g0129 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02647 | hp1 | a0002 | c0001 | t0041 | g0177 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02647 | hp2 | a0009 | c0021 | t0010 | g0004 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02683 | hp1 | a0001 | c0013 | t0027 | g0240 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02683 | hp2 | a0002 | c0035 | t0002 | g0185 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02698 | hp1 | a0002 | c0056 | t0002 | g0245 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02698 | hp2 | a0002 | c0004 | t0001 | g0202 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02717 | hp1 | a0001 | c0003 | t0005 | g0107 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02717 | hp2 | a0001 | c0003 | t0044 | g0011 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02809 | hp1 | a0002 | c0010 | t0005 | g0243 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02809 | hp2 | a0001 | c0044 | t0005 | g0239 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02886 | hp1 | a0006 | c0026 | t0006 | g0144 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02886 | hp2 | a0002 | c0010 | t0012 | g0220 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02895 | hp1 | a0006 | c0014 | t0006 | g0143 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02895 | hp2 | a0001 | c0003 | t0010 | g0134 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02896 | hp1 | a0002 | c0010 | t0012 | g0215 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02896 | hp2 | a0004 | c0043 | t0009 | g0078 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02897 | hp1 | a0006 | c0014 | t0006 | g0142 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02897 | hp2 | a0002 | c0010 | t0012 | g0233 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02965 | hp1 | a0002 | c0010 | t0010 | g0204 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02965 | hp2 | a0001 | c0002 | t0005 | g0024 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02970 | hp1 | a0021 | c0027 | t0024 | g0149 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02970 | hp2 | a0018 | c0046 | t0016 | g0110 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02976 | hp1 | a0004 | c0023 | t0008 | g0077 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02976 | hp2 | a0002 | c0004 | t0001 | g0213 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03017 | hp1 | a0002 | c0004 | t0001 | g0014 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03017 | hp2 | a0012 | c0036 | t0014 | g0224 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03041 | hp1 | a0002 | c0001 | t0001 | g0163 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03041 | hp2 | a0019 | c0045 | t0007 | g0117 | AFR | GWD | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03098 | hp1 | a0001 | c0002 | t0013 | g0128 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03098 | hp2 | a0017 | c0047 | t0006 | g0116 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03139 | hp1 | a0005 | c0039 | t0032 | g0079 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03139 | hp2 | a0001 | c0003 | t0006 | g0112 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03209 | hp1 | a0005 | c0038 | t0023 | g0020 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03209 | hp2 | a0001 | c0002 | t0011 | g0052 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03225 | hp1 | a0001 | c0003 | t0010 | g0135 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03225 | hp2 | a0001 | c0017 | t0016 | g0119 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03239 | hp1 | a0002 | c0001 | t0002 | g0223 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03239 | hp2 | a0001 | c0002 | t0001 | g0068 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03453 | hp1 | a0010 | c0040 | t0002 | g0230 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03453 | hp2 | a0007 | c0016 | t0007 | g0062 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03486 | hp1 | a0004 | c0054 | t0008 | g0013 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03486 | hp2 | a0001 | c0003 | t0034 | g0109 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03492 | hp1 | a0001 | c0002 | t0021 | g0075 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03492 | hp2 | a0001 | c0015 | t0009 | g0081 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03516 | hp1 | a0001 | c0002 | t0008 | g0026 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03516 | hp2 | a0002 | c0001 | t0005 | g0231 | AFR | ESN | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03579 | hp1 | a0001 | c0017 | t0006 | g0122 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03579 | hp2 | a0001 | c0003 | t0010 | g0131 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03688 | hp1 | a0001 | c0013 | t0009 | g0203 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03688 | hp2 | a0003 | c0006 | t0002 | g0151 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03704 | hp1 | a0011 | c0037 | t0014 | g0048 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03704 | hp2 | a0001 | c0013 | t0014 | g0158 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03710 | hp1 | a0003 | c0006 | t0008 | g0145 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03710 | hp2 | a0002 | c0001 | t0001 | g0221 | SAS | PJL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03834 | hp1 | a0013 | c0034 | t0008 | g0236 | SAS | BEB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03834 | hp2 | a0001 | c0013 | t0009 | g0099 | SAS | BEB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04115 | hp1 | a0002 | c0004 | t0001 | g0018 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04115 | hp2 | a0002 | c0057 | t0003 | g0246 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04184 | hp1 | a0002 | c0001 | t0001 | g0173 | SAS | BEB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04184 | hp2 | a0001 | c0015 | t0009 | g0080 | SAS | BEB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04199 | hp1 | a0002 | c0004 | t0001 | g0201 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04199 | hp2 | a0002 | c0001 | t0003 | g0023 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04204 | hp1 | a0003 | c0006 | t0039 | g0148 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04204 | hp2 | a0002 | c0004 | t0001 | g0017 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04228 | hp1 | a0001 | c0018 | t0009 | g0029 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG04228 | hp2 | a0002 | c0001 | t0001 | g0180 | SAS | STU | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18522 | hp1 | a0004 | c0025 | t0022 | g0010 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18522 | hp2 | a0001 | c0003 | t0006 | g0136 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18612 | hp1 | a0001 | c0007 | t0003 | g0041 | EAS | CHB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18612 | hp2 | a0002 | c0001 | t0001 | g0234 | EAS | CHB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18747 | hp1 | a0001 | c0005 | t0004 | g0084 | EAS | CHB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18747 | hp2 | a0001 | c0007 | t0003 | g0045 | EAS | CHB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18906 | hp1 | a0004 | c0042 | t0008 | g0121 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18906 | hp2 | a0001 | c0003 | t0005 | g0130 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18939 | hp1 | a0002 | c0004 | t0026 | g0207 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18939 | hp2 | a0001 | c0022 | t0020 | g0002 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18944 | hp1 | a0001 | c0002 | t0001 | g0123 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18944 | hp2 | a0001 | c0022 | t0002 | g0001 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18945 | hp1 | a0002 | c0008 | t0018 | g0237 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18945 | hp2 | a0001 | c0002 | t0002 | g0046 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18947 | hp1 | a0002 | c0011 | t0002 | g0192 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18947 | hp2 | a0001 | c0002 | t0001 | g0218 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18948 | hp1 | a0002 | c0008 | t0003 | g0219 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18948 | hp2 | a0001 | c0002 | t0001 | g0069 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18950 | hp1 | a0001 | c0005 | t0004 | g0007 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18950 | hp2 | a0002 | c0008 | t0003 | g0198 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18951 | hp1 | a0002 | c0011 | t0002 | g0191 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18951 | hp2 | a0001 | c0002 | t0004 | g0070 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18952 | hp1 | a0002 | c0004 | t0001 | g0179 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18952 | hp2 | a0001 | c0002 | t0004 | g0073 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18954 | hp1 | a0002 | c0008 | t0003 | g0197 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18954 | hp2 | a0001 | c0002 | t0030 | g0120 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18960 | hp1 | a0001 | c0012 | t0002 | g0050 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18960 | hp2 | a0001 | c0015 | t0002 | g0102 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18963 | hp1 | a0002 | c0001 | t0002 | g0181 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18963 | hp2 | a0001 | c0007 | t0003 | g0043 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18964 | hp1 | a0002 | c0008 | t0015 | g0171 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18964 | hp2 | a0001 | c0002 | t0001 | g0104 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0057 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18971 | hp2 | a0002 | c0008 | t0015 | g0169 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18980 | hp1 | a0001 | c0005 | t0004 | g0087 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18980 | hp2 | a0002 | c0008 | t0003 | g0059 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18982 | hp1 | a0002 | c0001 | t0002 | g0210 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18982 | hp2 | a0001 | c0002 | t0001 | g0064 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0103 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18983 | hp2 | a0001 | c0005 | t0004 | g0091 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18990 | hp1 | a0001 | c0007 | t0001 | g0034 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18990 | hp2 | a0002 | c0011 | t0002 | g0244 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18991 | hp1 | a0001 | c0009 | t0003 | g0022 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18991 | hp2 | a0001 | c0002 | t0001 | g0212 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18994 | hp1 | a0001 | c0009 | t0003 | g0096 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18994 | hp2 | a0001 | c0012 | t0001 | g0032 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18995 | hp1 | a0002 | c0008 | t0003 | g0199 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18995 | hp2 | a0001 | c0005 | t0004 | g0098 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18998 | hp1 | a0001 | c0009 | t0003 | g0094 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0063 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18999 | hp1 | a0001 | c0007 | t0003 | g0056 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18999 | hp2 | a0002 | c0001 | t0002 | g0235 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19000 | hp1 | a0001 | c0013 | t0008 | g0066 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19000 | hp2 | a0002 | c0001 | t0002 | g0188 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19002 | hp1 | a0014 | c0031 | t0002 | g0113 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19002 | hp2 | a0001 | c0012 | t0001 | g0051 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19007 | hp1 | a0002 | c0001 | t0002 | g0042 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19007 | hp2 | a0001 | c0017 | t0002 | g0193 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19010 | hp1 | a0001 | c0007 | t0003 | g0038 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19010 | hp2 | a0001 | c0005 | t0004 | g0184 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19011 | hp1 | a0001 | c0005 | t0004 | g0082 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19011 | hp2 | a0002 | c0001 | t0020 | g0030 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19030 | hp1 | a0004 | c0023 | t0042 | g0076 | AFR | LWK | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19030 | hp2 | a0001 | c0003 | t0005 | g0021 | AFR | LWK | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19043 | hp1 | a0002 | c0004 | t0005 | g0133 | AFR | LWK | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19043 | hp2 | a0001 | c0053 | t0028 | g0105 | AFR | LWK | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19056 | hp1 | a0001 | c0005 | t0004 | g0085 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19056 | hp2 | a0008 | c0019 | t0025 | g0126 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19060 | hp1 | a0001 | c0005 | t0004 | g0083 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19060 | hp2 | a0008 | c0019 | t0017 | g0125 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19063 | hp1 | a0001 | c0009 | t0003 | g0093 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19063 | hp2 | a0002 | c0001 | t0002 | g0157 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19065 | hp1 | a0016 | c0030 | t0003 | g0097 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19065 | hp2 | a0002 | c0001 | t0002 | g0211 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19070 | hp1 | a0002 | c0011 | t0002 | g0194 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19070 | hp2 | a0001 | c0002 | t0001 | g0060 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19079 | hp1 | a0001 | c0007 | t0003 | g0225 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19079 | hp2 | a0008 | c0019 | t0017 | g0124 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19080 | hp1 | a0002 | c0011 | t0002 | g0172 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19080 | hp2 | a0001 | c0002 | t0004 | g0067 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19081 | hp1 | a0002 | c0001 | t0002 | g0178 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19081 | hp2 | a0001 | c0032 | t0001 | g0071 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19085 | hp1 | a0001 | c0012 | t0004 | g0040 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19085 | hp2 | a0001 | c0009 | t0003 | g0092 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19088 | hp1 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19088 | hp2 | a0002 | c0001 | t0002 | g0190 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19240 | hp1 | a0001 | c0003 | t0043 | g0127 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA19240 | hp2 | a0001 | c0003 | t0007 | g0118 | AFR | YRI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20129 | hp1 | a0001 | c0003 | t0007 | g0106 | AFR | ASW | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20129 | hp2 | a0002 | c0001 | t0002 | g0196 | AFR | ASW | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20752 | hp1 | a0002 | c0001 | t0002 | g0226 | EUR | TSI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20752 | hp2 | a0005 | c0024 | t0011 | g0162 | EUR | TSI | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0238 | SAS | GIH | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20905 | hp2 | a0003 | c0006 | t0002 | g0146 | SAS | GIH | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02109 | hp1 | a0002 | c0010 | t0005 | g0183 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02109 | hp2 | a0001 | c0002 | t0008 | g0053 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02486 | hp1 | a0009 | c0021 | t0019 | g0005 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02486 | hp2 | a0005 | c0024 | t0011 | g0160 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02559 | hp1 | a0001 | c0003 | t0010 | g0132 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG02559 | hp2 | a0002 | c0004 | t0007 | g0176 | AFR | ACB | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03471 | hp1 | a0001 | c0048 | t0006 | g0101 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| HG03471 | hp2 | a0009 | c0021 | t0019 | g0003 | AFR | MSL | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18955 | hp1 | a0001 | c0009 | t0003 | g0095 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA18955 | hp2 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20300 | hp1 | a0001 | c0003 | t0007 | g0111 | AFR | USA | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| NA20300 | hp2 | a0002 | c0004 | t0005 | g0195 | AFR | USA | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0020 | t0002 | g0216 | REF | REF | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| homoSapiens_grch38 | hp1 | a0002 | c0008 | t0006 | g0248 | REF | REF | CACNA1B_chr9_137872782_138129619 | CACNA1B | chr9 | 137872782 | 138129619 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:137877982
|
G | A | 4 | a0003a0006a0021others(1): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
missense_variant | MODERATE | c.49G>A | p.Gly17Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 201/9792 | 49/7020 | 17/2339 | chr9 | 137877982 | ||
| chr9:137878025
|
G | T | 1 | a0009 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
missense_variant | MODERATE | c.92G>T | p.Gly31Val | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 244/9792 | 92/7020 | 31/2339 | chr9 | 137878025 | ||
| chr9:138023324
|
C | T | 2 | a0020a0022 | 2 | HG02257.hp2 HG02615.hp1 |
missense_variant | MODERATE | c.2581C>T | p.Pro861Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 2733/9792 | 2581/7020 | 861/2339 | chr9 | 138023324 | ||
| chr9:138023327
|
G | T | 14 | a0001a0004a0006others(11): Show | 142 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(139): Show |
missense_variant | MODERATE | c.2584G>T | p.Ala862Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 2736/9792 | 2584/7020 | 862/2339 | chr9 | 138023327 | ||
| chr9:138023507
|
G | T | 1 | a0010 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.2764G>T | p.Gly922Cys | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 2916/9792 | 2764/7020 | 922/2339 | chr9 | 138023507 | ||
| chr9:138023718
|
TGGAGAAG others(8): Show |
T | 11 | a0001a0007a0008others(8): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
conservative_inframe_deletion | MODERATE | c.2986_3000delACCACG others(9): Show |
p.Thr996_Glu1000del | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 3138/9792 | 2986/7020 | 996/2339 | INFO_REALIGN_3_PRIME | chr9 | 138023718 | |
| chr9:138023729
|
A | G | 5 | a0004a0005a0006others(2): Show | 19 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(16): Show |
missense_variant | MODERATE | c.2986A>G | p.Thr996Ala | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 3138/9792 | 2986/7020 | 996/2339 | chr9 | 138023729 | ||
| chr9:138046959
|
C | T | 1 | a0014 | 1 | NA19002.hp1 | missense_variant | MODERATE | c.3469C>T | p.Leu1157Phe | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 22/47 | 3621/9792 | 3469/7020 | 1157/2339 | chr9 | 138046959 | ||
| chr9:138078164
|
A | G | 1 | a0008 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
missense_variant | MODERATE | c.5000A>G | p.Asn1667Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/47 | 5152/9792 | 5000/7020 | 1667/2339 | chr9 | 138078164 | ||
| chr9:138112424
|
G | A | 1 | a0019 | 1 | HG03041.hp2 | missense_variant | MODERATE | c.5455G>A | p.Ala1819Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/47 | 5607/9792 | 5455/7020 | 1819/2339 | chr9 | 138112424 | ||
| chr9:138114401
|
G | T | 1 | a0011 | 1 | HG03704.hp1 | missense_variant | MODERATE | c.5560G>T | p.Val1854Phe | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/47 | 5712/9792 | 5560/7020 | 1854/2339 | chr9 | 138114401 | ||
| chr9:138118755
|
C | T | 1 | a0008 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
missense_variant | MODERATE | c.6017C>T | p.Ala2006Val | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/47 | 6169/9792 | 6017/7020 | 2006/2339 | chr9 | 138118755 | ||
| chr9:138118763
|
A | T | 2 | a0011a0012 | 2 | HG03017.hp2 HG03704.hp1 |
missense_variant | MODERATE | c.6025A>T | p.Thr2009Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/47 | 6177/9792 | 6025/7020 | 2009/2339 | chr9 | 138118763 | ||
| chr9:138121717
|
G | C | 2 | a0013a0015 | 2 | HG00438.hp2 HG03834.hp1 |
missense_variant | MODERATE | c.6738G>C | p.Gln2246His | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 6890/9792 | 6738/7020 | 2246/2339 | chr9 | 138121717 | ||
| chr9:138121818
|
T | A | 1 | a0018 | 1 | HG02970.hp2 | missense_variant | MODERATE | c.6839T>A | p.Phe2280Tyr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 6991/9792 | 6839/7020 | 2280/2339 | chr9 | 138121818 | ||
| chr9:138121911
|
C | CCAACGGT others(8): Show |
1 | a0016 | 1 | NA19065.hp1 | disruptive_inframe_insertion | MODERATE | c.6935_6949dupACGGTT others(9): Show |
p.Asn2312_Cys2316dup | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 7102/9792 | 6950/7020 | 2317/2339 | INFO_REALIGN_3_PRIME | chr9 | 138121911 | |
| chr9:138121968
|
A | C | 1 | a0017 | 1 | HG03098.hp2 | missense_variant | MODERATE | c.6989A>C | p.Tyr2330Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 7141/9792 | 6989/7020 | 2330/2339 | chr9 | 138121968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:137877990
|
G | A | 1 | a0003c0006 | 13 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(10): Show |
synonymous_variant | LOW | c.57G>A | p.Glu19Glu | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 209/9792 | 57/7020 | 19/2339 | chr9 | 137877990 | ||
| chr9:137877996
|
C | T | 1 | a0002c0057 | 1 | HG04115.hp2 | synonymous_variant | LOW | c.63C>T | p.Ala21Ala | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 215/9792 | 63/7020 | 21/2339 | chr9 | 137877996 | ||
| chr9:137878149
|
C | T | 1 | a0002c0056 | 1 | HG02698.hp1 | synonymous_variant | LOW | c.216C>T | p.Asn72Asn | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 368/9792 | 216/7020 | 72/2339 | chr9 | 137878149 | ||
| chr9:137913219
|
A | G | 3 | a0004c0025a0004c0054a0004c0055 | 4 | HG01884.hp1 HG02615.hp2 HG03486.hp1 others(1): Show |
synonymous_variant | LOW | c.570A>G | p.Thr190Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/47 | 722/9792 | 570/7020 | 190/2339 | chr9 | 137913219 | ||
| chr9:137917383
|
G | A | 1 | a0004c0029 | 1 | HG01109.hp2 | synonymous_variant | LOW | c.918G>A | p.Thr306Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/47 | 1070/9792 | 918/7020 | 306/2339 | chr9 | 137917383 | ||
| chr9:137952361
|
C | T | 1 | a0009c0021 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
synonymous_variant | LOW | c.1054C>T | p.Leu352Leu | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/47 | 1206/9792 | 1054/7020 | 352/2339 | chr9 | 137952361 | ||
| chr9:137971423
|
A | G | 1 | a0001c0053 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.1374A>G | p.Thr458Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/47 | 1526/9792 | 1374/7020 | 458/2339 | chr9 | 137971423 | ||
| chr9:137971519
|
C | T | 1 | a0005c0024 | 2 | HG02486.hp2 NA20752.hp2 |
synonymous_variant | LOW | c.1470C>T | p.Cys490Cys | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/47 | 1622/9792 | 1470/7020 | 490/2339 | chr9 | 137971519 | ||
| chr9:137971537
|
A | T | 1 | a0002c0020 | 3 | HG01515.hp1 HG02145.hp1 homoSapiens_chm13v2.hp1 |
synonymous_variant | LOW | c.1488A>T | p.Thr496Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/47 | 1640/9792 | 1488/7020 | 496/2339 | chr9 | 137971537 | ||
| chr9:137971555
|
G | A | 5 | a0001c0005a0001c0009a0001c0015others(2): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
synonymous_variant | LOW | c.1506G>A | p.Val502Val | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/47 | 1658/9792 | 1506/7020 | 502/2339 | chr9 | 137971555 | ||
| chr9:137984164
|
G | A | 7 | a0001c0005a0001c0009a0001c0015others(4): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
synonymous_variant | LOW | c.1683G>A | p.Val561Val | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/47 | 1835/9792 | 1683/7020 | 561/2339 | chr9 | 137984164 | ||
| chr9:137986833
|
C | T | 3 | a0004c0025a0004c0029a0004c0055 | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
synonymous_variant | LOW | c.1953C>T | p.Ala651Ala | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/47 | 2105/9792 | 1953/7020 | 651/2339 | chr9 | 137986833 | ||
| chr9:138023629
|
C | A | 2 | a0001c0012a0001c0041 | 6 | HG00609.hp2 HG02080.hp2 NA18960.hp1 others(3): Show |
synonymous_variant | LOW | c.2886C>A | p.Pro962Pro | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 3038/9792 | 2886/7020 | 962/2339 | chr9 | 138023629 | ||
| chr9:138023668
|
G | C | 1 | a0002c0033 | 1 | HG01099.hp1 | synonymous_variant | LOW | c.2925G>C | p.Pro975Pro | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/47 | 3077/9792 | 2925/7020 | 975/2339 | chr9 | 138023668 | ||
| chr9:138025141
|
G | A | 1 | a0022c0028 | 1 | HG02615.hp1 | synonymous_variant | LOW | c.3255G>A | p.Thr1085Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/47 | 3407/9792 | 3255/7020 | 1085/2339 | chr9 | 138025141 | ||
| chr9:138057783
|
G | A | 1 | a0001c0044 | 1 | HG02809.hp2 | synonymous_variant | LOW | c.4020G>A | p.Gln1340Gln | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 27/47 | 4172/9792 | 4020/7020 | 1340/2339 | chr9 | 138057783 | ||
| chr9:138057795
|
C | T | 2 | a0001c0051a0007c0016 | 4 | HG01243.hp2 HG01891.hp2 HG02622.hp1 others(1): Show |
synonymous_variant | LOW | c.4032C>T | p.Tyr1344Tyr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 27/47 | 4184/9792 | 4032/7020 | 1344/2339 | chr9 | 138057795 | ||
| chr9:138058064
|
C | T | 1 | a0008c0019 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
synonymous_variant | LOW | c.4122C>T | p.Ser1374Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/47 | 4274/9792 | 4122/7020 | 1374/2339 | chr9 | 138058064 | ||
| chr9:138058154
|
C | G | 1 | a0004c0055 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.4212C>G | p.Pro1404Pro | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/47 | 4364/9792 | 4212/7020 | 1404/2339 | chr9 | 138058154 | ||
| chr9:138058238
|
G | A | 14 | a0001c0003a0001c0005a0001c0015others(11): Show | 56 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(53): Show |
synonymous_variant | LOW | c.4296G>A | p.Leu1432Leu | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/47 | 4448/9792 | 4296/7020 | 1432/2339 | chr9 | 138058238 | ||
| chr9:138058247
|
C | T | 1 | a0001c0048 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.4305C>T | p.Asn1435Asn | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/47 | 4457/9792 | 4305/7020 | 1435/2339 | chr9 | 138058247 | ||
| chr9:138058673
|
G | A | 7 | a0001c0051a0004c0042a0004c0043others(4): Show | 13 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
synonymous_variant | LOW | c.4413G>A | p.Pro1471Pro | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 29/47 | 4565/9792 | 4413/7020 | 1471/2339 | chr9 | 138058673 | ||
| chr9:138075885
|
T | C | 1 | a0002c0011 | 5 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(2): Show |
synonymous_variant | LOW | c.4924T>C | p.Leu1642Leu | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/47 | 5076/9792 | 4924/7020 | 1642/2339 | chr9 | 138075885 | ||
| chr9:138096603
|
G | A | 1 | a0002c0011 | 5 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(2): Show |
synonymous_variant | LOW | c.5214G>A | p.Pro1738Pro | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/47 | 5366/9792 | 5214/7020 | 1738/2339 | chr9 | 138096603 | ||
| chr9:138105749
|
C | T | 1 | a0001c0050 | 1 | HG02622.hp2 | synonymous_variant | LOW | c.5370C>T | p.His1790His | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/47 | 5522/9792 | 5370/7020 | 1790/2339 | chr9 | 138105749 | ||
| chr9:138114424
|
C | T | 27 | a0001c0013a0001c0015a0001c0017others(24): Show | 93 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(90): Show |
synonymous_variant | LOW | c.5583C>T | p.Phe1861Phe | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/47 | 5735/9792 | 5583/7020 | 1861/2339 | chr9 | 138114424 | ||
| chr9:138120281
|
G | C | 1 | a0001c0041 | 1 | HG00609.hp2 | synonymous_variant | LOW | c.6147G>C | p.Ser2049Ser | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 45/47 | 6299/9792 | 6147/7020 | 2049/2339 | chr9 | 138120281 | ||
| chr9:138121810
|
T | G | 49 | a0001c0002a0001c0003a0001c0005others(46): Show | 212 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
synonymous_variant | LOW | c.6831T>G | p.Thr2277Thr | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 6983/9792 | 6831/7020 | 2277/2339 | chr9 | 138121810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:137877794
|
G | C | 1 | a0005c0038t0023 | 1 | HG03209.hp1 | 5_prime_UTR_variant | MODIFIER | c.-140G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 140 | chr9 | 137877794 | |||||
| chr9:137877866
|
G | A | 1 | a0021c0027t0024 | 1 | HG02970.hp1 | 5_prime_UTR_variant | MODIFIER | c.-68G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 68 | chr9 | 137877866 | |||||
| chr9:137877898
|
C | T | 4 | a0001c0003t0044a0001c0003t0045a0004c0025t0022others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-36C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/47 | 36 | chr9 | 137877898 | |||||
| chr9:138122079
|
C | T | 64 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(61): Show | 161 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(158): Show |
3_prime_UTR_variant | MODIFIER | c.*80C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 80 | chr9 | 138122079 | |||||
| chr9:138122165
|
G | A | 5 | a0001c0002t0013a0004c0025t0013a0004c0025t0022others(2): Show | 6 | HG01884.hp1 HG02451.hp2 HG02615.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*166G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 166 | chr9 | 138122165 | |||||
| chr9:138122203
|
C | G | 1 | a0002c0004t0031 | 1 | HG00642.hp2 | 3_prime_UTR_variant | MODIFIER | c.*204C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 204 | chr9 | 138122203 | |||||
| chr9:138122299
|
C | T | 8 | a0001c0002t0005a0001c0003t0005a0001c0003t0045others(5): Show | 16 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*300C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 300 | chr9 | 138122299 | |||||
| chr9:138122387
|
T | C | 1 | a0001c0002t0033 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*388T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 388 | chr9 | 138122387 | |||||
| chr9:138122465
|
G | A | 1 | a0001c0003t0034 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*466G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 466 | chr9 | 138122465 | |||||
| chr9:138122481
|
G | A | 8 | a0001c0002t0005a0001c0003t0005a0001c0003t0045others(5): Show | 16 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*482G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 482 | chr9 | 138122481 | |||||
| chr9:138122636
|
A | C | 1 | a0009c0021t0019 | 2 | HG02486.hp1 HG03471.hp2 |
3_prime_UTR_variant | MODIFIER | c.*637A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 637 | chr9 | 138122636 | |||||
| chr9:138122694
|
T | C | 1 | a0002c0008t0015 | 2 | NA18964.hp1 NA18971.hp2 |
3_prime_UTR_variant | MODIFIER | c.*695T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 695 | chr9 | 138122694 | |||||
| chr9:138122759
|
C | T | 7 | a0001c0002t0004a0001c0003t0034a0001c0005t0004others(4): Show | 23 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*760C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 760 | chr9 | 138122759 | |||||
| chr9:138122788
|
C | T | 17 | a0001c0002t0001a0001c0002t0021a0001c0002t0030others(14): Show | 60 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(57): Show |
3_prime_UTR_variant | MODIFIER | c.*789C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 789 | chr9 | 138122788 | |||||
| chr9:138122789
|
G | A | 2 | a0001c0017t0016a0018c0046t0016 | 2 | HG02970.hp2 HG03225.hp2 |
3_prime_UTR_variant | MODIFIER | c.*790G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 790 | chr9 | 138122789 | |||||
| chr9:138122891
|
C | T | 21 | a0001c0002t0002a0001c0012t0002a0001c0015t0002others(18): Show | 51 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*892C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 892 | chr9 | 138122891 | |||||
| chr9:138122892
|
G | A | 2 | a0008c0019t0017a0008c0019t0025 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
3_prime_UTR_variant | MODIFIER | c.*893G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 893 | chr9 | 138122892 | |||||
| chr9:138122900
|
C | T | 83 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(80): Show | 194 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(191): Show |
3_prime_UTR_variant | MODIFIER | c.*901C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 901 | chr9 | 138122900 | |||||
| chr9:138123110
|
A | G | 11 | a0001c0002t0005a0001c0002t0011a0001c0003t0005others(8): Show | 20 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*1111A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1111 | chr9 | 138123110 | |||||
| chr9:138123137
|
AG | A | 11 | a0001c0002t0005a0001c0002t0011a0001c0003t0005others(8): Show | 20 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*1139delG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1139 | chr9 | 138123137 | |||||
| chr9:138123239
|
A | G | 12 | a0001c0002t0004a0001c0002t0013a0001c0003t0034others(9): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*1240A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1240 | chr9 | 138123239 | |||||
| chr9:138123317
|
G | A | 2 | a0008c0019t0017a0008c0019t0025 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1318G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1318 | chr9 | 138123317 | |||||
| chr9:138123405
|
G | T | 1 | a0002c0001t0041 | 1 | HG02647.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1406G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1406 | chr9 | 138123405 | |||||
| chr9:138123517
|
C | T | 18 | a0001c0002t0001a0001c0002t0021a0001c0002t0030others(15): Show | 61 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(58): Show |
3_prime_UTR_variant | MODIFIER | c.*1518C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1518 | chr9 | 138123517 | |||||
| chr9:138123527
|
A | T | 7 | a0001c0002t0004a0001c0003t0034a0001c0005t0004others(4): Show | 23 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*1528A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1528 | chr9 | 138123527 | |||||
| chr9:138123560
|
A | ATG | 3 | a0005c0039t0032a0008c0019t0017a0008c0019t0025 | 4 | HG03139.hp1 NA19056.hp2 NA19060.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1589_*1590dupGT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1591 | INFO_REALIGN_3_PRIME | chr9 | 138123560 | ||||
| chr9:138123560
|
ATG | A | 60 | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(57): Show | 159 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*1589_*1590delGT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1589 | INFO_REALIGN_3_PRIME | chr9 | 138123560 | ||||
| chr9:138123560
|
ATGTG | A | 15 | a0001c0002t0004a0001c0003t0007a0001c0003t0010others(12): Show | 39 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(36): Show |
3_prime_UTR_variant | MODIFIER | c.*1587_*1590delGTGT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1587 | INFO_REALIGN_3_PRIME | chr9 | 138123560 | ||||
| chr9:138123560
|
ATGTGTGT others(1): Show |
A | 14 | a0001c0002t0005a0001c0002t0011a0001c0003t0005others(11): Show | 23 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*1583_*1590delGTGT others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1583 | INFO_REALIGN_3_PRIME | chr9 | 138123560 | ||||
| chr9:138123692
|
CACACAAG others(28): Show |
C | 1 | a0002c0004t0026 | 1 | NA18939.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1694_*1728delACAC others(31): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1694 | chr9 | 138123692 | |||||
| chr9:138123971
|
C | T | 10 | a0001c0002t0005a0001c0002t0011a0001c0003t0005others(7): Show | 19 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1972C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1972 | chr9 | 138123971 | |||||
| chr9:138124032
|
A | T | 3 | a0001c0003t0010a0002c0010t0010a0009c0021t0010 | 6 | HG02559.hp1 HG02647.hp2 HG02895.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2033A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2033 | chr9 | 138124032 | |||||
| chr9:138124086
|
C | T | 1 | a0003c0006t0039 | 1 | HG04204.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2087C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2087 | chr9 | 138124086 | |||||
| chr9:138124230
|
C | G | 5 | a0001c0013t0009a0001c0013t0027a0001c0015t0009others(2): Show | 7 | HG02683.hp1 HG02896.hp2 HG03492.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2231C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2231 | chr9 | 138124230 | |||||
| chr9:138124244
|
G | A | 5 | a0001c0003t0007a0001c0051t0007a0002c0004t0007others(2): Show | 10 | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2245G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2245 | chr9 | 138124244 | |||||
| chr9:138124423
|
TA | T | 16 | a0001c0002t0004a0001c0002t0037a0001c0003t0034others(13): Show | 33 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(30): Show |
3_prime_UTR_variant | MODIFIER | c.*2438delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2438 | INFO_REALIGN_3_PRIME | chr9 | 138124423 | ||||
| chr9:138124423
|
TAA | T | 6 | a0001c0003t0007a0001c0051t0007a0002c0004t0007others(3): Show | 11 | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*2437_*2438delAA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2437 | INFO_REALIGN_3_PRIME | chr9 | 138124423 | ||||
| chr9:138124450
|
C | A | 1 | a0002c0010t0012 | 3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2451C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 2451 | chr9 | 138124450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:137878341
|
G | C | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.284+124G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137878341 | ||||||
| chr9:137878839
|
C | G | 19 | a0003c0006t0001g0147a0003c0006t0001g0150a0003c0006t0002g0138others(16): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.285-215C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137878839 | ||||||
| chr9:137878901
|
C | T | 1 | a0001c0005t0004g0137 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.285-153C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137878901 | ||||||
| chr9:137878910
|
T | G | 245 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(242): Show | 245 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(242): Show |
intron_variant | MODIFIER | c.285-144T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137878910 | ||||||
| chr9:137878914
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.285-140G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137878914 | ||||||
| chr9:137879005
|
C | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.285-49C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1/46 | chr9 | 137879005 | ||||||
| chr9:137879312
|
C | G | 19 | a0003c0006t0001g0147a0003c0006t0001g0150a0003c0006t0002g0138others(16): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.390+153C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879312 | ||||||
| chr9:137879360
|
G | A | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.390+201G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879360 | ||||||
| chr9:137879603
|
C | T | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.390+444C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879603 | ||||||
| chr9:137879738
|
T | C | 1 | a0002c0001t0002g0157 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.390+579T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879738 | ||||||
| chr9:137879819
|
T | A | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.390+660T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879819 | ||||||
| chr9:137879826
|
A | T | 9 | a0001c0002t0013g0128a0001c0003t0005g0006a0001c0003t0005g0130others(6): Show | 9 | HG02451.hp1 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.390+667A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879826 | ||||||
| chr9:137879944
|
C | T | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.390+785C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137879944 | ||||||
| chr9:137880028
|
G | A | 2 | a0003c0006t0002g0138a0003c0006t0002g0139 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.390+869G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880028 | ||||||
| chr9:137880269
|
T | C | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.390+1110T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880269 | ||||||
| chr9:137880310
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.390+1151A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880310 | ||||||
| chr9:137880477
|
G | A | 4 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0025t0022g0010others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.390+1318G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880477 | ||||||
| chr9:137880559
|
G | T | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.390+1400G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880559 | ||||||
| chr9:137880624
|
T | C | 1 | a0001c0002t0013g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.390+1465T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880624 | ||||||
| chr9:137880650
|
G | A | 4 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0025t0022g0010others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.390+1491G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880650 | ||||||
| chr9:137880767
|
A | G | 1 | a0001c0002t0001g0123 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.390+1608A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880767 | ||||||
| chr9:137880877
|
C | T | 1 | a0001c0017t0006g0122 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.390+1718C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137880877 | ||||||
| chr9:137881210
|
C | A | 1 | a0001c0013t0014g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.391-1534C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881210 | ||||||
| chr9:137881265
|
C | T | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.391-1479C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881265 | ||||||
| chr9:137881395
|
G | C | 1 | a0002c0001t0002g0159 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.391-1349G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881395 | ||||||
| chr9:137881672
|
G | A | 4 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0025t0022g0010others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.391-1072G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881672 | ||||||
| chr9:137881715
|
T | C | 8 | a0002c0001t0001g0163a0002c0001t0001g0165a0002c0001t0001g0166others(5): Show | 8 | HG00280.hp1 HG00323.hp1 HG01069.hp1 others(5): Show |
intron_variant | MODIFIER | c.391-1029T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881715 | ||||||
| chr9:137881773
|
C | T | 1 | a0001c0002t0030g0120 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.391-971C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137881773 | ||||||
| chr9:137882259
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.391-485A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882259 | ||||||
| chr9:137882373
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.391-371G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882373 | ||||||
| chr9:137882470
|
G | A | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.391-274G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882470 | ||||||
| chr9:137882526
|
G | A | 28 | a0001c0003t0005g0016a0001c0003t0005g0021a0002c0004t0001g0014others(25): Show | 28 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.391-218G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882526 | ||||||
| chr9:137882620
|
G | A | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.391-124G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882620 | ||||||
| chr9:137882621
|
A | G | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.391-123A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882621 | ||||||
| chr9:137882653
|
A | C | 56 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0003t0005g0006others(53): Show | 56 | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.391-91A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882653 | ||||||
| chr9:137882733
|
G | A | 2 | a0001c0015t0009g0080a0001c0015t0009g0081 | 2 | HG03492.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.391-11G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2/46 | chr9 | 137882733 | ||||||
| chr9:137882918
|
A | C | 98 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0003t0005g0006others(95): Show | 98 | HG00323.hp2 HG00438.hp2 HG00597.hp1 others(95): Show |
intron_variant | MODIFIER | c.530+35A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137882918 | ||||||
| chr9:137883007
|
T | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+124T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883007 | ||||||
| chr9:137883018
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+135G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883018 | ||||||
| chr9:137883092
|
T | C | 28 | a0001c0003t0005g0016a0001c0003t0005g0021a0002c0004t0001g0014others(25): Show | 28 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.530+209T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883092 | ||||||
| chr9:137883095
|
C | T | 19 | a0003c0006t0001g0147a0003c0006t0001g0150a0003c0006t0002g0138others(16): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.530+212C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883095 | ||||||
| chr9:137883143
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+260G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883143 | ||||||
| chr9:137883361
|
T | C | 1 | a0004c0054t0008g0013 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.530+478T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883361 | ||||||
| chr9:137883488
|
A | G | 4 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0025t0022g0010others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.530+605A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883488 | ||||||
| chr9:137883555
|
G | C | 3 | a0002c0033t0001g0161a0005c0024t0011g0160a0005c0024t0011g0162 | 3 | HG01099.hp1 HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.530+672G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883555 | ||||||
| chr9:137883674
|
G | C | 19 | a0003c0006t0001g0147a0003c0006t0001g0150a0003c0006t0002g0138others(16): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.530+791G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883674 | ||||||
| chr9:137883676
|
G | A | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02486.hp1 HG02647.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.530+793G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883676 | ||||||
| chr9:137883778
|
A | T | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.530+895A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883778 | ||||||
| chr9:137883785
|
C | T | 2 | a0001c0003t0005g0021a0005c0038t0023g0020 | 2 | HG03209.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.530+902C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883785 | ||||||
| chr9:137883828
|
A | G | 5 | a0001c0003t0006g0136a0001c0003t0007g0118a0001c0017t0016g0119others(2): Show | 5 | HG03041.hp2 HG03098.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.530+945A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883828 | ||||||
| chr9:137883863
|
C | G | 1 | a0001c0007t0003g0074 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.530+980C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883863 | ||||||
| chr9:137883864
|
A | G | 1 | a0001c0007t0003g0074 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.530+981A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137883864 | ||||||
| chr9:137884238
|
C | A | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02486.hp1 HG02647.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.530+1355C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884238 | ||||||
| chr9:137884302
|
GCACGGCC others(43): Show |
G | 1 | a0002c0011t0002g0244 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.530+1467_530+1516d others(52): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137884302 | |||||
| chr9:137884566
|
G | A | 19 | a0003c0006t0001g0147a0003c0006t0001g0150a0003c0006t0002g0138others(16): Show | 19 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.530+1683G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884566 | ||||||
| chr9:137884600
|
A | G | 1 | a0002c0010t0005g0243 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.530+1717A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884600 | ||||||
| chr9:137884633
|
C | T | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.530+1750C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884633 | ||||||
| chr9:137884721
|
C | G | 14 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0023t0008g0077others(11): Show | 14 | HG01261.hp2 HG02486.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.530+1838C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884721 | ||||||
| chr9:137884820
|
C | T | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.530+1937C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884820 | ||||||
| chr9:137884957
|
T | TC | 45 | a0001c0002t0001g0063a0001c0002t0001g0064a0001c0002t0001g0103others(42): Show | 45 | HG00609.hp1 HG00609.hp2 HG01099.hp1 others(42): Show |
intron_variant | MODIFIER | c.530+2085dupC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137884957 | |||||
| chr9:137884957
|
T | TCC | 17 | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0002t0001g0060others(14): Show | 17 | HG00438.hp2 HG00673.hp2 HG02040.hp1 others(14): Show |
intron_variant | MODIFIER | c.530+2084_530+2085d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137884957 | |||||
| chr9:137884957
|
T | TCCC | 35 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0123others(32): Show | 35 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(32): Show |
intron_variant | MODIFIER | c.530+2083_530+2085d others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137884957 | |||||
| chr9:137884961
|
C | A | 22 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(19): Show | 22 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(19): Show |
intron_variant | MODIFIER | c.530+2078C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884961 | ||||||
| chr9:137884965
|
C | G | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.530+2082C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884965 | ||||||
| chr9:137884966
|
C | CCCT | 12 | a0001c0003t0044g0011a0001c0003t0045g0008a0003c0006t0001g0147others(9): Show | 12 | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(9): Show |
intron_variant | MODIFIER | c.530+2089_530+2091d others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137884966 | |||||
| chr9:137884966
|
C | T | 3 | a0003c0006t0002g0153a0003c0006t0002g0154a0003c0006t0002g0155 | 3 | HG00738.hp1 HG01258.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.530+2083C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884966 | ||||||
| chr9:137884967
|
C | A | 1 | a0001c0050t0040g0129 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.530+2084C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884967 | ||||||
| chr9:137884969
|
T | C | 6 | a0002c0001t0003g0023a0002c0004t0001g0014a0002c0004t0001g0168others(3): Show | 6 | HG00597.hp2 HG02135.hp1 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.530+2086T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884969 | ||||||
| chr9:137884969
|
T | G | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.530+2086T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884969 | ||||||
| chr9:137884972
|
T | A | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.530+2089T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884972 | ||||||
| chr9:137884972
|
T | C | 3 | a0002c0001t0029g0189a0002c0020t0002g0015a0005c0038t0023g0020 | 3 | HG00544.hp1 HG01515.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.530+2089T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884972 | ||||||
| chr9:137884973
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+2090C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137884973 | ||||||
| chr9:137885132
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+2249C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885132 | ||||||
| chr9:137885170
|
C | T | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.530+2287C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885170 | ||||||
| chr9:137885262
|
G | A | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.530+2379G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885262 | ||||||
| chr9:137885291
|
G | A | 3 | a0004c0023t0008g0077a0004c0043t0009g0078a0005c0039t0032g0079 | 3 | HG02896.hp2 HG02976.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.530+2408G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885291 | ||||||
| chr9:137885336
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+2453G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885336 | ||||||
| chr9:137885430
|
A | G | 1 | a0001c0002t0001g0061 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.530+2547A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885430 | ||||||
| chr9:137885568
|
C | T | 4 | a0003c0006t0001g0150a0003c0006t0002g0151a0003c0006t0002g0152others(1): Show | 4 | HG00323.hp2 HG00642.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.530+2685C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885568 | ||||||
| chr9:137885744
|
C | T | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02486.hp1 HG02647.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.530+2861C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885744 | ||||||
| chr9:137885753
|
G | A | 58 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(55): Show | 58 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(55): Show |
intron_variant | MODIFIER | c.530+2870G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885753 | ||||||
| chr9:137885794
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+2911G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885794 | ||||||
| chr9:137885843
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.530+2960G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885843 | ||||||
| chr9:137885921
|
C | T | 5 | a0001c0003t0005g0130a0001c0003t0010g0131a0001c0003t0010g0132others(2): Show | 5 | HG02559.hp1 HG02895.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.530+3038C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137885921 | ||||||
| chr9:137886159
|
C | T | 2 | a0004c0025t0022g0010a0004c0055t0022g0009 | 2 | HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.530+3276C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886159 | ||||||
| chr9:137886205
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+3322C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886205 | ||||||
| chr9:137886268
|
CCTCCAGC others(6): Show |
C | 24 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(21): Show | 24 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(21): Show |
intron_variant | MODIFIER | c.530+3394_530+3406d others(15): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137886268 | |||||
| chr9:137886359
|
G | A | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02486.hp1 HG02647.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.530+3476G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886359 | ||||||
| chr9:137886384
|
C | T | 52 | a0001c0003t0005g0006a0001c0003t0005g0107a0001c0003t0005g0130others(49): Show | 52 | HG00597.hp1 HG00673.hp1 HG01243.hp2 others(49): Show |
intron_variant | MODIFIER | c.530+3501C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886384 | ||||||
| chr9:137886395
|
C | T | 6 | a0001c0003t0006g0136a0001c0003t0007g0118a0001c0017t0006g0122others(3): Show | 6 | HG03041.hp2 HG03098.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.530+3512C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886395 | ||||||
| chr9:137886462
|
TG | T | 17 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(14): Show | 17 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(14): Show |
intron_variant | MODIFIER | c.530+3582delG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137886462 | |||||
| chr9:137886501
|
C | T | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.530+3618C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886501 | ||||||
| chr9:137886572
|
A | C | 1 | a0001c0013t0027g0240 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.530+3689A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886572 | ||||||
| chr9:137886609
|
C | T | 25 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(22): Show | 25 | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.530+3726C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137886609 | ||||||
| chr9:137886682
|
GGGTGGAC others(86): Show |
G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+3813_530+3905d others(95): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137886682 | |||||
| chr9:137887092
|
C | T | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.530+4209C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887092 | ||||||
| chr9:137887105
|
G | A | 7 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(4): Show | 7 | HG01884.hp2 HG02109.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.530+4222G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887105 | ||||||
| chr9:137887128
|
G | A | 2 | a0007c0016t0007g0054a0007c0016t0007g0062 | 2 | HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.530+4245G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887128 | ||||||
| chr9:137887210
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+4327G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887210 | ||||||
| chr9:137887424
|
C | T | 1 | a0002c0001t0002g0188 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.530+4541C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887424 | ||||||
| chr9:137887509
|
G | C | 3 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0137 | 3 | HG00673.hp1 NA19011.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.530+4626G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887509 | ||||||
| chr9:137887546
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+4663C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887546 | ||||||
| chr9:137887579
|
C | G | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.530+4696C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887579 | ||||||
| chr9:137887638
|
C | T | 2 | a0001c0003t0044g0011a0001c0003t0045g0008 | 2 | HG01261.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.530+4755C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887638 | ||||||
| chr9:137887711
|
C | G | 1 | a0002c0004t0005g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.530+4828C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887711 | ||||||
| chr9:137887718
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.530+4835C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887718 | ||||||
| chr9:137887802
|
G | A | 1 | a0001c0007t0003g0027 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.530+4919G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887802 | ||||||
| chr9:137887843
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+4960A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887843 | ||||||
| chr9:137887929
|
C | T | 1 | a0001c0013t0009g0099 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.530+5046C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887929 | ||||||
| chr9:137887933
|
G | T | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.530+5050G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137887933 | ||||||
| chr9:137888011
|
G | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.530+5128G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888011 | ||||||
| chr9:137888012
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+5129G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888012 | ||||||
| chr9:137888035
|
G | A | 4 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0025t0022g0010others(1): Show | 4 | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.530+5152G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888035 | ||||||
| chr9:137888102
|
C | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+5219C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888102 | ||||||
| chr9:137888103
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+5220G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888103 | ||||||
| chr9:137888133
|
G | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+5250G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888133 | ||||||
| chr9:137888169
|
G | A | 61 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(58): Show | 61 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(58): Show |
intron_variant | MODIFIER | c.530+5286G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888169 | ||||||
| chr9:137888307
|
G | A | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(74): Show |
intron_variant | MODIFIER | c.530+5424G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888307 | ||||||
| chr9:137888311
|
A | G | 152 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(149): Show | 152 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(149): Show |
intron_variant | MODIFIER | c.530+5428A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888311 | ||||||
| chr9:137888326
|
C | T | 2 | a0004c0023t0042g0076a0004c0042t0008g0121 | 2 | NA18906.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.530+5443C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888326 | ||||||
| chr9:137888360
|
C | A | 12 | a0001c0003t0044g0011a0001c0003t0045g0008a0004c0023t0008g0077others(9): Show | 12 | HG01261.hp2 HG02486.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.530+5477C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888360 | ||||||
| chr9:137888409
|
C | T | 6 | a0001c0002t0008g0026a0001c0003t0006g0136a0001c0003t0007g0118others(3): Show | 6 | HG03041.hp2 HG03098.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.530+5526C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888409 | ||||||
| chr9:137888457
|
C | T | 4 | a0002c0004t0001g0014a0002c0004t0001g0019a0002c0020t0002g0015others(1): Show | 4 | HG01099.hp2 HG01515.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.530+5574C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888457 | ||||||
| chr9:137888458
|
G | A | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.530+5575G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888458 | ||||||
| chr9:137888722
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.530+5839G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888722 | ||||||
| chr9:137888842
|
G | A | 51 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0003t0005g0006others(48): Show | 51 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.530+5959G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137888842 | ||||||
| chr9:137888930
|
CGGCTCAG others(1891): Show |
C | 3 | a0002c0004t0001g0014a0002c0004t0001g0019a0002c0020t0002g0015 | 3 | HG01099.hp2 HG01515.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.530+6050_530+7947d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137888930 | |||||
| chr9:137888962
|
A | AACAGGTG others(52): Show |
2 | a0003c0006t0002g0152a0004c0054t0008g0013 | 2 | HG00642.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.530+6170_530+6228d others(61): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137888962 | |||||
| chr9:137888962
|
A | AACAGGTG others(170): Show |
6 | a0004c0023t0008g0077a0004c0043t0009g0078a0005c0039t0032g0079others(3): Show | 6 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.530+6169_530+6170i others(179): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137888962 | |||||
| chr9:137888962
|
A | AACAGGTG others(288): Show |
1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.530+6169_530+6170i others(297): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137888962 | |||||
| chr9:137888962
|
A | AACAGGTG others(111): Show |
16 | a0001c0003t0005g0021a0003c0006t0001g0147a0003c0006t0002g0138others(13): Show | 16 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.530+6111_530+6228d others(120): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137888962 | |||||
| chr9:137889053
|
G | T | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.530+6170G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889053 | ||||||
| chr9:137889168
|
G | A | 1 | a0001c0018t0009g0029 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.530+6285G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889168 | ||||||
| chr9:137889312
|
G | T | 3 | a0001c0003t0005g0021a0004c0054t0008g0013a0005c0038t0023g0020 | 3 | HG03209.hp1 HG03486.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.530+6429G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889312 | ||||||
| chr9:137889350
|
C | A | 3 | a0002c0008t0003g0197a0002c0008t0003g0198a0002c0008t0003g0199 | 3 | NA18950.hp2 NA18954.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.530+6467C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889350 | ||||||
| chr9:137889427
|
G | A | 1 | a0002c0001t0003g0023 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.530+6544G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889427 | ||||||
| chr9:137889440
|
C | G | 124 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(121): Show | 124 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(121): Show |
intron_variant | MODIFIER | c.530+6557C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889440 | ||||||
| chr9:137889468
|
C | T | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.530+6585C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889468 | ||||||
| chr9:137889469
|
G | A | 8 | a0003c0006t0001g0147a0003c0006t0002g0138a0003c0006t0002g0139others(5): Show | 8 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.530+6586G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889469 | ||||||
| chr9:137889575
|
G | A | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.530+6692G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889575 | ||||||
| chr9:137889626
|
C | T | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.530+6743C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889626 | ||||||
| chr9:137889872
|
C | A | 1 | a0001c0003t0005g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.530+6989C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889872 | ||||||
| chr9:137889872
|
C | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.530+6989C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889872 | ||||||
| chr9:137889977
|
C | T | 1 | a0001c0002t0004g0073 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.530+7094C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137889977 | ||||||
| chr9:137890182
|
C | T | 2 | a0001c0002t0001g0186a0002c0004t0001g0187 | 2 | HG02056.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.530+7299C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890182 | ||||||
| chr9:137890337
|
G | A | 1 | a0001c0015t0009g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.530+7454G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890337 | ||||||
| chr9:137890453
|
G | A | 1 | a0002c0001t0001g0173 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.530+7570G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890453 | ||||||
| chr9:137890507
|
C | T | 1 | a0002c0008t0018g0237 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.530+7624C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890507 | ||||||
| chr9:137890733
|
G | A | 22 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0005t0004g0028others(19): Show | 22 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(19): Show |
intron_variant | MODIFIER | c.530+7850G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890733 | ||||||
| chr9:137890788
|
G | C | 2 | a0001c0002t0001g0103a0001c0002t0001g0104 | 2 | NA18964.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.530+7905G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890788 | ||||||
| chr9:137890963
|
G | A | 1 | a0004c0055t0022g0009 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.530+8080G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137890963 | ||||||
| chr9:137891220
|
G | A | 3 | a0004c0025t0022g0010a0004c0054t0008g0013a0004c0055t0022g0009 | 3 | HG02615.hp2 HG03486.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.530+8337G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891220 | ||||||
| chr9:137891310
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.530+8427C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891310 | ||||||
| chr9:137891349
|
T | G | 1 | a0002c0020t0002g0200 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.530+8466T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891349 | ||||||
| chr9:137891425
|
G | A | 1 | a0003c0006t0002g0141 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.530+8542G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891425 | ||||||
| chr9:137891545
|
C | G | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(1): Show | 4 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.530+8662C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891545 | ||||||
| chr9:137891597
|
C | T | 1 | a0002c0010t0005g0243 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.530+8714C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891597 | ||||||
| chr9:137891656
|
T | C | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.530+8773T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891656 | ||||||
| chr9:137891758
|
G | A | 28 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0005t0004g0028others(25): Show | 28 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.530+8875G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891758 | ||||||
| chr9:137891773
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+8890C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137891773 | ||||||
| chr9:137892064
|
C | T | 53 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0003t0005g0006others(50): Show | 53 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.530+9181C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892064 | ||||||
| chr9:137892225
|
G | A | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.530+9342G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892225 | ||||||
| chr9:137892466
|
T | C | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.530+9583T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892466 | ||||||
| chr9:137892526
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+9643C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892526 | ||||||
| chr9:137892741
|
G | A | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.530+9858G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892741 | ||||||
| chr9:137892773
|
G | A | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.530+9890G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892773 | ||||||
| chr9:137892903
|
T | C | 1 | a0002c0001t0002g0188 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.530+10020T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137892903 | ||||||
| chr9:137893106
|
G | A | 18 | a0001c0012t0001g0031a0001c0012t0001g0032a0001c0012t0001g0051others(15): Show | 18 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(15): Show |
intron_variant | MODIFIER | c.530+10223G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893106 | ||||||
| chr9:137893178
|
A | G | 5 | a0004c0023t0008g0077a0004c0023t0042g0076a0008c0019t0017g0124others(2): Show | 5 | HG02976.hp1 NA19030.hp1 NA19056.hp2 others(2): Show |
intron_variant | MODIFIER | c.530+10295A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893178 | ||||||
| chr9:137893231
|
CT | C | 73 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(70): Show | 73 | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.530+10366delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137893231 | |||||
| chr9:137893354
|
T | TA | 133 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(130): Show | 133 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(130): Show |
intron_variant | MODIFIER | c.530+10485dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137893354 | |||||
| chr9:137893354
|
T | TAA | 20 | a0001c0002t0013g0128a0001c0012t0001g0031a0001c0012t0001g0032others(17): Show | 20 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.530+10484_530+1048 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137893354 | |||||
| chr9:137893372
|
T | C | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.530+10489T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893372 | ||||||
| chr9:137893395
|
A | C | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.530+10512A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893395 | ||||||
| chr9:137893507
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.530+10624C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893507 | ||||||
| chr9:137893510
|
G | A | 2 | a0004c0043t0009g0078a0005c0039t0032g0079 | 2 | HG02896.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.530+10627G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893510 | ||||||
| chr9:137893512
|
A | G | 155 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(152): Show | 155 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.530+10629A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893512 | ||||||
| chr9:137893549
|
G | C | 8 | a0003c0006t0001g0147a0003c0006t0002g0138a0003c0006t0002g0139others(5): Show | 8 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.530+10666G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893549 | ||||||
| chr9:137893584
|
A | G | 7 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(4): Show | 7 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.530+10701A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893584 | ||||||
| chr9:137893831
|
T | A | 1 | a0002c0001t0002g0211 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.530+10948T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893831 | ||||||
| chr9:137893919
|
CTACT | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+11040_530+1104 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137893919 | |||||
| chr9:137893925
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+11042A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137893925 | ||||||
| chr9:137894041
|
C | T | 3 | a0004c0023t0042g0076a0004c0043t0009g0078a0005c0039t0032g0079 | 3 | HG02896.hp2 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.530+11158C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894041 | ||||||
| chr9:137894224
|
G | T | 3 | a0002c0001t0001g0234a0002c0001t0002g0235a0013c0034t0008g0236 | 3 | HG03834.hp1 NA18612.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.530+11341G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894224 | ||||||
| chr9:137894260
|
G | A | 1 | a0001c0002t0004g0067 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.530+11377G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894260 | ||||||
| chr9:137894302
|
A | AT | 29 | a0001c0002t0001g0060a0001c0002t0001g0064a0001c0003t0005g0016others(26): Show | 29 | HG01243.hp2 HG01261.hp2 HG02145.hp2 others(26): Show |
intron_variant | MODIFIER | c.530+11441dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137894302 | |||||
| chr9:137894302
|
AT | A | 44 | a0001c0002t0001g0212a0001c0002t0005g0024a0001c0002t0008g0241others(41): Show | 44 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.530+11441delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137894302 | |||||
| chr9:137894342
|
C | T | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.530+11459C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894342 | ||||||
| chr9:137894385
|
G | A | 1 | a0002c0004t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.530+11502G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894385 | ||||||
| chr9:137894446
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+11563G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894446 | ||||||
| chr9:137894531
|
C | CT | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+11648_530+1164 others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894531 | ||||||
| chr9:137894533
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+11650C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894533 | ||||||
| chr9:137894569
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.530+11686C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894569 | ||||||
| chr9:137894570
|
G | A | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.530+11687G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894570 | ||||||
| chr9:137894665
|
C | T | 1 | a0002c0001t0002g0211 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.530+11782C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894665 | ||||||
| chr9:137894934
|
G | A | 30 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0107others(27): Show | 30 | HG01243.hp2 HG01261.hp2 HG02145.hp2 others(27): Show |
intron_variant | MODIFIER | c.530+12051G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137894934 | ||||||
| chr9:137895136
|
T | C | 1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.530+12253T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895136 | ||||||
| chr9:137895191
|
G | A | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.530+12308G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895191 | ||||||
| chr9:137895586
|
T | C | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.530+12703T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895586 | ||||||
| chr9:137895670
|
A | G | 8 | a0003c0006t0001g0147a0003c0006t0002g0138a0003c0006t0002g0139others(5): Show | 8 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.530+12787A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895670 | ||||||
| chr9:137895764
|
C | T | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.530+12881C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895764 | ||||||
| chr9:137895813
|
A | G | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.530+12930A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895813 | ||||||
| chr9:137895933
|
T | C | 1 | a0001c0003t0005g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.530+13050T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137895933 | ||||||
| chr9:137896027
|
C | G | 1 | a0002c0004t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.530+13144C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896027 | ||||||
| chr9:137896124
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+13241A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896124 | ||||||
| chr9:137896201
|
T | G | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+13318T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896201 | ||||||
| chr9:137896238
|
C | CA | 23 | a0001c0002t0001g0035a0001c0002t0001g0068a0001c0002t0001g0069others(20): Show | 23 | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(20): Show |
intron_variant | MODIFIER | c.530+13377dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137896238 | |||||
| chr9:137896238
|
CA | C | 17 | a0001c0009t0003g0022a0002c0001t0020g0030a0002c0008t0015g0171others(14): Show | 17 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(14): Show |
intron_variant | MODIFIER | c.530+13377delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137896238 | |||||
| chr9:137896310
|
C | T | 2 | a0004c0043t0009g0078a0005c0039t0032g0079 | 2 | HG02896.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.530+13427C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896310 | ||||||
| chr9:137896382
|
G | T | 1 | a0001c0002t0001g0061 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.530+13499G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896382 | ||||||
| chr9:137896394
|
T | A | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.530+13511T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896394 | ||||||
| chr9:137896682
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.530+13799C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896682 | ||||||
| chr9:137896683
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+13800G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896683 | ||||||
| chr9:137896770
|
G | A | 14 | a0003c0006t0001g0147a0003c0006t0002g0138a0003c0006t0002g0139others(11): Show | 14 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.530+13887G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896770 | ||||||
| chr9:137896782
|
C | T | 5 | a0001c0003t0005g0130a0001c0003t0010g0131a0001c0003t0010g0132others(2): Show | 5 | HG02559.hp1 HG02895.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.530+13899C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137896782 | ||||||
| chr9:137896816
|
CA | C | 132 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(129): Show | 132 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(129): Show |
intron_variant | MODIFIER | c.530+13936delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137896816 | |||||
| chr9:137897025
|
G | C | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.530+14142G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897025 | ||||||
| chr9:137897026
|
C | G | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.530+14143C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897026 | ||||||
| chr9:137897182
|
A | T | 57 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0107others(54): Show | 57 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.530+14299A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897182 | ||||||
| chr9:137897448
|
C | T | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.530+14565C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897448 | ||||||
| chr9:137897521
|
G | A | 55 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(52): Show | 55 | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.530+14638G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897521 | ||||||
| chr9:137897532
|
A | T | 1 | a0001c0002t0008g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.530+14649A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897532 | ||||||
| chr9:137897711
|
C | CTT | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.530+14828_530+1482 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897711 | ||||||
| chr9:137897714
|
T | C | 6 | a0001c0002t0001g0057a0001c0002t0001g0123a0001c0005t0004g0007others(3): Show | 6 | HG02074.hp1 NA18944.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.530+14831T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897714 | ||||||
| chr9:137897742
|
C | T | 11 | a0001c0002t0001g0069a0001c0002t0002g0046a0001c0007t0003g0027others(8): Show | 11 | HG00280.hp2 HG00621.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.530+14859C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137897742 | ||||||
| chr9:137898488
|
C | G | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.531-14692C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137898488 | ||||||
| chr9:137898682
|
A | T | 1 | a0003c0006t0002g0155 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.531-14498A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137898682 | ||||||
| chr9:137898682
|
AT | A | 5 | a0001c0002t0004g0070a0002c0010t0012g0215a0002c0011t0002g0172others(2): Show | 5 | HG02895.hp1 HG02896.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.531-14481delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137898682 | |||||
| chr9:137898840
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-14340C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137898840 | ||||||
| chr9:137898858
|
T | G | 7 | a0001c0044t0005g0239a0002c0010t0010g0204a0004c0029t0036g0206others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.531-14322T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137898858 | ||||||
| chr9:137898871
|
C | T | 2 | a0002c0004t0005g0133a0002c0004t0007g0176 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.531-14309C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137898871 | ||||||
| chr9:137899050
|
G | C | 3 | a0004c0025t0022g0010a0004c0054t0008g0013a0004c0055t0022g0009 | 3 | HG02615.hp2 HG03486.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.531-14130G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899050 | ||||||
| chr9:137899074
|
C | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.531-14106C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899074 | ||||||
| chr9:137899117
|
T | C | 1 | a0009c0021t0019g0003 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.531-14063T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899117 | ||||||
| chr9:137899124
|
G | C | 1 | a0016c0030t0003g0097 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.531-14056G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899124 | ||||||
| chr9:137899516
|
G | A | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.531-13664G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899516 | ||||||
| chr9:137899844
|
G | A | 57 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(54): Show | 57 | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.531-13336G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899844 | ||||||
| chr9:137899993
|
G | A | 30 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0107others(27): Show | 30 | HG01243.hp2 HG01261.hp2 HG02145.hp2 others(27): Show |
intron_variant | MODIFIER | c.531-13187G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137899993 | ||||||
| chr9:137900078
|
C | T | 2 | a0003c0006t0002g0151a0003c0006t0008g0145 | 2 | HG03688.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.531-13102C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900078 | ||||||
| chr9:137900201
|
G | C | 1 | a0001c0005t0004g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.531-12979G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900201 | ||||||
| chr9:137900291
|
A | G | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.531-12889A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900291 | ||||||
| chr9:137900347
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.531-12833G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900347 | ||||||
| chr9:137900507
|
GTCTGTGT others(50): Show |
G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-12671_531-1261 others(61): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137900507 | |||||
| chr9:137900509
|
C | A | 148 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(145): Show | 148 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.531-12671C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900509 | ||||||
| chr9:137900592
|
A | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.531-12588A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900592 | ||||||
| chr9:137900653
|
T | A | 1 | a0019c0045t0007g0117 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.531-12527T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900653 | ||||||
| chr9:137900674
|
A | T | 1 | a0019c0045t0007g0117 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.531-12506A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900674 | ||||||
| chr9:137900723
|
CGTGTGTC others(14): Show |
C | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.531-12446_531-1242 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137900723 | |||||
| chr9:137900871
|
T | C | 151 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(148): Show | 151 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.531-12309T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137900871 | ||||||
| chr9:137901024
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-12156C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901024 | ||||||
| chr9:137901237
|
G | C | 2 | a0002c0020t0002g0200a0002c0020t0002g0216 | 2 | HG02145.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.531-11943G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901237 | ||||||
| chr9:137901274
|
G | T | 1 | a0001c0048t0006g0101 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.531-11906G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901274 | ||||||
| chr9:137901299
|
A | G | 1 | a0002c0020t0002g0200 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.531-11881A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901299 | ||||||
| chr9:137901311
|
C | T | 1 | a0003c0006t0039g0148 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.531-11869C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901311 | ||||||
| chr9:137901632
|
A | G | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.531-11548A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901632 | ||||||
| chr9:137901666
|
A | G | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.531-11514A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137901666 | ||||||
| chr9:137901686
|
A | AT | 5 | a0001c0002t0001g0238a0002c0001t0002g0188a0002c0001t0002g0210others(2): Show | 5 | HG02145.hp1 HG04115.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.531-11473dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137901686 | |||||
| chr9:137901686
|
AT | A | 24 | a0001c0002t0001g0212a0001c0002t0001g0218a0001c0002t0037g0242others(21): Show | 24 | HG00544.hp1 HG01069.hp2 HG01256.hp1 others(21): Show |
intron_variant | MODIFIER | c.531-11473delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137901686 | |||||
| chr9:137901686
|
ATT | A | 27 | a0001c0002t0001g0069a0001c0003t0007g0111a0001c0003t0034g0109others(24): Show | 27 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(24): Show |
intron_variant | MODIFIER | c.531-11474_531-1147 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137901686 | |||||
| chr9:137901686
|
ATTT | A | 111 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(108): Show | 111 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(108): Show |
intron_variant | MODIFIER | c.531-11475_531-1147 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137901686 | |||||
| chr9:137901686
|
ATTTT | A | 12 | a0001c0002t0030g0120a0001c0003t0005g0006a0001c0005t0004g0084others(9): Show | 12 | HG01109.hp2 HG01891.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.531-11476_531-1147 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137901686 | |||||
| chr9:137902250
|
C | T | 14 | a0003c0006t0001g0147a0003c0006t0002g0138a0003c0006t0002g0139others(11): Show | 14 | HG00639.hp1 HG01109.hp1 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.531-10930C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902250 | ||||||
| chr9:137902682
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.531-10498G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902682 | ||||||
| chr9:137902709
|
G | A | 2 | a0002c0004t0001g0017a0002c0004t0001g0018 | 2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.531-10471G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902709 | ||||||
| chr9:137902746
|
T | G | 55 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(52): Show | 55 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.531-10434T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902746 | ||||||
| chr9:137902794
|
G | A | 1 | a0003c0006t0002g0154 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.531-10386G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902794 | ||||||
| chr9:137902870
|
C | G | 4 | a0001c0002t0001g0069a0008c0019t0017g0124a0008c0019t0017g0125others(1): Show | 4 | NA18948.hp2 NA19056.hp2 NA19060.hp2 others(1): Show |
intron_variant | MODIFIER | c.531-10310C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902870 | ||||||
| chr9:137902886
|
C | A | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0043t0009g0078others(1): Show | 4 | HG02896.hp2 HG02976.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.531-10294C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902886 | ||||||
| chr9:137902899
|
T | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.531-10281T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902899 | ||||||
| chr9:137902949
|
C | G | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.531-10231C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137902949 | ||||||
| chr9:137903109
|
A | T | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.531-10071A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903109 | ||||||
| chr9:137903110
|
C | A | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.531-10070C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903110 | ||||||
| chr9:137903158
|
C | T | 1 | a0002c0001t0002g0159 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.531-10022C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903158 | ||||||
| chr9:137903528
|
G | A | 5 | a0001c0044t0005g0239a0004c0029t0036g0206a0009c0021t0010g0004others(2): Show | 5 | HG01109.hp2 HG02486.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.531-9652G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903528 | ||||||
| chr9:137903574
|
A | G | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.531-9606A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903574 | ||||||
| chr9:137903587
|
G | C | 1 | a0001c0002t0001g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.531-9593G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903587 | ||||||
| chr9:137903846
|
G | A | 56 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(53): Show | 56 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.531-9334G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137903846 | ||||||
| chr9:137904007
|
G | A | 138 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(135): Show | 138 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show |
intron_variant | MODIFIER | c.531-9173G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904007 | ||||||
| chr9:137904135
|
C | T | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.531-9045C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904135 | ||||||
| chr9:137904185
|
C | T | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.531-8995C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904185 | ||||||
| chr9:137904318
|
G | GTA | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.531-8854_531-8853d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137904318 | |||||
| chr9:137904352
|
C | CT | 11 | a0002c0001t0001g0214a0002c0001t0002g0210a0002c0001t0002g0228others(8): Show | 11 | HG00621.hp2 HG01243.hp1 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.531-8806dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137904352 | |||||
| chr9:137904352
|
CT | C | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(116): Show |
intron_variant | MODIFIER | c.531-8806delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137904352 | |||||
| chr9:137904352
|
CTT | C | 39 | a0001c0002t0001g0238a0001c0002t0008g0026a0001c0005t0004g0028others(36): Show | 39 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(36): Show |
intron_variant | MODIFIER | c.531-8807_531-8806d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137904352 | |||||
| chr9:137904355
|
T | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.531-8825T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904355 | ||||||
| chr9:137904541
|
T | A | 3 | a0001c0003t0005g0107a0001c0003t0007g0106a0004c0042t0008g0121 | 3 | HG02717.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.531-8639T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904541 | ||||||
| chr9:137904654
|
C | T | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.531-8526C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904654 | ||||||
| chr9:137904716
|
G | A | 1 | a0001c0002t0001g0064 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.531-8464G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904716 | ||||||
| chr9:137904733
|
C | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.531-8447C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137904733 | ||||||
| chr9:137905080
|
C | T | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.531-8100C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905080 | ||||||
| chr9:137905203
|
A | G | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.531-7977A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905203 | ||||||
| chr9:137905224
|
G | C | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.531-7956G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905224 | ||||||
| chr9:137905301
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-7879C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905301 | ||||||
| chr9:137905315
|
T | A | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.531-7865T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905315 | ||||||
| chr9:137905352
|
C | CA | 7 | a0001c0002t0001g0069a0001c0002t0004g0067a0001c0002t0004g0073others(4): Show | 7 | HG00544.hp1 HG01243.hp1 HG02056.hp1 others(4): Show |
intron_variant | MODIFIER | c.531-7812dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137905352 | |||||
| chr9:137905704
|
C | T | 5 | a0001c0044t0005g0239a0004c0029t0036g0206a0009c0021t0010g0004others(2): Show | 5 | HG01109.hp2 HG02486.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.531-7476C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905704 | ||||||
| chr9:137905827
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-7353G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137905827 | ||||||
| chr9:137906143
|
G | C | 4 | a0004c0025t0022g0010a0004c0043t0009g0078a0004c0054t0008g0013others(1): Show | 4 | HG02615.hp2 HG02896.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.531-7037G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906143 | ||||||
| chr9:137906168
|
G | A | 3 | a0002c0001t0001g0165a0002c0001t0002g0167a0002c0001t0038g0164 | 3 | HG00280.hp1 HG00323.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.531-7012G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906168 | ||||||
| chr9:137906387
|
A | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-6793A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906387 | ||||||
| chr9:137906453
|
C | T | 1 | a0002c0001t0002g0159 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.531-6727C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906453 | ||||||
| chr9:137906498
|
G | A | 64 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(61): Show | 64 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.531-6682G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906498 | ||||||
| chr9:137906541
|
C | G | 245 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(242): Show | 245 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(242): Show |
intron_variant | MODIFIER | c.531-6639C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906541 | ||||||
| chr9:137906560
|
T | C | 5 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0043t0009g0078others(2): Show | 5 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.531-6620T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906560 | ||||||
| chr9:137906657
|
C | T | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.531-6523C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137906657 | ||||||
| chr9:137907060
|
C | T | 1 | a0002c0001t0003g0023 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.531-6120C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907060 | ||||||
| chr9:137907087
|
G | A | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.531-6093G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907087 | ||||||
| chr9:137907116
|
G | A | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.531-6064G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907116 | ||||||
| chr9:137907436
|
G | C | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.531-5744G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907436 | ||||||
| chr9:137907532
|
C | G | 3 | a0001c0002t0001g0072a0001c0013t0008g0066a0001c0032t0001g0071 | 3 | HG02015.hp2 NA19000.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.531-5648C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907532 | ||||||
| chr9:137907575
|
G | A | 1 | a0002c0001t0002g0042 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.531-5605G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137907575 | ||||||
| chr9:137908121
|
C | A | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.531-5059C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137908121 | ||||||
| chr9:137908242
|
G | A | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.531-4938G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137908242 | ||||||
| chr9:137908291
|
G | A | 64 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(61): Show | 64 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.531-4889G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137908291 | ||||||
| chr9:137908803
|
T | A | 9 | a0003c0006t0002g0138a0003c0006t0002g0139a0003c0006t0002g0141others(6): Show | 9 | HG00639.hp1 HG01109.hp1 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.531-4377T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137908803 | ||||||
| chr9:137908992
|
C | CT | 13 | a0001c0013t0008g0066a0001c0041t0001g0182a0002c0001t0002g0181others(10): Show | 13 | HG00609.hp2 HG00639.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.531-4173dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | 137908992 | |||||
| chr9:137909020
|
C | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.531-4160C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909020 | ||||||
| chr9:137909034
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-4146A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909034 | ||||||
| chr9:137909053
|
C | T | 10 | a0003c0006t0002g0138a0003c0006t0002g0139a0003c0006t0002g0141others(7): Show | 10 | HG00639.hp1 HG01109.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.531-4127C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909053 | ||||||
| chr9:137909170
|
A | G | 1 | a0007c0016t0007g0054 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.531-4010A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909170 | ||||||
| chr9:137909259
|
G | A | 1 | a0003c0006t0039g0148 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.531-3921G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909259 | ||||||
| chr9:137909431
|
T | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.531-3749T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909431 | ||||||
| chr9:137909700
|
A | G | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.531-3480A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909700 | ||||||
| chr9:137909825
|
C | T | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.531-3355C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909825 | ||||||
| chr9:137909869
|
C | T | 1 | a0001c0002t0030g0120 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.531-3311C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137909869 | ||||||
| chr9:137910132
|
C | G | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.531-3048C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910132 | ||||||
| chr9:137910305
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-2875T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910305 | ||||||
| chr9:137910369
|
G | A | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.531-2811G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910369 | ||||||
| chr9:137910461
|
T | C | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.531-2719T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910461 | ||||||
| chr9:137910677
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-2503C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910677 | ||||||
| chr9:137910890
|
A | C | 6 | a0002c0001t0001g0173a0002c0001t0001g0180a0002c0001t0001g0208others(3): Show | 6 | HG01069.hp2 HG01071.hp1 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.531-2290A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137910890 | ||||||
| chr9:137911231
|
C | A | 31 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(28): Show | 31 | HG01243.hp2 HG01261.hp2 HG02145.hp2 others(28): Show |
intron_variant | MODIFIER | c.531-1949C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911231 | ||||||
| chr9:137911239
|
C | G | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.531-1941C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911239 | ||||||
| chr9:137911285
|
T | C | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.531-1895T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911285 | ||||||
| chr9:137911397
|
A | C | 1 | a0007c0016t0007g0054 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.531-1783A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911397 | ||||||
| chr9:137911718
|
C | T | 1 | a0001c0015t0009g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.531-1462C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911718 | ||||||
| chr9:137911732
|
T | C | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.531-1448T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911732 | ||||||
| chr9:137911827
|
G | A | 2 | a0001c0002t0001g0063a0001c0002t0001g0064 | 2 | NA18982.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.531-1353G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911827 | ||||||
| chr9:137911827
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.531-1353G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911827 | ||||||
| chr9:137911933
|
G | A | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.531-1247G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137911933 | ||||||
| chr9:137912659
|
C | T | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.531-521C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137912659 | ||||||
| chr9:137912922
|
G | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.531-258G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | chr9 | 137912922 | ||||||
| chr9:137913300
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.622+29G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137913300 | ||||||
| chr9:137913347
|
A | G | 1 | a0005c0024t0011g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.622+76A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137913347 | ||||||
| chr9:137913386
|
T | A | 1 | a0002c0004t0005g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.622+115T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137913386 | ||||||
| chr9:137913593
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.622+322C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137913593 | ||||||
| chr9:137913653
|
CTT | C | 75 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(72): Show | 75 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.622+383_622+384del others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137913653 | ||||||
| chr9:137914102
|
T | C | 1 | a0002c0004t0001g0018 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.623-552T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137914102 | ||||||
| chr9:137914321
|
T | C | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.623-333T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137914321 | ||||||
| chr9:137914595
|
C | A | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.623-59C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4/46 | chr9 | 137914595 | ||||||
| chr9:137914819
|
A | T | 1 | a0001c0002t0001g0057 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.775+13A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137914819 | ||||||
| chr9:137914847
|
G | A | 6 | a0002c0001t0002g0157a0002c0001t0002g0178a0002c0001t0002g0181others(3): Show | 6 | HG00621.hp2 NA18963.hp1 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.775+41G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137914847 | ||||||
| chr9:137914985
|
A | T | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.775+179A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137914985 | ||||||
| chr9:137915016
|
G | C | 1 | a0004c0054t0008g0013 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.775+210G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915016 | ||||||
| chr9:137915105
|
C | T | 1 | a0002c0010t0005g0183 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.775+299C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915105 | ||||||
| chr9:137915106
|
G | A | 5 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0043t0009g0078others(2): Show | 5 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.775+300G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915106 | ||||||
| chr9:137915511
|
G | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.775+705G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915511 | ||||||
| chr9:137915551
|
C | T | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.775+745C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915551 | ||||||
| chr9:137915586
|
A | G | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.775+780A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915586 | ||||||
| chr9:137915623
|
T | A | 2 | a0001c0051t0007g0108a0005c0038t0023g0020 | 2 | HG01243.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.775+817T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915623 | ||||||
| chr9:137915633
|
A | C | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.775+827A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915633 | ||||||
| chr9:137915654
|
G | C | 62 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(59): Show | 62 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.775+848G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915654 | ||||||
| chr9:137915793
|
C | T | 1 | a0011c0037t0014g0048 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.775+987C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137915793 | ||||||
| chr9:137915822
|
TA | T | 7 | a0001c0002t0013g0012a0001c0002t0037g0242a0001c0005t0004g0084others(4): Show | 7 | HG01109.hp2 HG01256.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.775+1031delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | 137915822 | |||||
| chr9:137916030
|
A | AT | 74 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(71): Show | 74 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.776-1191dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | 137916030 | |||||
| chr9:137916030
|
A | ATT | 15 | a0001c0002t0011g0052a0001c0013t0009g0203a0001c0013t0027g0240others(12): Show | 15 | HG00738.hp2 HG01099.hp2 HG01433.hp2 others(12): Show |
intron_variant | MODIFIER | c.776-1192_776-1191d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | 137916030 | |||||
| chr9:137916030
|
AT | A | 15 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0015t0002g0102others(12): Show | 15 | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.776-1191delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | 137916030 | |||||
| chr9:137916072
|
G | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.776-1169G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916072 | ||||||
| chr9:137916101
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.776-1140C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916101 | ||||||
| chr9:137916229
|
C | T | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.776-1012C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916229 | ||||||
| chr9:137916349
|
A | T | 2 | a0002c0020t0002g0200a0002c0020t0002g0216 | 2 | HG02145.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.776-892A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916349 | ||||||
| chr9:137916389
|
G | C | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.776-852G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916389 | ||||||
| chr9:137916700
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.776-541G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916700 | ||||||
| chr9:137916725
|
G | C | 143 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(140): Show | 143 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.776-516G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916725 | ||||||
| chr9:137916790
|
T | G | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.776-451T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916790 | ||||||
| chr9:137916821
|
TGGTTTGG others(49): Show |
T | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.776-401_776-346del others(56): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | 137916821 | |||||
| chr9:137916859
|
G | A | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.776-382G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137916859 | ||||||
| chr9:137917046
|
C | T | 1 | a0001c0017t0006g0122 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.776-195C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137917046 | ||||||
| chr9:137917103
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.776-138G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137917103 | ||||||
| chr9:137917232
|
T | C | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.776-9T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | chr9 | 137917232 | ||||||
| chr9:137918032
|
C | T | 1 | a0002c0004t0001g0017 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.966+601C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918032 | ||||||
| chr9:137918038
|
C | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+607C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918038 | ||||||
| chr9:137918131
|
C | G | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+700C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918131 | ||||||
| chr9:137918271
|
G | A | 26 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(23): Show | 26 | HG01261.hp2 HG02145.hp2 HG02257.hp2 others(23): Show |
intron_variant | MODIFIER | c.966+840G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918271 | ||||||
| chr9:137918541
|
C | A | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.966+1110C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918541 | ||||||
| chr9:137918549
|
G | A | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+1118G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918549 | ||||||
| chr9:137918582
|
C | T | 1 | a0002c0008t0018g0237 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.966+1151C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918582 | ||||||
| chr9:137918692
|
C | T | 1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.966+1261C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918692 | ||||||
| chr9:137918897
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+1466A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918897 | ||||||
| chr9:137918960
|
C | A | 1 | a0015c0049t0002g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.966+1529C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137918960 | ||||||
| chr9:137919270
|
G | A | 8 | a0002c0004t0005g0133a0002c0004t0005g0195a0002c0004t0007g0176others(5): Show | 8 | HG02559.hp2 HG02809.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.966+1839G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919270 | ||||||
| chr9:137919403
|
C | T | 1 | a0001c0002t0001g0068 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.966+1972C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919403 | ||||||
| chr9:137919507
|
C | T | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.966+2076C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919507 | ||||||
| chr9:137919508
|
G | A | 7 | a0002c0001t0001g0214a0002c0001t0002g0226a0002c0001t0005g0231others(4): Show | 7 | HG01255.hp2 HG02109.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.966+2077G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919508 | ||||||
| chr9:137919586
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+2155C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919586 | ||||||
| chr9:137919728
|
A | G | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.966+2297A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919728 | ||||||
| chr9:137919848
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+2417G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919848 | ||||||
| chr9:137919856
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+2425A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137919856 | ||||||
| chr9:137920152
|
A | G | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.966+2721A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920152 | ||||||
| chr9:137920252
|
G | A | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+2821G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920252 | ||||||
| chr9:137920346
|
G | A | 10 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0130others(7): Show | 10 | HG01261.hp2 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+2915G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920346 | ||||||
| chr9:137920394
|
G | A | 3 | a0001c0044t0005g0239a0004c0023t0008g0077a0004c0029t0036g0206 | 3 | HG01109.hp2 HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.966+2963G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920394 | ||||||
| chr9:137920680
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+3249T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920680 | ||||||
| chr9:137920691
|
G | A | 27 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.966+3260G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920691 | ||||||
| chr9:137920914
|
T | C | 27 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.966+3483T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920914 | ||||||
| chr9:137920933
|
G | A | 2 | a0002c0010t0012g0215a0002c0010t0012g0233 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.966+3502G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137920933 | ||||||
| chr9:137921049
|
T | TGAG | 246 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(243): Show | 246 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(243): Show |
intron_variant | MODIFIER | c.966+3620_966+3621i others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921049 | |||||
| chr9:137921130
|
G | C | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.966+3699G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921130 | ||||||
| chr9:137921269
|
CGGGAGCA others(50): Show |
C | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.966+3938_966+3994d others(59): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921269 | |||||
| chr9:137921278
|
A | AGTAAAGC others(164): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+3937_966+3938i others(173): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921278 | |||||
| chr9:137921424
|
C | T | 3 | a0001c0003t0007g0111a0001c0003t0007g0114a0020c0052t0006g0115 | 3 | HG02145.hp2 HG02257.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.966+3993C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921424 | ||||||
| chr9:137921456
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+4025T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921456 | ||||||
| chr9:137921460
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4029C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921460 | ||||||
| chr9:137921488
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+4057G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921488 | ||||||
| chr9:137921582
|
A | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+4151A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921582 | ||||||
| chr9:137921589
|
A | ACACCACG others(50): Show |
1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.966+4208_966+4264d others(59): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921589 | |||||
| chr9:137921589
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+4158A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921589 | ||||||
| chr9:137921639
|
C | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+4208C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921639 | ||||||
| chr9:137921640
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+4209T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921640 | ||||||
| chr9:137921643
|
T | C | 6 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.966+4212T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921643 | ||||||
| chr9:137921661
|
A | G | 1 | a0001c0002t0008g0065 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.966+4230A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921661 | ||||||
| chr9:137921704
|
C | T | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4273C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921704 | ||||||
| chr9:137921708
|
A | G | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4277A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921708 | ||||||
| chr9:137921710
|
G | GACCGCAC others(163): Show |
1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4303_966+4304i others(172): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921710 | |||||
| chr9:137921712
|
C | T | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4281C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921712 | ||||||
| chr9:137921714
|
G | A | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4283G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921714 | ||||||
| chr9:137921721
|
A | G | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4290A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921721 | ||||||
| chr9:137921734
|
A | C | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+4303A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921734 | ||||||
| chr9:137921754
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4323C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921754 | ||||||
| chr9:137921761
|
T | C | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4330T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921761 | ||||||
| chr9:137921765
|
G | A | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4334G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921765 | ||||||
| chr9:137921769
|
T | C | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4338T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921769 | ||||||
| chr9:137921771
|
A | G | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4340A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921771 | ||||||
| chr9:137921774
|
C | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4343C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921774 | ||||||
| chr9:137921778
|
G | A | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4347G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921778 | ||||||
| chr9:137921798
|
C | T | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4367C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921798 | ||||||
| chr9:137921802
|
C | T | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4371C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921802 | ||||||
| chr9:137921811
|
C | T | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4380C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921811 | ||||||
| chr9:137921819
|
A | T | 5 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(2): Show | 5 | HG01884.hp1 HG02615.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.966+4388A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921819 | ||||||
| chr9:137921821
|
C | T | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4390C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921821 | ||||||
| chr9:137921822
|
A | G | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4391A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921822 | ||||||
| chr9:137921824
|
G | A | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4393G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921824 | ||||||
| chr9:137921825
|
A | G | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4394A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921825 | ||||||
| chr9:137921830
|
A | G | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4399A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921830 | ||||||
| chr9:137921849
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4418G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921849 | ||||||
| chr9:137921855
|
T | C | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4424T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921855 | ||||||
| chr9:137921857
|
T | C | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4426T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921857 | ||||||
| chr9:137921859
|
T | C | 12 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(9): Show | 12 | HG00738.hp2 HG02486.hp2 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.966+4428T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921859 | ||||||
| chr9:137921860
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4429G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921860 | ||||||
| chr9:137921870
|
A | G | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4439A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921870 | ||||||
| chr9:137921878
|
T | C | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4447T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921878 | ||||||
| chr9:137921879
|
G | A | 9 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.966+4448G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921879 | ||||||
| chr9:137921881
|
A | AGCCGCGC others(50): Show |
1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.966+4481_966+4482i others(59): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921881 | |||||
| chr9:137921881
|
A | G | 10 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(7): Show | 10 | HG00738.hp2 HG02717.hp1 HG03041.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+4450A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921881 | ||||||
| chr9:137921882
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4451G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921882 | ||||||
| chr9:137921883
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4452C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921883 | ||||||
| chr9:137921885
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4454G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921885 | ||||||
| chr9:137921887
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4456G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921887 | ||||||
| chr9:137921927
|
G | A | 12 | a0001c0003t0005g0006a0001c0003t0005g0107a0001c0003t0006g0112others(9): Show | 12 | HG00738.hp2 HG01071.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.966+4496G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921927 | ||||||
| chr9:137921927
|
G | GTCAGCAC others(50): Show |
214 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(211): Show | 214 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.966+4507_966+4508i others(59): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921927 | |||||
| chr9:137921927
|
G | GTCAGCAC others(50): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+4507_966+4508i others(59): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921927 | |||||
| chr9:137921931
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4500G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921931 | ||||||
| chr9:137921938
|
GACCGCAC others(220): Show |
G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4538_966+4764d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137921938 | |||||
| chr9:137921939
|
A | G | 1 | a0003c0006t0001g0147 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.966+4508A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921939 | ||||||
| chr9:137921942
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4511G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921942 | ||||||
| chr9:137921944
|
A | G | 3 | a0003c0006t0001g0147a0005c0024t0011g0160a0005c0024t0011g0162 | 3 | HG01433.hp1 HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+4513A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921944 | ||||||
| chr9:137921969
|
T | C | 2 | a0001c0018t0003g0049a0002c0001t0002g0211 | 2 | HG00738.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.966+4538T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921969 | ||||||
| chr9:137921982
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4551C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921982 | ||||||
| chr9:137921993
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4562G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921993 | ||||||
| chr9:137921997
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4566C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921997 | ||||||
| chr9:137921999
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4568G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137921999 | ||||||
| chr9:137922020
|
A | ATAAAGTG others(106): Show |
1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4594_966+4595i others(115): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137922020 | |||||
| chr9:137922027
|
A | G | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4596A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922027 | ||||||
| chr9:137922052
|
G | T | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+4621G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922052 | ||||||
| chr9:137922054
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4623C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922054 | ||||||
| chr9:137922056
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4625G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922056 | ||||||
| chr9:137922077
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4646G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922077 | ||||||
| chr9:137922083
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4652C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922083 | ||||||
| chr9:137922085
|
T | C | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4654T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922085 | ||||||
| chr9:137922088
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4657G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922088 | ||||||
| chr9:137922140
|
T | C | 12 | a0001c0018t0003g0049a0003c0006t0002g0138a0003c0006t0002g0139others(9): Show | 12 | HG00639.hp1 HG00738.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.966+4709T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922140 | ||||||
| chr9:137922142
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4711C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922142 | ||||||
| chr9:137922166
|
A | G | 11 | a0001c0017t0006g0122a0001c0048t0006g0101a0004c0025t0013g0217others(8): Show | 11 | HG01884.hp1 HG02486.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.966+4735A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922166 | ||||||
| chr9:137922168
|
C | T | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.966+4737C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922168 | ||||||
| chr9:137922169
|
G | A | 3 | a0001c0018t0003g0049a0005c0024t0011g0160a0005c0024t0011g0162 | 3 | HG00738.hp2 HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+4738G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922169 | ||||||
| chr9:137922171
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4740A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922171 | ||||||
| chr9:137922226
|
G | GCACAGCA others(106): Show |
1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.966+4797_966+4798i others(115): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137922226 | |||||
| chr9:137922229
|
A | C | 3 | a0001c0017t0006g0122a0001c0018t0003g0049a0001c0048t0006g0101 | 3 | HG00738.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4798A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922229 | ||||||
| chr9:137922235
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.966+4804C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922235 | ||||||
| chr9:137922253
|
C | T | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4822C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922253 | ||||||
| chr9:137922266
|
T | C | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4835T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922266 | ||||||
| chr9:137922277
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4846A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922277 | ||||||
| chr9:137922310
|
T | C | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4879T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922310 | ||||||
| chr9:137922311
|
G | A | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4880G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922311 | ||||||
| chr9:137922312
|
C | T | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.966+4881C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922312 | ||||||
| chr9:137922315
|
G | A | 88 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(85): Show | 88 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(85): Show |
intron_variant | MODIFIER | c.966+4884G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922315 | ||||||
| chr9:137922601
|
G | C | 1 | a0009c0021t0019g0003 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.966+5170G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922601 | ||||||
| chr9:137922619
|
C | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+5188C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137922619 | ||||||
| chr9:137923007
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+5576A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923007 | ||||||
| chr9:137923157
|
G | A | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.966+5726G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923157 | ||||||
| chr9:137923169
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+5738A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923169 | ||||||
| chr9:137923169
|
AGTATTCC others(13): Show |
A | 2 | a0001c0012t0001g0032a0002c0001t0002g0211 | 2 | NA18994.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.966+5786_966+5805d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923169 | |||||
| chr9:137923216
|
C | T | 1 | a0001c0050t0040g0129 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.966+5785C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923216 | ||||||
| chr9:137923217
|
GTGGTGCC others(53): Show |
G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+5818_966+5877d others(62): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923217 | |||||
| chr9:137923237
|
A | G | 4 | a0002c0008t0003g0198a0002c0008t0003g0199a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 NA18950.hp2 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+5806A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923237 | ||||||
| chr9:137923237
|
ATGGTGCC others(13): Show |
A | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5826_966+5845d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923237 | |||||
| chr9:137923257
|
GTGGTGCC others(13): Show |
G | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.966+5858_966+5877d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923257 | |||||
| chr9:137923269
|
G | A | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5838G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923269 | ||||||
| chr9:137923277
|
A | G | 4 | a0001c0003t0006g0136a0001c0003t0007g0118a0001c0012t0001g0032others(1): Show | 4 | HG03041.hp2 NA18522.hp2 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.966+5846A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923277 | ||||||
| chr9:137923281
|
T | C | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5850T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923281 | ||||||
| chr9:137923282
|
G | T | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5851G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923282 | ||||||
| chr9:137923297
|
A | G | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.966+5866A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923297 | ||||||
| chr9:137923308
|
T | C | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.966+5877T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923308 | ||||||
| chr9:137923309
|
A | G | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.966+5878A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923309 | ||||||
| chr9:137923341
|
T | C | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5910T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923341 | ||||||
| chr9:137923342
|
G | T | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5911G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923342 | ||||||
| chr9:137923349
|
A | G | 6 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(3): Show | 6 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.966+5918A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923349 | ||||||
| chr9:137923361
|
C | T | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5930C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923361 | ||||||
| chr9:137923362
|
T | G | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5931T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923362 | ||||||
| chr9:137923369
|
G | A | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5938G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923369 | ||||||
| chr9:137923369
|
G | GGTATTCC others(33): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+5950_966+5951i others(42): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923369 | |||||
| chr9:137923397
|
G | A | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+5966G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923397 | ||||||
| chr9:137923409
|
A | G | 10 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(7): Show | 10 | HG01884.hp1 HG02486.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+5978A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923409 | ||||||
| chr9:137923417
|
A | G | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.966+5986A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923417 | ||||||
| chr9:137923449
|
GGTATTCC others(13): Show |
G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+6038_966+6057d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137923449 | |||||
| chr9:137923516
|
C | T | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.966+6085C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923516 | ||||||
| chr9:137923669
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+6238A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923669 | ||||||
| chr9:137923859
|
C | T | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.966+6428C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923859 | ||||||
| chr9:137923873
|
C | T | 1 | a0014c0031t0002g0113 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.966+6442C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137923873 | ||||||
| chr9:137924299
|
G | C | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.966+6868G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137924299 | ||||||
| chr9:137924299
|
G | GCCTTCCT others(5): Show |
3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+6874_966+6885d others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137924299 | |||||
| chr9:137924541
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.966+7110C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137924541 | ||||||
| chr9:137924648
|
T | C | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.966+7217T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137924648 | ||||||
| chr9:137925117
|
T | C | 1 | a0001c0002t0030g0120 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.966+7686T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925117 | ||||||
| chr9:137925207
|
G | A | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.966+7776G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925207 | ||||||
| chr9:137925273
|
T | C | 247 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(244): Show | 247 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(244): Show |
intron_variant | MODIFIER | c.966+7842T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925273 | ||||||
| chr9:137925297
|
A | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.966+7866A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925297 | ||||||
| chr9:137925547
|
G | C | 1 | a0002c0001t0002g0042 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.966+8116G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925547 | ||||||
| chr9:137925741
|
G | C | 60 | a0001c0002t0001g0186a0001c0002t0021g0075a0001c0017t0002g0193others(57): Show | 60 | HG00323.hp2 HG00609.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.966+8310G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925741 | ||||||
| chr9:137925747
|
A | AT | 10 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(7): Show | 10 | HG00597.hp2 HG01884.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.966+8329dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137925747 | |||||
| chr9:137925747
|
AT | A | 9 | a0001c0002t0013g0128a0001c0003t0005g0107a0001c0003t0006g0112others(6): Show | 9 | HG02717.hp1 HG03041.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.966+8329delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137925747 | |||||
| chr9:137925805
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+8374C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925805 | ||||||
| chr9:137925892
|
G | A | 4 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(1): Show | 4 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+8461G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925892 | ||||||
| chr9:137925917
|
AT | A | 138 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(135): Show | 138 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show |
intron_variant | MODIFIER | c.966+8504delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137925917 | |||||
| chr9:137925925
|
T | C | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.966+8494T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925925 | ||||||
| chr9:137925967
|
G | A | 1 | a0002c0001t0003g0023 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.966+8536G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137925967 | ||||||
| chr9:137926068
|
C | CT | 60 | a0001c0002t0001g0186a0001c0017t0002g0193a0001c0041t0001g0182others(57): Show | 60 | HG00323.hp2 HG00609.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.966+8655dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137926068 | |||||
| chr9:137926068
|
CT | C | 144 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(141): Show | 144 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.966+8655delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137926068 | |||||
| chr9:137926123
|
T | C | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.966+8692T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926123 | ||||||
| chr9:137926319
|
C | T | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.966+8888C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926319 | ||||||
| chr9:137926360
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+8929G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926360 | ||||||
| chr9:137926393
|
A | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.966+8962A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926393 | ||||||
| chr9:137926556
|
G | A | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.966+9125G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926556 | ||||||
| chr9:137926959
|
C | T | 1 | a0011c0037t0014g0048 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.966+9528C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926959 | ||||||
| chr9:137926972
|
T | C | 4 | a0001c0002t0008g0026a0001c0002t0008g0053a0005c0024t0011g0160others(1): Show | 4 | HG02109.hp2 HG02486.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+9541T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137926972 | ||||||
| chr9:137927017
|
A | G | 1 | a0001c0007t0003g0047 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.966+9586A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927017 | ||||||
| chr9:137927245
|
CT | C | 237 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(234): Show | 237 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(234): Show |
intron_variant | MODIFIER | c.966+9829delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137927245 | |||||
| chr9:137927245
|
CTT | C | 7 | a0001c0002t0037g0242a0001c0053t0028g0105a0002c0001t0002g0055others(4): Show | 7 | HG01256.hp1 HG02040.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.966+9828_966+9829d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137927245 | |||||
| chr9:137927249
|
T | A | 1 | a0002c0010t0005g0243 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.966+9818T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927249 | ||||||
| chr9:137927450
|
C | T | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+10019C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927450 | ||||||
| chr9:137927468
|
C | G | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.966+10037C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927468 | ||||||
| chr9:137927651
|
T | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+10220T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927651 | ||||||
| chr9:137927695
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+10264T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927695 | ||||||
| chr9:137927927
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+10496G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137927927 | ||||||
| chr9:137928134
|
T | C | 93 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(90): Show | 93 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(90): Show |
intron_variant | MODIFIER | c.966+10703T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928134 | ||||||
| chr9:137928166
|
T | C | 162 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(159): Show | 162 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(159): Show |
intron_variant | MODIFIER | c.966+10735T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928166 | ||||||
| chr9:137928540
|
C | T | 1 | a0003c0006t0002g0154 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.966+11109C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928540 | ||||||
| chr9:137928662
|
T | C | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+11231T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928662 | ||||||
| chr9:137928782
|
C | T | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.966+11351C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928782 | ||||||
| chr9:137928806
|
T | G | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+11375T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928806 | ||||||
| chr9:137928838
|
A | G | 6 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.966+11407A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928838 | ||||||
| chr9:137928909
|
G | A | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.966+11478G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137928909 | ||||||
| chr9:137929091
|
G | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.966+11660G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929091 | ||||||
| chr9:137929270
|
C | A | 4 | a0001c0003t0010g0131a0001c0003t0010g0132a0001c0003t0010g0134others(1): Show | 4 | HG02559.hp1 HG02895.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+11839C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929270 | ||||||
| chr9:137929368
|
C | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.966+11937C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929368 | ||||||
| chr9:137929488
|
G | A | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.966+12057G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929488 | ||||||
| chr9:137929561
|
A | G | 2 | a0001c0002t0001g0057a0001c0002t0001g0123 | 2 | NA18944.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.966+12130A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929561 | ||||||
| chr9:137929734
|
C | T | 1 | a0001c0002t0004g0067 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.966+12303C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929734 | ||||||
| chr9:137929820
|
A | T | 3 | a0001c0044t0005g0239a0004c0029t0036g0206a0005c0038t0023g0020 | 3 | HG01109.hp2 HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.966+12389A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929820 | ||||||
| chr9:137929897
|
T | C | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.966+12466T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137929897 | ||||||
| chr9:137930028
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+12597C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930028 | ||||||
| chr9:137930161
|
G | A | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+12730G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930161 | ||||||
| chr9:137930176
|
C | T | 1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.966+12745C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930176 | ||||||
| chr9:137930196
|
A | G | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.966+12765A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930196 | ||||||
| chr9:137930214
|
T | C | 28 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(25): Show | 28 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.966+12783T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930214 | ||||||
| chr9:137930290
|
T | C | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.966+12859T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930290 | ||||||
| chr9:137930577
|
C | T | 10 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0130others(7): Show | 10 | HG01261.hp2 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+13146C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930577 | ||||||
| chr9:137930818
|
C | A | 1 | a0002c0001t0002g0042 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.966+13387C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137930818 | ||||||
| chr9:137931031
|
C | T | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.966+13600C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137931031 | ||||||
| chr9:137931249
|
CAA | C | 10 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0130others(7): Show | 10 | HG01261.hp2 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.966+13819_966+1382 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137931249 | ||||||
| chr9:137931331
|
A | C | 3 | a0001c0003t0034g0109a0001c0051t0007g0108a0001c0053t0028g0105 | 3 | HG01243.hp2 HG03486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.966+13900A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137931331 | ||||||
| chr9:137931430
|
G | C | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.966+13999G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137931430 | ||||||
| chr9:137931663
|
A | AT | 6 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.966+14234dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137931663 | |||||
| chr9:137931872
|
G | A | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.966+14441G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137931872 | ||||||
| chr9:137932051
|
T | A | 6 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(3): Show | 6 | HG02717.hp1 HG03041.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.966+14620T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932051 | ||||||
| chr9:137932059
|
C | A | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.966+14628C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932059 | ||||||
| chr9:137932327
|
A | G | 161 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(158): Show | 161 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(158): Show |
intron_variant | MODIFIER | c.966+14896A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932327 | ||||||
| chr9:137932396
|
G | A | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.966+14965G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932396 | ||||||
| chr9:137932601
|
C | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.966+15170C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932601 | ||||||
| chr9:137932851
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.966+15420C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932851 | ||||||
| chr9:137932857
|
C | T | 1 | a0002c0001t0001g0180 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.966+15426C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137932857 | ||||||
| chr9:137932935
|
AT | A | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.966+15507delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137932935 | |||||
| chr9:137933078
|
G | A | 1 | a0001c0005t0004g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.966+15647G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933078 | ||||||
| chr9:137933089
|
C | T | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.966+15658C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933089 | ||||||
| chr9:137933298
|
G | A | 1 | a0003c0006t0002g0138 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.966+15867G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933298 | ||||||
| chr9:137933341
|
G | A | 4 | a0002c0001t0001g0165a0002c0001t0001g0166a0002c0001t0002g0167others(1): Show | 4 | HG00280.hp1 HG00323.hp1 HG01069.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+15910G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933341 | ||||||
| chr9:137933428
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.966+15997T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933428 | ||||||
| chr9:137933674
|
A | C | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.966+16243A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933674 | ||||||
| chr9:137933868
|
C | T | 1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.966+16437C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933868 | ||||||
| chr9:137933968
|
G | A | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.966+16537G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137933968 | ||||||
| chr9:137934326
|
G | A | 3 | a0001c0003t0007g0111a0001c0003t0007g0114a0020c0052t0006g0115 | 3 | HG02145.hp2 HG02257.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.966+16895G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934326 | ||||||
| chr9:137934494
|
T | C | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.966+17063T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934494 | ||||||
| chr9:137934686
|
C | T | 147 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(144): Show | 147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.966+17255C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934686 | ||||||
| chr9:137934769
|
A | G | 1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.966+17338A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934769 | ||||||
| chr9:137934853
|
T | C | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-17421T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934853 | ||||||
| chr9:137934923
|
T | A | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.967-17351T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137934923 | ||||||
| chr9:137935111
|
T | C | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-17163T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935111 | ||||||
| chr9:137935128
|
G | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.967-17146G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935128 | ||||||
| chr9:137935151
|
G | A | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.967-17123G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935151 | ||||||
| chr9:137935164
|
G | GCATATGT others(14): Show |
1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.967-17090_967-1708 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137935164 | |||||
| chr9:137935202
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.967-17072G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935202 | ||||||
| chr9:137935324
|
A | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.967-16950A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935324 | ||||||
| chr9:137935349
|
C | T | 1 | a0001c0002t0011g0052 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.967-16925C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935349 | ||||||
| chr9:137935613
|
A | G | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.967-16661A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935613 | ||||||
| chr9:137935732
|
G | A | 1 | a0004c0055t0022g0009 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.967-16542G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935732 | ||||||
| chr9:137935855
|
G | A | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.967-16419G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137935855 | ||||||
| chr9:137936018
|
G | A | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-16256G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936018 | ||||||
| chr9:137936034
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-16240T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936034 | ||||||
| chr9:137936104
|
G | A | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.967-16170G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936104 | ||||||
| chr9:137936139
|
G | A | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.967-16135G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936139 | ||||||
| chr9:137936148
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-16126C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936148 | ||||||
| chr9:137936152
|
C | T | 1 | a0001c0002t0013g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.967-16122C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936152 | ||||||
| chr9:137936179
|
G | A | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.967-16095G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936179 | ||||||
| chr9:137936213
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-16061T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936213 | ||||||
| chr9:137936776
|
G | A | 1 | a0003c0006t0001g0147 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.967-15498G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936776 | ||||||
| chr9:137936916
|
C | T | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-15358C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137936916 | ||||||
| chr9:137937015
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.967-15259G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937015 | ||||||
| chr9:137937284
|
T | C | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.967-14990T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937284 | ||||||
| chr9:137937406
|
A | G | 92 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(89): Show | 92 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.967-14868A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937406 | ||||||
| chr9:137937543
|
G | A | 1 | a0001c0005t0004g0086 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.967-14731G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937543 | ||||||
| chr9:137937721
|
G | A | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.967-14553G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937721 | ||||||
| chr9:137937879
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.967-14395G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137937879 | ||||||
| chr9:137937947
|
C | CA | 16 | a0001c0013t0027g0240a0002c0001t0001g0166a0002c0001t0001g0208others(13): Show | 16 | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.967-14296dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137937947 | |||||
| chr9:137937947
|
C | CAA | 5 | a0001c0002t0001g0186a0002c0001t0001g0163a0002c0004t0005g0133others(2): Show | 5 | HG02080.hp1 HG03041.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.967-14297_967-1429 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137937947 | |||||
| chr9:137937947
|
CA | C | 30 | a0001c0002t0001g0061a0001c0002t0008g0026a0001c0002t0013g0128others(27): Show | 30 | HG00323.hp2 HG00621.hp1 HG00738.hp2 others(27): Show |
intron_variant | MODIFIER | c.967-14296delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137937947 | |||||
| chr9:137937947
|
CAA | C | 91 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(88): Show | 91 | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(88): Show |
intron_variant | MODIFIER | c.967-14297_967-1429 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137937947 | |||||
| chr9:137937947
|
CAAA | C | 13 | a0001c0002t0001g0069a0001c0002t0004g0070a0001c0002t0030g0120others(10): Show | 13 | HG01256.hp1 HG03041.hp2 HG03209.hp1 others(10): Show |
intron_variant | MODIFIER | c.967-14298_967-1429 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137937947 | |||||
| chr9:137938352
|
T | A | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-13922T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938352 | ||||||
| chr9:137938397
|
T | C | 1 | a0002c0011t0002g0192 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.967-13877T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938397 | ||||||
| chr9:137938652
|
A | T | 1 | a0001c0007t0003g0044 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.967-13622A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938652 | ||||||
| chr9:137938838
|
C | T | 4 | a0003c0006t0001g0150a0003c0006t0002g0151a0003c0006t0002g0152others(1): Show | 4 | HG00323.hp2 HG00642.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.967-13436C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938838 | ||||||
| chr9:137938987
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-13287C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938987 | ||||||
| chr9:137938988
|
G | A | 5 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0022t0002g0001others(2): Show | 5 | HG00438.hp2 NA18939.hp2 NA18944.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-13286G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137938988 | ||||||
| chr9:137939045
|
G | A | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-13229G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939045 | ||||||
| chr9:137939051
|
C | T | 1 | a0001c0002t0001g0072 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.967-13223C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939051 | ||||||
| chr9:137939061
|
T | C | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-13213T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939061 | ||||||
| chr9:137939139
|
A | C | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.967-13135A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939139 | ||||||
| chr9:137939314
|
C | T | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.967-12960C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939314 | ||||||
| chr9:137939358
|
C | T | 1 | a0002c0008t0003g0170 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.967-12916C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939358 | ||||||
| chr9:137939491
|
C | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-12783C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939491 | ||||||
| chr9:137939735
|
G | A | 1 | a0001c0005t0004g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.967-12539G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939735 | ||||||
| chr9:137939759
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-12515C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939759 | ||||||
| chr9:137939798
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.967-12476G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939798 | ||||||
| chr9:137939803
|
A | AAAAT | 14 | a0001c0002t0021g0075a0001c0005t0004g0098a0001c0015t0009g0081others(11): Show | 14 | HG00621.hp2 HG00639.hp1 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.967-12427_967-1242 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939803 | |||||
| chr9:137939803
|
A | AAAATAAA others(1): Show |
3 | a0002c0008t0015g0169a0002c0008t0015g0171a0002c0056t0002g0245 | 3 | HG02698.hp1 NA18964.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.967-12431_967-1242 others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939803 | |||||
| chr9:137939835
|
TAAATAAA others(9): Show |
T | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.967-12435_967-1242 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939835 | |||||
| chr9:137939839
|
TAAATAAA others(5): Show |
T | 6 | a0001c0018t0003g0049a0006c0014t0006g0140a0006c0026t0006g0144others(3): Show | 6 | HG00738.hp2 HG01891.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-12431_967-1242 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939839 | |||||
| chr9:137939843
|
TAAATAAA others(1): Show |
T | 92 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(89): Show | 92 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.967-12427_967-1242 others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939843 | |||||
| chr9:137939847
|
T | A | 1 | a0003c0006t0002g0154 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.967-12427T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939847 | ||||||
| chr9:137939847
|
TAAAA | T | 37 | a0001c0002t0005g0024a0001c0002t0013g0012a0001c0002t0013g0128others(34): Show | 37 | HG00438.hp1 HG00642.hp1 HG00673.hp1 others(34): Show |
intron_variant | MODIFIER | c.967-12421_967-1241 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137939847 | |||||
| chr9:137939851
|
A | T | 27 | a0001c0005t0004g0007a0001c0005t0004g0082a0001c0005t0004g0083others(24): Show | 27 | HG00323.hp2 HG00544.hp1 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.967-12423A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939851 | ||||||
| chr9:137939868
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-12406G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939868 | ||||||
| chr9:137939888
|
C | T | 1 | a0002c0004t0001g0179 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.967-12386C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939888 | ||||||
| chr9:137939964
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-12310G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137939964 | ||||||
| chr9:137940034
|
TCAAACC | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-12231_967-1222 others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137940034 | |||||
| chr9:137940051
|
A | G | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.967-12223A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940051 | ||||||
| chr9:137940213
|
C | A | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.967-12061C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940213 | ||||||
| chr9:137940251
|
C | G | 1 | a0001c0005t0004g0090 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.967-12023C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940251 | ||||||
| chr9:137940509
|
A | T | 1 | a0005c0024t0011g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.967-11765A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940509 | ||||||
| chr9:137940520
|
A | C | 1 | a0002c0004t0007g0176 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.967-11754A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940520 | ||||||
| chr9:137940762
|
A | G | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-11512A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137940762 | ||||||
| chr9:137941113
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-11161G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137941113 | ||||||
| chr9:137941175
|
A | G | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.967-11099A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137941175 | ||||||
| chr9:137941898
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.967-10376C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137941898 | ||||||
| chr9:137942000
|
G | T | 1 | a0001c0005t0004g0091 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.967-10274G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942000 | ||||||
| chr9:137942034
|
G | A | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.967-10240G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942034 | ||||||
| chr9:137942252
|
T | C | 1 | a0002c0001t0002g0178 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.967-10022T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942252 | ||||||
| chr9:137942624
|
G | GACT | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-9643_967-9641d others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137942624 | |||||
| chr9:137942668
|
A | C | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.967-9606A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942668 | ||||||
| chr9:137942734
|
C | T | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-9540C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942734 | ||||||
| chr9:137942795
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-9479C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942795 | ||||||
| chr9:137942899
|
T | A | 133 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(130): Show | 133 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(130): Show |
intron_variant | MODIFIER | c.967-9375T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942899 | ||||||
| chr9:137942947
|
C | T | 3 | a0001c0003t0005g0021a0001c0003t0044g0011a0001c0003t0045g0008 | 3 | HG01261.hp2 HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.967-9327C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137942947 | ||||||
| chr9:137942968
|
A | AT | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-9297dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137942968 | |||||
| chr9:137943050
|
C | CT | 134 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(131): Show | 134 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(131): Show |
intron_variant | MODIFIER | c.967-9207dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137943050 | |||||
| chr9:137943050
|
CT | C | 8 | a0001c0044t0005g0239a0002c0020t0002g0015a0006c0014t0006g0140others(5): Show | 8 | HG01515.hp1 HG01891.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.967-9207delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137943050 | |||||
| chr9:137943088
|
G | T | 137 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(134): Show | 137 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(134): Show |
intron_variant | MODIFIER | c.967-9186G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137943088 | ||||||
| chr9:137943468
|
G | A | 4 | a0001c0044t0005g0239a0004c0029t0036g0206a0005c0024t0011g0160others(1): Show | 4 | HG01109.hp2 HG02486.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.967-8806G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137943468 | ||||||
| chr9:137943581
|
G | A | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.967-8693G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137943581 | ||||||
| chr9:137943840
|
G | A | 2 | a0002c0001t0003g0023a0004c0023t0042g0076 | 2 | HG04199.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.967-8434G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137943840 | ||||||
| chr9:137944076
|
G | C | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-8198G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137944076 | ||||||
| chr9:137944199
|
CAAG | C | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.967-8071_967-8069d others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137944199 | |||||
| chr9:137944542
|
C | T | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.967-7732C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137944542 | ||||||
| chr9:137944981
|
A | C | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-7293A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137944981 | ||||||
| chr9:137944984
|
G | A | 2 | a0002c0008t0015g0169a0002c0008t0015g0171 | 2 | NA18964.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.967-7290G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137944984 | ||||||
| chr9:137945177
|
T | G | 1 | a0001c0002t0001g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.967-7097T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137945177 | ||||||
| chr9:137945193
|
G | A | 32 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(29): Show | 32 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(29): Show |
intron_variant | MODIFIER | c.967-7081G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137945193 | ||||||
| chr9:137945963
|
C | A | 1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.967-6311C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137945963 | ||||||
| chr9:137946057
|
T | G | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.967-6217T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137946057 | ||||||
| chr9:137946602
|
G | GA | 8 | a0001c0003t0005g0130a0001c0003t0010g0131a0001c0003t0010g0132others(5): Show | 8 | HG01891.hp2 HG02559.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.967-5659dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137946602 | |||||
| chr9:137946616
|
G | A | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.967-5658G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137946616 | ||||||
| chr9:137947300
|
G | A | 6 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.967-4974G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137947300 | ||||||
| chr9:137947398
|
C | T | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.967-4876C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137947398 | ||||||
| chr9:137947426
|
T | G | 122 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(119): Show | 122 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.967-4848T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137947426 | ||||||
| chr9:137947663
|
T | TC | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-4610dupC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137947663 | |||||
| chr9:137947876
|
T | C | 65 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(62): Show | 65 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.967-4398T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137947876 | ||||||
| chr9:137947975
|
C | CT | 91 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(88): Show | 91 | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(88): Show |
intron_variant | MODIFIER | c.967-4276dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137947975 | |||||
| chr9:137947975
|
C | CTT | 8 | a0001c0002t0001g0103a0001c0002t0001g0104a0001c0002t0001g0212others(5): Show | 8 | HG00438.hp2 HG01243.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.967-4277_967-4276d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137947975 | |||||
| chr9:137947975
|
CT | C | 5 | a0002c0001t0001g0222a0002c0001t0002g0178a0008c0019t0017g0124others(2): Show | 5 | HG01256.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-4276delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137947975 | |||||
| chr9:137948156
|
T | C | 1 | a0001c0015t0009g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.967-4118T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948156 | ||||||
| chr9:137948303
|
C | A | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-3971C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948303 | ||||||
| chr9:137948421
|
C | T | 1 | a0002c0008t0018g0237 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.967-3853C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948421 | ||||||
| chr9:137948550
|
G | A | 2 | a0001c0015t0002g0102a0014c0031t0002g0113 | 2 | NA18960.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.967-3724G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948550 | ||||||
| chr9:137948777
|
G | A | 1 | a0003c0006t0001g0150 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.967-3497G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948777 | ||||||
| chr9:137948893
|
T | C | 1 | a0003c0006t0002g0141 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.967-3381T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948893 | ||||||
| chr9:137948907
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-3367G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137948907 | ||||||
| chr9:137948972
|
GTGTC | G | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-3298_967-3295d others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137948972 | |||||
| chr9:137949143
|
C | CTGTGTCT others(346): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-3127_967-3126i others(355): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949143
|
C | CTGTGTCT others(346): Show |
2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.967-3127_967-3126i others(355): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949143
|
C | CTGTGTCT others(343): Show |
1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.967-3127_967-3126i others(352): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949143
|
C | CTGTGTCT others(346): Show |
238 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(235): Show | 238 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(235): Show |
intron_variant | MODIFIER | c.967-3127_967-3126i others(355): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949143
|
C | CTGTGTCT others(346): Show |
2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.967-3127_967-3126i others(355): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949143
|
C | CTGTGTCT others(346): Show |
2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.967-3127_967-3126i others(355): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949143 | |||||
| chr9:137949153
|
G | A | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.967-3121G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949153 | ||||||
| chr9:137949321
|
A | G | 15 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(12): Show | 15 | HG01884.hp1 HG01891.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.967-2953A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949321 | ||||||
| chr9:137949366
|
G | T | 6 | a0002c0001t0001g0173a0002c0001t0001g0180a0002c0001t0001g0208others(3): Show | 6 | HG01069.hp2 HG01071.hp1 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.967-2908G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949366 | ||||||
| chr9:137949421
|
G | A | 1 | a0008c0019t0025g0126 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.967-2853G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949421 | ||||||
| chr9:137949468
|
G | T | 1 | a0003c0006t0002g0155 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.967-2806G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949468 | ||||||
| chr9:137949499
|
ATGTGTGT others(10): Show |
A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-2749_967-2733d others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | 137949499 | |||||
| chr9:137949662
|
T | C | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.967-2612T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949662 | ||||||
| chr9:137949938
|
A | G | 1 | a0002c0004t0001g0179 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.967-2336A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137949938 | ||||||
| chr9:137950017
|
A | G | 245 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(242): Show | 245 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(242): Show |
intron_variant | MODIFIER | c.967-2257A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950017 | ||||||
| chr9:137950021
|
T | C | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.967-2253T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950021 | ||||||
| chr9:137950166
|
C | T | 3 | a0001c0003t0034g0109a0001c0051t0007g0108a0001c0053t0028g0105 | 3 | HG01243.hp2 HG03486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.967-2108C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950166 | ||||||
| chr9:137950283
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.967-1991G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950283 | ||||||
| chr9:137950345
|
C | T | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.967-1929C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950345 | ||||||
| chr9:137950418
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.967-1856G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950418 | ||||||
| chr9:137950512
|
G | A | 1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.967-1762G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950512 | ||||||
| chr9:137950536
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-1738C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950536 | ||||||
| chr9:137950801
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.967-1473C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950801 | ||||||
| chr9:137950824
|
G | C | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.967-1450G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950824 | ||||||
| chr9:137950872
|
C | T | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.967-1402C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137950872 | ||||||
| chr9:137951007
|
C | T | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.967-1267C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951007 | ||||||
| chr9:137951076
|
A | G | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.967-1198A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951076 | ||||||
| chr9:137951109
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-1165G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951109 | ||||||
| chr9:137951146
|
A | G | 2 | a0002c0001t0001g0221a0002c0001t0001g0222 | 2 | HG01256.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.967-1128A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951146 | ||||||
| chr9:137951477
|
G | A | 3 | a0002c0010t0012g0215a0002c0010t0012g0220a0002c0010t0012g0233 | 3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.967-797G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951477 | ||||||
| chr9:137951521
|
C | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.967-753C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951521 | ||||||
| chr9:137951542
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.967-732G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137951542 | ||||||
| chr9:137952103
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.967-171G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952103 | ||||||
| chr9:137952206
|
G | T | 6 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0042t0008g0121others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.967-68G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952206 | ||||||
| chr9:137952223
|
G | A | 3 | a0002c0004t0005g0133a0002c0004t0005g0195a0002c0004t0007g0176 | 3 | HG02559.hp2 NA19043.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.967-51G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952223 | ||||||
| chr9:137952254
|
C | T | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.967-20C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952254 | ||||||
| chr9:137952263
|
C | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.967-11C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952263 | ||||||
| chr9:137952266
|
G | A | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
splice_region_variant&intron_variant | LOW | c.967-8G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | chr9 | 137952266 | ||||||
| chr9:137952504
|
G | A | 63 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(60): Show | 63 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(60): Show |
intron_variant | MODIFIER | c.1070+127G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137952504 | ||||||
| chr9:137952651
|
AGGAGGTG others(33): Show |
A | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.1070+331_1070+370d others(42): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137952651 | |||||
| chr9:137952708
|
A | T | 2 | a0003c0006t0002g0138a0003c0006t0002g0139 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.1070+331A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137952708 | ||||||
| chr9:137952755
|
G | A | 1 | a0001c0002t0005g0024 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1070+378G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137952755 | ||||||
| chr9:137952766
|
T | G | 133 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(130): Show | 133 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(130): Show |
intron_variant | MODIFIER | c.1070+389T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137952766 | ||||||
| chr9:137952898
|
C | T | 133 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(130): Show | 133 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(130): Show |
intron_variant | MODIFIER | c.1070+521C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137952898 | ||||||
| chr9:137953004
|
T | C | 7 | a0001c0044t0005g0239a0004c0029t0036g0206a0005c0024t0011g0160others(4): Show | 7 | HG01109.hp2 HG02486.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1070+627T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953004 | ||||||
| chr9:137953353
|
G | T | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1070+976G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953353 | ||||||
| chr9:137953519
|
T | C | 150 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(147): Show | 150 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1070+1142T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953519 | ||||||
| chr9:137953568
|
C | T | 3 | a0002c0004t0005g0133a0002c0004t0005g0195a0002c0004t0007g0176 | 3 | HG02559.hp2 NA19043.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1070+1191C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953568 | ||||||
| chr9:137953733
|
T | G | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.1070+1356T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953733 | ||||||
| chr9:137953747
|
A | G | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1070+1370A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953747 | ||||||
| chr9:137953991
|
A | G | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1070+1614A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953991 | ||||||
| chr9:137953993
|
C | T | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.1070+1616C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137953993 | ||||||
| chr9:137954056
|
C | T | 1 | a0001c0003t0044g0011 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1071-1642C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954056 | ||||||
| chr9:137954135
|
G | A | 3 | a0001c0003t0034g0109a0001c0051t0007g0108a0001c0053t0028g0105 | 3 | HG01243.hp2 HG03486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1071-1563G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954135 | ||||||
| chr9:137954189
|
G | C | 1 | a0005c0024t0011g0160 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1071-1509G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954189 | ||||||
| chr9:137954286
|
T | C | 1 | a0001c0002t0030g0120 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1071-1412T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954286 | ||||||
| chr9:137954349
|
C | G | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.1071-1349C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954349 | ||||||
| chr9:137954466
|
C | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1071-1232C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954466 | ||||||
| chr9:137954497
|
A | G | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1071-1201A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954497 | ||||||
| chr9:137954566
|
C | T | 92 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(89): Show | 92 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.1071-1132C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954566 | ||||||
| chr9:137954688
|
C | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1071-1010C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954688 | ||||||
| chr9:137954697
|
GCCTGGTC others(4): Show |
G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1071-1000_1071-990 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954697 | ||||||
| chr9:137954784
|
C | T | 2 | a0001c0002t0001g0212a0001c0002t0001g0218 | 2 | NA18947.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1071-914C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954784 | ||||||
| chr9:137954855
|
C | CGTGTGTG others(7): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1071-843_1071-842i others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954855 | ||||||
| chr9:137954855
|
C | CGTGTGTG others(17): Show |
1 | a0001c0002t0008g0065 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1071-843_1071-842i others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954855 | ||||||
| chr9:137954856
|
T | G | 3 | a0001c0002t0008g0065a0005c0024t0011g0160a0005c0024t0011g0162 | 3 | HG02280.hp1 HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1071-842T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954856 | ||||||
| chr9:137954856
|
T | TTGTGTG | 3 | a0001c0044t0005g0239a0004c0029t0036g0206a0021c0027t0024g0149 | 3 | HG01109.hp2 HG02809.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.1071-823_1071-818d others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(1): Show |
3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1071-825_1071-818d others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(3): Show |
4 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0026t0006g0144others(1): Show | 4 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-827_1071-818d others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(5): Show |
6 | a0002c0004t0001g0175a0004c0025t0013g0217a0004c0025t0022g0010others(3): Show | 6 | HG01433.hp2 HG01884.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1071-829_1071-818d others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(7): Show |
8 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(5): Show | 8 | HG01099.hp2 HG02257.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.1071-831_1071-818d others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(9): Show |
8 | a0001c0003t0005g0006a0001c0003t0044g0011a0002c0004t0001g0017others(5): Show | 8 | HG02451.hp1 HG02486.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1071-833_1071-818d others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(11): Show |
11 | a0001c0002t0001g0063a0001c0002t0001g0064a0001c0002t0008g0241others(8): Show | 11 | HG01256.hp1 HG01258.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.1071-835_1071-818d others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(13): Show |
18 | a0001c0002t0030g0120a0001c0003t0005g0016a0001c0003t0005g0021others(15): Show | 18 | HG01243.hp2 HG01261.hp2 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.1071-837_1071-818d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(15): Show |
34 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(31): Show | 34 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(31): Show |
intron_variant | MODIFIER | c.1071-839_1071-818d others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(17): Show |
14 | a0001c0002t0001g0058a0001c0002t0001g0061a0001c0002t0001g0068others(11): Show | 14 | HG00673.hp2 HG02056.hp2 HG03239.hp2 others(11): Show |
intron_variant | MODIFIER | c.1071-841_1071-818d others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(19): Show |
8 | a0001c0002t0001g0212a0001c0002t0001g0218a0001c0002t0008g0053others(5): Show | 8 | HG01515.hp2 HG02109.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1071-818_1071-817i others(28): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954856
|
T | TTGTGTGT others(21): Show |
1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1071-818_1071-817i others(30): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954856 | |||||
| chr9:137954879
|
T | A | 1 | a0002c0001t0002g0226 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1071-819T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954879 | ||||||
| chr9:137954879
|
T | TGTGTGTG others(5): Show |
2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1071-818_1071-817i others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(9): Show |
1 | a0001c0015t0002g0102 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1071-818_1071-817i others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(11): Show |
1 | a0001c0005t0004g0091 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1071-818_1071-817i others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(11): Show |
21 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(18): Show | 21 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.1071-818_1071-817i others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(11): Show |
2 | a0001c0005t0004g0088a0001c0005t0004g0090 | 2 | HG02040.hp2 HG02074.hp2 |
intron_variant | MODIFIER | c.1071-818_1071-817i others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(13): Show |
1 | a0001c0009t0003g0096 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1071-818_1071-817i others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954879
|
T | TGTGTGTG others(17): Show |
1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1071-818_1071-817i others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | 137954879 | |||||
| chr9:137954881
|
A | T | 94 | a0001c0002t0001g0057a0001c0002t0001g0060a0001c0002t0001g0061others(91): Show | 94 | HG00280.hp2 HG00438.hp2 HG00621.hp1 others(91): Show |
intron_variant | MODIFIER | c.1071-817A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954881 | ||||||
| chr9:137954883
|
A | T | 16 | a0001c0002t0004g0067a0001c0012t0001g0031a0001c0012t0001g0051others(13): Show | 16 | HG01099.hp2 HG01433.hp2 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.1071-815A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954883 | ||||||
| chr9:137954885
|
A | T | 4 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050others(1): Show | 4 | HG02080.hp2 HG03209.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-813A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954885 | ||||||
| chr9:137954887
|
A | T | 4 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050others(1): Show | 4 | HG02080.hp2 HG03209.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-811A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954887 | ||||||
| chr9:137954889
|
A | T | 4 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050others(1): Show | 4 | HG02080.hp2 HG03209.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-809A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954889 | ||||||
| chr9:137954891
|
A | T | 4 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050others(1): Show | 4 | HG02080.hp2 HG03209.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-807A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954891 | ||||||
| chr9:137954893
|
A | T | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-805A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954893 | ||||||
| chr9:137954895
|
A | T | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-803A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954895 | ||||||
| chr9:137954897
|
A | T | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-801A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954897 | ||||||
| chr9:137954899
|
A | T | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-799A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954899 | ||||||
| chr9:137954900
|
GA | G | 4 | a0001c0003t0005g0021a0001c0007t0001g0034a0001c0018t0009g0029others(1): Show | 4 | HG03453.hp2 HG04228.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-797delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954900 | ||||||
| chr9:137954901
|
A | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1071-797A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954901 | ||||||
| chr9:137954901
|
A | T | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-797A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954901 | ||||||
| chr9:137954903
|
G | A | 4 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050others(1): Show | 4 | HG01109.hp2 HG02080.hp2 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.1071-795G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954903 | ||||||
| chr9:137954905
|
G | A | 3 | a0001c0012t0001g0031a0001c0012t0001g0051a0001c0012t0002g0050 | 3 | HG02080.hp2 NA18960.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1071-793G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137954905 | ||||||
| chr9:137955067
|
G | A | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1071-631G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137955067 | ||||||
| chr9:137955195
|
C | G | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1071-503C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137955195 | ||||||
| chr9:137955216
|
A | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1071-482A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137955216 | ||||||
| chr9:137955493
|
G | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1071-205G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | chr9 | 137955493 | ||||||
| chr9:137955849
|
GC | G | 3 | a0002c0008t0003g0197a0002c0008t0003g0198a0002c0008t0003g0199 | 3 | NA18950.hp2 NA18954.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1186+38delC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr9 | 137955849 | |||||
| chr9:137955926
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1186+113G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137955926 | ||||||
| chr9:137955980
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1186+167T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137955980 | ||||||
| chr9:137956048
|
C | G | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1186+235C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956048 | ||||||
| chr9:137956136
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1186+323G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956136 | ||||||
| chr9:137956242
|
A | C | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1186+429A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956242 | ||||||
| chr9:137956250
|
G | A | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1186+437G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956250 | ||||||
| chr9:137956285
|
T | C | 1 | a0011c0037t0014g0048 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1186+472T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956285 | ||||||
| chr9:137956433
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1187-338G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956433 | ||||||
| chr9:137956458
|
G | A | 2 | a0003c0006t0002g0138a0003c0006t0002g0139 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.1187-313G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956458 | ||||||
| chr9:137956500
|
A | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1187-271A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956500 | ||||||
| chr9:137956568
|
C | T | 10 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0130others(7): Show | 10 | HG01261.hp2 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.1187-203C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956568 | ||||||
| chr9:137956653
|
C | CA | 11 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0008g0065others(8): Show | 11 | HG00280.hp1 HG00323.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.1187-101dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr9 | 137956653 | |||||
| chr9:137956653
|
C | CAA | 5 | a0004c0042t0008g0121a0004c0054t0008g0013a0009c0021t0010g0004others(2): Show | 5 | HG02486.hp1 HG02647.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.1187-102_1187-101d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr9 | 137956653 | |||||
| chr9:137956763
|
C | T | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
splice_region_variant&intron_variant | LOW | c.1187-8C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 8/46 | chr9 | 137956763 | ||||||
| chr9:137956892
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1243+65C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 9/46 | chr9 | 137956892 | ||||||
| chr9:137956893
|
G | A | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1243+66G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 9/46 | chr9 | 137956893 | ||||||
| chr9:137957355
|
T | G | 1 | a0003c0006t0001g0150 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1244-243T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 9/46 | chr9 | 137957355 | ||||||
| chr9:137958137
|
A | AC | 132 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(129): Show | 132 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(129): Show |
intron_variant | MODIFIER | c.1333+450_1333+451i others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958137 | ||||||
| chr9:137958217
|
C | T | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1333+530C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958217 | ||||||
| chr9:137958504
|
G | A | 1 | a0001c0003t0005g0130 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1333+817G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958504 | ||||||
| chr9:137958504
|
G | T | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1333+817G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958504 | ||||||
| chr9:137958518
|
G | A | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1333+831G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958518 | ||||||
| chr9:137958566
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1333+879C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958566 | ||||||
| chr9:137958679
|
A | G | 1 | a0001c0002t0005g0024 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1333+992A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958679 | ||||||
| chr9:137958698
|
G | A | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1333+1011G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958698 | ||||||
| chr9:137958792
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1333+1105C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137958792 | ||||||
| chr9:137959071
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1333+1384T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959071 | ||||||
| chr9:137959162
|
T | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1333+1475T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959162 | ||||||
| chr9:137959292
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1333+1605C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959292 | ||||||
| chr9:137959496
|
C | T | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1333+1809C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959496 | ||||||
| chr9:137959584
|
G | GA | 10 | a0001c0009t0003g0022a0001c0009t0003g0092a0001c0009t0003g0093others(7): Show | 10 | NA18939.hp2 NA18955.hp1 NA18991.hp1 others(7): Show |
intron_variant | MODIFIER | c.1333+1908dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137959584 | |||||
| chr9:137959638
|
G | A | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1333+1951G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959638 | ||||||
| chr9:137959794
|
G | C | 2 | a0001c0003t0005g0107a0001c0003t0007g0106 | 2 | HG02717.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1333+2107G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959794 | ||||||
| chr9:137959949
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1333+2262T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959949 | ||||||
| chr9:137959951
|
G | A | 1 | a0003c0006t0002g0155 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1333+2264G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959951 | ||||||
| chr9:137959954
|
G | A | 1 | a0003c0006t0002g0155 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1333+2267G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959954 | ||||||
| chr9:137959988
|
G | A | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1333+2301G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137959988 | ||||||
| chr9:137960037
|
A | G | 1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1333+2350A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960037 | ||||||
| chr9:137960219
|
G | A | 2 | a0002c0001t0002g0178a0002c0004t0031g0247 | 2 | HG00642.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.1333+2532G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960219 | ||||||
| chr9:137960264
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1333+2577C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960264 | ||||||
| chr9:137960294
|
G | A | 3 | a0001c0002t0001g0103a0001c0002t0001g0104a0015c0049t0002g0100 | 3 | HG00438.hp2 NA18964.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.1333+2607G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960294 | ||||||
| chr9:137960310
|
A | G | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1333+2623A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960310 | ||||||
| chr9:137960367
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1333+2680C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960367 | ||||||
| chr9:137960369
|
G | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1333+2682G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960369 | ||||||
| chr9:137960407
|
A | G | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.1333+2720A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960407 | ||||||
| chr9:137960434
|
C | CGCCACGT others(219): Show |
238 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(235): Show | 238 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(235): Show |
intron_variant | MODIFIER | c.1333+2748_1333+274 others(230): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137960434 | |||||
| chr9:137960434
|
C | CGCCACGT others(220): Show |
6 | a0001c0044t0005g0239a0002c0001t0002g0188a0002c0004t0001g0168others(3): Show | 6 | HG01109.hp2 HG02135.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.1333+2748_1333+274 others(231): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137960434 | |||||
| chr9:137960434
|
C | CGCCACGT others(219): Show |
2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1333+2748_1333+274 others(230): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137960434 | |||||
| chr9:137960434
|
C | CGCCAGGT others(219): Show |
1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1333+2748_1333+274 others(230): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137960434 | |||||
| chr9:137960456
|
CTGAA | C | 155 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(152): Show | 155 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1333+2774_1333+277 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137960456 | |||||
| chr9:137960747
|
G | A | 2 | a0001c0002t0001g0212a0001c0002t0001g0218 | 2 | NA18947.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1333+3060G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960747 | ||||||
| chr9:137960763
|
C | G | 1 | a0002c0004t0001g0179 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1333+3076C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960763 | ||||||
| chr9:137960926
|
C | T | 2 | a0001c0044t0005g0239a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1333+3239C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137960926 | ||||||
| chr9:137961678
|
T | C | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1333+3991T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961678 | ||||||
| chr9:137961813
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1333+4126G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961813 | ||||||
| chr9:137961841
|
T | C | 1 | a0001c0003t0010g0134 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1333+4154T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961841 | ||||||
| chr9:137961876
|
G | C | 1 | a0003c0006t0001g0150 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1333+4189G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961876 | ||||||
| chr9:137961882
|
T | C | 1 | a0002c0001t0001g0227 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1333+4195T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961882 | ||||||
| chr9:137961964
|
A | G | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1333+4277A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137961964 | ||||||
| chr9:137962178
|
T | C | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1333+4491T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137962178 | ||||||
| chr9:137962313
|
A | AT | 136 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(133): Show | 136 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.1333+4639dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137962313 | |||||
| chr9:137962313
|
A | ATT | 7 | a0001c0002t0013g0012a0001c0003t0005g0006a0001c0009t0003g0022others(4): Show | 7 | HG01109.hp1 HG02451.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1333+4638_1333+463 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137962313 | |||||
| chr9:137962563
|
C | A | 20 | a0001c0005t0004g0007a0001c0005t0004g0082a0001c0005t0004g0083others(17): Show | 20 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(17): Show |
intron_variant | MODIFIER | c.1333+4876C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137962563 | ||||||
| chr9:137962737
|
A | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1333+5050A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137962737 | ||||||
| chr9:137963434
|
G | C | 3 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1333+5747G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963434 | ||||||
| chr9:137963446
|
G | T | 2 | a0001c0002t0008g0026a0001c0002t0008g0053 | 2 | HG02109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1333+5759G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963446 | ||||||
| chr9:137963480
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1333+5793C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963480 | ||||||
| chr9:137963586
|
A | G | 12 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0001t0001g0208others(9): Show | 12 | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(9): Show |
intron_variant | MODIFIER | c.1333+5899A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963586 | ||||||
| chr9:137963624
|
A | C | 12 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0001t0001g0208others(9): Show | 12 | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(9): Show |
intron_variant | MODIFIER | c.1333+5937A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963624 | ||||||
| chr9:137963931
|
C | T | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1333+6244C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137963931 | ||||||
| chr9:137964536
|
C | G | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1334-6847C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137964536 | ||||||
| chr9:137964888
|
G | A | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1334-6495G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137964888 | ||||||
| chr9:137965061
|
G | A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1334-6322G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965061 | ||||||
| chr9:137965402
|
C | T | 8 | a0003c0006t0002g0154a0003c0006t0002g0155a0006c0014t0006g0140others(5): Show | 8 | HG01258.hp2 HG01891.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.1334-5981C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965402 | ||||||
| chr9:137965406
|
C | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1334-5977C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965406 | ||||||
| chr9:137965408
|
C | T | 1 | a0001c0012t0001g0031 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1334-5975C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965408 | ||||||
| chr9:137965451
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1334-5932C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965451 | ||||||
| chr9:137965512
|
C | A | 1 | a0004c0025t0013g0217 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1334-5871C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137965512 | ||||||
| chr9:137965573
|
T | TTTTA | 11 | a0001c0003t0005g0016a0001c0003t0043g0127a0001c0022t0002g0001others(8): Show | 11 | HG01256.hp2 HG01884.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.1334-5769_1334-576 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137965573 | |||||
| chr9:137965573
|
TTTTA | T | 118 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(115): Show | 118 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(115): Show |
intron_variant | MODIFIER | c.1334-5769_1334-576 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137965573 | |||||
| chr9:137966196
|
A | G | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1334-5187A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966196 | ||||||
| chr9:137966225
|
A | AT | 15 | a0001c0002t0001g0069a0001c0005t0004g0028a0001c0009t0003g0022others(12): Show | 15 | HG00438.hp1 HG02486.hp2 HG02683.hp1 others(12): Show |
intron_variant | MODIFIER | c.1334-5141dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137966225 | |||||
| chr9:137966247
|
C | G | 2 | a0002c0004t0001g0017a0002c0004t0001g0018 | 2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.1334-5136C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966247 | ||||||
| chr9:137966286
|
G | A | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.1334-5097G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966286 | ||||||
| chr9:137966350
|
G | A | 3 | a0001c0003t0034g0109a0001c0051t0007g0108a0001c0053t0028g0105 | 3 | HG01243.hp2 HG03486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1334-5033G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966350 | ||||||
| chr9:137966785
|
G | A | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1334-4598G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966785 | ||||||
| chr9:137966978
|
TA | T | 140 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(137): Show | 140 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.1334-4395delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137966978 | |||||
| chr9:137966979
|
A | T | 8 | a0003c0006t0002g0154a0003c0006t0002g0155a0004c0025t0013g0217others(5): Show | 8 | HG01258.hp2 HG01884.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.1334-4404A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966979 | ||||||
| chr9:137966980
|
A | T | 83 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(80): Show | 83 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.1334-4403A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137966980 | ||||||
| chr9:137967197
|
C | T | 2 | a0001c0002t0001g0039a0001c0002t0001g0058 | 2 | HG00673.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.1334-4186C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967197 | ||||||
| chr9:137967247
|
A | G | 5 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-4136A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967247 | ||||||
| chr9:137967307
|
A | T | 5 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(2): Show | 5 | HG02486.hp2 HG03209.hp1 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-4076A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967307 | ||||||
| chr9:137967323
|
G | T | 1 | a0002c0011t0002g0244 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.1334-4060G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967323 | ||||||
| chr9:137967339
|
C | T | 23 | a0001c0005t0004g0028a0001c0005t0004g0082a0001c0005t0004g0083others(20): Show | 23 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(20): Show |
intron_variant | MODIFIER | c.1334-4044C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967339 | ||||||
| chr9:137967355
|
G | A | 1 | a0003c0006t0002g0138 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1334-4028G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967355 | ||||||
| chr9:137967452
|
C | T | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1334-3931C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967452 | ||||||
| chr9:137967576
|
C | T | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1334-3807C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967576 | ||||||
| chr9:137967615
|
G | A | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1334-3768G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967615 | ||||||
| chr9:137967660
|
G | A | 1 | a0010c0040t0002g0230 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1334-3723G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967660 | ||||||
| chr9:137967694
|
G | GTCTC | 48 | a0001c0003t0005g0006a0001c0003t0006g0112a0001c0003t0006g0136others(45): Show | 48 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.1334-3680_1334-367 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr9 | 137967694 | |||||
| chr9:137967708
|
T | C | 1 | a0015c0049t0002g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1334-3675T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967708 | ||||||
| chr9:137967716
|
T | C | 107 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(104): Show | 107 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.1334-3667T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967716 | ||||||
| chr9:137967811
|
C | T | 3 | a0001c0003t0006g0136a0004c0023t0008g0077a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1334-3572C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967811 | ||||||
| chr9:137967925
|
C | T | 9 | a0001c0002t0002g0046a0001c0007t0003g0027a0001c0007t0003g0041others(6): Show | 9 | HG00280.hp2 HG00621.hp1 HG02056.hp2 others(6): Show |
intron_variant | MODIFIER | c.1334-3458C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137967925 | ||||||
| chr9:137968015
|
C | T | 11 | a0001c0044t0005g0239a0004c0025t0013g0217a0004c0025t0022g0010others(8): Show | 11 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1334-3368C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968015 | ||||||
| chr9:137968109
|
G | A | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1334-3274G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968109 | ||||||
| chr9:137968126
|
C | T | 5 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(2): Show | 5 | HG02486.hp2 HG03209.hp1 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-3257C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968126 | ||||||
| chr9:137968132
|
G | A | 5 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(2): Show | 5 | HG02486.hp2 HG03209.hp1 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-3251G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968132 | ||||||
| chr9:137968148
|
C | T | 1 | a0002c0008t0003g0197 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1334-3235C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968148 | ||||||
| chr9:137968204
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1334-3179T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968204 | ||||||
| chr9:137968280
|
C | T | 3 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013 | 3 | HG02896.hp2 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1334-3103C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968280 | ||||||
| chr9:137968479
|
G | A | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1334-2904G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137968479 | ||||||
| chr9:137969029
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1334-2354A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969029 | ||||||
| chr9:137969235
|
C | G | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1334-2148C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969235 | ||||||
| chr9:137969309
|
G | T | 3 | a0005c0024t0011g0160a0005c0024t0011g0162a0005c0038t0023g0020 | 3 | HG02486.hp2 HG03209.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1334-2074G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969309 | ||||||
| chr9:137969331
|
G | A | 1 | a0001c0002t0005g0024 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1334-2052G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969331 | ||||||
| chr9:137969419
|
T | G | 4 | a0001c0002t0013g0128a0008c0019t0017g0124a0008c0019t0017g0125others(1): Show | 4 | HG03098.hp1 NA19056.hp2 NA19060.hp2 others(1): Show |
intron_variant | MODIFIER | c.1334-1964T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969419 | ||||||
| chr9:137969694
|
C | T | 1 | a0018c0046t0016g0110 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1334-1689C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969694 | ||||||
| chr9:137969736
|
C | T | 3 | a0001c0003t0006g0136a0001c0003t0007g0118a0019c0045t0007g0117 | 3 | HG03041.hp2 NA18522.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1334-1647C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969736 | ||||||
| chr9:137969771
|
T | C | 1 | a0001c0005t0004g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1334-1612T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969771 | ||||||
| chr9:137969947
|
G | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1334-1436G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137969947 | ||||||
| chr9:137970122
|
C | A | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1334-1261C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970122 | ||||||
| chr9:137970221
|
C | G | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1334-1162C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970221 | ||||||
| chr9:137970254
|
G | A | 10 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0130others(7): Show | 10 | HG01261.hp2 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.1334-1129G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970254 | ||||||
| chr9:137970601
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1334-782C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970601 | ||||||
| chr9:137970695
|
G | A | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1334-688G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970695 | ||||||
| chr9:137970786
|
A | G | 5 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0166others(2): Show | 5 | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-597A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970786 | ||||||
| chr9:137970874
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1334-509G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970874 | ||||||
| chr9:137970880
|
C | T | 5 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0058others(2): Show | 5 | HG00544.hp2 HG00673.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1334-503C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970880 | ||||||
| chr9:137970882
|
A | G | 4 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 NA18939.hp2 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.1334-501A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970882 | ||||||
| chr9:137970934
|
G | A | 16 | a0001c0002t0001g0069a0001c0002t0001g0212a0001c0002t0001g0218others(13): Show | 16 | HG00280.hp2 HG00621.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.1334-449G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137970934 | ||||||
| chr9:137971018
|
G | C | 2 | a0004c0025t0013g0217a0004c0025t0022g0010 | 2 | HG01884.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1334-365G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137971018 | ||||||
| chr9:137971307
|
G | A | 3 | a0001c0002t0001g0072a0001c0013t0008g0066a0001c0032t0001g0071 | 3 | HG02015.hp2 NA19000.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.1334-76G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137971307 | ||||||
| chr9:137971313
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1334-70G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137971313 | ||||||
| chr9:137971336
|
G | A | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1334-47G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 10/46 | chr9 | 137971336 | ||||||
| chr9:137971621
|
C | T | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1543+29C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971621 | ||||||
| chr9:137971719
|
C | T | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1543+127C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971719 | ||||||
| chr9:137971737
|
T | C | 158 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(155): Show | 158 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(155): Show |
intron_variant | MODIFIER | c.1543+145T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971737 | ||||||
| chr9:137971766
|
T | C | 10 | a0001c0022t0002g0001a0001c0022t0020g0002a0002c0001t0038g0164others(7): Show | 10 | HG01255.hp1 HG02486.hp2 HG03486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1543+174T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971766 | ||||||
| chr9:137971875
|
G | A | 1 | a0003c0006t0002g0152 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1543+283G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971875 | ||||||
| chr9:137971944
|
T | C | 246 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(243): Show | 246 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(243): Show |
intron_variant | MODIFIER | c.1543+352T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971944 | ||||||
| chr9:137971945
|
G | A | 11 | a0001c0013t0009g0203a0001c0013t0027g0240a0001c0044t0005g0239others(8): Show | 11 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1543+353G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137971945 | ||||||
| chr9:137972019
|
C | T | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1543+427C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972019 | ||||||
| chr9:137972169
|
G | GGGGCCAG others(42): Show |
3 | a0004c0023t0008g0077a0005c0024t0011g0160a0005c0024t0011g0162 | 3 | HG02486.hp2 HG02976.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1543+591_1543+592i others(51): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr9 | 137972169 | |||||
| chr9:137972237
|
A | G | 145 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(142): Show | 145 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.1543+645A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972237 | ||||||
| chr9:137972356
|
C | T | 2 | a0002c0001t0001g0221a0002c0001t0001g0222 | 2 | HG01256.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.1543+764C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972356 | ||||||
| chr9:137972370
|
C | T | 1 | a0001c0051t0007g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1543+778C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972370 | ||||||
| chr9:137972374
|
G | T | 118 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(115): Show | 118 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(115): Show |
intron_variant | MODIFIER | c.1543+782G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972374 | ||||||
| chr9:137972460
|
C | T | 1 | a0001c0002t0001g0072 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1543+868C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137972460 | ||||||
| chr9:137973011
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1543+1419G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973011 | ||||||
| chr9:137973059
|
C | G | 2 | a0001c0002t0001g0057a0001c0002t0001g0123 | 2 | NA18944.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.1543+1467C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973059 | ||||||
| chr9:137973144
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1543+1552C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973144 | ||||||
| chr9:137973148
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1543+1556C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973148 | ||||||
| chr9:137973373
|
G | A | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1543+1781G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973373 | ||||||
| chr9:137973720
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1543+2128A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973720 | ||||||
| chr9:137973767
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1544-2140C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973767 | ||||||
| chr9:137973802
|
C | T | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1544-2105C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973802 | ||||||
| chr9:137973803
|
T | C | 247 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(244): Show | 247 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(244): Show |
intron_variant | MODIFIER | c.1544-2104T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973803 | ||||||
| chr9:137973874
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1544-2033C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137973874 | ||||||
| chr9:137974081
|
T | G | 2 | a0002c0010t0005g0243a0002c0010t0010g0204 | 2 | HG02809.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1544-1826T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974081 | ||||||
| chr9:137974139
|
G | A | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1544-1768G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974139 | ||||||
| chr9:137974315
|
G | A | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1544-1592G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974315 | ||||||
| chr9:137974550
|
C | T | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1544-1357C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974550 | ||||||
| chr9:137974583
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1544-1324C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974583 | ||||||
| chr9:137974719
|
A | G | 4 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 NA18939.hp2 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.1544-1188A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974719 | ||||||
| chr9:137974985
|
C | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1544-922C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137974985 | ||||||
| chr9:137975021
|
C | T | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1544-886C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975021 | ||||||
| chr9:137975228
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1544-679C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975228 | ||||||
| chr9:137975243
|
C | T | 14 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(11): Show | 14 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1544-664C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975243 | ||||||
| chr9:137975355
|
G | A | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1544-552G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975355 | ||||||
| chr9:137975375
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1544-532C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975375 | ||||||
| chr9:137975385
|
G | A | 2 | a0001c0002t0008g0241a0018c0046t0016g0110 | 2 | HG01258.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1544-522G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975385 | ||||||
| chr9:137975661
|
C | T | 1 | a0001c0007t0003g0056 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1544-246C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975661 | ||||||
| chr9:137975841
|
G | A | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1544-66G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | chr9 | 137975841 | ||||||
| chr9:137976036
|
A | T | 2 | a0002c0001t0001g0221a0002c0001t0001g0222 | 2 | HG01256.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.1656+17A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976036 | ||||||
| chr9:137976089
|
A | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1656+70A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976089 | ||||||
| chr9:137976177
|
G | A | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1656+158G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976177 | ||||||
| chr9:137976226
|
A | C | 162 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(159): Show | 162 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(159): Show |
intron_variant | MODIFIER | c.1656+207A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976226 | ||||||
| chr9:137976239
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1656+220C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976239 | ||||||
| chr9:137976429
|
C | T | 1 | a0001c0005t0004g0084 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1656+410C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976429 | ||||||
| chr9:137976508
|
T | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1656+489T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976508 | ||||||
| chr9:137976541
|
C | T | 9 | a0002c0001t0002g0226a0002c0001t0005g0231a0002c0001t0035g0232others(6): Show | 9 | HG01255.hp1 HG02015.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1656+522C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976541 | ||||||
| chr9:137976612
|
G | A | 4 | a0001c0022t0002g0001a0001c0022t0020g0002a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 NA18939.hp2 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.1656+593G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976612 | ||||||
| chr9:137976632
|
G | C | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1656+613G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976632 | ||||||
| chr9:137976713
|
G | C | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1656+694G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976713 | ||||||
| chr9:137976792
|
C | G | 1 | a0001c0012t0001g0051 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1656+773C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976792 | ||||||
| chr9:137976812
|
AGCCTTGG others(187): Show |
A | 146 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(143): Show | 146 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.1656+982_1656+1175 others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137976812 | |||||
| chr9:137976812
|
AGCCTTGG others(284): Show |
A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1656+849_1656+1139 others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137976812 | |||||
| chr9:137976812
|
AGCCTTGG others(381): Show |
A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1656+982_1656+1369 others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137976812 | |||||
| chr9:137976934
|
G | T | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1656+915G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137976934 | ||||||
| chr9:137976968
|
AGGGCAGT others(90): Show |
A | 1 | a0002c0008t0003g0197 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1656+1043_1656+113 others(101): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137976968 | |||||
| chr9:137977001
|
A | G | 7 | a0001c0017t0006g0122a0001c0048t0006g0101a0003c0006t0002g0138others(4): Show | 7 | HG00639.hp1 HG01109.hp1 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.1656+982A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977001 | ||||||
| chr9:137977001
|
AGGGAGGC others(187): Show |
A | 8 | a0002c0001t0001g0163a0002c0001t0002g0226a0002c0001t0005g0231others(5): Show | 8 | HG01255.hp1 HG02109.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1656+1237_1656+143 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137977001 | |||||
| chr9:137977045
|
C | T | 3 | a0004c0023t0042g0076a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG03139.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1656+1026C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977045 | ||||||
| chr9:137977049
|
G | A | 3 | a0004c0023t0042g0076a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG03139.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1656+1030G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977049 | ||||||
| chr9:137977056
|
G | C | 3 | a0004c0023t0042g0076a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG03139.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1656+1037G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977056 | ||||||
| chr9:137977062
|
T | G | 3 | a0004c0023t0042g0076a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG03139.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1656+1043T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977062 | ||||||
| chr9:137977065
|
T | A | 3 | a0004c0023t0042g0076a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG03139.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1656+1046T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977065 | ||||||
| chr9:137977098
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1656+1079A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977098 | ||||||
| chr9:137977128
|
G | T | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1656+1109G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977128 | ||||||
| chr9:137977142
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1656+1123C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977142 | ||||||
| chr9:137977146
|
G | A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1656+1127G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977146 | ||||||
| chr9:137977153
|
G | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1656+1134G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977153 | ||||||
| chr9:137977191
|
A | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1656+1172A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977191 | ||||||
| chr9:137977256
|
T | G | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1656+1237T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977256 | ||||||
| chr9:137977259
|
T | A | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1656+1240T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977259 | ||||||
| chr9:137977382
|
T | C | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1656+1363T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977382 | ||||||
| chr9:137977609
|
G | A | 5 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0058others(2): Show | 5 | HG00544.hp2 HG00673.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1656+1590G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977609 | ||||||
| chr9:137977716
|
C | T | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1656+1697C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137977716 | ||||||
| chr9:137977912
|
GCAGGAAG others(66): Show |
G | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1656+1921_1656+199 others(77): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137977912 | |||||
| chr9:137978017
|
C | T | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1656+1998C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978017 | ||||||
| chr9:137978060
|
G | T | 3 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013 | 3 | HG02896.hp2 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1656+2041G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978060 | ||||||
| chr9:137978089
|
TC | T | 27 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.1656+2075delC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137978089 | |||||
| chr9:137978092
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1656+2073C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978092 | ||||||
| chr9:137978191
|
G | GC | 40 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(37): Show | 40 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1656+2181dupC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137978191 | |||||
| chr9:137978224
|
C | A | 4 | a0001c0003t0010g0131a0001c0003t0010g0132a0001c0003t0010g0134others(1): Show | 4 | HG02559.hp1 HG02895.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1656+2205C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978224 | ||||||
| chr9:137978418
|
T | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1656+2399T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978418 | ||||||
| chr9:137978509
|
C | T | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1656+2490C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978509 | ||||||
| chr9:137978521
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1656+2502C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978521 | ||||||
| chr9:137978709
|
CTG | C | 92 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(89): Show | 92 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.1656+2693_1656+269 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137978709 | |||||
| chr9:137978995
|
G | C | 4 | a0001c0044t0005g0239a0009c0021t0010g0004a0009c0021t0019g0003others(1): Show | 4 | HG02486.hp1 HG02647.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.1656+2976G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137978995 | ||||||
| chr9:137979206
|
G | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1656+3187G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979206 | ||||||
| chr9:137979336
|
C | T | 1 | a0016c0030t0003g0097 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1656+3317C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979336 | ||||||
| chr9:137979337
|
G | A | 1 | a0010c0040t0002g0230 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1656+3318G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979337 | ||||||
| chr9:137979340
|
G | A | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1656+3321G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979340 | ||||||
| chr9:137979598
|
G | A | 14 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(11): Show | 14 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1656+3579G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979598 | ||||||
| chr9:137979628
|
G | T | 1 | a0002c0001t0035g0232 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1656+3609G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979628 | ||||||
| chr9:137979766
|
G | A | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.1656+3747G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979766 | ||||||
| chr9:137979782
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1656+3763T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979782 | ||||||
| chr9:137979794
|
G | A | 2 | a0002c0001t0001g0163a0002c0001t0001g0227 | 2 | HG01071.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1656+3775G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979794 | ||||||
| chr9:137979920
|
A | C | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1656+3901A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979920 | ||||||
| chr9:137979966
|
T | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1656+3947T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137979966 | ||||||
| chr9:137980057
|
T | A | 2 | a0001c0005t0004g0028a0001c0005t0004g0184 | 2 | HG00438.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.1656+4038T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980057 | ||||||
| chr9:137980262
|
C | CA | 9 | a0002c0001t0029g0189a0002c0004t0001g0168a0002c0004t0026g0207others(6): Show | 9 | HG00544.hp1 HG00597.hp2 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.1657-3875dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137980262 | |||||
| chr9:137980663
|
C | T | 1 | a0001c0005t0004g0089 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1657-3475C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980663 | ||||||
| chr9:137980689
|
A | G | 1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1657-3449A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980689 | ||||||
| chr9:137980774
|
C | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1657-3364C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980774 | ||||||
| chr9:137980809
|
A | G | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.1657-3329A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980809 | ||||||
| chr9:137980959
|
G | T | 1 | a0001c0002t0004g0073 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1657-3179G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980959 | ||||||
| chr9:137980968
|
C | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1657-3170C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980968 | ||||||
| chr9:137980975
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1657-3163C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137980975 | ||||||
| chr9:137981212
|
T | C | 3 | a0001c0003t0005g0021a0001c0003t0044g0011a0001c0003t0045g0008 | 3 | HG01261.hp2 HG02717.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1657-2926T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981212 | ||||||
| chr9:137981248
|
A | AT | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1657-2883dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr9 | 137981248 | |||||
| chr9:137981350
|
A | G | 1 | a0003c0006t0002g0154 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1657-2788A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981350 | ||||||
| chr9:137981353
|
C | T | 2 | a0001c0002t0008g0026a0001c0002t0008g0053 | 2 | HG02109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1657-2785C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981353 | ||||||
| chr9:137981479
|
T | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1657-2659T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981479 | ||||||
| chr9:137981491
|
T | G | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1657-2647T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981491 | ||||||
| chr9:137981493
|
G | T | 1 | a0002c0001t0002g0178 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1657-2645G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981493 | ||||||
| chr9:137981519
|
C | T | 135 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(132): Show | 135 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
intron_variant | MODIFIER | c.1657-2619C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981519 | ||||||
| chr9:137981539
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1657-2599C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981539 | ||||||
| chr9:137981569
|
C | T | 1 | a0001c0050t0040g0129 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1657-2569C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981569 | ||||||
| chr9:137981947
|
G | A | 1 | a0019c0045t0007g0117 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1657-2191G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137981947 | ||||||
| chr9:137982028
|
A | G | 140 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(137): Show | 140 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.1657-2110A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137982028 | ||||||
| chr9:137982081
|
C | A | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1657-2057C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137982081 | ||||||
| chr9:137982086
|
T | C | 1 | a0001c0018t0009g0029 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1657-2052T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137982086 | ||||||
| chr9:137982275
|
A | T | 135 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(132): Show | 135 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
intron_variant | MODIFIER | c.1657-1863A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137982275 | ||||||
| chr9:137983043
|
G | C | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1657-1095G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983043 | ||||||
| chr9:137983281
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1657-857C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983281 | ||||||
| chr9:137983504
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1657-634C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983504 | ||||||
| chr9:137983604
|
T | C | 5 | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1657-534T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983604 | ||||||
| chr9:137983608
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1657-530G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983608 | ||||||
| chr9:137983839
|
G | T | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1657-299G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983839 | ||||||
| chr9:137983904
|
G | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1657-234G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983904 | ||||||
| chr9:137983944
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1657-194T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137983944 | ||||||
| chr9:137984114
|
A | G | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1657-24A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 12/46 | chr9 | 137984114 | ||||||
| chr9:137984451
|
C | T | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1769+201C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984451 | ||||||
| chr9:137984457
|
G | A | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1769+207G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984457 | ||||||
| chr9:137984540
|
C | T | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1769+290C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984540 | ||||||
| chr9:137984707
|
G | A | 1 | a0001c0007t0003g0043 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.1769+457G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984707 | ||||||
| chr9:137984722
|
G | A | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.1769+472G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984722 | ||||||
| chr9:137984877
|
T | C | 1 | a0003c0006t0002g0141 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1769+627T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984877 | ||||||
| chr9:137984918
|
C | A | 121 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(118): Show | 121 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1769+668C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137984918 | ||||||
| chr9:137984935
|
A | AAG | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1769+697_1769+698d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr9 | 137984935 | |||||
| chr9:137985092
|
C | T | 121 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(118): Show | 121 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1769+842C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985092 | ||||||
| chr9:137985258
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1769+1008G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985258 | ||||||
| chr9:137985337
|
T | G | 14 | a0001c0013t0009g0203a0001c0013t0027g0240a0001c0044t0005g0239others(11): Show | 14 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.1770-1076T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985337 | ||||||
| chr9:137985528
|
T | G | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.1770-885T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985528 | ||||||
| chr9:137985836
|
A | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1770-577A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985836 | ||||||
| chr9:137985865
|
G | A | 4 | a0004c0042t0008g0121a0004c0054t0008g0013a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1770-548G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985865 | ||||||
| chr9:137985979
|
G | A | 1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1770-434G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137985979 | ||||||
| chr9:137986083
|
G | T | 1 | a0001c0012t0004g0040 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1770-330G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137986083 | ||||||
| chr9:137986087
|
A | G | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1770-326A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137986087 | ||||||
| chr9:137986143
|
C | T | 135 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(132): Show | 135 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
intron_variant | MODIFIER | c.1770-270C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137986143 | ||||||
| chr9:137986184
|
G | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1770-229G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 13/46 | chr9 | 137986184 | ||||||
| chr9:137986618
|
C | T | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1901+74C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 14/46 | chr9 | 137986618 | ||||||
| chr9:137986862
|
A | C | 138 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(135): Show | 138 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show |
splice_region_variant&intron_variant | LOW | c.1974+8A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137986862 | ||||||
| chr9:137986902
|
C | A | 1 | a0001c0002t0001g0103 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1974+48C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137986902 | ||||||
| chr9:137986903
|
C | G | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1974+49C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137986903 | ||||||
| chr9:137986998
|
C | T | 2 | a0002c0004t0001g0017a0002c0004t0001g0018 | 2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.1974+144C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137986998 | ||||||
| chr9:137987041
|
C | T | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1974+187C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987041 | ||||||
| chr9:137987231
|
C | G | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.1974+377C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987231 | ||||||
| chr9:137987386
|
G | A | 1 | a0014c0031t0002g0113 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1974+532G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987386 | ||||||
| chr9:137987531
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+677G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987531 | ||||||
| chr9:137987676
|
G | C | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1974+822G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987676 | ||||||
| chr9:137987822
|
C | G | 8 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0006g0136others(5): Show | 8 | HG02486.hp2 HG02717.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.1974+968C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987822 | ||||||
| chr9:137987960
|
C | T | 7 | a0002c0001t0002g0157a0002c0001t0002g0178a0002c0001t0002g0181others(4): Show | 7 | HG00621.hp2 HG02698.hp1 NA18963.hp1 others(4): Show |
intron_variant | MODIFIER | c.1974+1106C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137987960 | ||||||
| chr9:137988029
|
A | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+1175A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988029 | ||||||
| chr9:137988078
|
C | G | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1974+1224C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988078 | ||||||
| chr9:137988190
|
G | A | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1974+1336G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988190 | ||||||
| chr9:137988191
|
G | A | 12 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0016others(9): Show | 12 | HG01261.hp2 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1974+1337G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988191 | ||||||
| chr9:137988240
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+1386G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988240 | ||||||
| chr9:137988308
|
G | C | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1974+1454G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988308 | ||||||
| chr9:137988488
|
G | T | 6 | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(3): Show | 6 | HG02015.hp2 NA18951.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.1974+1634G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137988488 | ||||||
| chr9:137989097
|
C | T | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1974+2243C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989097 | ||||||
| chr9:137989299
|
C | T | 1 | a0003c0006t0002g0151 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1974+2445C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989299 | ||||||
| chr9:137989453
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+2599G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989453 | ||||||
| chr9:137989731
|
C | G | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1974+2877C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989731 | ||||||
| chr9:137989735
|
C | G | 1 | a0001c0007t0003g0074 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1974+2881C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989735 | ||||||
| chr9:137989757
|
A | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1974+2903A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989757 | ||||||
| chr9:137989986
|
G | A | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1974+3132G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137989986 | ||||||
| chr9:137990244
|
A | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+3390A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990244 | ||||||
| chr9:137990255
|
T | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1974+3401T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990255 | ||||||
| chr9:137990281
|
C | T | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1974+3427C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990281 | ||||||
| chr9:137990492
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1974+3638C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990492 | ||||||
| chr9:137990576
|
G | A | 2 | a0002c0008t0003g0198a0002c0008t0003g0199 | 2 | NA18950.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1974+3722G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990576 | ||||||
| chr9:137990596
|
C | T | 2 | a0002c0008t0003g0198a0002c0008t0003g0199 | 2 | NA18950.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1974+3742C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990596 | ||||||
| chr9:137990637
|
T | C | 2 | a0002c0008t0003g0198a0002c0008t0003g0199 | 2 | NA18950.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1974+3783T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990637 | ||||||
| chr9:137990741
|
G | A | 24 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(21): Show | 24 | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.1974+3887G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990741 | ||||||
| chr9:137990809
|
A | C | 1 | a0003c0006t0039g0148 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1974+3955A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990809 | ||||||
| chr9:137990814
|
T | C | 128 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(125): Show | 128 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(125): Show |
intron_variant | MODIFIER | c.1974+3960T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990814 | ||||||
| chr9:137990820
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+3966C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990820 | ||||||
| chr9:137990893
|
A | G | 148 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(145): Show | 148 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.1974+4039A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137990893 | ||||||
| chr9:137991007
|
C | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1974+4153C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991007 | ||||||
| chr9:137991293
|
A | G | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1974+4439A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991293 | ||||||
| chr9:137991296
|
C | A | 16 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(13): Show | 16 | HG01099.hp2 HG01433.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.1974+4442C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991296 | ||||||
| chr9:137991541
|
C | G | 14 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(11): Show | 14 | HG00597.hp1 HG00673.hp1 NA18747.hp1 others(11): Show |
intron_variant | MODIFIER | c.1974+4687C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991541 | ||||||
| chr9:137991547
|
A | C | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1974+4693A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991547 | ||||||
| chr9:137991690
|
A | G | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1974+4836A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137991690 | ||||||
| chr9:137992141
|
G | C | 1 | a0003c0006t0008g0145 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1974+5287G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992141 | ||||||
| chr9:137992432
|
T | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+5578T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992432 | ||||||
| chr9:137992489
|
C | T | 16 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(13): Show | 16 | HG01099.hp2 HG01433.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.1974+5635C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992489 | ||||||
| chr9:137992610
|
AT | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1974+5758delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137992610 | |||||
| chr9:137992704
|
G | A | 58 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(55): Show | 58 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(55): Show |
intron_variant | MODIFIER | c.1974+5850G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992704 | ||||||
| chr9:137992713
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+5859A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992713 | ||||||
| chr9:137992753
|
G | A | 1 | a0001c0015t0009g0080 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1974+5899G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992753 | ||||||
| chr9:137992781
|
A | G | 4 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0017others(1): Show | 4 | HG02683.hp1 HG03688.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.1974+5927A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992781 | ||||||
| chr9:137992796
|
C | CA | 8 | a0002c0001t0001g0036a0002c0001t0001g0163a0002c0001t0001g0227others(5): Show | 8 | HG00621.hp2 HG00639.hp2 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.1974+5960dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137992796 | |||||
| chr9:137992796
|
CAA | C | 121 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(118): Show | 121 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1974+5959_1974+596 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137992796 | |||||
| chr9:137992843
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1974+5989C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992843 | ||||||
| chr9:137992891
|
C | T | 1 | a0001c0013t0014g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1974+6037C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992891 | ||||||
| chr9:137992893
|
G | T | 122 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(119): Show | 122 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.1974+6039G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137992893 | ||||||
| chr9:137993300
|
TTATC | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+6453_1974+645 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137993300 | |||||
| chr9:137993354
|
G | GTCTAGAT others(18): Show |
146 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(143): Show | 146 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.1974+6520_1974+652 others(29): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137993354 | |||||
| chr9:137993354
|
G | GTCTAGAT others(14): Show |
3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+6507_1974+650 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137993354 | |||||
| chr9:137993483
|
T | C | 1 | a0001c0005t0004g0137 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1974+6629T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137993483 | ||||||
| chr9:137993788
|
A | G | 1 | a0001c0002t0002g0046 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1974+6934A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137993788 | ||||||
| chr9:137993948
|
A | G | 24 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(21): Show | 24 | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.1974+7094A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137993948 | ||||||
| chr9:137994762
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+7908A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137994762 | ||||||
| chr9:137994937
|
G | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1974+8083G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137994937 | ||||||
| chr9:137994986
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+8132C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137994986 | ||||||
| chr9:137995071
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+8217G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995071 | ||||||
| chr9:137995079
|
G | A | 122 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(119): Show | 122 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.1974+8225G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995079 | ||||||
| chr9:137995163
|
G | A | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1974+8309G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995163 | ||||||
| chr9:137995212
|
C | CA | 20 | a0001c0003t0005g0107a0001c0003t0006g0112a0001c0003t0007g0106others(17): Show | 20 | HG01243.hp2 HG02074.hp2 HG02717.hp1 others(17): Show |
intron_variant | MODIFIER | c.1974+8374dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137995212 | |||||
| chr9:137995212
|
CA | C | 100 | a0001c0002t0001g0186a0001c0002t0021g0075a0001c0003t0006g0136others(97): Show | 100 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(97): Show |
intron_variant | MODIFIER | c.1974+8374delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137995212 | |||||
| chr9:137995224
|
A | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1974+8370A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995224 | ||||||
| chr9:137995406
|
C | G | 24 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(21): Show | 24 | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.1974+8552C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995406 | ||||||
| chr9:137995408
|
A | G | 5 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0058others(2): Show | 5 | HG00544.hp2 HG00673.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1974+8554A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995408 | ||||||
| chr9:137995437
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1974+8583G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995437 | ||||||
| chr9:137995438
|
A | C | 16 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(13): Show | 16 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(13): Show |
intron_variant | MODIFIER | c.1974+8584A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995438 | ||||||
| chr9:137995481
|
A | C | 6 | a0002c0001t0002g0157a0002c0001t0002g0178a0002c0001t0002g0181others(3): Show | 6 | HG00621.hp2 NA18963.hp1 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.1974+8627A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995481 | ||||||
| chr9:137995541
|
G | A | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1974+8687G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995541 | ||||||
| chr9:137995921
|
C | T | 12 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0016others(9): Show | 12 | HG01261.hp2 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1974+9067C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137995921 | ||||||
| chr9:137996144
|
A | G | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1974+9290A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996144 | ||||||
| chr9:137996177
|
A | C | 6 | a0001c0012t0001g0031a0001c0012t0001g0032a0001c0012t0001g0051others(3): Show | 6 | HG00609.hp2 HG02080.hp2 NA18960.hp1 others(3): Show |
intron_variant | MODIFIER | c.1974+9323A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996177 | ||||||
| chr9:137996239
|
C | G | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1974+9385C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996239 | ||||||
| chr9:137996269
|
T | C | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1974+9415T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996269 | ||||||
| chr9:137996397
|
G | A | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1974+9543G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996397 | ||||||
| chr9:137996498
|
T | C | 2 | a0002c0001t0002g0042a0002c0001t0020g0030 | 2 | NA19007.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1974+9644T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996498 | ||||||
| chr9:137996545
|
A | G | 4 | a0002c0001t0002g0223a0003c0006t0002g0153a0003c0006t0002g0154others(1): Show | 4 | HG00738.hp1 HG01258.hp2 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.1974+9691A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996545 | ||||||
| chr9:137996768
|
C | G | 1 | a0001c0003t0010g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1974+9914C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996768 | ||||||
| chr9:137996874
|
T | TACAGATC others(12): Show |
4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-9875_1975-987 others(23): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137996874 | |||||
| chr9:137996893
|
T | C | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-9874T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996893 | ||||||
| chr9:137996934
|
G | A | 10 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(7): Show | 10 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1975-9833G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137996934 | ||||||
| chr9:137997082
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-9685T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997082 | ||||||
| chr9:137997142
|
C | T | 2 | a0001c0015t0002g0102a0014c0031t0002g0113 | 2 | NA18960.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1975-9625C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997142 | ||||||
| chr9:137997192
|
G | C | 1 | a0001c0003t0010g0135 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1975-9575G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997192 | ||||||
| chr9:137997364
|
A | T | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1975-9403A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997364 | ||||||
| chr9:137997366
|
G | A | 2 | a0002c0020t0002g0200a0002c0020t0002g0216 | 2 | HG02145.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1975-9401G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997366 | ||||||
| chr9:137997519
|
T | C | 2 | a0002c0020t0002g0200a0002c0020t0002g0216 | 2 | HG02145.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1975-9248T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997519 | ||||||
| chr9:137997780
|
G | A | 1 | a0002c0020t0002g0200 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1975-8987G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137997780 | ||||||
| chr9:137998048
|
G | A | 122 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(119): Show | 122 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.1975-8719G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998048 | ||||||
| chr9:137998053
|
A | T | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1975-8714A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998053 | ||||||
| chr9:137998105
|
G | A | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1975-8662G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998105 | ||||||
| chr9:137998164
|
G | A | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1975-8603G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998164 | ||||||
| chr9:137998278
|
G | A | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1975-8489G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998278 | ||||||
| chr9:137998405
|
G | A | 4 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0016others(1): Show | 4 | HG02015.hp1 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-8362G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998405 | ||||||
| chr9:137998409
|
G | A | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.1975-8358G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998409 | ||||||
| chr9:137998497
|
G | A | 1 | a0001c0015t0002g0102 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1975-8270G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998497 | ||||||
| chr9:137998655
|
C | T | 3 | a0002c0001t0001g0208a0002c0001t0001g0209a0022c0028t0021g0156 | 3 | HG01069.hp2 HG01071.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1975-8112C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998655 | ||||||
| chr9:137998707
|
G | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-8060G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998707 | ||||||
| chr9:137998779
|
A | T | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1975-7988A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998779 | ||||||
| chr9:137998926
|
T | C | 149 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(146): Show | 149 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.1975-7841T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998926 | ||||||
| chr9:137998978
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-7789A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137998978 | ||||||
| chr9:137999072
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-7695C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999072 | ||||||
| chr9:137999172
|
C | T | 16 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0014others(13): Show | 16 | HG01099.hp2 HG01433.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.1975-7595C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999172 | ||||||
| chr9:137999231
|
T | C | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1975-7536T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999231 | ||||||
| chr9:137999233
|
AAAAAAAT | A | 4 | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1975-7519_1975-751 others(11): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137999233 | |||||
| chr9:137999244
|
AAAT | A | 66 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(63): Show | 66 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.1975-7520_1975-751 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137999244 | |||||
| chr9:137999245
|
AAT | A | 54 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(51): Show | 54 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.1975-7520_1975-751 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 137999245 | |||||
| chr9:137999267
|
C | A | 2 | a0001c0002t0001g0057a0001c0002t0001g0123 | 2 | NA18944.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.1975-7500C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999267 | ||||||
| chr9:137999327
|
T | G | 1 | a0001c0022t0020g0002 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1975-7440T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999327 | ||||||
| chr9:137999336
|
T | C | 6 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(3): Show | 6 | HG01891.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1975-7431T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999336 | ||||||
| chr9:137999388
|
C | T | 2 | a0002c0004t0001g0201a0002c0004t0001g0202 | 2 | HG02698.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1975-7379C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999388 | ||||||
| chr9:137999462
|
A | G | 246 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(243): Show | 246 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(243): Show |
intron_variant | MODIFIER | c.1975-7305A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999462 | ||||||
| chr9:137999533
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-7234A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999533 | ||||||
| chr9:137999697
|
G | A | 1 | a0002c0001t0002g0211 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1975-7070G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 137999697 | ||||||
| chr9:138000060
|
C | G | 2 | a0008c0019t0017g0125a0008c0019t0025g0126 | 2 | NA19056.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1975-6707C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000060 | ||||||
| chr9:138000101
|
CT | C | 106 | a0001c0002t0001g0186a0001c0002t0021g0075a0001c0003t0006g0136others(103): Show | 106 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.1975-6651delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138000101 | |||||
| chr9:138000121
|
T | C | 13 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0001t0002g0228others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.1975-6646T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000121 | ||||||
| chr9:138000127
|
C | T | 1 | a0001c0002t0004g0070 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1975-6640C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000127 | ||||||
| chr9:138000129
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1975-6638C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000129 | ||||||
| chr9:138000134
|
T | A | 4 | a0002c0001t0002g0223a0003c0006t0002g0153a0003c0006t0002g0154others(1): Show | 4 | HG00738.hp1 HG01258.hp2 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-6633T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000134 | ||||||
| chr9:138000138
|
G | T | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1975-6629G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000138 | ||||||
| chr9:138000161
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1975-6606C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000161 | ||||||
| chr9:138000199
|
C | T | 142 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(139): Show | 142 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.1975-6568C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000199 | ||||||
| chr9:138000244
|
G | A | 1 | a0001c0002t0001g0072 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1975-6523G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000244 | ||||||
| chr9:138000248
|
G | T | 1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1975-6519G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000248 | ||||||
| chr9:138000256
|
G | A | 4 | a0004c0043t0009g0078a0006c0014t0006g0142a0006c0014t0006g0143others(1): Show | 4 | HG02886.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-6511G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000256 | ||||||
| chr9:138000267
|
T | G | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1975-6500T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000267 | ||||||
| chr9:138000286
|
G | A | 1 | a0002c0001t0002g0210 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1975-6481G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000286 | ||||||
| chr9:138000289
|
A | G | 20 | a0001c0002t0021g0075a0002c0001t0001g0163a0002c0004t0001g0014others(17): Show | 20 | HG01433.hp1 HG02886.hp1 HG02895.hp1 others(17): Show |
intron_variant | MODIFIER | c.1975-6478A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000289 | ||||||
| chr9:138000306
|
G | A | 157 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
intron_variant | MODIFIER | c.1975-6461G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000306 | ||||||
| chr9:138000309
|
A | G | 4 | a0001c0002t0001g0186a0002c0004t0001g0179a0002c0004t0001g0187others(1): Show | 4 | HG02056.hp1 HG02080.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1975-6458A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000309 | ||||||
| chr9:138000311
|
G | A | 2 | a0003c0006t0002g0138a0003c0006t0002g0139 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.1975-6456G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000311 | ||||||
| chr9:138000319
|
C | T | 229 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(226): Show | 229 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(226): Show |
intron_variant | MODIFIER | c.1975-6448C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000319 | ||||||
| chr9:138000334
|
G | A | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1975-6433G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000334 | ||||||
| chr9:138000344
|
C | T | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.1975-6423C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000344 | ||||||
| chr9:138000349
|
T | C | 4 | a0001c0013t0009g0203a0001c0013t0027g0240a0002c0004t0001g0019others(1): Show | 4 | HG00639.hp1 HG01099.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.1975-6418T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000349 | ||||||
| chr9:138000363
|
G | A | 2 | a0001c0013t0009g0203a0001c0013t0027g0240 | 2 | HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1975-6404G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000363 | ||||||
| chr9:138000376
|
A | G | 6 | a0001c0013t0009g0203a0001c0013t0027g0240a0004c0025t0013g0217others(3): Show | 6 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1975-6391A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000376 | ||||||
| chr9:138000378
|
A | G | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-6389A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000378 | ||||||
| chr9:138000378
|
A | T | 2 | a0001c0013t0009g0203a0001c0013t0027g0240 | 2 | HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1975-6389A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000378 | ||||||
| chr9:138000389
|
T | C | 4 | a0001c0013t0009g0203a0001c0013t0027g0240a0005c0024t0011g0160others(1): Show | 4 | HG02486.hp2 HG02683.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1975-6378T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000389 | ||||||
| chr9:138000393
|
T | C | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1975-6374T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000393 | ||||||
| chr9:138000520
|
T | C | 2 | a0005c0038t0023g0020a0022c0028t0021g0156 | 2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1975-6247T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000520 | ||||||
| chr9:138000783
|
G | A | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1975-5984G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000783 | ||||||
| chr9:138000789
|
G | A | 121 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(118): Show | 121 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1975-5978G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000789 | ||||||
| chr9:138000836
|
T | G | 138 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(135): Show | 138 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(135): Show |
intron_variant | MODIFIER | c.1975-5931T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000836 | ||||||
| chr9:138000927
|
C | T | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.1975-5840C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138000927 | ||||||
| chr9:138000981
|
C | CT | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-5781dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138000981 | |||||
| chr9:138001301
|
C | CTACAAAA others(49): Show |
28 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(25): Show | 28 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.1975-5464_1975-540 others(60): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138001301 | |||||
| chr9:138001301
|
C | CTACAAAA others(35): Show |
93 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(90): Show | 93 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(90): Show |
intron_variant | MODIFIER | c.1975-5458_1975-545 others(46): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138001301 | |||||
| chr9:138001331
|
T | G | 3 | a0002c0001t0001g0234a0002c0001t0002g0235a0013c0034t0008g0236 | 3 | HG03834.hp1 NA18612.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.1975-5436T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001331 | ||||||
| chr9:138001500
|
A | G | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-5267A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001500 | ||||||
| chr9:138001567
|
C | T | 2 | a0001c0003t0043g0127a0018c0046t0016g0110 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1975-5200C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001567 | ||||||
| chr9:138001610
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-5157A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001610 | ||||||
| chr9:138001711
|
G | A | 2 | a0001c0002t0005g0024a0001c0002t0033g0025 | 2 | HG01884.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.1975-5056G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001711 | ||||||
| chr9:138001978
|
A | G | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1975-4789A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138001978 | ||||||
| chr9:138002053
|
A | G | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-4714A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002053 | ||||||
| chr9:138002180
|
G | T | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1975-4587G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002180 | ||||||
| chr9:138002326
|
G | A | 26 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.1975-4441G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002326 | ||||||
| chr9:138002356
|
C | T | 121 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(118): Show | 121 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1975-4411C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002356 | ||||||
| chr9:138002413
|
T | C | 2 | a0002c0001t0002g0226a0002c0001t0038g0164 | 2 | HG01255.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1975-4354T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002413 | ||||||
| chr9:138002544
|
C | CA | 5 | a0002c0004t0001g0017a0002c0035t0002g0185a0008c0019t0017g0124others(2): Show | 5 | HG02683.hp2 HG04204.hp2 NA19056.hp2 others(2): Show |
intron_variant | MODIFIER | c.1975-4203dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002544 | |||||
| chr9:138002544
|
C | CAA | 6 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(3): Show | 6 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1975-4204_1975-420 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002544 | |||||
| chr9:138002544
|
CA | C | 7 | a0001c0002t0002g0046a0001c0002t0008g0241a0001c0002t0037g0242others(4): Show | 7 | HG01256.hp1 HG01258.hp1 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.1975-4203delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002544 | |||||
| chr9:138002544
|
CAA | C | 116 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(113): Show | 116 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(113): Show |
intron_variant | MODIFIER | c.1975-4204_1975-420 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002544 | |||||
| chr9:138002565
|
T | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.1975-4202T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002565 | ||||||
| chr9:138002672
|
G | A | 2 | a0004c0023t0008g0077a0004c0023t0042g0076 | 2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1975-4095G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002672 | ||||||
| chr9:138002775
|
CTTTTCTT others(10): Show |
C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-3972_1975-395 others(21): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002775 | |||||
| chr9:138002780
|
CTTTTCTT others(5): Show |
C | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-3972_1975-396 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138002780 | |||||
| chr9:138002904
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1975-3863G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138002904 | ||||||
| chr9:138003006
|
C | T | 27 | a0001c0002t0001g0212a0001c0002t0001g0218a0001c0005t0004g0007others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG01943.hp1 others(24): Show |
intron_variant | MODIFIER | c.1975-3761C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003006 | ||||||
| chr9:138003007
|
C | T | 3 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0055t0022g0009 | 3 | HG01884.hp1 HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1975-3760C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003007 | ||||||
| chr9:138003075
|
C | T | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.1975-3692C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003075 | ||||||
| chr9:138003096
|
C | A | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1975-3671C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003096 | ||||||
| chr9:138003170
|
A | G | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1975-3597A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003170 | ||||||
| chr9:138003309
|
A | G | 1 | a0001c0005t0004g0089 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1975-3458A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003309 | ||||||
| chr9:138003319
|
C | T | 122 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(119): Show | 122 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.1975-3448C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003319 | ||||||
| chr9:138003564
|
T | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.1975-3203T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003564 | ||||||
| chr9:138003638
|
C | T | 1 | a0001c0007t0003g0074 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1975-3129C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003638 | ||||||
| chr9:138003706
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1975-3061G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003706 | ||||||
| chr9:138003778
|
C | CT | 22 | a0001c0002t0001g0186a0001c0002t0001g0238a0001c0002t0011g0052others(19): Show | 22 | HG00642.hp1 HG00642.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.1975-2965dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138003778 | |||||
| chr9:138003778
|
CT | C | 68 | a0001c0002t0001g0064a0001c0002t0002g0046a0001c0002t0013g0012others(65): Show | 68 | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.1975-2965delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138003778 | |||||
| chr9:138003778
|
CTTTTTTT others(4): Show |
C | 3 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205 | 3 | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1975-2975_1975-296 others(15): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138003778 | |||||
| chr9:138003827
|
G | A | 1 | a0001c0022t0002g0001 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.1975-2940G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003827 | ||||||
| chr9:138003913
|
C | T | 3 | a0001c0002t0001g0072a0001c0013t0008g0066a0001c0032t0001g0071 | 3 | HG02015.hp2 NA19000.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.1975-2854C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138003913 | ||||||
| chr9:138004028
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-2739C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004028 | ||||||
| chr9:138004223
|
T | C | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1975-2544T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004223 | ||||||
| chr9:138004320
|
G | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-2447G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004320 | ||||||
| chr9:138004467
|
T | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1975-2300T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004467 | ||||||
| chr9:138004490
|
C | G | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1975-2277C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004490 | ||||||
| chr9:138004549
|
C | CA | 44 | a0001c0002t0001g0061a0001c0003t0034g0109a0001c0005t0004g0007others(41): Show | 44 | HG00438.hp1 HG00673.hp1 HG01243.hp2 others(41): Show |
intron_variant | MODIFIER | c.1975-2198dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138004549 | |||||
| chr9:138004736
|
C | T | 4 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0008g0065others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-2031C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138004736 | ||||||
| chr9:138005070
|
T | C | 1 | a0001c0012t0004g0040 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1975-1697T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005070 | ||||||
| chr9:138005148
|
G | A | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.1975-1619G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005148 | ||||||
| chr9:138005230
|
G | A | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.1975-1537G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005230 | ||||||
| chr9:138005344
|
A | G | 1 | a0002c0001t0002g0159 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1975-1423A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005344 | ||||||
| chr9:138005371
|
G | C | 129 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(126): Show | 129 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.1975-1396G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005371 | ||||||
| chr9:138005564
|
C | G | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1975-1203C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005564 | ||||||
| chr9:138005761
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1975-1006C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005761 | ||||||
| chr9:138005781
|
C | T | 5 | a0005c0024t0011g0160a0005c0024t0011g0162a0008c0019t0017g0124others(2): Show | 5 | HG02486.hp2 NA19056.hp2 NA19060.hp2 others(2): Show |
intron_variant | MODIFIER | c.1975-986C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005781 | ||||||
| chr9:138005814
|
T | C | 3 | a0003c0006t0002g0151a0003c0006t0002g0152a0003c0006t0008g0145 | 3 | HG00642.hp1 HG03688.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.1975-953T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005814 | ||||||
| chr9:138005819
|
G | A | 1 | a0001c0002t0002g0046 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1975-948G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005819 | ||||||
| chr9:138005899
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1975-868C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005899 | ||||||
| chr9:138005910
|
G | T | 1 | a0002c0001t0002g0210 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1975-857G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005910 | ||||||
| chr9:138005959
|
C | T | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.1975-808C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138005959 | ||||||
| chr9:138006042
|
CA | C | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(123): Show |
intron_variant | MODIFIER | c.1975-706delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | 138006042 | |||||
| chr9:138006197
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.1975-570G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006197 | ||||||
| chr9:138006368
|
G | A | 2 | a0002c0008t0003g0198a0002c0008t0003g0199 | 2 | NA18950.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1975-399G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006368 | ||||||
| chr9:138006499
|
G | A | 5 | a0002c0001t0002g0223a0003c0006t0002g0153a0003c0006t0002g0154others(2): Show | 5 | HG00738.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1975-268G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006499 | ||||||
| chr9:138006555
|
T | C | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1975-212T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006555 | ||||||
| chr9:138006667
|
C | T | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.1975-100C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006667 | ||||||
| chr9:138006678
|
C | A | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1975-89C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006678 | ||||||
| chr9:138006694
|
A | G | 139 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(136): Show | 139 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.1975-73A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006694 | ||||||
| chr9:138006721
|
G | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1975-46G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006721 | ||||||
| chr9:138006724
|
G | T | 1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1975-43G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | chr9 | 138006724 | ||||||
| chr9:138006953
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.2092+69G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138006953 | ||||||
| chr9:138006986
|
C | T | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2092+102C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138006986 | ||||||
| chr9:138007269
|
T | G | 10 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(7): Show | 10 | HG01891.hp1 HG02257.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.2092+385T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007269 | ||||||
| chr9:138007343
|
G | A | 1 | a0002c0004t0031g0247 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2092+459G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007343 | ||||||
| chr9:138007402
|
CTCTGCCC others(13): Show |
C | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.2092+520_2092+539d others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr9 | 138007402 | |||||
| chr9:138007621
|
T | A | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2092+737T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007621 | ||||||
| chr9:138007705
|
C | T | 5 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(2): Show | 5 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.2092+821C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007705 | ||||||
| chr9:138007727
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2092+843C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007727 | ||||||
| chr9:138007820
|
C | G | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2092+936C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138007820 | ||||||
| chr9:138008079
|
G | A | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2092+1195G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008079 | ||||||
| chr9:138008157
|
G | A | 3 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0016 | 3 | HG02280.hp2 HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2092+1273G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008157 | ||||||
| chr9:138008167
|
G | A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2092+1283G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008167 | ||||||
| chr9:138008191
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2092+1307C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008191 | ||||||
| chr9:138008246
|
T | G | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2092+1362T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008246 | ||||||
| chr9:138008537
|
G | T | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.2093-1473G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008537 | ||||||
| chr9:138008543
|
G | A | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2093-1467G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008543 | ||||||
| chr9:138008548
|
C | A | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2093-1462C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008548 | ||||||
| chr9:138008742
|
G | A | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2093-1268G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008742 | ||||||
| chr9:138008897
|
C | T | 2 | a0001c0005t0004g0098a0016c0030t0003g0097 | 2 | NA18995.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.2093-1113C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138008897 | ||||||
| chr9:138009142
|
G | T | 7 | a0001c0017t0002g0193a0002c0001t0002g0190a0002c0011t0002g0172others(4): Show | 7 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(4): Show |
intron_variant | MODIFIER | c.2093-868G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009142 | ||||||
| chr9:138009181
|
C | T | 100 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(97): Show | 100 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(97): Show |
intron_variant | MODIFIER | c.2093-829C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009181 | ||||||
| chr9:138009278
|
G | A | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.2093-732G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009278 | ||||||
| chr9:138009284
|
T | G | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2093-726T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009284 | ||||||
| chr9:138009335
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2093-675C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009335 | ||||||
| chr9:138009335
|
C | T | 1 | a0007c0016t0007g0205 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2093-675C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009335 | ||||||
| chr9:138009374
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2093-636G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009374 | ||||||
| chr9:138009590
|
G | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2093-420G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009590 | ||||||
| chr9:138009629
|
G | A | 12 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0166others(9): Show | 12 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(9): Show |
intron_variant | MODIFIER | c.2093-381G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009629 | ||||||
| chr9:138009950
|
C | A | 3 | a0004c0023t0008g0077a0005c0038t0023g0020a0005c0039t0032g0079 | 3 | HG02976.hp1 HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2093-60C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138009950 | ||||||
| chr9:138010006
|
C | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
splice_region_variant&intron_variant | LOW | c.2093-4C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | chr9 | 138010006 | ||||||
| chr9:138010085
|
G | A | 1 | a0008c0019t0025g0126 | 1 | NA19056.hp2 | splice_region_variant&intron_variant | LOW | c.2160+8G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010085 | ||||||
| chr9:138010095
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2160+18G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010095 | ||||||
| chr9:138010188
|
G | A | 120 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(117): Show | 120 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.2160+111G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010188 | ||||||
| chr9:138010270
|
G | A | 2 | a0001c0002t0001g0072a0001c0032t0001g0071 | 2 | HG02015.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.2160+193G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010270 | ||||||
| chr9:138010296
|
G | A | 3 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0055t0022g0009 | 3 | HG01884.hp1 HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2160+219G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010296 | ||||||
| chr9:138010325
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2160+248C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010325 | ||||||
| chr9:138010805
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2160+728C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010805 | ||||||
| chr9:138010970
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2160+893C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138010970 | ||||||
| chr9:138011161
|
C | T | 1 | a0003c0006t0002g0138 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2160+1084C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011161 | ||||||
| chr9:138011530
|
A | T | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2160+1453A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011530 | ||||||
| chr9:138011819
|
C | T | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2161-1310C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011819 | ||||||
| chr9:138011823
|
T | G | 29 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(26): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.2161-1306T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011823 | ||||||
| chr9:138011855
|
G | A | 124 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(121): Show | 124 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(121): Show |
intron_variant | MODIFIER | c.2161-1274G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011855 | ||||||
| chr9:138011983
|
C | T | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2161-1146C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138011983 | ||||||
| chr9:138012081
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2161-1048G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138012081 | ||||||
| chr9:138012185
|
G | C | 147 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(144): Show | 147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.2161-944G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138012185 | ||||||
| chr9:138012433
|
T | C | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2161-696T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138012433 | ||||||
| chr9:138012714
|
T | TA | 7 | a0001c0013t0009g0203a0001c0051t0007g0108a0004c0023t0008g0077others(4): Show | 7 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.2161-401dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | INFO_REALIGN_3_PRIME | chr9 | 138012714 | |||||
| chr9:138012797
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2161-332C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138012797 | ||||||
| chr9:138013026
|
A | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2161-103A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 17/46 | chr9 | 138013026 | ||||||
| chr9:138013249
|
GA | G | 5 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(2): Show | 5 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.2267+15delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138013249 | ||||||
| chr9:138013260
|
G | C | 1 | a0002c0001t0003g0023 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2267+25G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138013260 | ||||||
| chr9:138013511
|
G | C | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2267+276G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138013511 | ||||||
| chr9:138013548
|
T | C | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2267+313T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138013548 | ||||||
| chr9:138013827
|
A | C | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.2267+592A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138013827 | ||||||
| chr9:138014016
|
C | T | 1 | a0001c0009t0003g0022 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.2267+781C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014016 | ||||||
| chr9:138014068
|
G | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.2267+833G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014068 | ||||||
| chr9:138014073
|
G | A | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2267+838G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014073 | ||||||
| chr9:138014114
|
C | T | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2267+879C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014114 | ||||||
| chr9:138014290
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2267+1055C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014290 | ||||||
| chr9:138014473
|
G | A | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2267+1238G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014473 | ||||||
| chr9:138014596
|
T | G | 1 | a0007c0016t0007g0062 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2267+1361T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014596 | ||||||
| chr9:138014747
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2267+1512G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014747 | ||||||
| chr9:138014755
|
C | T | 1 | a0007c0016t0007g0062 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2267+1520C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138014755 | ||||||
| chr9:138014848
|
GCCAGGTC others(9): Show |
G | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2267+1615_2267+163 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138014848 | |||||
| chr9:138015036
|
G | A | 2 | a0001c0002t0004g0067a0001c0002t0004g0073 | 2 | NA18952.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.2267+1801G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015036 | ||||||
| chr9:138015038
|
G | A | 1 | a0007c0016t0007g0054 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2267+1803G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015038 | ||||||
| chr9:138015065
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2267+1830G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015065 | ||||||
| chr9:138015174
|
G | A | 8 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(5): Show | 8 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+1939G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015174 | ||||||
| chr9:138015193
|
C | T | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.2267+1958C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015193 | ||||||
| chr9:138015209
|
C | T | 4 | a0002c0001t0001g0165a0002c0001t0001g0214a0002c0001t0002g0167others(1): Show | 4 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(1): Show |
intron_variant | MODIFIER | c.2267+1974C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015209 | ||||||
| chr9:138015226
|
C | G | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.2267+1991C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015226 | ||||||
| chr9:138015345
|
C | T | 128 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(125): Show | 128 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(125): Show |
intron_variant | MODIFIER | c.2267+2110C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015345 | ||||||
| chr9:138015406
|
TTGTGCTG others(171): Show |
T | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+2179_2267+235 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138015406 | |||||
| chr9:138015544
|
C | T | 1 | a0002c0004t0001g0187 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2267+2309C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015544 | ||||||
| chr9:138015564
|
C | G | 1 | a0001c0007t0001g0034 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2267+2329C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015564 | ||||||
| chr9:138015737
|
C | A | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2267+2502C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015737 | ||||||
| chr9:138015742
|
G | A | 13 | a0001c0002t0001g0039a0001c0002t0001g0069a0001c0002t0001g0212others(10): Show | 13 | HG00280.hp2 HG00621.hp1 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.2267+2507G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015742 | ||||||
| chr9:138015814
|
C | T | 1 | a0003c0006t0002g0152 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2267+2579C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015814 | ||||||
| chr9:138015865
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2267+2630C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138015865 | ||||||
| chr9:138016321
|
C | G | 1 | a0001c0002t0001g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2267+3086C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016321 | ||||||
| chr9:138016357
|
G | A | 2 | a0002c0020t0002g0200a0002c0020t0002g0216 | 2 | HG02145.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2267+3122G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016357 | ||||||
| chr9:138016645
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2267+3410C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016645 | ||||||
| chr9:138016653
|
G | T | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2267+3418G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016653 | ||||||
| chr9:138016666
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2267+3431G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016666 | ||||||
| chr9:138016700
|
C | T | 1 | a0007c0016t0007g0062 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2267+3465C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016700 | ||||||
| chr9:138016705
|
C | T | 8 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(5): Show | 8 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+3470C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016705 | ||||||
| chr9:138016747
|
C | A | 136 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(133): Show | 136 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.2267+3512C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016747 | ||||||
| chr9:138016766
|
C | T | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+3531C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016766 | ||||||
| chr9:138016983
|
G | A | 2 | a0001c0002t0001g0035a0001c0007t0003g0047 | 2 | HG00544.hp2 HG02056.hp2 |
intron_variant | MODIFIER | c.2267+3748G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138016983 | ||||||
| chr9:138017218
|
C | T | 127 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(124): Show | 127 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.2267+3983C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017218 | ||||||
| chr9:138017344
|
C | T | 15 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(12): Show | 15 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.2267+4109C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017344 | ||||||
| chr9:138017370
|
T | C | 132 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(129): Show | 132 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(129): Show |
intron_variant | MODIFIER | c.2267+4135T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017370 | ||||||
| chr9:138017379
|
G | T | 27 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.2267+4144G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017379 | ||||||
| chr9:138017746
|
C | T | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2267+4511C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017746 | ||||||
| chr9:138017838
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2267+4603G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017838 | ||||||
| chr9:138017855
|
A | G | 1 | a0001c0003t0010g0134 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2267+4620A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017855 | ||||||
| chr9:138017889
|
T | TGAAGTGG others(30): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2267+4662_2267+469 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017889 | |||||
| chr9:138017889
|
T | TGAAGTGG others(215): Show |
1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2267+4698_2267+469 others(226): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017889 | |||||
| chr9:138017897
|
T | C | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2267+4662T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017897 | ||||||
| chr9:138017897
|
T | TCAGGTGC others(511): Show |
1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2267+4735_2267+473 others(522): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
T | TCAGGTGC others(400): Show |
3 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0055t0022g0009 | 3 | HG01884.hp1 HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2267+4698_2267+469 others(411): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
T | TCAGGTGC others(1140): Show |
1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2267+4698_2267+469 others(1151): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
T | TCAGGTGC others(1880): Show |
1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2267+4698_2267+469 others(1891): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(67): Show |
T | 26 | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0002t0001g0064others(23): Show | 26 | HG00609.hp2 HG00673.hp2 HG01256.hp1 others(23): Show |
intron_variant | MODIFIER | c.2267+4699_2267+477 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(252): Show |
T | 1 | a0002c0001t0029g0189 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2267+4773_2268-474 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(289): Show |
T | 1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2267+4773_2268-470 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(363): Show |
T | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2267+4773_2268-463 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(548): Show |
T | 2 | a0002c0004t0001g0179a0003c0006t0002g0139 | 2 | HG01109.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.2267+4773_2268-444 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(918): Show |
T | 6 | a0002c0001t0001g0221a0002c0001t0002g0226a0002c0001t0035g0232others(3): Show | 6 | HG01255.hp1 HG02015.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2267+4773_2268-407 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(955): Show |
T | 3 | a0002c0001t0005g0231a0002c0004t0001g0213a0010c0040t0002g0230 | 3 | HG02976.hp2 HG03453.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2267+4773_2268-404 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(1029): Show |
T | 9 | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(6): Show | 9 | HG02015.hp2 HG02895.hp2 HG03139.hp2 others(6): Show |
intron_variant | MODIFIER | c.2267+4773_2268-396 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(1066): Show |
T | 88 | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0061others(85): Show | 88 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.2267+4773_2268-393 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(1103): Show |
T | 5 | a0001c0002t0001g0035a0001c0002t0001g0186a0001c0007t0003g0038others(2): Show | 5 | HG00544.hp2 HG02080.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.2267+4773_2268-389 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017897
|
TCAGGTGC others(1288): Show |
T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2267+4773_2268-370 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017897 | |||||
| chr9:138017934
|
C | T | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+4699C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017934 | ||||||
| chr9:138017971
|
C | CCAGGTGC others(252): Show |
2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2267+4809_2267+481 others(263): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138017971 | |||||
| chr9:138017971
|
C | T | 1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2267+4736C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138017971 | ||||||
| chr9:138018008
|
T | C | 6 | a0002c0004t0001g0019a0004c0023t0008g0077a0004c0029t0036g0206others(3): Show | 6 | HG01099.hp2 HG01109.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.2267+4773T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018008 | ||||||
| chr9:138018008
|
T | TCAGGTGC others(215): Show |
1 | a0002c0004t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2268-3627_2268-340 others(226): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
T | TCAGGTGC others(363): Show |
1 | a0004c0055t0022g0009 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2268-3775_2268-340 others(374): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
T | TCAGGTGC others(400): Show |
2 | a0004c0025t0013g0217a0004c0025t0022g0010 | 2 | HG01884.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2268-3812_2268-340 others(411): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
T | TCAGGTGC others(770): Show |
1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2268-4182_2268-340 others(781): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
T | TCAGGTGC others(807): Show |
1 | a0002c0008t0001g0174 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2268-4219_2268-340 others(818): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(30): Show |
T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2268-3442_2268-340 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(67): Show |
T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2268-3479_2268-340 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(104): Show |
T | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2268-3516_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(215): Show |
T | 8 | a0001c0044t0005g0239a0002c0004t0001g0168a0002c0004t0026g0207others(5): Show | 8 | HG00597.hp2 HG02135.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.2268-3627_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(252): Show |
T | 2 | a0003c0006t0002g0152a0003c0006t0008g0145 | 2 | HG00642.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.2268-3664_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(289): Show |
T | 10 | a0002c0001t0001g0163a0002c0001t0001g0165a0002c0001t0001g0214others(7): Show | 10 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(7): Show |
intron_variant | MODIFIER | c.2268-3701_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(326): Show |
T | 6 | a0002c0001t0001g0036a0002c0001t0001g0166a0002c0001t0001g0173others(3): Show | 6 | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2268-3738_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(363): Show |
T | 1 | a0002c0001t0001g0180 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2268-3775_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(400): Show |
T | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2268-3812_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(474): Show |
T | 18 | a0002c0001t0002g0042a0002c0001t0002g0157a0002c0001t0002g0159others(15): Show | 18 | HG00609.hp1 HG00621.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.2268-3886_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(511): Show |
T | 9 | a0002c0001t0001g0234a0002c0001t0002g0055a0002c0001t0002g0188others(6): Show | 9 | HG01258.hp2 HG01943.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.2268-3923_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(548): Show |
T | 1 | a0002c0001t0002g0223 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2268-3960_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(585): Show |
T | 2 | a0003c0006t0002g0153a0003c0006t0039g0148 | 2 | HG00738.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2268-3997_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(659): Show |
T | 7 | a0002c0001t0002g0196a0002c0004t0005g0195a0002c0004t0007g0176others(4): Show | 7 | HG02559.hp2 HG02809.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.2268-4071_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(696): Show |
T | 1 | a0002c0010t0010g0204 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2268-4108_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(807): Show |
T | 2 | a0002c0004t0005g0133a0003c0006t0002g0138 | 2 | HG00639.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2268-4219_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(844): Show |
T | 1 | a0002c0004t0001g0187 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2268-4256_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(881): Show |
T | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2268-4293_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(918): Show |
T | 1 | a0001c0003t0005g0130 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2268-4330_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(992): Show |
T | 20 | a0001c0002t0001g0057a0001c0002t0001g0064a0001c0002t0001g0103others(17): Show | 20 | HG00609.hp2 HG01256.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.2268-4404_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(1029): Show |
T | 3 | a0001c0002t0001g0058a0001c0005t0004g0086a0001c0007t0003g0037 | 3 | HG00673.hp2 HG01943.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.2268-4441_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(1066): Show |
T | 6 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.2268-4478_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018008
|
TCAGGTGC others(1103): Show |
T | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2268-4515_2268-340 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018008 | |||||
| chr9:138018045
|
C | T | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2267+4810C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018045 | ||||||
| chr9:138018075
|
G | C | 3 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143 | 3 | HG01891.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2267+4840G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018075 | ||||||
| chr9:138018082
|
C | T | 3 | a0005c0038t0023g0020a0005c0039t0032g0079a0006c0026t0006g0144 | 3 | HG02886.hp1 HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2267+4847C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018082 | ||||||
| chr9:138018119
|
C | T | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0054t0008g0013others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2267+4884C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018119 | ||||||
| chr9:138018156
|
C | CCAGGTGC others(770): Show |
1 | a0002c0004t0001g0202 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2268-4079_2268-407 others(781): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018156 | |||||
| chr9:138018156
|
C | T | 1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2268-4855C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018156 | ||||||
| chr9:138018193
|
C | T | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.2268-4818C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018193 | ||||||
| chr9:138018230
|
C | T | 7 | a0004c0023t0042g0076a0004c0043t0009g0078a0005c0038t0023g0020others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.2268-4781C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018230 | ||||||
| chr9:138018267
|
C | T | 6 | a0001c0044t0005g0239a0004c0023t0042g0076a0004c0043t0009g0078others(3): Show | 6 | HG01891.hp1 HG02809.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2268-4744C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018267 | ||||||
| chr9:138018304
|
C | T | 5 | a0004c0023t0042g0076a0004c0043t0009g0078a0006c0014t0006g0140others(2): Show | 5 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2268-4707C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018304 | ||||||
| chr9:138018341
|
C | T | 1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2268-4670C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018341 | ||||||
| chr9:138018378
|
C | T | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.2268-4633C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018378 | ||||||
| chr9:138018415
|
C | T | 3 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0026t0006g0144 | 3 | HG02886.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4596C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018415 | ||||||
| chr9:138018452
|
C | T | 2 | a0004c0023t0042g0076a0006c0026t0006g0144 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2268-4559C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018452 | ||||||
| chr9:138018489
|
C | T | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4522C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018489 | ||||||
| chr9:138018517
|
T | TGGAAGTG others(326): Show |
1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4449_2268-444 others(337): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018517 | |||||
| chr9:138018526
|
C | T | 1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2268-4485C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018526 | ||||||
| chr9:138018554
|
T | C | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4457T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018554 | ||||||
| chr9:138018563
|
C | T | 2 | a0004c0023t0042g0076a0006c0026t0006g0144 | 2 | HG02886.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2268-4448C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018563 | ||||||
| chr9:138018591
|
T | C | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4420T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018591 | ||||||
| chr9:138018628
|
T | C | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4383T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018628 | ||||||
| chr9:138018637
|
C | T | 5 | a0003c0006t0002g0141a0004c0023t0042g0076a0004c0043t0009g0078others(2): Show | 5 | HG01261.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2268-4374C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018637 | ||||||
| chr9:138018665
|
T | C | 3 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140 | 3 | HG01891.hp1 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4346T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018665 | ||||||
| chr9:138018674
|
C | CCAGGTGC others(30): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2268-4301_2268-430 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018674 | |||||
| chr9:138018674
|
C | T | 2 | a0004c0023t0042g0076a0004c0043t0009g0078 | 2 | HG02896.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2268-4337C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018674 | ||||||
| chr9:138018702
|
T | C | 4 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(1): Show | 4 | HG01891.hp1 HG02886.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-4309T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018702 | ||||||
| chr9:138018711
|
C | T | 2 | a0006c0014t0006g0142a0006c0014t0006g0143 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2268-4300C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018711 | ||||||
| chr9:138018726
|
C | A | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4285C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018726 | ||||||
| chr9:138018736
|
T | C | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2268-4275T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018736 | ||||||
| chr9:138018739
|
T | C | 4 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(1): Show | 4 | HG01891.hp1 HG02886.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-4272T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018739 | ||||||
| chr9:138018748
|
C | T | 3 | a0004c0023t0042g0076a0006c0014t0006g0142a0006c0014t0006g0143 | 3 | HG02895.hp1 HG02897.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2268-4263C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018748 | ||||||
| chr9:138018763
|
C | A | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4248C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018763 | ||||||
| chr9:138018773
|
T | C | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2268-4238T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018773 | ||||||
| chr9:138018776
|
T | C | 4 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(1): Show | 4 | HG01891.hp1 HG02886.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-4235T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018776 | ||||||
| chr9:138018785
|
C | CCAGGTGC others(67): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2268-4190_2268-418 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018785 | |||||
| chr9:138018785
|
C | T | 2 | a0004c0023t0042g0076a0004c0043t0009g0078 | 2 | HG02896.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2268-4226C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018785 | ||||||
| chr9:138018810
|
T | C | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2268-4201T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018810 | ||||||
| chr9:138018813
|
T | C | 5 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0054t0008g0013others(2): Show | 5 | HG01891.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2268-4198T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018813 | ||||||
| chr9:138018822
|
C | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2268-4189C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018822 | ||||||
| chr9:138018837
|
C | A | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4174C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018837 | ||||||
| chr9:138018850
|
T | C | 4 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(1): Show | 4 | HG01891.hp1 HG02886.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-4161T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018850 | ||||||
| chr9:138018874
|
C | A | 1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-4137C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018874 | ||||||
| chr9:138018887
|
T | C | 6 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(3): Show | 6 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2268-4124T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018887 | ||||||
| chr9:138018896
|
C | CCAGGTGC others(881): Show |
1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2268-4088_2268-408 others(892): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018896 | |||||
| chr9:138018896
|
C | CCAGGTGC others(955): Show |
1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2268-4088_2268-408 others(966): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018896 | |||||
| chr9:138018911
|
C | A | 2 | a0006c0014t0006g0140a0006c0026t0006g0144 | 2 | HG01891.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2268-4100C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018911 | ||||||
| chr9:138018924
|
T | C | 7 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(4): Show | 7 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2268-4087T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018924 | ||||||
| chr9:138018933
|
C | CCAGGTGC others(141): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2268-4005_2268-400 others(152): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018933 | |||||
| chr9:138018933
|
C | T | 1 | a0002c0004t0001g0175 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2268-4078C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018933 | ||||||
| chr9:138018948
|
C | A | 1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2268-4063C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018948 | ||||||
| chr9:138018961
|
T | C | 7 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(4): Show | 7 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2268-4050T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018961 | ||||||
| chr9:138018970
|
C | CCAGGTGC others(548): Show |
2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-4027_2268-402 others(559): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018970 | |||||
| chr9:138018970
|
C | CCAGGTGC others(881): Show |
1 | a0006c0014t0006g0143 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2268-4014_2268-401 others(892): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138018970 | |||||
| chr9:138018970
|
C | T | 10 | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(7): Show | 10 | HG02015.hp2 HG02257.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.2268-4041C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018970 | ||||||
| chr9:138018998
|
T | C | 7 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(4): Show | 7 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2268-4013T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138018998 | ||||||
| chr9:138019007
|
C | T | 92 | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0061others(89): Show | 92 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.2268-4004C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019007 | ||||||
| chr9:138019035
|
T | C | 5 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(2): Show | 5 | HG01891.hp1 HG02886.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.2268-3976T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019035 | ||||||
| chr9:138019044
|
C | CCAGGTGC others(807): Show |
1 | a0006c0014t0006g0142 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.2268-3940_2268-393 others(818): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019044 | |||||
| chr9:138019044
|
C | T | 8 | a0001c0002t0001g0035a0001c0002t0001g0186a0001c0007t0003g0038others(5): Show | 8 | HG00544.hp2 HG02080.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.2268-3967C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019044 | ||||||
| chr9:138019072
|
T | C | 5 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(2): Show | 5 | HG01891.hp1 HG02886.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.2268-3939T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019072 | ||||||
| chr9:138019081
|
C | CCAGGTGC others(548): Show |
1 | a0006c0014t0006g0140 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2268-3916_2268-391 others(559): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019081 | |||||
| chr9:138019081
|
C | CCAGGTGC others(585): Show |
1 | a0006c0026t0006g0144 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2268-3903_2268-390 others(596): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019081 | |||||
| chr9:138019081
|
C | T | 1 | a0001c0003t0005g0130 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2268-3930C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019081 | ||||||
| chr9:138019109
|
T | C | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-3902T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019109 | ||||||
| chr9:138019118
|
C | T | 8 | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(5): Show | 8 | HG02015.hp2 HG02895.hp2 NA18939.hp2 others(5): Show |
intron_variant | MODIFIER | c.2268-3893C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019118 | ||||||
| chr9:138019146
|
T | C | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2268-3865T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019146 | ||||||
| chr9:138019155
|
C | T | 95 | a0001c0002t0001g0039a0001c0002t0001g0057a0001c0002t0001g0060others(92): Show | 95 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.2268-3856C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019155 | ||||||
| chr9:138019192
|
C | CCAGGTGC others(30): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2268-3783_2268-378 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019192 | |||||
| chr9:138019192
|
C | T | 7 | a0001c0002t0001g0035a0001c0002t0001g0058a0001c0002t0001g0186others(4): Show | 7 | HG00544.hp2 HG00673.hp2 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.2268-3819C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019192 | ||||||
| chr9:138019229
|
C | T | 4 | a0001c0003t0005g0130a0005c0024t0011g0160a0005c0024t0011g0162others(1): Show | 4 | HG02257.hp2 HG02486.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2268-3782C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019229 | ||||||
| chr9:138019266
|
C | T | 8 | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0073others(5): Show | 8 | HG02015.hp2 HG02895.hp2 NA18939.hp2 others(5): Show |
intron_variant | MODIFIER | c.2268-3745C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019266 | ||||||
| chr9:138019303
|
C | T | 85 | a0001c0002t0001g0057a0001c0002t0001g0060a0001c0002t0001g0061others(82): Show | 85 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.2268-3708C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019303 | ||||||
| chr9:138019340
|
C | T | 9 | a0001c0002t0001g0035a0001c0002t0001g0058a0001c0002t0001g0186others(6): Show | 9 | HG00544.hp2 HG00673.hp2 HG01943.hp1 others(6): Show |
intron_variant | MODIFIER | c.2268-3671C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019340 | ||||||
| chr9:138019377
|
C | CCAGGTGC others(659): Show |
1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2268-3598_2268-359 others(670): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019377 | |||||
| chr9:138019377
|
C | CCAGGTGC others(67): Show |
2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2268-3598_2268-359 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019377 | |||||
| chr9:138019377
|
C | T | 4 | a0004c0023t0042g0076a0005c0024t0011g0160a0005c0024t0011g0162others(1): Show | 4 | HG02486.hp2 HG02895.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-3634C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019377 | ||||||
| chr9:138019414
|
C | CCAGGTGC others(67): Show |
3 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0026t0006g0144 | 3 | HG01891.hp1 HG02886.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2268-3561_2268-356 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019414 | |||||
| chr9:138019414
|
C | T | 2 | a0006c0014t0006g0143a0020c0052t0006g0115 | 2 | HG02257.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2268-3597C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019414 | ||||||
| chr9:138019488
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2268-3523C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019488 | ||||||
| chr9:138019525
|
C | CCAGGTGC others(30): Show |
6 | a0004c0042t0008g0121a0004c0054t0008g0013a0006c0014t0006g0140others(3): Show | 6 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2268-3450_2268-344 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019525 | |||||
| chr9:138019562
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2268-3449C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019562 | ||||||
| chr9:138019599
|
C | CCAGGTGC others(141): Show |
2 | a0008c0019t0017g0124a0008c0019t0017g0125 | 2 | NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2268-3406_2268-340 others(152): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019599 | |||||
| chr9:138019599
|
C | CCAGGTGC others(67): Show |
1 | a0008c0019t0025g0126 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2268-3406_2268-340 others(78): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019599 | |||||
| chr9:138019639
|
GCCGCC | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2268-3369_2268-336 others(9): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019639 | |||||
| chr9:138019641
|
C | T | 130 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(127): Show | 130 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.2268-3370C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019641 | ||||||
| chr9:138019644
|
C | CCCTG | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.2268-3365_2268-336 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138019644 | |||||
| chr9:138019672
|
G | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.2268-3339G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019672 | ||||||
| chr9:138019716
|
T | C | 1 | a0002c0020t0002g0216 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2268-3295T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019716 | ||||||
| chr9:138019786
|
G | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.2268-3225G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019786 | ||||||
| chr9:138019821
|
G | A | 17 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(14): Show | 17 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.2268-3190G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019821 | ||||||
| chr9:138019824
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.2268-3187C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019824 | ||||||
| chr9:138019852
|
C | G | 2 | a0002c0001t0002g0228a0002c0001t0003g0023 | 2 | HG01243.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.2268-3159C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019852 | ||||||
| chr9:138019910
|
C | A | 1 | a0016c0030t0003g0097 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2268-3101C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138019910 | ||||||
| chr9:138020045
|
C | T | 3 | a0002c0001t0001g0234a0002c0001t0002g0235a0013c0034t0008g0236 | 3 | HG03834.hp1 NA18612.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.2268-2966C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020045 | ||||||
| chr9:138020098
|
C | CA | 16 | a0002c0001t0002g0188a0002c0001t0003g0023a0002c0001t0041g0177others(13): Show | 16 | HG00597.hp2 HG01109.hp2 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.2268-2892dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138020098 | |||||
| chr9:138020098
|
CA | C | 29 | a0001c0002t0001g0123a0001c0002t0001g0212a0001c0002t0002g0046others(26): Show | 29 | HG00621.hp1 HG00673.hp1 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.2268-2892delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138020098 | |||||
| chr9:138020098
|
CAA | C | 112 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(109): Show | 112 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(109): Show |
intron_variant | MODIFIER | c.2268-2893_2268-289 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138020098 | |||||
| chr9:138020098
|
CAAA | C | 8 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0175others(5): Show | 8 | HG01433.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.2268-2894_2268-289 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138020098 | |||||
| chr9:138020221
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2268-2790G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020221 | ||||||
| chr9:138020505
|
G | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2268-2506G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020505 | ||||||
| chr9:138020565
|
C | T | 1 | a0001c0002t0001g0039 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2268-2446C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020565 | ||||||
| chr9:138020603
|
C | T | 1 | a0002c0001t0001g0036 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2268-2408C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020603 | ||||||
| chr9:138020608
|
G | A | 4 | a0003c0006t0002g0138a0003c0006t0002g0139a0003c0006t0002g0141others(1): Show | 4 | HG00639.hp1 HG01109.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.2268-2403G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020608 | ||||||
| chr9:138020631
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2268-2380C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020631 | ||||||
| chr9:138020820
|
C | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2268-2191C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020820 | ||||||
| chr9:138020972
|
G | A | 17 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(14): Show | 17 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.2268-2039G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138020972 | ||||||
| chr9:138021150
|
G | A | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2268-1861G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021150 | ||||||
| chr9:138021470
|
G | C | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2268-1541G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021470 | ||||||
| chr9:138021493
|
G | A | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2268-1518G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021493 | ||||||
| chr9:138021540
|
C | T | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.2268-1471C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021540 | ||||||
| chr9:138021558
|
G | A | 2 | a0002c0001t0001g0208a0002c0001t0001g0209 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2268-1453G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021558 | ||||||
| chr9:138021646
|
T | C | 1 | a0001c0051t0007g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2268-1365T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021646 | ||||||
| chr9:138021915
|
G | A | 127 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(124): Show | 127 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.2268-1096G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138021915 | ||||||
| chr9:138022123
|
C | T | 1 | a0002c0004t0007g0176 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2268-888C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022123 | ||||||
| chr9:138022356
|
G | A | 9 | a0001c0003t0005g0021a0001c0003t0005g0107a0001c0003t0005g0130others(6): Show | 9 | HG01261.hp2 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2268-655G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022356 | ||||||
| chr9:138022370
|
G | C | 7 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(4): Show | 7 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2268-641G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022370 | ||||||
| chr9:138022537
|
C | T | 1 | a0002c0001t0035g0232 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2268-474C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022537 | ||||||
| chr9:138022805
|
T | TG | 45 | a0002c0001t0001g0036a0002c0001t0001g0173a0002c0001t0001g0180others(42): Show | 45 | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(42): Show |
intron_variant | MODIFIER | c.2268-194dupG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138022805 | |||||
| chr9:138022805
|
T | TGG | 16 | a0002c0001t0002g0042a0002c0001t0002g0188a0002c0001t0002g0190others(13): Show | 16 | HG00639.hp1 HG00642.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.2268-195_2268-194d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138022805 | |||||
| chr9:138022805
|
TGG | T | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.2268-195_2268-194d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138022805 | |||||
| chr9:138022805
|
TGGGG | T | 28 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(25): Show | 28 | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(25): Show |
intron_variant | MODIFIER | c.2268-197_2268-194d others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | 138022805 | |||||
| chr9:138022808
|
G | T | 1 | a0001c0002t0001g0212 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2268-203G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022808 | ||||||
| chr9:138022809
|
G | T | 125 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(122): Show | 125 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.2268-202G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022809 | ||||||
| chr9:138022875
|
G | T | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2268-136G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022875 | ||||||
| chr9:138022939
|
G | C | 28 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(25): Show | 28 | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(25): Show |
intron_variant | MODIFIER | c.2268-72G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022939 | ||||||
| chr9:138022965
|
G | A | 1 | a0002c0001t0001g0166 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2268-46G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | chr9 | 138022965 | ||||||
| chr9:138023834
|
T | A | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.3068+23T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138023834 | ||||||
| chr9:138023843
|
G | A | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3068+32G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138023843 | ||||||
| chr9:138023848
|
G | C | 126 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.3068+37G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138023848 | ||||||
| chr9:138023919
|
C | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3068+108C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138023919 | ||||||
| chr9:138024243
|
G | A | 2 | a0001c0003t0007g0106a0001c0003t0044g0011 | 2 | HG02717.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3068+432G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024243 | ||||||
| chr9:138024253
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.3068+442C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024253 | ||||||
| chr9:138024420
|
G | A | 1 | a0003c0006t0002g0139 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3069-535G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024420 | ||||||
| chr9:138024439
|
C | T | 1 | a0003c0006t0002g0152 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3069-516C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024439 | ||||||
| chr9:138024668
|
G | C | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3069-287G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024668 | ||||||
| chr9:138024777
|
T | C | 5 | a0002c0001t0002g0157a0002c0001t0002g0181a0002c0001t0002g0188others(2): Show | 5 | HG00621.hp2 NA18963.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.3069-178T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024777 | ||||||
| chr9:138024900
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3069-55G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024900 | ||||||
| chr9:138024910
|
G | T | 20 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(17): Show | 20 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.3069-45G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 19/46 | chr9 | 138024910 | ||||||
| chr9:138025454
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3286+282A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138025454 | ||||||
| chr9:138025719
|
C | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.3286+547C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138025719 | ||||||
| chr9:138025735
|
G | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.3286+563G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138025735 | ||||||
| chr9:138025827
|
C | T | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3286+655C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138025827 | ||||||
| chr9:138026075
|
C | T | 62 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(59): Show | 62 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.3286+903C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026075 | ||||||
| chr9:138026160
|
C | T | 1 | a0001c0005t0004g0090 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.3286+988C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026160 | ||||||
| chr9:138026324
|
C | T | 1 | a0001c0005t0004g0184 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.3286+1152C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026324 | ||||||
| chr9:138026368
|
C | T | 1 | a0001c0002t0011g0052 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3286+1196C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026368 | ||||||
| chr9:138026395
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3286+1223C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026395 | ||||||
| chr9:138026610
|
T | C | 1 | a0002c0001t0001g0214 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3286+1438T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026610 | ||||||
| chr9:138026632
|
T | C | 63 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(60): Show | 63 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(60): Show |
intron_variant | MODIFIER | c.3286+1460T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026632 | ||||||
| chr9:138026850
|
A | G | 7 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(4): Show | 7 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.3286+1678A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026850 | ||||||
| chr9:138026898
|
A | C | 6 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.3286+1726A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026898 | ||||||
| chr9:138026919
|
C | A | 5 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0087others(2): Show | 5 | HG00673.hp1 NA18980.hp1 NA19007.hp2 others(2): Show |
intron_variant | MODIFIER | c.3286+1747C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138026919 | ||||||
| chr9:138027418
|
A | G | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3286+2246A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138027418 | ||||||
| chr9:138027594
|
G | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3286+2422G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138027594 | ||||||
| chr9:138027911
|
A | T | 82 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(79): Show | 82 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(79): Show |
intron_variant | MODIFIER | c.3286+2739A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138027911 | ||||||
| chr9:138028023
|
C | CT | 61 | a0001c0002t0001g0035a0001c0002t0001g0212a0001c0002t0013g0012others(58): Show | 61 | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.3286+2879dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138028023 | |||||
| chr9:138028023
|
C | CTT | 9 | a0001c0005t0004g0007a0001c0005t0004g0082a0001c0005t0004g0083others(6): Show | 9 | HG00597.hp1 HG02074.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.3286+2878_3286+287 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138028023 | |||||
| chr9:138028023
|
C | T | 1 | a0002c0020t0002g0216 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3286+2851C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028023 | ||||||
| chr9:138028023
|
CT | C | 11 | a0001c0002t0037g0242a0001c0003t0010g0134a0001c0012t0001g0031others(8): Show | 11 | HG01069.hp1 HG01069.hp2 HG01256.hp1 others(8): Show |
intron_variant | MODIFIER | c.3286+2879delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138028023 | |||||
| chr9:138028023
|
CTTTTTTT others(7): Show |
C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+2866_3286+287 others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138028023 | |||||
| chr9:138028023
|
CTTTTTTT others(9): Show |
C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3286+2864_3286+287 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138028023 | |||||
| chr9:138028057
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+2885T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028057 | ||||||
| chr9:138028081
|
T | C | 6 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.3286+2909T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028081 | ||||||
| chr9:138028231
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3286+3059C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028231 | ||||||
| chr9:138028242
|
T | C | 84 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(81): Show | 84 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(81): Show |
intron_variant | MODIFIER | c.3286+3070T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028242 | ||||||
| chr9:138028282
|
C | T | 2 | a0001c0003t0034g0109a0001c0051t0007g0108 | 2 | HG01243.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3286+3110C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028282 | ||||||
| chr9:138028442
|
A | C | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3286+3270A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028442 | ||||||
| chr9:138028668
|
G | A | 1 | a0004c0055t0022g0009 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3286+3496G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028668 | ||||||
| chr9:138028915
|
C | G | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3286+3743C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138028915 | ||||||
| chr9:138029011
|
A | G | 1 | a0001c0007t0003g0074 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.3286+3839A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029011 | ||||||
| chr9:138029109
|
G | A | 20 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(17): Show | 20 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.3286+3937G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029109 | ||||||
| chr9:138029555
|
G | T | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3286+4383G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029555 | ||||||
| chr9:138029609
|
CT | C | 223 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(220): Show | 223 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(220): Show |
intron_variant | MODIFIER | c.3286+4455delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138029609 | |||||
| chr9:138029609
|
CTT | C | 14 | a0002c0001t0002g0211a0002c0001t0035g0232a0002c0004t0001g0213others(11): Show | 14 | HG01109.hp2 HG01515.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.3286+4454_3286+445 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138029609 | |||||
| chr9:138029627
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+4455T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029627 | ||||||
| chr9:138029711
|
A | G | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3286+4539A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029711 | ||||||
| chr9:138029889
|
G | A | 17 | a0004c0023t0008g0077a0004c0023t0042g0076a0004c0025t0013g0217others(14): Show | 17 | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.3286+4717G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029889 | ||||||
| chr9:138029931
|
C | T | 83 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(80): Show | 83 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.3286+4759C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029931 | ||||||
| chr9:138029936
|
T | G | 83 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(80): Show | 83 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.3286+4764T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029936 | ||||||
| chr9:138029937
|
T | A | 83 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(80): Show | 83 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.3286+4765T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029937 | ||||||
| chr9:138029942
|
A | G | 1 | a0008c0019t0017g0124 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.3286+4770A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138029942 | ||||||
| chr9:138030013
|
G | A | 63 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(60): Show | 63 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.3286+4841G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138030013 | ||||||
| chr9:138030281
|
G | C | 1 | a0007c0016t0007g0205 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3286+5109G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138030281 | ||||||
| chr9:138030381
|
T | C | 1 | a0001c0003t0005g0016 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3286+5209T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138030381 | ||||||
| chr9:138030653
|
A | G | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3286+5481A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138030653 | ||||||
| chr9:138031108
|
T | G | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.3286+5936T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138031108 | ||||||
| chr9:138031327
|
A | G | 8 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(5): Show | 8 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.3286+6155A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138031327 | ||||||
| chr9:138031502
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+6330A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138031502 | ||||||
| chr9:138031951
|
TTCTG | T | 10 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(7): Show | 10 | HG01891.hp1 HG02486.hp2 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3286+6783_3286+678 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138031951 | |||||
| chr9:138031977
|
A | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+6805A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138031977 | ||||||
| chr9:138032034
|
T | G | 8 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(5): Show | 8 | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.3286+6862T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032034 | ||||||
| chr9:138032049
|
C | T | 83 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(80): Show | 83 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.3286+6877C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032049 | ||||||
| chr9:138032145
|
G | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3286+6973G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032145 | ||||||
| chr9:138032280
|
G | A | 1 | a0002c0008t0003g0219 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.3286+7108G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032280 | ||||||
| chr9:138032401
|
C | A | 80 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(77): Show | 80 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(77): Show |
intron_variant | MODIFIER | c.3286+7229C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032401 | ||||||
| chr9:138032477
|
G | T | 84 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(81): Show | 84 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(81): Show |
intron_variant | MODIFIER | c.3286+7305G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032477 | ||||||
| chr9:138032895
|
A | G | 10 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(7): Show | 10 | HG01891.hp1 HG02486.hp2 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3286+7723A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138032895 | ||||||
| chr9:138033007
|
G | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3286+7835G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033007 | ||||||
| chr9:138033147
|
G | A | 1 | a0002c0001t0002g0042 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.3286+7975G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033147 | ||||||
| chr9:138033548
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3286+8376G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033548 | ||||||
| chr9:138033609
|
C | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3286+8437C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033609 | ||||||
| chr9:138033755
|
C | A | 62 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(59): Show | 62 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.3286+8583C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033755 | ||||||
| chr9:138033998
|
A | G | 1 | a0001c0007t0003g0045 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.3286+8826A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138033998 | ||||||
| chr9:138034071
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3286+8899C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034071 | ||||||
| chr9:138034079
|
C | T | 2 | a0001c0003t0007g0106a0001c0003t0044g0011 | 2 | HG02717.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3286+8907C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034079 | ||||||
| chr9:138034163
|
A | G | 31 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(28): Show | 31 | HG01243.hp2 HG01261.hp2 HG02145.hp2 others(28): Show |
intron_variant | MODIFIER | c.3286+8991A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034163 | ||||||
| chr9:138034219
|
A | G | 2 | a0002c0001t0001g0221a0002c0001t0001g0222 | 2 | HG01256.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.3286+9047A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034219 | ||||||
| chr9:138034223
|
A | G | 83 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(80): Show | 83 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.3286+9051A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034223 | ||||||
| chr9:138034437
|
A | G | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.3286+9265A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034437 | ||||||
| chr9:138034449
|
G | GT | 10 | a0001c0003t0007g0111a0001c0007t0003g0038a0001c0009t0003g0022others(7): Show | 10 | HG02257.hp2 HG02615.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.3286+9293dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138034449 | |||||
| chr9:138034449
|
GT | G | 9 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(6): Show | 9 | HG01891.hp1 HG02486.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.3286+9293delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138034449 | |||||
| chr9:138034454
|
T | G | 3 | a0002c0001t0002g0228a0002c0001t0003g0023a0002c0001t0035g0232 | 3 | HG01243.hp1 HG02015.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.3286+9282T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034454 | ||||||
| chr9:138034484
|
G | A | 2 | a0001c0007t0003g0027a0001c0007t0003g0074 | 2 | HG00621.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.3287-9290G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034484 | ||||||
| chr9:138034814
|
A | G | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3287-8960A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138034814 | ||||||
| chr9:138035119
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3287-8655C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035119 | ||||||
| chr9:138035179
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3287-8595C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035179 | ||||||
| chr9:138035253
|
G | A | 2 | a0020c0052t0006g0115a0022c0028t0021g0156 | 2 | HG02257.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.3287-8521G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035253 | ||||||
| chr9:138035393
|
A | T | 1 | a0001c0002t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.3287-8381A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035393 | ||||||
| chr9:138035427
|
C | T | 1 | a0001c0002t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.3287-8347C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035427 | ||||||
| chr9:138035616
|
G | A | 6 | a0001c0009t0003g0022a0001c0009t0003g0092a0001c0009t0003g0093others(3): Show | 6 | NA18955.hp1 NA18991.hp1 NA18994.hp1 others(3): Show |
intron_variant | MODIFIER | c.3287-8158G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035616 | ||||||
| chr9:138035718
|
A | G | 1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3287-8056A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138035718 | ||||||
| chr9:138036081
|
G | A | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3287-7693G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036081 | ||||||
| chr9:138036178
|
C | T | 2 | a0002c0008t0003g0198a0002c0008t0003g0199 | 2 | NA18950.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.3287-7596C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036178 | ||||||
| chr9:138036179
|
G | A | 1 | a0002c0001t0001g0234 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3287-7595G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036179 | ||||||
| chr9:138036296
|
C | T | 2 | a0004c0023t0008g0077a0008c0019t0017g0124 | 2 | HG02976.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.3287-7478C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036296 | ||||||
| chr9:138036428
|
C | T | 68 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(65): Show | 68 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(65): Show |
intron_variant | MODIFIER | c.3287-7346C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036428 | ||||||
| chr9:138036439
|
T | C | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3287-7335T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036439 | ||||||
| chr9:138036519
|
T | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3287-7255T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036519 | ||||||
| chr9:138036537
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3287-7237A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036537 | ||||||
| chr9:138036653
|
A | G | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3287-7121A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036653 | ||||||
| chr9:138036657
|
A | G | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3287-7117A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036657 | ||||||
| chr9:138036836
|
C | T | 63 | a0001c0003t0005g0006a0001c0003t0005g0021a0001c0003t0005g0107others(60): Show | 63 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.3287-6938C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036836 | ||||||
| chr9:138036877
|
G | A | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3287-6897G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138036877 | ||||||
| chr9:138037084
|
C | G | 2 | a0002c0004t0001g0017a0002c0004t0001g0018 | 2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.3287-6690C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037084 | ||||||
| chr9:138037340
|
A | G | 3 | a0001c0002t0001g0103a0001c0002t0001g0104a0015c0049t0002g0100 | 3 | HG00438.hp2 NA18964.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.3287-6434A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037340 | ||||||
| chr9:138037456
|
C | A | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3287-6318C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037456 | ||||||
| chr9:138037613
|
C | T | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.3287-6161C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037613 | ||||||
| chr9:138037614
|
G | A | 1 | a0001c0002t0001g0069 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.3287-6160G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037614 | ||||||
| chr9:138037671
|
CA | C | 8 | a0002c0004t0001g0014a0002c0004t0001g0017a0002c0004t0001g0018others(5): Show | 8 | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.3287-6092delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138037671 | |||||
| chr9:138037701
|
C | T | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3287-6073C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037701 | ||||||
| chr9:138037732
|
G | A | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3287-6042G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037732 | ||||||
| chr9:138037999
|
G | A | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3287-5775G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138037999 | ||||||
| chr9:138038308
|
G | T | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3287-5466G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138038308 | ||||||
| chr9:138038729
|
G | T | 1 | a0001c0051t0007g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3287-5045G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138038729 | ||||||
| chr9:138038736
|
C | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3287-5038C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138038736 | ||||||
| chr9:138038827
|
C | T | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.3287-4947C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138038827 | ||||||
| chr9:138038952
|
A | G | 14 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0021others(11): Show | 14 | HG01243.hp2 HG01261.hp2 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3287-4822A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138038952 | ||||||
| chr9:138039026
|
A | G | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3287-4748A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039026 | ||||||
| chr9:138039153
|
G | A | 1 | a0002c0010t0005g0183 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3287-4621G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039153 | ||||||
| chr9:138039175
|
G | A | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.3287-4599G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039175 | ||||||
| chr9:138039218
|
A | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3287-4556A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039218 | ||||||
| chr9:138039245
|
C | T | 1 | a0015c0049t0002g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.3287-4529C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039245 | ||||||
| chr9:138039405
|
G | T | 2 | a0002c0001t0001g0221a0002c0001t0001g0222 | 2 | HG01256.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.3287-4369G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039405 | ||||||
| chr9:138039482
|
C | T | 9 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(6): Show | 9 | HG01891.hp1 HG02486.hp2 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.3287-4292C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138039482 | ||||||
| chr9:138040411
|
G | T | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.3287-3363G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138040411 | ||||||
| chr9:138040415
|
G | C | 17 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(14): Show | 17 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.3287-3359G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138040415 | ||||||
| chr9:138040481
|
C | CAT | 39 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(36): Show | 39 | HG01109.hp2 HG01243.hp2 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.3287-3279_3287-327 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138040481 | |||||
| chr9:138040482
|
A | T | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3287-3292A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138040482 | ||||||
| chr9:138040483
|
T | C | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3287-3291T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138040483 | ||||||
| chr9:138040524
|
G | A | 6 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(3): Show | 6 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.3287-3250G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138040524 | ||||||
| chr9:138041170
|
A | G | 153 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(150): Show | 153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.3287-2604A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138041170 | ||||||
| chr9:138041289
|
A | C | 1 | a0009c0021t0019g0003 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3287-2485A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138041289 | ||||||
| chr9:138041487
|
ATAGCCTT others(5): Show |
A | 153 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(150): Show | 153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.3287-2274_3287-226 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr9 | 138041487 | |||||
| chr9:138041692
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3287-2082C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138041692 | ||||||
| chr9:138041699
|
C | T | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.3287-2075C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138041699 | ||||||
| chr9:138042197
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3287-1577C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042197 | ||||||
| chr9:138042323
|
G | A | 1 | a0003c0006t0002g0152 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3287-1451G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042323 | ||||||
| chr9:138042550
|
T | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3287-1224T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042550 | ||||||
| chr9:138042563
|
T | G | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3287-1211T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042563 | ||||||
| chr9:138042679
|
G | T | 56 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(53): Show | 56 | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(53): Show |
intron_variant | MODIFIER | c.3287-1095G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042679 | ||||||
| chr9:138042771
|
C | T | 4 | a0001c0002t0001g0035a0001c0002t0001g0058a0001c0002t0001g0061others(1): Show | 4 | HG00544.hp2 HG00673.hp2 NA18955.hp2 others(1): Show |
intron_variant | MODIFIER | c.3287-1003C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042771 | ||||||
| chr9:138042926
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.3287-848G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138042926 | ||||||
| chr9:138043016
|
A | G | 18 | a0001c0002t0013g0012a0001c0002t0013g0128a0002c0004t0001g0014others(15): Show | 18 | HG01099.hp2 HG01433.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.3287-758A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043016 | ||||||
| chr9:138043049
|
T | C | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3287-725T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043049 | ||||||
| chr9:138043105
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3287-669G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043105 | ||||||
| chr9:138043166
|
G | A | 1 | a0002c0001t0002g0178 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3287-608G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043166 | ||||||
| chr9:138043207
|
C | T | 1 | a0002c0004t0001g0187 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3287-567C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043207 | ||||||
| chr9:138043403
|
G | C | 1 | a0002c0001t0005g0231 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3287-371G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043403 | ||||||
| chr9:138043469
|
G | T | 1 | a0001c0050t0040g0129 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3287-305G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043469 | ||||||
| chr9:138043609
|
G | A | 5 | a0002c0011t0002g0172a0002c0011t0002g0191a0002c0011t0002g0192others(2): Show | 5 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.3287-165G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043609 | ||||||
| chr9:138043623
|
C | T | 73 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(70): Show | 73 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(70): Show |
intron_variant | MODIFIER | c.3287-151C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043623 | ||||||
| chr9:138043731
|
A | G | 147 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(144): Show | 147 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.3287-43A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 20/46 | chr9 | 138043731 | ||||||
| chr9:138043986
|
G | GA | 67 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(64): Show | 67 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.3413+87dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr9 | 138043986 | |||||
| chr9:138044191
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3413+291C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044191 | ||||||
| chr9:138044228
|
C | T | 2 | a0002c0001t0002g0226a0002c0001t0038g0164 | 2 | HG01255.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.3413+328C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044228 | ||||||
| chr9:138044444
|
G | A | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.3413+544G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044444 | ||||||
| chr9:138044505
|
T | A | 64 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(61): Show | 64 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(61): Show |
intron_variant | MODIFIER | c.3413+605T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044505 | ||||||
| chr9:138044505
|
T | C | 8 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(5): Show | 8 | HG01109.hp2 HG01884.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.3413+605T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044505 | ||||||
| chr9:138044978
|
C | T | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3413+1078C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138044978 | ||||||
| chr9:138045344
|
A | G | 156 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(153): Show | 156 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.3413+1444A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045344 | ||||||
| chr9:138045447
|
G | C | 63 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(60): Show | 63 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.3414-1457G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045447 | ||||||
| chr9:138045567
|
C | T | 6 | a0007c0016t0007g0054a0007c0016t0007g0062a0007c0016t0007g0205others(3): Show | 6 | HG01891.hp2 HG02622.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3414-1337C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045567 | ||||||
| chr9:138045640
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3414-1264C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045640 | ||||||
| chr9:138045676
|
C | G | 94 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(91): Show | 94 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(91): Show |
intron_variant | MODIFIER | c.3414-1228C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045676 | ||||||
| chr9:138045682
|
C | T | 1 | a0003c0006t0008g0145 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3414-1222C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045682 | ||||||
| chr9:138045777
|
T | C | 1 | a0002c0001t0041g0177 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3414-1127T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045777 | ||||||
| chr9:138045960
|
G | T | 4 | a0002c0001t0002g0167a0003c0006t0002g0151a0003c0006t0002g0152others(1): Show | 4 | HG00323.hp1 HG00642.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.3414-944G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138045960 | ||||||
| chr9:138046018
|
G | A | 1 | a0011c0037t0014g0048 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3414-886G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046018 | ||||||
| chr9:138046138
|
C | T | 1 | a0002c0010t0012g0220 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3414-766C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046138 | ||||||
| chr9:138046150
|
G | C | 1 | a0004c0023t0042g0076 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3414-754G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046150 | ||||||
| chr9:138046245
|
T | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3414-659T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046245 | ||||||
| chr9:138046461
|
CT | C | 65 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(62): Show | 65 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(62): Show |
intron_variant | MODIFIER | c.3414-442delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046461 | ||||||
| chr9:138046627
|
A | G | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.3414-277A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046627 | ||||||
| chr9:138046873
|
G | A | 2 | a0002c0004t0001g0175a0002c0008t0001g0174 | 2 | HG01433.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.3414-31G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 21/46 | chr9 | 138046873 | ||||||
| chr9:138047133
|
G | A | 2 | a0002c0001t0002g0196a0002c0001t0041g0177 | 2 | HG02647.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3543+100G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 22/46 | chr9 | 138047133 | ||||||
| chr9:138047133
|
G | C | 5 | a0005c0038t0023g0020a0005c0039t0032g0079a0009c0021t0010g0004others(2): Show | 5 | HG02486.hp1 HG02647.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3543+100G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 22/46 | chr9 | 138047133 | ||||||
| chr9:138047338
|
G | A | 1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3544-61G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 22/46 | chr9 | 138047338 | ||||||
| chr9:138047354
|
A | T | 2 | a0001c0002t0001g0035a0001c0002t0001g0058 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.3544-45A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 22/46 | chr9 | 138047354 | ||||||
| chr9:138047573
|
G | A | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3603+115G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047573 | ||||||
| chr9:138047605
|
A | G | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(74): Show |
intron_variant | MODIFIER | c.3603+147A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047605 | ||||||
| chr9:138047655
|
T | A | 57 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(54): Show | 57 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.3603+197T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047655 | ||||||
| chr9:138047661
|
C | T | 68 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(65): Show | 68 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(65): Show |
intron_variant | MODIFIER | c.3603+203C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047661 | ||||||
| chr9:138047673
|
T | C | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3603+215T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047673 | ||||||
| chr9:138047680
|
T | A | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3603+222T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047680 | ||||||
| chr9:138047992
|
C | T | 2 | a0002c0001t0001g0166a0002c0001t0001g0209 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.3603+534C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138047992 | ||||||
| chr9:138048116
|
A | G | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.3603+658A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048116 | ||||||
| chr9:138048133
|
G | A | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3603+675G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048133 | ||||||
| chr9:138048335
|
G | A | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3604-874G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048335 | ||||||
| chr9:138048363
|
A | G | 64 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(61): Show | 64 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(61): Show |
intron_variant | MODIFIER | c.3604-846A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048363 | ||||||
| chr9:138048657
|
A | G | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3604-552A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048657 | ||||||
| chr9:138048917
|
C | A | 36 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(33): Show | 36 | HG01261.hp2 HG02109.hp1 HG02145.hp2 others(33): Show |
intron_variant | MODIFIER | c.3604-292C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138048917 | ||||||
| chr9:138049180
|
C | T | 1 | a0001c0048t0006g0101 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3604-29C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138049180 | ||||||
| chr9:138049190
|
G | T | 3 | a0002c0001t0001g0173a0002c0001t0001g0180a0002c0033t0001g0161 | 3 | HG01099.hp1 HG04184.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.3604-19G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 23/46 | chr9 | 138049190 | ||||||
| chr9:138049328
|
C | T | 1 | a0003c0006t0002g0153 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3710+13C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138049328 | ||||||
| chr9:138049472
|
G | A | 1 | a0001c0017t0006g0122 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3710+157G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138049472 | ||||||
| chr9:138049614
|
G | A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3710+299G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138049614 | ||||||
| chr9:138049671
|
A | C | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.3710+356A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138049671 | ||||||
| chr9:138049936
|
G | A | 4 | a0001c0051t0007g0108a0007c0016t0007g0054a0007c0016t0007g0062others(1): Show | 4 | HG01243.hp2 HG01891.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.3710+621G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138049936 | ||||||
| chr9:138050025
|
T | A | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3710+710T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050025 | ||||||
| chr9:138050105
|
C | T | 1 | a0002c0008t0003g0197 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.3710+790C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050105 | ||||||
| chr9:138050176
|
C | G | 1 | a0004c0025t0022g0010 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3710+861C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050176 | ||||||
| chr9:138050230
|
G | A | 4 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005others(1): Show | 4 | HG02257.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.3710+915G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050230 | ||||||
| chr9:138050484
|
G | C | 96 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(93): Show | 96 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.3710+1169G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050484 | ||||||
| chr9:138050511
|
G | A | 2 | a0001c0002t0001g0035a0001c0002t0001g0058 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.3710+1196G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138050511 | ||||||
| chr9:138051070
|
G | A | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3711-1022G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138051070 | ||||||
| chr9:138051447
|
A | G | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3711-645A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138051447 | ||||||
| chr9:138051449
|
G | C | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3711-643G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138051449 | ||||||
| chr9:138051452
|
TCTCC | T | 7 | a0004c0023t0042g0076a0004c0042t0008g0121a0004c0043t0009g0078others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.3711-619_3711-616d others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | INFO_REALIGN_3_PRIME | chr9 | 138051452 | |||||
| chr9:138051452
|
TCTCCCTC others(5): Show |
T | 1 | a0002c0001t0003g0023 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3711-627_3711-616d others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | INFO_REALIGN_3_PRIME | chr9 | 138051452 | |||||
| chr9:138051605
|
C | T | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.3711-487C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138051605 | ||||||
| chr9:138051976
|
C | A | 1 | a0004c0055t0022g0009 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3711-116C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 24/46 | chr9 | 138051976 | ||||||
| chr9:138052249
|
C | CGTGTGGG others(7): Show |
4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.3807+66_3807+67ins others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052249
|
C | CGTGTGT | 6 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.3807+70_3807+75dup others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052249
|
C | CGTGTGTG others(3): Show |
4 | a0001c0053t0028g0105a0009c0021t0010g0004a0009c0021t0019g0003others(1): Show | 4 | HG02486.hp1 HG02647.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.3807+68_3807+69ins others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052249
|
C | CGTGTGTG others(7): Show |
129 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(126): Show | 129 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.3807+68_3807+69ins others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052249
|
C | CGTGTGTG others(9): Show |
8 | a0001c0005t0004g0089a0001c0051t0007g0108a0004c0023t0042g0076others(5): Show | 8 | HG00597.hp1 HG01243.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.3807+68_3807+69ins others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052249
|
C | CGTGTGTG others(11): Show |
4 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.3807+68_3807+69ins others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138052249 | |||||
| chr9:138052268
|
A | T | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3807+80A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052268 | ||||||
| chr9:138052340
|
C | A | 1 | a0001c0015t0009g0081 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.3807+152C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052340 | ||||||
| chr9:138052532
|
G | C | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3807+344G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052532 | ||||||
| chr9:138052805
|
G | A | 5 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0208others(2): Show | 5 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(2): Show |
intron_variant | MODIFIER | c.3807+617G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052805 | ||||||
| chr9:138052887
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3807+699C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052887 | ||||||
| chr9:138052907
|
G | A | 20 | a0001c0005t0004g0007a0001c0005t0004g0028a0001c0005t0004g0082others(17): Show | 20 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.3807+719G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052907 | ||||||
| chr9:138052929
|
C | G | 2 | a0001c0003t0007g0106a0001c0003t0044g0011 | 2 | HG02717.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3807+741C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138052929 | ||||||
| chr9:138053033
|
A | G | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3808-813A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053033 | ||||||
| chr9:138053540
|
C | T | 3 | a0002c0001t0001g0165a0002c0001t0001g0214a0003c0006t0001g0150 | 3 | HG00280.hp1 HG00323.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.3808-306C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053540 | ||||||
| chr9:138053582
|
CTCCCCTC others(51): Show |
C | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3808-244_3808-187d others(60): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | 138053582 | |||||
| chr9:138053645
|
C | T | 1 | a0003c0006t0001g0147 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3808-201C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053645 | ||||||
| chr9:138053657
|
C | A | 15 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0107others(12): Show | 15 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.3808-189C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053657 | ||||||
| chr9:138053712
|
C | A | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3808-134C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053712 | ||||||
| chr9:138053745
|
G | A | 8 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0173others(5): Show | 8 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.3808-101G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | chr9 | 138053745 | ||||||
| chr9:138054102
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3968+96G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054102 | ||||||
| chr9:138054120
|
G | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3968+114G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054120 | ||||||
| chr9:138054227
|
C | T | 1 | a0002c0008t0003g0219 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.3968+221C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054227 | ||||||
| chr9:138054327
|
G | A | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3968+321G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054327 | ||||||
| chr9:138054427
|
C | T | 3 | a0002c0001t0001g0163a0002c0004t0001g0014a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03017.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.3968+421C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054427 | ||||||
| chr9:138054648
|
C | T | 1 | a0001c0003t0006g0136 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3968+642C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054648 | ||||||
| chr9:138054652
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.3968+646C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054652 | ||||||
| chr9:138054721
|
C | T | 1 | a0002c0020t0002g0200 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3968+715C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138054721 | ||||||
| chr9:138055276
|
C | T | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3968+1270C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138055276 | ||||||
| chr9:138055454
|
C | A | 34 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(31): Show | 34 | HG01261.hp2 HG02109.hp1 HG02145.hp2 others(31): Show |
intron_variant | MODIFIER | c.3968+1448C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138055454 | ||||||
| chr9:138055591
|
T | C | 16 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0107others(13): Show | 16 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.3968+1585T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138055591 | ||||||
| chr9:138055889
|
G | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3969-1843G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138055889 | ||||||
| chr9:138056013
|
A | G | 63 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(60): Show | 63 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.3969-1719A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056013 | ||||||
| chr9:138056025
|
C | CA | 65 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(62): Show | 65 | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.3969-1697dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | 138056025 | |||||
| chr9:138056104
|
A | G | 1 | a0002c0001t0002g0178 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3969-1628A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056104 | ||||||
| chr9:138056108
|
A | G | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.3969-1624A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056108 | ||||||
| chr9:138056130
|
G | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3969-1602G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056130 | ||||||
| chr9:138056283
|
A | G | 3 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0055t0022g0009 | 3 | HG01884.hp1 HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3969-1449A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056283 | ||||||
| chr9:138056542
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3969-1190C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056542 | ||||||
| chr9:138056579
|
T | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.3969-1153T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056579 | ||||||
| chr9:138056635
|
G | A | 1 | a0001c0002t0001g0064 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.3969-1097G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056635 | ||||||
| chr9:138056696
|
T | C | 76 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(73): Show | 76 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(73): Show |
intron_variant | MODIFIER | c.3969-1036T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056696 | ||||||
| chr9:138056933
|
G | GT | 12 | a0001c0002t0001g0186a0001c0003t0010g0134a0001c0009t0003g0022others(9): Show | 12 | HG00621.hp2 HG01069.hp2 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.3969-779dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | 138056933 | |||||
| chr9:138056933
|
G | GTT | 69 | a0001c0002t0001g0039a0001c0002t0013g0012a0001c0002t0037g0242others(66): Show | 69 | HG00597.hp1 HG00673.hp1 HG01109.hp2 others(66): Show |
intron_variant | MODIFIER | c.3969-780_3969-779d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | 138056933 | |||||
| chr9:138056933
|
G | GTTT | 67 | a0001c0002t0001g0057a0001c0002t0001g0058a0001c0002t0001g0060others(64): Show | 67 | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.3969-781_3969-779d others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | 138056933 | |||||
| chr9:138056933
|
G | GTTTT | 17 | a0001c0002t0001g0035a0001c0002t0001g0068a0001c0002t0001g0123others(14): Show | 17 | HG00438.hp2 HG00544.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.3969-782_3969-779d others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | INFO_REALIGN_3_PRIME | chr9 | 138056933 | |||||
| chr9:138056958
|
C | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3969-774C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138056958 | ||||||
| chr9:138057015
|
A | C | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.3969-717A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057015 | ||||||
| chr9:138057096
|
C | T | 1 | a0001c0007t0003g0041 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3969-636C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057096 | ||||||
| chr9:138057127
|
C | T | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3969-605C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057127 | ||||||
| chr9:138057135
|
C | T | 14 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.3969-597C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057135 | ||||||
| chr9:138057185
|
C | T | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3969-547C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057185 | ||||||
| chr9:138057275
|
T | A | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.3969-457T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057275 | ||||||
| chr9:138057364
|
C | A | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3969-368C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057364 | ||||||
| chr9:138057387
|
G | A | 1 | a0001c0003t0005g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3969-345G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057387 | ||||||
| chr9:138057568
|
A | G | 6 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.3969-164A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057568 | ||||||
| chr9:138057691
|
T | G | 1 | a0002c0008t0003g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.3969-41T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 26/46 | chr9 | 138057691 | ||||||
| chr9:138057894
|
A | G | 1 | a0001c0002t0008g0026 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.4106+25A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 27/46 | chr9 | 138057894 | ||||||
| chr9:138058260
|
C | T | 3 | a0001c0002t0001g0072a0001c0013t0008g0066a0001c0032t0001g0071 | 3 | HG02015.hp2 NA19000.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.4308+10C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/46 | chr9 | 138058260 | ||||||
| chr9:138058464
|
T | C | 72 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(69): Show | 72 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(69): Show |
intron_variant | MODIFIER | c.4309-105T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/46 | chr9 | 138058464 | ||||||
| chr9:138058516
|
C | T | 15 | a0001c0005t0004g0007a0001c0005t0004g0082a0001c0005t0004g0083others(12): Show | 15 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(12): Show |
intron_variant | MODIFIER | c.4309-53C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/46 | chr9 | 138058516 | ||||||
| chr9:138058519
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4309-50C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 28/46 | chr9 | 138058519 | ||||||
| chr9:138058776
|
G | T | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.4473+43G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 29/46 | chr9 | 138058776 | ||||||
| chr9:138058845
|
G | A | 145 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(142): Show | 145 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.4473+112G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 29/46 | chr9 | 138058845 | ||||||
| chr9:138058867
|
A | G | 2 | a0008c0019t0017g0125a0008c0019t0025g0126 | 2 | NA19056.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.4473+134A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 29/46 | chr9 | 138058867 | ||||||
| chr9:138059308
|
A | G | 1 | a0003c0006t0002g0141 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4584+119A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 30/46 | chr9 | 138059308 | ||||||
| chr9:138059417
|
T | G | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4584+228T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 30/46 | chr9 | 138059417 | ||||||
| chr9:138059567
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4585-87C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 30/46 | chr9 | 138059567 | ||||||
| chr9:138059595
|
C | A | 2 | a0002c0001t0001g0163a0022c0028t0021g0156 | 2 | HG02615.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.4585-59C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 30/46 | chr9 | 138059595 | ||||||
| chr9:138059606
|
C | A | 1 | a0003c0006t0002g0153 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.4585-48C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 30/46 | chr9 | 138059606 | ||||||
| chr9:138059856
|
T | A | 2 | a0001c0003t0043g0127a0021c0027t0024g0149 | 2 | HG02970.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4668+119T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138059856 | ||||||
| chr9:138060129
|
A | C | 1 | a0002c0057t0003g0246 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.4668+392A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060129 | ||||||
| chr9:138060135
|
C | G | 18 | a0001c0003t0005g0016a0001c0003t0005g0021a0001c0003t0005g0107others(15): Show | 18 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.4668+398C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060135 | ||||||
| chr9:138060453
|
G | A | 2 | a0001c0051t0007g0108a0007c0016t0007g0062 | 2 | HG01243.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.4668+716G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060453 | ||||||
| chr9:138060590
|
T | G | 11 | a0001c0002t0001g0039a0001c0002t0002g0046a0001c0007t0003g0027others(8): Show | 11 | HG00280.hp2 HG00621.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.4668+853T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060590 | ||||||
| chr9:138060663
|
A | C | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.4668+926A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060663 | ||||||
| chr9:138060824
|
G | A | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4668+1087G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060824 | ||||||
| chr9:138060866
|
G | A | 1 | a0001c0003t0034g0109 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4668+1129G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060866 | ||||||
| chr9:138060900
|
T | C | 144 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(141): Show | 144 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.4668+1163T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138060900 | ||||||
| chr9:138061071
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4668+1334G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061071 | ||||||
| chr9:138061095
|
G | A | 145 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(142): Show | 145 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.4668+1358G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061095 | ||||||
| chr9:138061209
|
C | T | 9 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0173others(6): Show | 9 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.4668+1472C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061209 | ||||||
| chr9:138061229
|
C | A | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.4668+1492C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061229 | ||||||
| chr9:138061479
|
A | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4668+1742A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061479 | ||||||
| chr9:138061886
|
T | C | 57 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(54): Show | 57 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.4668+2149T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061886 | ||||||
| chr9:138061887
|
C | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4668+2150C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061887 | ||||||
| chr9:138061919
|
G | C | 4 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005others(1): Show | 4 | HG02257.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.4668+2182G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061919 | ||||||
| chr9:138061934
|
G | A | 4 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(1): Show | 4 | HG02683.hp1 HG03688.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.4668+2197G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138061934 | ||||||
| chr9:138062157
|
G | T | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4668+2420G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138062157 | ||||||
| chr9:138062627
|
A | G | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4668+2890A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138062627 | ||||||
| chr9:138062706
|
C | G | 2 | a0002c0010t0012g0215a0002c0010t0012g0233 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.4668+2969C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138062706 | ||||||
| chr9:138062925
|
C | T | 4 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0029t0036g0206others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4668+3188C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138062925 | ||||||
| chr9:138063105
|
A | G | 74 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(71): Show | 74 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(71): Show |
intron_variant | MODIFIER | c.4668+3368A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063105 | ||||||
| chr9:138063232
|
C | A | 1 | a0001c0013t0014g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4668+3495C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063232 | ||||||
| chr9:138063370
|
C | T | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4668+3633C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063370 | ||||||
| chr9:138063419
|
A | G | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4668+3682A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063419 | ||||||
| chr9:138063529
|
G | C | 2 | a0002c0004t0001g0175a0002c0008t0001g0174 | 2 | HG01433.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.4668+3792G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063529 | ||||||
| chr9:138063546
|
T | G | 1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4668+3809T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063546 | ||||||
| chr9:138063779
|
C | T | 2 | a0002c0010t0012g0215a0002c0010t0012g0233 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.4668+4042C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063779 | ||||||
| chr9:138063813
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4668+4076G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063813 | ||||||
| chr9:138063821
|
A | G | 1 | a0002c0001t0035g0232 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.4668+4084A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063821 | ||||||
| chr9:138063898
|
C | T | 69 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(66): Show | 69 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(66): Show |
intron_variant | MODIFIER | c.4668+4161C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063898 | ||||||
| chr9:138063943
|
T | C | 1 | a0021c0027t0024g0149 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4668+4206T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138063943 | ||||||
| chr9:138064108
|
G | A | 2 | a0001c0003t0043g0127a0021c0027t0024g0149 | 2 | HG02970.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4668+4371G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064108 | ||||||
| chr9:138064215
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4668+4478C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064215 | ||||||
| chr9:138064237
|
G | A | 1 | a0001c0017t0006g0122 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4668+4500G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064237 | ||||||
| chr9:138064379
|
C | G | 1 | a0001c0018t0009g0029 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4668+4642C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064379 | ||||||
| chr9:138064558
|
C | T | 1 | a0002c0004t0001g0019 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.4668+4821C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064558 | ||||||
| chr9:138064630
|
A | G | 2 | a0003c0006t0002g0138a0003c0006t0002g0139 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.4668+4893A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064630 | ||||||
| chr9:138064655
|
G | T | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4668+4918G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138064655 | ||||||
| chr9:138065101
|
C | T | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4669-4657C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138065101 | ||||||
| chr9:138065389
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.4669-4369C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138065389 | ||||||
| chr9:138065777
|
T | G | 14 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.4669-3981T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138065777 | ||||||
| chr9:138065783
|
C | T | 2 | a0002c0010t0012g0215a0002c0010t0012g0233 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.4669-3975C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138065783 | ||||||
| chr9:138065918
|
C | T | 2 | a0001c0015t0002g0102a0014c0031t0002g0113 | 2 | NA18960.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.4669-3840C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138065918 | ||||||
| chr9:138066115
|
A | C | 77 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(74): Show | 77 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.4669-3643A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066115 | ||||||
| chr9:138066164
|
G | T | 77 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(74): Show | 77 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.4669-3594G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066164 | ||||||
| chr9:138066166
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4669-3592A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066166 | ||||||
| chr9:138066296
|
A | G | 14 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.4669-3462A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066296 | ||||||
| chr9:138066309
|
C | T | 2 | a0001c0003t0043g0127a0021c0027t0024g0149 | 2 | HG02970.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4669-3449C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066309 | ||||||
| chr9:138066320
|
G | C | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.4669-3438G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066320 | ||||||
| chr9:138066439
|
G | T | 77 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(74): Show | 77 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.4669-3319G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066439 | ||||||
| chr9:138066479
|
A | G | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4669-3279A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066479 | ||||||
| chr9:138066720
|
C | A | 1 | a0002c0001t0001g0227 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.4669-3038C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066720 | ||||||
| chr9:138066757
|
A | G | 14 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.4669-3001A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066757 | ||||||
| chr9:138066794
|
G | A | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4669-2964G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138066794 | ||||||
| chr9:138067015
|
C | T | 1 | a0002c0004t0001g0179 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.4669-2743C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067015 | ||||||
| chr9:138067017
|
A | G | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.4669-2741A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067017 | ||||||
| chr9:138067111
|
C | A | 12 | a0001c0003t0006g0112a0001c0003t0006g0136a0001c0003t0007g0106others(9): Show | 12 | HG02257.hp2 HG02717.hp2 HG02886.hp1 others(9): Show |
intron_variant | MODIFIER | c.4669-2647C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067111 | ||||||
| chr9:138067619
|
A | C | 1 | a0002c0001t0002g0196 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4669-2139A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067619 | ||||||
| chr9:138067656
|
G | A | 5 | a0001c0002t0005g0024a0001c0002t0008g0026a0001c0002t0008g0053others(2): Show | 5 | HG02109.hp2 HG02280.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.4669-2102G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067656 | ||||||
| chr9:138067853
|
A | G | 51 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(48): Show | 51 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(48): Show |
intron_variant | MODIFIER | c.4669-1905A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067853 | ||||||
| chr9:138067910
|
CAG | C | 3 | a0004c0025t0013g0217a0004c0025t0022g0010a0004c0055t0022g0009 | 3 | HG01884.hp1 HG02615.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.4669-1845_4669-184 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr9 | 138067910 | |||||
| chr9:138067931
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4669-1827C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138067931 | ||||||
| chr9:138068179
|
A | C | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.4669-1579A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068179 | ||||||
| chr9:138068235
|
G | T | 61 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(58): Show | 61 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(58): Show |
intron_variant | MODIFIER | c.4669-1523G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068235 | ||||||
| chr9:138068271
|
G | A | 59 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(56): Show | 59 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.4669-1487G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068271 | ||||||
| chr9:138068292
|
G | A | 48 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(45): Show | 48 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.4669-1466G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068292 | ||||||
| chr9:138068294
|
G | T | 68 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0005g0006others(65): Show | 68 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(65): Show |
intron_variant | MODIFIER | c.4669-1464G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068294 | ||||||
| chr9:138068362
|
C | T | 6 | a0001c0050t0040g0129a0002c0001t0002g0226a0002c0001t0005g0231others(3): Show | 6 | HG01255.hp1 HG02622.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.4669-1396C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068362 | ||||||
| chr9:138068388
|
C | T | 2 | a0005c0038t0023g0020a0005c0039t0032g0079 | 2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4669-1370C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068388 | ||||||
| chr9:138068489
|
T | G | 11 | a0001c0003t0006g0112a0001c0003t0006g0136a0001c0003t0007g0106others(8): Show | 11 | HG02717.hp2 HG02886.hp1 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.4669-1269T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068489 | ||||||
| chr9:138068522
|
G | A | 1 | a0002c0004t0005g0195 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4669-1236G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068522 | ||||||
| chr9:138068728
|
G | A | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4669-1030G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068728 | ||||||
| chr9:138068777
|
C | T | 1 | a0001c0003t0005g0107 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4669-981C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068777 | ||||||
| chr9:138068849
|
C | G | 1 | a0001c0002t0001g0035 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.4669-909C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068849 | ||||||
| chr9:138068892
|
C | T | 3 | a0001c0002t0001g0069a0001c0002t0001g0212a0001c0002t0001g0218 | 3 | NA18947.hp2 NA18948.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.4669-866C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068892 | ||||||
| chr9:138068966
|
G | A | 46 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(43): Show | 46 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.4669-792G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068966 | ||||||
| chr9:138068967
|
T | C | 2 | a0001c0003t0007g0111a0001c0003t0007g0114 | 2 | HG02145.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.4669-791T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138068967 | ||||||
| chr9:138069237
|
T | C | 1 | a0001c0012t0001g0031 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4669-521T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 31/46 | chr9 | 138069237 | ||||||
| chr9:138069829
|
T | C | 64 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(61): Show | 64 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(61): Show |
intron_variant | MODIFIER | c.4674+66T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138069829 | ||||||
| chr9:138070216
|
G | A | 2 | a0001c0003t0043g0127a0021c0027t0024g0149 | 2 | HG02970.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4674+453G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070216 | ||||||
| chr9:138070273
|
A | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4674+510A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070273 | ||||||
| chr9:138070306
|
G | A | 140 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(137): Show | 140 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.4674+543G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070306 | ||||||
| chr9:138070533
|
C | G | 1 | a0003c0006t0002g0155 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.4674+770C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070533 | ||||||
| chr9:138070658
|
C | G | 1 | a0001c0002t0001g0039 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.4674+895C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070658 | ||||||
| chr9:138070803
|
A | G | 153 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(150): Show | 153 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.4674+1040A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070803 | ||||||
| chr9:138070917
|
C | T | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.4674+1154C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070917 | ||||||
| chr9:138070940
|
C | T | 47 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(44): Show | 47 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(44): Show |
intron_variant | MODIFIER | c.4674+1177C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138070940 | ||||||
| chr9:138071019
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4674+1256C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071019 | ||||||
| chr9:138071020
|
G | T | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4674+1257G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071020 | ||||||
| chr9:138071244
|
G | A | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4674+1481G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071244 | ||||||
| chr9:138071421
|
C | T | 56 | a0001c0003t0005g0006a0001c0003t0005g0016a0001c0003t0005g0021others(53): Show | 56 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.4674+1658C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071421 | ||||||
| chr9:138071486
|
T | C | 1 | a0001c0005t0004g0028 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.4674+1723T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071486 | ||||||
| chr9:138071523
|
C | T | 73 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(70): Show | 73 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.4674+1760C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071523 | ||||||
| chr9:138071549
|
G | A | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4674+1786G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071549 | ||||||
| chr9:138071902
|
C | T | 11 | a0001c0051t0007g0108a0004c0023t0042g0076a0004c0042t0008g0121others(8): Show | 11 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.4675-1586C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071902 | ||||||
| chr9:138071942
|
G | A | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4675-1546G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071942 | ||||||
| chr9:138071978
|
A | G | 1 | a0001c0013t0008g0066 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.4675-1510A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138071978 | ||||||
| chr9:138072037
|
C | T | 1 | a0001c0007t0003g0038 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.4675-1451C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072037 | ||||||
| chr9:138072038
|
G | A | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4675-1450G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072038 | ||||||
| chr9:138072264
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4675-1224G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072264 | ||||||
| chr9:138072270
|
G | C | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4675-1218G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072270 | ||||||
| chr9:138072381
|
C | T | 4 | a0002c0004t0001g0175a0002c0004t0001g0201a0002c0004t0001g0202others(1): Show | 4 | HG01433.hp2 HG02257.hp1 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.4675-1107C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072381 | ||||||
| chr9:138072622
|
C | T | 71 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(68): Show | 71 | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(68): Show |
intron_variant | MODIFIER | c.4675-866C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072622 | ||||||
| chr9:138072763
|
G | T | 3 | a0001c0003t0005g0021a0001c0003t0005g0107a0001c0003t0045g0008 | 3 | HG01261.hp2 HG02717.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.4675-725G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072763 | ||||||
| chr9:138072882
|
G | A | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4675-606G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138072882 | ||||||
| chr9:138073104
|
C | T | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4675-384C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138073104 | ||||||
| chr9:138073205
|
C | T | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4675-283C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 32/46 | chr9 | 138073205 | ||||||
| chr9:138073770
|
C | T | 152 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(149): Show | 152 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.4791+166C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 33/46 | chr9 | 138073770 | ||||||
| chr9:138073923
|
A | G | 5 | a0001c0044t0005g0239a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4792-78A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 33/46 | chr9 | 138073923 | ||||||
| chr9:138074135
|
C | A | 2 | a0001c0005t0004g0028a0001c0005t0004g0184 | 2 | HG00438.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.4857+69C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074135 | ||||||
| chr9:138074244
|
C | CT | 5 | a0001c0005t0004g0084a0002c0008t0015g0169a0006c0014t0006g0140others(2): Show | 5 | HG01891.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.4857+192dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr9 | 138074244 | |||||
| chr9:138074244
|
C | CTT | 10 | a0001c0003t0007g0106a0001c0003t0044g0011a0001c0051t0007g0108others(7): Show | 10 | HG01243.hp2 HG01891.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.4857+191_4857+192d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr9 | 138074244 | |||||
| chr9:138074343
|
C | T | 154 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(151): Show | 154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.4857+277C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074343 | ||||||
| chr9:138074401
|
C | T | 1 | a0002c0001t0002g0190 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.4857+335C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074401 | ||||||
| chr9:138074539
|
C | T | 2 | a0003c0006t0002g0141a0003c0006t0002g0146 | 2 | HG01261.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.4857+473C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074539 | ||||||
| chr9:138074662
|
A | G | 154 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(151): Show | 154 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.4857+596A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074662 | ||||||
| chr9:138074846
|
C | T | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4857+780C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074846 | ||||||
| chr9:138074848
|
C | T | 6 | a0001c0003t0007g0106a0001c0003t0044g0011a0001c0051t0007g0108others(3): Show | 6 | HG01243.hp2 HG01891.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.4857+782C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074848 | ||||||
| chr9:138074875
|
G | A | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4857+809G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074875 | ||||||
| chr9:138074923
|
C | T | 13 | a0001c0003t0007g0106a0001c0003t0044g0011a0001c0051t0007g0108others(10): Show | 13 | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.4857+857C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074923 | ||||||
| chr9:138074939
|
G | T | 59 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(56): Show | 59 | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.4857+873G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074939 | ||||||
| chr9:138074993
|
A | G | 77 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(74): Show | 77 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.4858-826A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138074993 | ||||||
| chr9:138075140
|
G | C | 58 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(55): Show | 58 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(55): Show |
intron_variant | MODIFIER | c.4858-679G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075140 | ||||||
| chr9:138075212
|
A | G | 1 | a0002c0010t0012g0220 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4858-607A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075212 | ||||||
| chr9:138075217
|
A | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4858-602A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075217 | ||||||
| chr9:138075326
|
A | G | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.4858-493A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075326 | ||||||
| chr9:138075401
|
C | A | 151 | a0001c0002t0001g0186a0001c0002t0008g0026a0001c0002t0008g0053others(148): Show | 151 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.4858-418C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075401 | ||||||
| chr9:138075409
|
C | T | 81 | a0001c0002t0001g0186a0001c0003t0007g0106a0001c0003t0044g0011others(78): Show | 81 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(78): Show |
intron_variant | MODIFIER | c.4858-410C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075409 | ||||||
| chr9:138075425
|
A | G | 1 | a0002c0001t0001g0222 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.4858-394A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075425 | ||||||
| chr9:138075441
|
C | T | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4858-378C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075441 | ||||||
| chr9:138075626
|
G | A | 2 | a0001c0002t0013g0012a0001c0002t0013g0128 | 2 | HG02451.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.4858-193G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075626 | ||||||
| chr9:138075628
|
G | A | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4858-191G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075628 | ||||||
| chr9:138075645
|
G | A | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.4858-174G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075645 | ||||||
| chr9:138075717
|
G | A | 1 | a0003c0006t0002g0153 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.4858-102G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075717 | ||||||
| chr9:138075740
|
C | T | 1 | a0002c0001t0001g0221 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4858-79C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075740 | ||||||
| chr9:138075768
|
C | T | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4858-51C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075768 | ||||||
| chr9:138075815
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
splice_region_variant&intron_variant | LOW | c.4858-4G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 34/46 | chr9 | 138075815 | ||||||
| chr9:138075954
|
G | A | 2 | a0001c0002t0001g0063a0001c0002t0001g0064 | 2 | NA18982.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.4949+44G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138075954 | ||||||
| chr9:138076171
|
C | T | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.4949+261C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076171 | ||||||
| chr9:138076182
|
G | A | 1 | a0001c0013t0014g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4949+272G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076182 | ||||||
| chr9:138076270
|
C | T | 1 | a0001c0051t0007g0108 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4949+360C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076270 | ||||||
| chr9:138076272
|
C | T | 5 | a0004c0023t0008g0077a0004c0025t0013g0217a0004c0025t0022g0010others(2): Show | 5 | HG01109.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4949+362C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076272 | ||||||
| chr9:138076284
|
G | A | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4949+374G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076284 | ||||||
| chr9:138076313
|
T | G | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.4949+403T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076313 | ||||||
| chr9:138076353
|
CAG | C | 19 | a0001c0005t0004g0007a0001c0005t0004g0082a0001c0005t0004g0083others(16): Show | 19 | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(16): Show |
intron_variant | MODIFIER | c.4949+444_4949+445d others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076353 | ||||||
| chr9:138076421
|
C | T | 2 | a0001c0015t0009g0080a0001c0015t0009g0081 | 2 | HG03492.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.4949+511C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076421 | ||||||
| chr9:138076536
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4949+626G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076536 | ||||||
| chr9:138076615
|
C | T | 1 | a0001c0012t0002g0050 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.4949+705C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076615 | ||||||
| chr9:138076829
|
C | T | 4 | a0002c0001t0001g0173a0002c0033t0001g0161a0005c0024t0011g0160others(1): Show | 4 | HG01099.hp1 HG02486.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.4949+919C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076829 | ||||||
| chr9:138076863
|
T | C | 186 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(183): Show | 186 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(183): Show |
intron_variant | MODIFIER | c.4949+953T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076863 | ||||||
| chr9:138076975
|
C | T | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4949+1065C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138076975 | ||||||
| chr9:138077019
|
C | T | 5 | a0001c0003t0007g0106a0001c0003t0044g0011a0001c0051t0007g0108others(2): Show | 5 | HG01243.hp2 HG01891.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.4950-1095C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077019 | ||||||
| chr9:138077067
|
T | C | 8 | a0001c0002t0011g0052a0001c0003t0005g0006a0001c0003t0006g0136others(5): Show | 8 | HG01891.hp1 HG02451.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.4950-1047T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077067 | ||||||
| chr9:138077067
|
T | G | 1 | a0001c0002t0013g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4950-1047T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077067 | ||||||
| chr9:138077149
|
G | A | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4950-965G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077149 | ||||||
| chr9:138077206
|
A | G | 2 | a0001c0003t0034g0109a0002c0001t0001g0036 | 2 | HG00639.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.4950-908A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077206 | ||||||
| chr9:138077224
|
C | G | 79 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0058others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.4950-890C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077224 | ||||||
| chr9:138077286
|
C | T | 1 | a0001c0002t0013g0012 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4950-828C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077286 | ||||||
| chr9:138077305
|
G | A | 1 | a0002c0001t0002g0223 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.4950-809G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077305 | ||||||
| chr9:138077442
|
T | A | 10 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(7): Show | 10 | HG00597.hp1 HG00673.hp1 NA18747.hp1 others(7): Show |
intron_variant | MODIFIER | c.4950-672T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077442 | ||||||
| chr9:138077470
|
C | T | 2 | a0001c0003t0006g0136a0006c0026t0006g0144 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.4950-644C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077470 | ||||||
| chr9:138077539
|
T | G | 12 | a0001c0003t0006g0112a0001c0003t0006g0136a0001c0003t0007g0118others(9): Show | 12 | HG02257.hp2 HG02809.hp2 HG02886.hp1 others(9): Show |
intron_variant | MODIFIER | c.4950-575T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077539 | ||||||
| chr9:138077637
|
C | T | 2 | a0004c0023t0042g0076a0021c0027t0024g0149 | 2 | HG02970.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4950-477C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077637 | ||||||
| chr9:138077806
|
G | C | 49 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(46): Show | 49 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(46): Show |
intron_variant | MODIFIER | c.4950-308G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077806 | ||||||
| chr9:138077861
|
G | T | 1 | a0003c0006t0001g0147 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4950-253G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077861 | ||||||
| chr9:138077875
|
G | A | 53 | a0001c0018t0003g0049a0001c0050t0040g0129a0002c0001t0001g0166others(50): Show | 53 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.4950-239G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077875 | ||||||
| chr9:138077891
|
G | A | 3 | a0001c0017t0016g0119a0017c0047t0006g0116a0018c0046t0016g0110 | 3 | HG02970.hp2 HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4950-223G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138077891 | ||||||
| chr9:138078039
|
A | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.4950-75A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 35/46 | chr9 | 138078039 | ||||||
| chr9:138078435
|
G | A | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+177G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078435 | ||||||
| chr9:138078475
|
G | A | 1 | a0001c0015t0009g0081 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.5094+217G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078475 | ||||||
| chr9:138078587
|
G | A | 5 | a0001c0050t0040g0129a0002c0001t0002g0226a0002c0001t0005g0231others(2): Show | 5 | HG01255.hp1 HG02622.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.5094+329G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078587 | ||||||
| chr9:138078615
|
G | A | 2 | a0001c0002t0008g0026a0001c0002t0008g0053 | 2 | HG02109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.5094+357G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078615 | ||||||
| chr9:138078681
|
C | T | 22 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(19): Show | 22 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.5094+423C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078681 | ||||||
| chr9:138078734
|
C | T | 1 | a0001c0002t0011g0052 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5094+476C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078734 | ||||||
| chr9:138078792
|
A | T | 3 | a0001c0017t0016g0119a0017c0047t0006g0116a0018c0046t0016g0110 | 3 | HG02970.hp2 HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5094+534A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138078792 | ||||||
| chr9:138079051
|
A | C | 7 | a0001c0017t0006g0122a0001c0048t0006g0101a0004c0042t0008g0121others(4): Show | 7 | HG01891.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.5094+793A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138079051 | ||||||
| chr9:138079666
|
C | T | 1 | a0001c0017t0002g0193 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.5094+1408C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138079666 | ||||||
| chr9:138079742
|
C | CA | 79 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.5094+1507dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138079742 | |||||
| chr9:138079742
|
CA | C | 34 | a0001c0002t0005g0024a0001c0002t0033g0025a0001c0003t0005g0016others(31): Show | 34 | HG00323.hp1 HG00738.hp2 HG01109.hp2 others(31): Show |
intron_variant | MODIFIER | c.5094+1507delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138079742 | |||||
| chr9:138079874
|
C | CA | 10 | a0001c0002t0008g0065a0001c0002t0011g0052a0002c0001t0002g0181others(7): Show | 10 | HG00639.hp1 HG01109.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.5094+1634dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138079874 | |||||
| chr9:138079874
|
CAA | C | 84 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(81): Show | 84 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(81): Show |
intron_variant | MODIFIER | c.5094+1633_5094+163 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138079874 | |||||
| chr9:138079874
|
CAAA | C | 27 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.5094+1632_5094+163 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138079874 | |||||
| chr9:138080174
|
C | T | 1 | a0001c0012t0002g0050 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.5094+1916C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138080174 | ||||||
| chr9:138080313
|
T | C | 114 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(111): Show | 114 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(111): Show |
intron_variant | MODIFIER | c.5094+2055T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138080313 | ||||||
| chr9:138080921
|
A | G | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5094+2663A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138080921 | ||||||
| chr9:138081054
|
C | T | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.5094+2796C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138081054 | ||||||
| chr9:138081484
|
GGAAAAAA others(2985): Show |
G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+3227_5094+621 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138081484 | ||||||
| chr9:138081786
|
A | G | 3 | a0001c0003t0043g0127a0004c0023t0042g0076a0021c0027t0024g0149 | 3 | HG02970.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5094+3528A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138081786 | ||||||
| chr9:138082031
|
T | G | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.5094+3773T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082031 | ||||||
| chr9:138082081
|
G | A | 4 | a0001c0002t0001g0068a0001c0002t0008g0241a0001c0002t0037g0242others(1): Show | 4 | HG01256.hp1 HG01258.hp1 HG01515.hp2 others(1): Show |
intron_variant | MODIFIER | c.5094+3823G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082081 | ||||||
| chr9:138082405
|
G | A | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5094+4147G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082405 | ||||||
| chr9:138082516
|
G | T | 1 | a0001c0002t0008g0065 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5094+4258G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082516 | ||||||
| chr9:138082541
|
G | A | 1 | a0001c0002t0001g0039 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.5094+4283G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082541 | ||||||
| chr9:138082573
|
C | T | 1 | a0002c0008t0003g0170 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.5094+4315C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138082573 | ||||||
| chr9:138083039
|
G | A | 48 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(45): Show | 48 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(45): Show |
intron_variant | MODIFIER | c.5094+4781G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083039 | ||||||
| chr9:138083106
|
G | A | 47 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(44): Show | 47 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.5094+4848G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083106 | ||||||
| chr9:138083106
|
G | C | 1 | a0001c0002t0001g0068 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5094+4848G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083106 | ||||||
| chr9:138083350
|
T | A | 42 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(39): Show | 42 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.5094+5092T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083350 | ||||||
| chr9:138083430
|
A | G | 1 | a0002c0004t0001g0175 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.5094+5172A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083430 | ||||||
| chr9:138083512
|
G | A | 48 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(45): Show | 48 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(45): Show |
intron_variant | MODIFIER | c.5094+5254G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083512 | ||||||
| chr9:138083788
|
C | T | 1 | a0001c0022t0020g0002 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.5094+5530C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083788 | ||||||
| chr9:138083812
|
G | C | 113 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(110): Show | 113 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(110): Show |
intron_variant | MODIFIER | c.5094+5554G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138083812 | ||||||
| chr9:138084110
|
G | C | 1 | a0001c0002t0001g0058 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.5094+5852G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084110 | ||||||
| chr9:138084124
|
T | C | 50 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(47): Show | 50 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.5094+5866T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084124 | ||||||
| chr9:138084302
|
T | A | 1 | a0016c0030t0003g0097 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.5094+6044T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084302 | ||||||
| chr9:138084477
|
T | C | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6219T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084477 | ||||||
| chr9:138084478
|
A | C | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6220A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084478 | ||||||
| chr9:138084487
|
G | T | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6229G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084487 | ||||||
| chr9:138084490
|
G | T | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6232G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084490 | ||||||
| chr9:138084491
|
A | G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6233A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084491 | ||||||
| chr9:138084492
|
A | T | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6234A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084492 | ||||||
| chr9:138084497
|
GCTAAAGA others(3057): Show |
G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5094+6240_5095-892 others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084497 | ||||||
| chr9:138084509
|
G | A | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5094+6251G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084509 | ||||||
| chr9:138084672
|
C | T | 6 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(3): Show | 6 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.5094+6414C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084672 | ||||||
| chr9:138084688
|
A | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5094+6430A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084688 | ||||||
| chr9:138084808
|
C | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5094+6550C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084808 | ||||||
| chr9:138084937
|
G | A | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5094+6679G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138084937 | ||||||
| chr9:138084955
|
GA | G | 6 | a0001c0002t0001g0068a0001c0018t0018g0033a0005c0039t0032g0079others(3): Show | 6 | HG01515.hp2 HG03139.hp1 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.5094+6711delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138084955 | |||||
| chr9:138085008
|
T | C | 3 | a0002c0008t0003g0197a0002c0008t0003g0198a0002c0008t0003g0199 | 3 | NA18950.hp2 NA18954.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.5094+6750T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085008 | ||||||
| chr9:138085011
|
T | G | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5094+6753T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085011 | ||||||
| chr9:138085046
|
A | C | 50 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(47): Show | 50 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.5094+6788A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085046 | ||||||
| chr9:138085055
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5094+6797G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085055 | ||||||
| chr9:138085117
|
C | T | 44 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(41): Show | 44 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.5094+6859C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085117 | ||||||
| chr9:138085257
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5094+6999G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085257 | ||||||
| chr9:138085373
|
G | C | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5094+7115G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085373 | ||||||
| chr9:138085667
|
C | T | 1 | a0001c0002t0011g0052 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5094+7409C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085667 | ||||||
| chr9:138085683
|
A | C | 1 | a0002c0001t0001g0180 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.5094+7425A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138085683 | ||||||
| chr9:138086298
|
C | T | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5094+8040C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086298 | ||||||
| chr9:138086322
|
G | T | 3 | a0001c0017t0016g0119a0017c0047t0006g0116a0018c0046t0016g0110 | 3 | HG02970.hp2 HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5094+8064G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086322 | ||||||
| chr9:138086452
|
G | A | 2 | a0001c0003t0007g0106a0007c0016t0007g0062 | 2 | HG03453.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.5094+8194G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086452 | ||||||
| chr9:138086518
|
A | G | 1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5094+8260A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086518 | ||||||
| chr9:138086544
|
A | G | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5094+8286A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086544 | ||||||
| chr9:138086545
|
A | C | 54 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(51): Show | 54 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.5094+8287A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086545 | ||||||
| chr9:138086714
|
G | A | 4 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.5094+8456G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138086714 | ||||||
| chr9:138086966
|
T | TTTTTCTT others(309): Show |
1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5094+8714_5094+871 others(320): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138086966 | |||||
| chr9:138086966
|
T | TTTTTCTT others(309): Show |
1 | a0001c0017t0016g0119 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5094+8714_5094+871 others(320): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138086966 | |||||
| chr9:138087073
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5094+8815G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087073 | ||||||
| chr9:138087157
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5094+8899G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087157 | ||||||
| chr9:138087217
|
C | T | 44 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(41): Show | 44 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.5094+8959C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087217 | ||||||
| chr9:138087384
|
C | CA | 72 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0058others(69): Show | 72 | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.5095-9081dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087384 | |||||
| chr9:138087384
|
CA | C | 32 | a0001c0002t0005g0024a0001c0002t0033g0025a0001c0003t0005g0016others(29): Show | 32 | HG01109.hp2 HG01261.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.5095-9081delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087384 | |||||
| chr9:138087399
|
A | G | 3 | a0001c0017t0006g0122a0001c0048t0006g0101a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5095-9085A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087399 | ||||||
| chr9:138087455
|
G | A | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5095-9029G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087455 | ||||||
| chr9:138087544
|
G | A | 10 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0008g0065others(7): Show | 10 | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.5095-8940G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087544 | ||||||
| chr9:138087562
|
A | G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-8922A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087562 | ||||||
| chr9:138087565
|
A | G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-8919A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087565 | ||||||
| chr9:138087567
|
T | C | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-8917T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087567 | ||||||
| chr9:138087569
|
GCC | G | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-8914_5095-891 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087569 | ||||||
| chr9:138087572
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-8912G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087572 | ||||||
| chr9:138087573
|
T | C | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-8911T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087573 | ||||||
| chr9:138087585
|
C | T | 1 | a0001c0002t0013g0128 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5095-8899C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087585 | ||||||
| chr9:138087615
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5095-8869G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087615 | ||||||
| chr9:138087713
|
C | CA | 10 | a0002c0001t0001g0173a0002c0001t0002g0181a0002c0001t0003g0023others(7): Show | 10 | HG01433.hp1 HG01433.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.5095-8745dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
C | CAAAAA | 23 | a0001c0002t0002g0046a0001c0007t0003g0038a0001c0007t0003g0041others(20): Show | 23 | HG00280.hp2 HG00597.hp2 HG02056.hp2 others(20): Show |
intron_variant | MODIFIER | c.5095-8749_5095-874 others(9): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
C | CAAAAAA | 5 | a0001c0007t0003g0027a0001c0007t0003g0037a0002c0008t0003g0197others(2): Show | 5 | HG00621.hp1 HG02074.hp1 NA18954.hp1 others(2): Show |
intron_variant | MODIFIER | c.5095-8750_5095-874 others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
CA | C | 43 | a0001c0002t0004g0073a0001c0002t0008g0026a0001c0002t0008g0065others(40): Show | 43 | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.5095-8745delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
CAA | C | 44 | a0001c0002t0004g0070a0001c0002t0005g0024a0001c0002t0008g0053others(41): Show | 44 | HG01109.hp2 HG01261.hp2 HG01884.hp1 others(41): Show |
intron_variant | MODIFIER | c.5095-8746_5095-874 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
CAAA | C | 42 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(39): Show | 42 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.5095-8747_5095-874 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087713
|
CAAAAAAA others(8): Show |
C | 2 | a0001c0002t0001g0186a0002c0004t0001g0187 | 2 | HG02056.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.5095-8759_5095-874 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138087713 | |||||
| chr9:138087931
|
A | G | 2 | a0001c0002t0008g0065a0001c0002t0011g0052 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5095-8553A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087931 | ||||||
| chr9:138087950
|
A | G | 2 | a0002c0001t0002g0226a0002c0001t0038g0164 | 2 | HG01255.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.5095-8534A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138087950 | ||||||
| chr9:138088058
|
A | G | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5095-8426A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088058 | ||||||
| chr9:138088469
|
A | G | 1 | a0002c0035t0002g0185 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5095-8015A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088469 | ||||||
| chr9:138088585
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5095-7899C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088585 | ||||||
| chr9:138088680
|
C | A | 2 | a0001c0003t0034g0109a0022c0028t0021g0156 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.5095-7804C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088680 | ||||||
| chr9:138088693
|
G | A | 65 | a0001c0003t0005g0006a0001c0013t0014g0158a0001c0018t0003g0049others(62): Show | 65 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(62): Show |
intron_variant | MODIFIER | c.5095-7791G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088693 | ||||||
| chr9:138088707
|
C | T | 5 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0017t0016g0119others(2): Show | 5 | HG02109.hp2 HG02976.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.5095-7777C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088707 | ||||||
| chr9:138088708
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5095-7776G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088708 | ||||||
| chr9:138088732
|
A | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-7752A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088732 | ||||||
| chr9:138088797
|
C | CA | 9 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(6): Show | 9 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(6): Show |
intron_variant | MODIFIER | c.5095-7675dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088797 | |||||
| chr9:138088831
|
C | T | 24 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.5095-7653C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088831 | ||||||
| chr9:138088832
|
G | A | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.5095-7652G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088832 | ||||||
| chr9:138088884
|
G | A | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5095-7600G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088884 | ||||||
| chr9:138088936
|
A | G | 55 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(52): Show | 55 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.5095-7548A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138088936 | ||||||
| chr9:138088959
|
C | CA | 47 | a0001c0002t0002g0046a0001c0007t0003g0027a0001c0007t0003g0037others(44): Show | 47 | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.5095-7490dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
C | CAA | 27 | a0001c0003t0005g0006a0001c0007t0003g0044a0001c0007t0003g0047others(24): Show | 27 | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(24): Show |
intron_variant | MODIFIER | c.5095-7491_5095-749 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
C | CAAA | 8 | a0001c0050t0040g0129a0002c0001t0002g0226a0002c0001t0005g0231others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.5095-7492_5095-749 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAA | C | 7 | a0001c0002t0004g0073a0001c0005t0004g0007a0001c0005t0004g0098others(4): Show | 7 | HG01243.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5095-7494_5095-749 others(9): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAA | C | 29 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0003t0007g0106others(26): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.5095-7495_5095-749 others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA | C | 54 | a0001c0002t0001g0035a0001c0002t0001g0057a0001c0002t0001g0058others(51): Show | 54 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.5095-7496_5095-749 others(11): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(1): Show |
C | 6 | a0001c0002t0001g0039a0001c0002t0001g0061a0001c0002t0001g0212others(3): Show | 6 | HG03225.hp2 HG03579.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-7497_5095-749 others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(8): Show |
C | 2 | a0002c0001t0001g0036a0002c0001t0001g0173 | 2 | HG00639.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.5095-7504_5095-749 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(9): Show |
C | 9 | a0002c0001t0001g0165a0002c0001t0001g0180a0002c0001t0001g0208others(6): Show | 9 | HG00280.hp1 HG00323.hp2 HG01069.hp2 others(6): Show |
intron_variant | MODIFIER | c.5095-7505_5095-749 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(10): Show |
C | 8 | a0001c0002t0021g0075a0002c0001t0002g0190a0002c0011t0002g0172others(5): Show | 8 | HG02145.hp1 HG03492.hp1 NA18947.hp1 others(5): Show |
intron_variant | MODIFIER | c.5095-7506_5095-749 others(21): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(13): Show |
C | 40 | a0001c0002t0005g0024a0001c0002t0008g0065a0001c0002t0011g0052others(37): Show | 40 | HG01109.hp2 HG01261.hp2 HG02109.hp1 others(37): Show |
intron_variant | MODIFIER | c.5095-7509_5095-749 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138088959
|
CAAAAAAA others(14): Show |
C | 1 | a0002c0010t0012g0233 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.5095-7510_5095-749 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138088959 | |||||
| chr9:138089238
|
C | T | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5095-7246C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138089238 | ||||||
| chr9:138089967
|
A | G | 2 | a0001c0009t0003g0092a0001c0009t0003g0094 | 2 | NA18998.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5095-6517A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138089967 | ||||||
| chr9:138090085
|
A | G | 5 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0017t0016g0119others(2): Show | 5 | HG02109.hp2 HG02976.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.5095-6399A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138090085 | ||||||
| chr9:138090332
|
A | C | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5095-6152A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138090332 | ||||||
| chr9:138090532
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-5952A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138090532 | ||||||
| chr9:138090628
|
G | A | 6 | a0001c0003t0007g0106a0001c0051t0007g0108a0002c0004t0007g0176others(3): Show | 6 | HG01243.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-5856G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138090628 | ||||||
| chr9:138090688
|
C | T | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.5095-5796C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138090688 | ||||||
| chr9:138090701
|
C | CA | 36 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0003t0007g0118others(33): Show | 36 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.5095-5750dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAA | 13 | a0001c0005t0004g0028a0001c0053t0028g0105a0002c0001t0002g0157others(10): Show | 13 | HG00438.hp1 HG02698.hp1 HG02886.hp1 others(10): Show |
intron_variant | MODIFIER | c.5095-5751_5095-575 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAAA | 10 | a0001c0003t0006g0136a0001c0003t0043g0127a0001c0013t0009g0203others(7): Show | 10 | HG00438.hp2 HG00609.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.5095-5752_5095-575 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAAAAA | 22 | a0001c0002t0001g0039a0001c0002t0001g0063a0001c0002t0001g0064others(19): Show | 22 | HG01099.hp2 HG01243.hp2 HG01256.hp1 others(19): Show |
intron_variant | MODIFIER | c.5095-5754_5095-575 others(9): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAAAAAA | 22 | a0001c0002t0001g0035a0001c0002t0001g0057a0001c0002t0001g0060others(19): Show | 22 | HG00544.hp2 HG01433.hp2 HG01515.hp2 others(19): Show |
intron_variant | MODIFIER | c.5095-5755_5095-575 others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAAAAAAA others(3): Show |
1 | a0002c0004t0001g0018 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5095-5759_5095-575 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
C | CAAAAAAA others(6): Show |
2 | a0001c0003t0007g0111a0001c0003t0007g0114 | 2 | HG02145.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.5095-5762_5095-575 others(17): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
CA | C | 28 | a0001c0002t0004g0070a0001c0003t0005g0016a0001c0003t0005g0021others(25): Show | 28 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.5095-5750delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
CAA | C | 8 | a0001c0002t0008g0065a0001c0002t0011g0052a0001c0003t0034g0109others(5): Show | 8 | HG00323.hp1 HG00639.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.5095-5751_5095-575 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
CAAAAAAA others(2): Show |
C | 9 | a0002c0001t0001g0165a0002c0001t0001g0208a0002c0001t0001g0214others(6): Show | 9 | HG00280.hp1 HG00323.hp2 HG01069.hp2 others(6): Show |
intron_variant | MODIFIER | c.5095-5758_5095-575 others(13): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
CAAAAAAA others(3): Show |
C | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5095-5759_5095-575 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138090701
|
CAAAAAAA others(6): Show |
C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-5762_5095-575 others(17): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138090701 | |||||
| chr9:138091058
|
A | G | 1 | a0001c0005t0004g0184 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.5095-5426A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091058 | ||||||
| chr9:138091179
|
T | C | 3 | a0001c0003t0043g0127a0004c0023t0042g0076a0021c0027t0024g0149 | 3 | HG02970.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5095-5305T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091179 | ||||||
| chr9:138091351
|
G | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-5133G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091351 | ||||||
| chr9:138091616
|
T | C | 1 | a0002c0004t0005g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5095-4868T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091616 | ||||||
| chr9:138091761
|
A | G | 1 | a0002c0004t0031g0247 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.5095-4723A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091761 | ||||||
| chr9:138091915
|
C | T | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.5095-4569C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091915 | ||||||
| chr9:138091952
|
A | G | 11 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(8): Show | 11 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.5095-4532A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138091952 | ||||||
| chr9:138092029
|
A | T | 104 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(101): Show | 104 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.5095-4455A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092029 | ||||||
| chr9:138092081
|
G | A | 2 | a0001c0003t0007g0111a0001c0003t0007g0114 | 2 | HG02145.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.5095-4403G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092081 | ||||||
| chr9:138092141
|
C | T | 67 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(64): Show | 67 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(64): Show |
intron_variant | MODIFIER | c.5095-4343C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092141 | ||||||
| chr9:138092161
|
T | G | 2 | a0001c0002t0008g0065a0001c0002t0011g0052 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5095-4323T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092161 | ||||||
| chr9:138092202
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5095-4282G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092202 | ||||||
| chr9:138092570
|
A | G | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5095-3914A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092570 | ||||||
| chr9:138092664
|
G | A | 2 | a0002c0001t0002g0042a0002c0001t0020g0030 | 2 | NA19007.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.5095-3820G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092664 | ||||||
| chr9:138092833
|
G | C | 16 | a0001c0003t0006g0112a0001c0003t0006g0136a0001c0003t0007g0118others(13): Show | 16 | HG02683.hp1 HG02809.hp2 HG02886.hp1 others(13): Show |
intron_variant | MODIFIER | c.5095-3651G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092833 | ||||||
| chr9:138092844
|
C | T | 30 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(27): Show | 30 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.5095-3640C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092844 | ||||||
| chr9:138092887
|
T | G | 1 | a0012c0036t0014g0224 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5095-3597T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138092887 | ||||||
| chr9:138093027
|
A | C | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5095-3457A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093027 | ||||||
| chr9:138093084
|
C | T | 20 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0021others(17): Show | 20 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.5095-3400C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093084 | ||||||
| chr9:138093214
|
G | A | 4 | a0001c0003t0005g0021a0001c0003t0005g0107a0001c0003t0045g0008others(1): Show | 4 | HG01261.hp2 HG02717.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.5095-3270G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093214 | ||||||
| chr9:138093333
|
G | A | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.5095-3151G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093333 | ||||||
| chr9:138093366
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5095-3118C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093366 | ||||||
| chr9:138093403
|
C | CA | 16 | a0001c0002t0002g0046a0001c0003t0043g0127a0001c0007t0003g0027others(13): Show | 16 | HG00621.hp1 HG00621.hp2 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.5095-3056dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138093403 | |||||
| chr9:138093403
|
CA | C | 75 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(72): Show | 75 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.5095-3056delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138093403 | |||||
| chr9:138093403
|
CAA | C | 41 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(38): Show | 41 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.5095-3057_5095-305 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138093403 | |||||
| chr9:138093491
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-2993A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093491 | ||||||
| chr9:138093624
|
C | G | 1 | a0001c0012t0001g0031 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5095-2860C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093624 | ||||||
| chr9:138093661
|
A | C | 6 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-2823A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093661 | ||||||
| chr9:138093708
|
C | T | 9 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(6): Show | 9 | HG00597.hp1 HG00673.hp1 NA18747.hp1 others(6): Show |
intron_variant | MODIFIER | c.5095-2776C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093708 | ||||||
| chr9:138093750
|
C | T | 119 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(116): Show | 119 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(116): Show |
intron_variant | MODIFIER | c.5095-2734C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093750 | ||||||
| chr9:138093881
|
A | G | 21 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0021others(18): Show | 21 | HG01109.hp2 HG01261.hp2 HG02109.hp1 others(18): Show |
intron_variant | MODIFIER | c.5095-2603A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093881 | ||||||
| chr9:138093890
|
T | A | 1 | a0004c0042t0008g0121 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5095-2594T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138093890 | ||||||
| chr9:138094142
|
G | A | 2 | a0001c0002t0008g0065a0001c0002t0011g0052 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5095-2342G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138094142 | ||||||
| chr9:138094442
|
T | TA | 30 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(27): Show | 30 | HG00597.hp1 HG00673.hp1 HG01891.hp1 others(27): Show |
intron_variant | MODIFIER | c.5095-2025dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094442 | |||||
| chr9:138094442
|
T | TAAAAAAA others(7): Show |
2 | a0001c0002t0008g0065a0001c0002t0011g0052 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5095-2038_5095-202 others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094442 | |||||
| chr9:138094442
|
T | TAAAAAAA others(13): Show |
3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094442 | |||||
| chr9:138094442
|
TA | T | 5 | a0001c0009t0003g0093a0002c0001t0001g0208a0002c0001t0001g0222others(2): Show | 5 | HG00323.hp1 HG01069.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.5095-2025delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094442 | |||||
| chr9:138094457
|
A | AAAAAAAA others(23): Show |
1 | a0001c0013t0008g0066 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.5095-2025_5095-202 others(34): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(21): Show |
4 | a0001c0002t0001g0072a0001c0032t0001g0071a0001c0053t0028g0105others(1): Show | 4 | HG02015.hp2 HG04199.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(32): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(20): Show |
6 | a0001c0002t0001g0060a0001c0002t0001g0103a0001c0002t0001g0104others(3): Show | 6 | HG01433.hp2 HG02257.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(31): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(19): Show |
14 | a0001c0002t0001g0035a0001c0002t0001g0057a0001c0002t0001g0058others(11): Show | 14 | HG00544.hp2 HG00673.hp2 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(30): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(18): Show |
8 | a0001c0002t0001g0039a0001c0002t0001g0061a0001c0002t0001g0063others(5): Show | 8 | HG01099.hp2 HG03492.hp1 HG04204.hp2 others(5): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(29): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(17): Show |
5 | a0001c0002t0001g0064a0001c0002t0001g0069a0001c0002t0001g0238others(2): Show | 5 | HG01243.hp2 NA18948.hp2 NA18982.hp2 others(2): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(28): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(16): Show |
6 | a0001c0012t0001g0031a0001c0012t0001g0032a0001c0041t0001g0182others(3): Show | 6 | HG00609.hp2 HG01891.hp2 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(27): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(15): Show |
1 | a0001c0012t0001g0051 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.5095-2025_5095-202 others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(13): Show |
1 | a0001c0003t0007g0106 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.5095-2025_5095-202 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(9): Show |
1 | a0007c0016t0007g0062 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5095-2025_5095-202 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAAAAA others(5): Show |
1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.5095-2025_5095-202 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094457
|
A | AAAAGAAG others(3): Show |
2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5095-2025_5095-202 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094457 | |||||
| chr9:138094458
|
AAG | A | 20 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0021others(17): Show | 20 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.5095-2024_5095-202 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | 138094458 | |||||
| chr9:138094482
|
A | G | 3 | a0002c0008t0003g0197a0002c0008t0003g0198a0002c0008t0003g0199 | 3 | NA18950.hp2 NA18954.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.5095-2002A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138094482 | ||||||
| chr9:138094630
|
T | C | 4 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.5095-1854T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138094630 | ||||||
| chr9:138094688
|
T | C | 1 | a0001c0009t0003g0093 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5095-1796T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138094688 | ||||||
| chr9:138094937
|
A | G | 42 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(39): Show | 42 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.5095-1547A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138094937 | ||||||
| chr9:138095136
|
T | G | 2 | a0001c0017t0016g0119a0017c0047t0006g0116 | 2 | HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5095-1348T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095136 | ||||||
| chr9:138095141
|
C | G | 4 | a0001c0005t0004g0028a0001c0005t0004g0184a0001c0015t0002g0102others(1): Show | 4 | HG00438.hp1 NA18960.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.5095-1343C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095141 | ||||||
| chr9:138095141
|
C | T | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5095-1343C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095141 | ||||||
| chr9:138095197
|
A | C | 20 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0021others(17): Show | 20 | HG01261.hp2 HG02109.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.5095-1287A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095197 | ||||||
| chr9:138095434
|
T | C | 3 | a0001c0003t0043g0127a0004c0023t0042g0076a0021c0027t0024g0149 | 3 | HG02970.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5095-1050T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095434 | ||||||
| chr9:138095745
|
G | A | 1 | a0001c0002t0004g0067 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.5095-739G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095745 | ||||||
| chr9:138095829
|
A | C | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5095-655A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095829 | ||||||
| chr9:138095944
|
G | C | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5095-540G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095944 | ||||||
| chr9:138095976
|
T | C | 2 | a0001c0002t0001g0068a0001c0018t0018g0033 | 2 | HG01515.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.5095-508T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138095976 | ||||||
| chr9:138096108
|
T | C | 6 | a0001c0003t0007g0106a0001c0051t0007g0108a0002c0004t0007g0176others(3): Show | 6 | HG01243.hp2 HG01891.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5095-376T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138096108 | ||||||
| chr9:138096307
|
C | T | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5095-177C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | 138096307 | ||||||
| chr9:138096730
|
G | A | 3 | a0001c0017t0006g0122a0001c0048t0006g0101a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5222+119G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138096730 | ||||||
| chr9:138096825
|
C | T | 2 | a0001c0007t0003g0041a0001c0007t0003g0045 | 2 | NA18612.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.5222+214C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138096825 | ||||||
| chr9:138096831
|
G | A | 1 | a0002c0010t0005g0243 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5222+220G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138096831 | ||||||
| chr9:138096907
|
A | G | 64 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.5222+296A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138096907 | ||||||
| chr9:138097022
|
C | T | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5222+411C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097022 | ||||||
| chr9:138097358
|
G | T | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5222+747G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097358 | ||||||
| chr9:138097362
|
C | T | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5222+751C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097362 | ||||||
| chr9:138097471
|
C | A | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.5222+860C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097471 | ||||||
| chr9:138097504
|
A | G | 7 | a0001c0002t0008g0065a0001c0003t0007g0106a0001c0051t0007g0108others(4): Show | 7 | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.5222+893A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097504 | ||||||
| chr9:138097652
|
C | T | 11 | a0002c0001t0001g0036a0002c0001t0001g0165a0002c0001t0001g0173others(8): Show | 11 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(8): Show |
intron_variant | MODIFIER | c.5222+1041C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097652 | ||||||
| chr9:138097653
|
G | A | 1 | a0001c0005t0004g0086 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.5222+1042G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097653 | ||||||
| chr9:138097731
|
T | C | 3 | a0001c0017t0006g0122a0001c0048t0006g0101a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5222+1120T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097731 | ||||||
| chr9:138097829
|
A | G | 4 | a0001c0012t0001g0031a0001c0012t0001g0032a0001c0012t0001g0051others(1): Show | 4 | HG00609.hp2 HG02080.hp2 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.5222+1218A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097829 | ||||||
| chr9:138097896
|
C | T | 1 | a0002c0033t0001g0161 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.5222+1285C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097896 | ||||||
| chr9:138097919
|
C | G | 136 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(133): Show | 136 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.5222+1308C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097919 | ||||||
| chr9:138097963
|
C | T | 1 | a0004c0029t0036g0206 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.5222+1352C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138097963 | ||||||
| chr9:138098106
|
C | T | 1 | a0001c0007t0003g0047 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5222+1495C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098106 | ||||||
| chr9:138098119
|
A | G | 1 | a0002c0008t0003g0219 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.5222+1508A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098119 | ||||||
| chr9:138098121
|
A | T | 51 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0021others(48): Show | 51 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(48): Show |
intron_variant | MODIFIER | c.5222+1510A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098121 | ||||||
| chr9:138098130
|
TTGTC | T | 20 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(17): Show | 20 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.5222+1523_5222+152 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138098130 | |||||
| chr9:138098193
|
T | A | 57 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(54): Show | 57 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.5222+1582T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098193 | ||||||
| chr9:138098291
|
C | G | 3 | a0001c0017t0006g0122a0001c0048t0006g0101a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5222+1680C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098291 | ||||||
| chr9:138098442
|
G | A | 144 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(141): Show | 144 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(141): Show |
intron_variant | MODIFIER | c.5222+1831G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098442 | ||||||
| chr9:138098496
|
G | A | 144 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(141): Show | 144 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(141): Show |
intron_variant | MODIFIER | c.5222+1885G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098496 | ||||||
| chr9:138098519
|
A | C | 4 | a0001c0002t0011g0052a0001c0017t0016g0119a0002c0010t0010g0204others(1): Show | 4 | HG02965.hp1 HG03098.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.5222+1908A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098519 | ||||||
| chr9:138098568
|
G | A | 57 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(54): Show | 57 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.5222+1957G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098568 | ||||||
| chr9:138098590
|
G | A | 2 | a0002c0001t0035g0232a0004c0029t0036g0206 | 2 | HG01109.hp2 HG02015.hp1 |
intron_variant | MODIFIER | c.5222+1979G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138098590 | ||||||
| chr9:138099060
|
T | C | 17 | a0001c0002t0011g0052a0001c0003t0043g0127a0001c0013t0009g0099others(14): Show | 17 | HG02683.hp1 HG02809.hp2 HG02965.hp1 others(14): Show |
intron_variant | MODIFIER | c.5222+2449T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099060 | ||||||
| chr9:138099111
|
GTGTGTGC others(25): Show |
G | 1 | a0020c0052t0006g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5222+2509_5222+254 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138099111 | |||||
| chr9:138099174
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5222+2563G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099174 | ||||||
| chr9:138099259
|
GT | G | 7 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0007g0111others(4): Show | 7 | HG01884.hp1 HG02145.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.5222+2652delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138099259 | |||||
| chr9:138099267
|
C | T | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.5222+2656C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099267 | ||||||
| chr9:138099271
|
T | C | 1 | a0016c0030t0003g0097 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.5222+2660T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099271 | ||||||
| chr9:138099322
|
CAT | C | 15 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(12): Show | 15 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.5222+2714_5222+271 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138099322 | |||||
| chr9:138099475
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5222+2864G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099475 | ||||||
| chr9:138099487
|
G | T | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.5222+2876G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099487 | ||||||
| chr9:138099569
|
C | T | 1 | a0007c0016t0007g0205 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.5222+2958C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099569 | ||||||
| chr9:138099618
|
CGTGCCTG others(10): Show |
C | 4 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(1): Show | 4 | HG02683.hp1 HG03688.hp1 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.5222+3037_5223-304 others(21): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138099618 | |||||
| chr9:138099648
|
T | C | 7 | a0001c0002t0008g0065a0001c0003t0007g0106a0001c0051t0007g0108others(4): Show | 7 | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.5222+3037T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099648 | ||||||
| chr9:138099666
|
G | A | 1 | a0002c0001t0020g0030 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.5223-3045G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099666 | ||||||
| chr9:138099741
|
C | T | 3 | a0001c0003t0006g0112a0001c0003t0006g0136a0006c0026t0006g0144 | 3 | HG02886.hp1 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.5223-2970C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138099741 | ||||||
| chr9:138100348
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5223-2363G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100348 | ||||||
| chr9:138100686
|
G | T | 1 | a0002c0004t0007g0176 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5223-2025G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100686 | ||||||
| chr9:138100881
|
C | T | 8 | a0001c0002t0008g0065a0001c0003t0007g0106a0001c0051t0007g0108others(5): Show | 8 | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.5223-1830C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100881 | ||||||
| chr9:138100890
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5223-1821C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100890 | ||||||
| chr9:138100935
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5223-1776G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100935 | ||||||
| chr9:138100950
|
C | T | 1 | a0002c0004t0001g0179 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.5223-1761C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138100950 | ||||||
| chr9:138101273
|
G | A | 1 | a0001c0003t0010g0134 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.5223-1438G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101273 | ||||||
| chr9:138101386
|
G | T | 1 | a0001c0012t0001g0032 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.5223-1325G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101386 | ||||||
| chr9:138101712
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.5223-999C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101712 | ||||||
| chr9:138101762
|
A | G | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5223-949A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101762 | ||||||
| chr9:138101869
|
C | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5223-842C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101869 | ||||||
| chr9:138101903
|
C | T | 2 | a0004c0042t0008g0121a0004c0054t0008g0013 | 2 | HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5223-808C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138101903 | ||||||
| chr9:138102021
|
C | G | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5223-690C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102021 | ||||||
| chr9:138102130
|
G | T | 2 | a0001c0003t0007g0118a0019c0045t0007g0117 | 2 | HG03041.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5223-581G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102130 | ||||||
| chr9:138102138
|
T | G | 2 | a0002c0004t0026g0207a0002c0008t0018g0237 | 2 | NA18939.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.5223-573T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102138 | ||||||
| chr9:138102294
|
C | T | 215 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(212): Show | 215 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(212): Show |
intron_variant | MODIFIER | c.5223-417C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102294 | ||||||
| chr9:138102570
|
C | T | 9 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0008g0065others(6): Show | 9 | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.5223-141C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102570 | ||||||
| chr9:138102622
|
ACCCCGCT others(5): Show |
A | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5223-74_5223-63del others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | 138102622 | |||||
| chr9:138102694
|
C | T | 10 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(7): Show | 10 | HG02683.hp1 HG02809.hp2 HG02970.hp1 others(7): Show |
intron_variant | MODIFIER | c.5223-17C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | chr9 | 138102694 | ||||||
| chr9:138102865
|
G | A | 1 | a0001c0003t0005g0130 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5319+58G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138102865 | ||||||
| chr9:138102897
|
AG | A | 129 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(126): Show | 129 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(126): Show |
intron_variant | MODIFIER | c.5319+93delG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | INFO_REALIGN_3_PRIME | chr9 | 138102897 | |||||
| chr9:138102906
|
G | A | 1 | a0022c0028t0021g0156 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5319+99G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138102906 | ||||||
| chr9:138102947
|
C | A | 2 | a0001c0002t0011g0052a0002c0010t0010g0204 | 2 | HG02965.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5319+140C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138102947 | ||||||
| chr9:138103095
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5319+288C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103095 | ||||||
| chr9:138103121
|
T | G | 2 | a0001c0015t0009g0080a0001c0015t0009g0081 | 2 | HG03492.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.5319+314T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103121 | ||||||
| chr9:138103130
|
A | G | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5319+323A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103130 | ||||||
| chr9:138103233
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5319+426G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103233 | ||||||
| chr9:138103464
|
G | A | 1 | a0002c0020t0002g0015 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.5319+657G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103464 | ||||||
| chr9:138103872
|
G | A | 1 | a0002c0004t0001g0014 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5319+1065G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103872 | ||||||
| chr9:138103890
|
G | A | 15 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(12): Show | 15 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.5319+1083G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138103890 | ||||||
| chr9:138104015
|
C | T | 3 | a0001c0002t0033g0025a0001c0022t0002g0001a0001c0022t0020g0002 | 3 | HG01884.hp2 NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5319+1208C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104015 | ||||||
| chr9:138104054
|
T | C | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5319+1247T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104054 | ||||||
| chr9:138104204
|
G | C | 1 | a0001c0041t0001g0182 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.5319+1397G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104204 | ||||||
| chr9:138104355
|
C | G | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5320-1344C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104355 | ||||||
| chr9:138104389
|
C | T | 2 | a0001c0002t0001g0186a0002c0004t0001g0187 | 2 | HG02056.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.5320-1310C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104389 | ||||||
| chr9:138104524
|
G | A | 72 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(69): Show | 72 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.5320-1175G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104524 | ||||||
| chr9:138104558
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5320-1141C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104558 | ||||||
| chr9:138104747
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5320-952T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104747 | ||||||
| chr9:138104748
|
G | A | 78 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(75): Show | 78 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.5320-951G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104748 | ||||||
| chr9:138104926
|
G | A | 1 | a0001c0002t0001g0212 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.5320-773G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138104926 | ||||||
| chr9:138105394
|
G | A | 3 | a0002c0001t0001g0165a0002c0001t0001g0214a0003c0006t0001g0150 | 3 | HG00280.hp1 HG00323.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.5320-305G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138105394 | ||||||
| chr9:138105468
|
A | G | 6 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(3): Show | 6 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.5320-231A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 38/46 | chr9 | 138105468 | ||||||
| chr9:138105963
|
C | T | 1 | a0002c0010t0005g0183 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5428+156C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138105963 | ||||||
| chr9:138106417
|
C | T | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5428+610C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106417 | ||||||
| chr9:138106453
|
A | G | 1 | a0004c0043t0009g0078 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5428+646A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106453 | ||||||
| chr9:138106544
|
C | T | 10 | a0001c0002t0008g0065a0001c0003t0007g0106a0001c0051t0007g0108others(7): Show | 10 | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.5428+737C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106544 | ||||||
| chr9:138106661
|
T | C | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5428+854T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106661 | ||||||
| chr9:138106667
|
A | G | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.5428+860A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106667 | ||||||
| chr9:138106695
|
C | T | 62 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(59): Show | 62 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.5428+888C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106695 | ||||||
| chr9:138106706
|
G | T | 1 | a0003c0006t0002g0141 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.5428+899G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106706 | ||||||
| chr9:138106758
|
G | A | 1 | a0001c0005t0004g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.5428+951G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106758 | ||||||
| chr9:138106900
|
C | G | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5428+1093C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138106900 | ||||||
| chr9:138107122
|
A | G | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.5428+1315A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107122 | ||||||
| chr9:138107214
|
C | CTTAT | 3 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143 | 3 | HG01891.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5428+1410_5428+141 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107214 | |||||
| chr9:138107217
|
A | G | 13 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(10): Show | 13 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.5428+1410A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107217 | ||||||
| chr9:138107218
|
T | TTTTA | 61 | a0001c0002t0002g0046a0001c0003t0005g0006a0001c0003t0005g0107others(58): Show | 61 | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.5428+1457_5428+146 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107218 | |||||
| chr9:138107218
|
T | TTTTATTT others(1): Show |
9 | a0001c0003t0005g0021a0001c0007t0003g0041a0001c0015t0002g0102others(6): Show | 9 | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(6): Show |
intron_variant | MODIFIER | c.5428+1453_5428+146 others(12): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107218 | |||||
| chr9:138107218
|
T | TTTTATTT others(5): Show |
1 | a0002c0001t0002g0159 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.5428+1449_5428+146 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107218 | |||||
| chr9:138107218
|
TTTTA | T | 7 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(4): Show | 7 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(4): Show |
intron_variant | MODIFIER | c.5428+1457_5428+146 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107218 | |||||
| chr9:138107221
|
T | A | 3 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013 | 3 | HG02896.hp2 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5428+1414T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107221 | ||||||
| chr9:138107222
|
A | T | 3 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013 | 3 | HG02896.hp2 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5428+1415A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107222 | ||||||
| chr9:138107251
|
TTTATTTA others(8): Show |
T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5428+1446_5428+146 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107251 | |||||
| chr9:138107255
|
TTTATTTA others(4): Show |
T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5428+1450_5428+146 others(15): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107255 | |||||
| chr9:138107263
|
TTTA | T | 19 | a0001c0002t0011g0052a0001c0044t0005g0239a0002c0001t0001g0036others(16): Show | 19 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.5428+1458_5428+146 others(7): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107263 | |||||
| chr9:138107267
|
T | G | 24 | a0001c0002t0011g0052a0001c0044t0005g0239a0002c0001t0001g0036others(21): Show | 24 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(21): Show |
intron_variant | MODIFIER | c.5428+1460T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107267 | ||||||
| chr9:138107267
|
T | TG | 67 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.5428+1460_5428+146 others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107267 | ||||||
| chr9:138107267
|
T | TTTATG | 35 | a0001c0002t0001g0058a0001c0002t0001g0072a0001c0002t0008g0026others(32): Show | 35 | HG00597.hp1 HG00673.hp1 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.5428+1460_5428+146 others(9): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107267 | ||||||
| chr9:138107268
|
A | G | 2 | a0001c0015t0002g0102a0014c0031t0002g0113 | 2 | NA18960.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.5428+1461A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107268 | ||||||
| chr9:138107414
|
T | C | 21 | a0001c0017t0006g0122a0001c0048t0006g0101a0002c0001t0001g0036others(18): Show | 21 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.5428+1607T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107414 | ||||||
| chr9:138107685
|
G | A | 1 | a0001c0018t0018g0033 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.5428+1878G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107685 | ||||||
| chr9:138107685
|
G | GT | 4 | a0004c0043t0009g0078a0006c0014t0006g0140a0006c0014t0006g0142others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.5428+1880dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138107685 | |||||
| chr9:138107842
|
G | A | 1 | a0001c0002t0030g0120 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.5428+2035G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107842 | ||||||
| chr9:138107857
|
C | T | 13 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(10): Show | 13 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.5428+2050C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107857 | ||||||
| chr9:138107858
|
G | A | 13 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(10): Show | 13 | HG02109.hp1 HG02280.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.5428+2051G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107858 | ||||||
| chr9:138107902
|
G | A | 15 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(12): Show | 15 | HG02109.hp1 HG02280.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.5428+2095G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107902 | ||||||
| chr9:138107951
|
C | G | 3 | a0009c0021t0010g0004a0009c0021t0019g0003a0009c0021t0019g0005 | 3 | HG02486.hp1 HG02647.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.5428+2144C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138107951 | ||||||
| chr9:138108020
|
C | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5428+2213C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108020 | ||||||
| chr9:138108028
|
C | CA | 9 | a0001c0003t0043g0127a0001c0017t0002g0193a0001c0044t0005g0239others(6): Show | 9 | HG00621.hp2 HG01255.hp2 HG02683.hp2 others(6): Show |
intron_variant | MODIFIER | c.5428+2237dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108028 | |||||
| chr9:138108028
|
CA | C | 11 | a0001c0002t0001g0063a0001c0002t0030g0120a0001c0015t0002g0102others(8): Show | 11 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(8): Show |
intron_variant | MODIFIER | c.5428+2237delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108028 | |||||
| chr9:138108062
|
TGCCCTG | T | 62 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(59): Show | 62 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.5428+2258_5428+226 others(10): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108062 | |||||
| chr9:138108292
|
G | A | 15 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(12): Show | 15 | HG01109.hp2 HG02109.hp1 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.5428+2485G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108292 | ||||||
| chr9:138108308
|
C | CA | 21 | a0001c0002t0021g0075a0001c0005t0004g0007a0001c0005t0004g0082others(18): Show | 21 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(18): Show |
intron_variant | MODIFIER | c.5428+2523dupA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108308 | |||||
| chr9:138108308
|
C | CAA | 14 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(11): Show | 14 | HG01884.hp1 HG02109.hp2 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.5428+2522_5428+252 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108308 | |||||
| chr9:138108308
|
CA | C | 12 | a0001c0002t0001g0061a0001c0002t0033g0025a0001c0002t0037g0242others(9): Show | 12 | HG00438.hp1 HG00639.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.5428+2523delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108308 | |||||
| chr9:138108607
|
A | G | 14 | a0001c0002t0011g0052a0001c0002t0033g0025a0001c0003t0043g0127others(11): Show | 14 | HG01884.hp2 HG02683.hp1 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.5428+2800A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108607 | ||||||
| chr9:138108652
|
A | AT | 8 | a0001c0002t0001g0104a0001c0002t0008g0026a0001c0002t0011g0052others(5): Show | 8 | HG02965.hp1 HG03209.hp2 HG03516.hp1 others(5): Show |
intron_variant | MODIFIER | c.5428+2859dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108652 | |||||
| chr9:138108652
|
AT | A | 16 | a0001c0002t0001g0063a0001c0002t0005g0024a0001c0003t0005g0016others(13): Show | 16 | HG01109.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.5428+2859delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138108652 | |||||
| chr9:138108726
|
A | G | 6 | a0002c0001t0001g0173a0002c0001t0001g0180a0002c0001t0001g0208others(3): Show | 6 | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.5428+2919A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108726 | ||||||
| chr9:138108750
|
G | A | 3 | a0001c0017t0016g0119a0017c0047t0006g0116a0018c0046t0016g0110 | 3 | HG02970.hp2 HG03098.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.5428+2943G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108750 | ||||||
| chr9:138108928
|
A | G | 3 | a0001c0017t0006g0122a0001c0048t0006g0101a0020c0052t0006g0115 | 3 | HG02257.hp2 HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5428+3121A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108928 | ||||||
| chr9:138108948
|
G | A | 1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5428+3141G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138108948 | ||||||
| chr9:138109082
|
G | A | 148 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(145): Show | 148 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.5428+3275G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109082 | ||||||
| chr9:138109085
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5428+3278T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109085 | ||||||
| chr9:138109141
|
A | G | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5429-3257A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109141 | ||||||
| chr9:138109194
|
C | T | 2 | a0001c0002t0011g0052a0002c0010t0010g0204 | 2 | HG02965.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5429-3204C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109194 | ||||||
| chr9:138109494
|
G | T | 151 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(148): Show | 151 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.5429-2904G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109494 | ||||||
| chr9:138109536
|
C | T | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-2862C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109536 | ||||||
| chr9:138109546
|
C | T | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5429-2852C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109546 | ||||||
| chr9:138109619
|
G | A | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5429-2779G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109619 | ||||||
| chr9:138109681
|
G | C | 6 | a0004c0042t0008g0121a0004c0043t0009g0078a0004c0054t0008g0013others(3): Show | 6 | HG01891.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.5429-2717G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109681 | ||||||
| chr9:138109775
|
A | G | 1 | a0003c0006t0002g0139 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.5429-2623A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109775 | ||||||
| chr9:138109785
|
C | T | 1 | a0001c0005t0004g0086 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.5429-2613C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109785 | ||||||
| chr9:138109986
|
G | A | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5429-2412G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138109986 | ||||||
| chr9:138110008
|
A | C | 2 | a0001c0017t0006g0122a0001c0048t0006g0101 | 2 | HG03471.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5429-2390A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110008 | ||||||
| chr9:138110082
|
C | CATATATA others(3): Show |
1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2315_5429-231 others(14): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110082 | |||||
| chr9:138110086
|
A | C | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(74): Show |
intron_variant | MODIFIER | c.5429-2312A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110086 | ||||||
| chr9:138110090
|
C | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2308C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110090 | ||||||
| chr9:138110093
|
T | A | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2305T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110093 | ||||||
| chr9:138110094
|
T | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2304T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110094 | ||||||
| chr9:138110098
|
A | C | 77 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(74): Show | 77 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(74): Show |
intron_variant | MODIFIER | c.5429-2300A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110098 | ||||||
| chr9:138110098
|
A | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2300A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110098 | ||||||
| chr9:138110101
|
T | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2297T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110101 | ||||||
| chr9:138110102
|
G | GAT | 18 | a0001c0017t0006g0122a0001c0048t0006g0101a0002c0001t0001g0036others(15): Show | 18 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(15): Show |
intron_variant | MODIFIER | c.5429-2282_5429-228 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110102 | |||||
| chr9:138110102
|
G | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2296G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110102 | ||||||
| chr9:138110115
|
A | T | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-2283A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110115 | ||||||
| chr9:138110116
|
T | A | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-2282T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110116 | ||||||
| chr9:138110116
|
T | TATAC | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5429-2281_5429-228 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110116 | |||||
| chr9:138110117
|
A | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2281A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110117 | ||||||
| chr9:138110118
|
C | CAT | 51 | a0001c0002t0001g0039a0001c0002t0001g0057a0001c0002t0001g0058others(48): Show | 51 | HG00609.hp2 HG00673.hp2 HG01099.hp2 others(48): Show |
intron_variant | MODIFIER | c.5429-2267_5429-226 others(6): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110118 | |||||
| chr9:138110118
|
C | CATAT | 18 | a0001c0002t0001g0035a0001c0002t0004g0067a0001c0002t0004g0070others(15): Show | 18 | HG00544.hp2 HG00597.hp1 HG00673.hp1 others(15): Show |
intron_variant | MODIFIER | c.5429-2269_5429-226 others(8): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110118 | |||||
| chr9:138110118
|
C | T | 6 | a0001c0005t0004g0028a0001c0005t0004g0082a0001c0005t0004g0184others(3): Show | 6 | HG00438.hp1 NA19010.hp2 NA19011.hp1 others(3): Show |
intron_variant | MODIFIER | c.5429-2280C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110118 | ||||||
| chr9:138110121
|
A | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2277A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110121 | ||||||
| chr9:138110122
|
T | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2276T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110122 | ||||||
| chr9:138110125
|
A | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2273A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110125 | ||||||
| chr9:138110127
|
A | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2271A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110127 | ||||||
| chr9:138110129
|
A | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2269A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110129 | ||||||
| chr9:138110130
|
T | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2268T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110130 | ||||||
| chr9:138110145
|
T | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2253T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110145 | ||||||
| chr9:138110147
|
C | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2251C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110147 | ||||||
| chr9:138110154
|
G | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2244G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110154 | ||||||
| chr9:138110155
|
C | A | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2243C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110155 | ||||||
| chr9:138110184
|
A | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2214A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110184 | ||||||
| chr9:138110196
|
T | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2202T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110196 | ||||||
| chr9:138110200
|
T | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2198T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110200 | ||||||
| chr9:138110202
|
C | A | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2196C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110202 | ||||||
| chr9:138110208
|
G | A | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2190G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110208 | ||||||
| chr9:138110217
|
C | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2181C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110217 | ||||||
| chr9:138110217
|
C | T | 17 | a0001c0017t0006g0122a0001c0048t0006g0101a0002c0001t0001g0036others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.5429-2181C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110217 | ||||||
| chr9:138110218
|
G | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2180G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110218 | ||||||
| chr9:138110252
|
T | A | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2146T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110252 | ||||||
| chr9:138110262
|
A | C | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2136A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110262 | ||||||
| chr9:138110265
|
T | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2133T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110265 | ||||||
| chr9:138110277
|
A | G | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2121A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110277 | ||||||
| chr9:138110281
|
A | T | 1 | a0001c0005t0004g0082 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.5429-2117A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110281 | ||||||
| chr9:138110493
|
G | A | 148 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(145): Show | 148 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.5429-1905G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110493 | ||||||
| chr9:138110624
|
C | T | 15 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0002t0013g0012others(12): Show | 15 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.5429-1774C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110624 | ||||||
| chr9:138110857
|
A | G | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5429-1541A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110857 | ||||||
| chr9:138110945
|
TG | T | 14 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(11): Show | 14 | HG02109.hp1 HG02280.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.5429-1452delG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110945 | ||||||
| chr9:138110965
|
C | T | 1 | a0001c0002t0001g0123 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.5429-1433C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110965 | ||||||
| chr9:138110978
|
T | A | 1 | a0005c0039t0032g0079 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5429-1420T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110978 | ||||||
| chr9:138110978
|
TA | T | 19 | a0001c0015t0002g0102a0001c0017t0006g0122a0001c0048t0006g0101others(16): Show | 19 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.5429-1407delA | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138110978 | |||||
| chr9:138110994
|
A | C | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-1404A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110994 | ||||||
| chr9:138110995
|
C | A | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-1403C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110995 | ||||||
| chr9:138110996
|
A | C | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-1402A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110996 | ||||||
| chr9:138110998
|
C | T | 2 | a0001c0022t0002g0001a0001c0022t0020g0002 | 2 | NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5429-1400C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138110998 | ||||||
| chr9:138111163
|
A | G | 10 | a0001c0005t0004g0082a0001c0005t0004g0083a0001c0005t0004g0084others(7): Show | 10 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.5429-1235A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111163 | ||||||
| chr9:138111184
|
A | T | 2 | a0001c0007t0001g0034a0002c0004t0001g0168 | 2 | HG02135.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.5429-1214A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111184 | ||||||
| chr9:138111204
|
G | A | 202 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(199): Show | 202 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(199): Show |
intron_variant | MODIFIER | c.5429-1194G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111204 | ||||||
| chr9:138111208
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5429-1190T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111208 | ||||||
| chr9:138111301
|
A | G | 24 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(21): Show | 24 | HG02109.hp1 HG02280.hp2 HG02559.hp1 others(21): Show |
intron_variant | MODIFIER | c.5429-1097A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111301 | ||||||
| chr9:138111320
|
A | G | 84 | a0001c0013t0008g0066a0001c0013t0014g0158a0001c0015t0002g0102others(81): Show | 84 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.5429-1078A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111320 | ||||||
| chr9:138111340
|
G | T | 1 | a0002c0001t0002g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5429-1058G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111340 | ||||||
| chr9:138111354
|
A | G | 9 | a0001c0002t0008g0065a0001c0003t0007g0106a0001c0051t0007g0108others(6): Show | 9 | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.5429-1044A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111354 | ||||||
| chr9:138111368
|
C | T | 28 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(25): Show | 28 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(25): Show |
intron_variant | MODIFIER | c.5429-1030C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111368 | ||||||
| chr9:138111428
|
G | A | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5429-970G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111428 | ||||||
| chr9:138111495
|
C | T | 6 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(3): Show | 6 | HG02683.hp1 HG03492.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5429-903C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111495 | ||||||
| chr9:138111513
|
G | A | 64 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(61): Show | 64 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.5429-885G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111513 | ||||||
| chr9:138111514
|
A | G | 68 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(65): Show | 68 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(65): Show |
intron_variant | MODIFIER | c.5429-884A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111514 | ||||||
| chr9:138111537
|
T | TG | 35 | a0001c0002t0008g0026a0001c0002t0008g0053a0001c0003t0005g0021others(32): Show | 35 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.5429-861_5429-860i others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111537 | ||||||
| chr9:138111549
|
C | T | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5429-849C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111549 | ||||||
| chr9:138111558
|
G | A | 2 | a0002c0011t0002g0191a0002c0011t0002g0194 | 2 | NA18951.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.5429-840G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111558 | ||||||
| chr9:138111562
|
C | G | 67 | a0001c0002t0001g0072a0001c0013t0008g0066a0001c0013t0014g0158others(64): Show | 67 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(64): Show |
intron_variant | MODIFIER | c.5429-836C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111562 | ||||||
| chr9:138111563
|
T | C | 4 | a0001c0022t0002g0001a0001c0022t0020g0002a0001c0044t0005g0239others(1): Show | 4 | HG02809.hp2 HG02886.hp1 NA18939.hp2 others(1): Show |
intron_variant | MODIFIER | c.5429-835T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111563 | ||||||
| chr9:138111578
|
C | T | 9 | a0001c0017t0006g0122a0001c0044t0005g0239a0001c0048t0006g0101others(6): Show | 9 | HG01891.hp1 HG02257.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.5429-820C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111578 | ||||||
| chr9:138111596
|
T | C | 2 | a0001c0002t0008g0026a0001c0002t0008g0053 | 2 | HG02109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.5429-802T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111596 | ||||||
| chr9:138111607
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5429-791T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111607 | ||||||
| chr9:138111661
|
C | T | 2 | a0008c0019t0017g0125a0008c0019t0025g0126 | 2 | NA19056.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.5429-737C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111661 | ||||||
| chr9:138111675
|
C | A | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-723C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111675 | ||||||
| chr9:138111722
|
C | T | 4 | a0002c0001t0001g0163a0002c0001t0001g0221a0002c0001t0001g0222others(1): Show | 4 | HG01256.hp2 HG02615.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.5429-676C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111722 | ||||||
| chr9:138111733
|
A | AC | 9 | a0001c0002t0033g0025a0001c0017t0016g0119a0001c0032t0001g0071others(6): Show | 9 | HG01884.hp2 HG02970.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.5429-661dupC | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138111733 | |||||
| chr9:138111755
|
G | A | 4 | a0001c0017t0016g0119a0017c0047t0006g0116a0018c0046t0016g0110others(1): Show | 4 | HG02970.hp1 HG02970.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.5429-643G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111755 | ||||||
| chr9:138111774
|
G | A | 2 | a0001c0050t0040g0129a0002c0001t0002g0226 | 2 | HG02622.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5429-624G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111774 | ||||||
| chr9:138111808
|
C | T | 1 | a0001c0007t0003g0038 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.5429-590C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111808 | ||||||
| chr9:138111813
|
T | C | 1 | a0002c0004t0005g0195 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5429-585T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111813 | ||||||
| chr9:138111839
|
G | T | 1 | a0018c0046t0016g0110 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.5429-559G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111839 | ||||||
| chr9:138111854
|
G | A | 16 | a0001c0005t0004g0028a0001c0005t0004g0082a0001c0005t0004g0083others(13): Show | 16 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.5429-544G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111854 | ||||||
| chr9:138111932
|
G | A | 6 | a0001c0003t0043g0127a0001c0017t0016g0119a0004c0023t0042g0076others(3): Show | 6 | HG02970.hp1 HG02970.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5429-466G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138111932 | ||||||
| chr9:138111938
|
C | CT | 36 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(33): Show | 36 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.5429-445dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138111938 | |||||
| chr9:138111938
|
CT | C | 64 | a0001c0013t0008g0066a0001c0015t0002g0102a0001c0017t0002g0193others(61): Show | 64 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.5429-445delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138111938 | |||||
| chr9:138112124
|
T | TGCATGCA others(9): Show |
27 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(24): Show | 27 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.5429-262_5429-261i others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138112124 | |||||
| chr9:138112129
|
G | GCACACAC others(6): Show |
1 | a0002c0001t0001g0180 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.5429-259_5429-247d others(15): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | 138112129 | |||||
| chr9:138112191
|
T | C | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5429-207T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138112191 | ||||||
| chr9:138112204
|
G | A | 42 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(39): Show | 42 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.5429-194G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138112204 | ||||||
| chr9:138112215
|
G | A | 31 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(28): Show | 31 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.5429-183G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138112215 | ||||||
| chr9:138112332
|
T | G | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5429-66T>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | 138112332 | ||||||
| chr9:138112593
|
G | T | 1 | a0001c0032t0001g0071 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5536+88G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112593 | ||||||
| chr9:138112827
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5536+322G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112827 | ||||||
| chr9:138112833
|
G | A | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.5536+328G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112833 | ||||||
| chr9:138112907
|
C | CGGGAGAC others(78): Show |
1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5536+461_5536+462i others(87): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138112907 | |||||
| chr9:138112907
|
C | T | 1 | a0001c0002t0033g0025 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5536+402C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112907 | ||||||
| chr9:138112927
|
A | G | 3 | a0001c0002t0008g0065a0001c0022t0002g0001a0001c0022t0020g0002 | 3 | HG02280.hp1 NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5536+422A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112927 | ||||||
| chr9:138112967
|
T | C | 106 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0003t0006g0112others(103): Show | 106 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.5536+462T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138112967 | ||||||
| chr9:138113009
|
C | T | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.5536+504C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113009 | ||||||
| chr9:138113038
|
AGAGACGT others(34): Show |
A | 2 | a0001c0007t0003g0044a0001c0007t0003g0225 | 2 | HG00280.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.5536+575_5536+615d others(43): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113038 | |||||
| chr9:138113078
|
T | TGTG | 12 | a0001c0003t0007g0106a0001c0003t0007g0111a0001c0003t0007g0114others(9): Show | 12 | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.5536+574_5536+575i others(5): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113078 | |||||
| chr9:138113271
|
A | G | 26 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(23): Show | 26 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.5536+766A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113271 | ||||||
| chr9:138113288
|
G | GCACAATG others(125): Show |
1 | a0005c0038t0023g0020 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5536+829_5537-913d others(134): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113288 | |||||
| chr9:138113297
|
G | A | 3 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143 | 3 | HG01891.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5536+792G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113297 | ||||||
| chr9:138113305
|
A | G | 3 | a0001c0002t0008g0065a0001c0022t0002g0001a0001c0022t0020g0002 | 3 | HG02280.hp1 NA18939.hp2 NA18944.hp2 |
intron_variant | MODIFIER | c.5536+800A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113305 | ||||||
| chr9:138113351
|
T | C | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5536+846T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113351 | ||||||
| chr9:138113368
|
G | A | 2 | a0001c0002t0008g0026a0001c0002t0008g0053 | 2 | HG02109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.5536+863G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113368 | ||||||
| chr9:138113398
|
A | G | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5536+893A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113398 | ||||||
| chr9:138113469
|
AGGAGGTG others(125): Show |
A | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.5537-760_5537-629d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113469 | |||||
| chr9:138113510
|
G | A | 46 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(43): Show | 46 | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.5537-868G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113510 | ||||||
| chr9:138113543
|
C | T | 58 | a0001c0013t0008g0066a0001c0013t0014g0158a0001c0015t0002g0102others(55): Show | 58 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.5537-835C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113543 | ||||||
| chr9:138113580
|
CGGGAGAC others(257): Show |
C | 1 | a0003c0006t0002g0154 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.5537-759_5537-496d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113580 | |||||
| chr9:138113581
|
G | A | 2 | a0001c0003t0007g0118a0019c0045t0007g0117 | 2 | HG03041.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5537-797G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113581 | ||||||
| chr9:138113624
|
T | C | 27 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.5537-754T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113624 | ||||||
| chr9:138113647
|
A | AAGGTGCC others(741): Show |
2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.5537-474_5537-473i others(750): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113647 | |||||
| chr9:138113715
|
G | A | 28 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(25): Show | 28 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(25): Show |
intron_variant | MODIFIER | c.5537-663G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113715 | ||||||
| chr9:138113750
|
T | TCCTTGTG others(125): Show |
1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5537-540_5537-409d others(134): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113750 | |||||
| chr9:138113750
|
TCCTTGTG others(125): Show |
T | 27 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.5537-540_5537-409d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113750 | |||||
| chr9:138113842
|
T | C | 2 | a0002c0004t0026g0207a0002c0008t0018g0237 | 2 | NA18939.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.5537-536T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113842 | ||||||
| chr9:138113867
|
GAGGTGCC others(125): Show |
G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5537-496_5537-365d others(2): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113867 | |||||
| chr9:138113896
|
G | A | 4 | a0002c0004t0001g0175a0002c0004t0001g0201a0002c0004t0001g0202others(1): Show | 4 | HG01433.hp2 HG02257.hp1 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.5537-482G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138113896 | ||||||
| chr9:138113955
|
G | GAGGTGCC others(37): Show |
8 | a0001c0017t0002g0193a0002c0001t0002g0190a0002c0001t0003g0023others(5): Show | 8 | HG04199.hp2 NA18947.hp1 NA18951.hp1 others(5): Show |
intron_variant | MODIFIER | c.5537-364_5537-321d others(46): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | 138113955 | |||||
| chr9:138114189
|
C | T | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5537-189C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138114189 | ||||||
| chr9:138114215
|
C | G | 6 | a0001c0003t0005g0016a0001c0003t0044g0011a0002c0010t0005g0243others(3): Show | 6 | HG02280.hp2 HG02717.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.5537-163C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | chr9 | 138114215 | ||||||
| chr9:138114499
|
C | A | 9 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0017t0016g0119others(6): Show | 9 | HG01884.hp1 HG02451.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.5649+9C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138114499 | ||||||
| chr9:138114535
|
G | A | 2 | a0001c0002t0011g0052a0002c0010t0010g0204 | 2 | HG02965.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5649+45G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138114535 | ||||||
| chr9:138114563
|
C | T | 23 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(20): Show | 23 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.5649+73C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138114563 | ||||||
| chr9:138114764
|
T | TGGTTGTT others(4): Show |
1 | a0001c0002t0008g0065 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5649+278_5649+288d others(13): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr9 | 138114764 | |||||
| chr9:138115216
|
T | A | 1 | a0001c0013t0009g0099 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5650-336T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138115216 | ||||||
| chr9:138115223
|
G | T | 20 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(17): Show | 20 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.5650-329G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138115223 | ||||||
| chr9:138115389
|
C | T | 27 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(24): Show | 27 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.5650-163C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 41/46 | chr9 | 138115389 | ||||||
| chr9:138115823
|
C | T | 1 | a0004c0023t0008g0077 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.5777+144C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138115823 | ||||||
| chr9:138115834
|
T | A | 2 | a0002c0004t0005g0133a0002c0004t0005g0195 | 2 | NA19043.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5777+155T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138115834 | ||||||
| chr9:138115837
|
G | A | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5777+158G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138115837 | ||||||
| chr9:138115905
|
G | C | 29 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(26): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.5777+226G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138115905 | ||||||
| chr9:138115908
|
G | A | 1 | a0001c0002t0001g0238 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.5777+229G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138115908 | ||||||
| chr9:138116005
|
C | A | 165 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(162): Show | 165 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(162): Show |
intron_variant | MODIFIER | c.5777+326C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116005 | ||||||
| chr9:138116189
|
A | G | 59 | a0001c0013t0008g0066a0001c0013t0014g0158a0001c0015t0002g0102others(56): Show | 59 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.5777+510A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116189 | ||||||
| chr9:138116242
|
G | A | 1 | a0001c0003t0006g0112 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5777+563G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116242 | ||||||
| chr9:138116451
|
C | T | 1 | a0017c0047t0006g0116 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5777+772C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116451 | ||||||
| chr9:138116452
|
G | A | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5777+773G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116452 | ||||||
| chr9:138116457
|
G | C | 11 | a0001c0013t0009g0099a0001c0013t0009g0203a0001c0013t0027g0240others(8): Show | 11 | HG01891.hp1 HG02683.hp1 HG02895.hp1 others(8): Show |
intron_variant | MODIFIER | c.5777+778G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116457 | ||||||
| chr9:138116468
|
C | G | 1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5777+789C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116468 | ||||||
| chr9:138116536
|
G | C | 2 | a0001c0005t0004g0088a0001c0005t0004g0090 | 2 | HG02040.hp2 HG02074.hp2 |
intron_variant | MODIFIER | c.5777+857G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116536 | ||||||
| chr9:138116588
|
G | T | 1 | a0001c0002t0001g0103 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.5777+909G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116588 | ||||||
| chr9:138116923
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.5778-1023T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138116923 | ||||||
| chr9:138117017
|
A | G | 2 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.5778-929A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117017 | ||||||
| chr9:138117072
|
C | T | 154 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(151): Show | 154 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(151): Show |
intron_variant | MODIFIER | c.5778-874C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117072 | ||||||
| chr9:138117116
|
C | G | 1 | a0001c0002t0013g0128 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5778-830C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117116 | ||||||
| chr9:138117116
|
C | T | 14 | a0001c0002t0013g0012a0002c0001t0002g0157a0002c0001t0002g0181others(11): Show | 14 | HG00621.hp2 HG01884.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.5778-830C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117116 | ||||||
| chr9:138117129
|
C | T | 62 | a0001c0002t0013g0012a0001c0002t0013g0128a0001c0013t0008g0066others(59): Show | 62 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.5778-817C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117129 | ||||||
| chr9:138117220
|
G | C | 1 | a0001c0013t0014g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.5778-726G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117220 | ||||||
| chr9:138117228
|
C | T | 1 | a0001c0002t0008g0065 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5778-718C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117228 | ||||||
| chr9:138117272
|
C | T | 1 | a0001c0044t0005g0239 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.5778-674C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117272 | ||||||
| chr9:138117284
|
T | TG | 19 | a0001c0002t0008g0065a0001c0002t0013g0012a0001c0003t0005g0021others(16): Show | 19 | HG01261.hp2 HG01884.hp1 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.5778-652dupG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr9 | 138117284 | |||||
| chr9:138117287
|
G | GGT | 32 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(29): Show | 32 | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(29): Show |
intron_variant | MODIFIER | c.5778-658_5778-657i others(4): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr9 | 138117287 | |||||
| chr9:138117288
|
G | GT | 160 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(157): Show | 160 | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.5778-658_5778-657i others(3): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117288 | ||||||
| chr9:138117292
|
G | A | 32 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(29): Show | 32 | HG00323.hp1 HG00438.hp1 HG00597.hp1 others(29): Show |
intron_variant | MODIFIER | c.5778-654G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117292 | ||||||
| chr9:138117303
|
G | A | 10 | a0001c0003t0007g0106a0001c0003t0007g0111a0001c0003t0007g0114others(7): Show | 10 | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.5778-643G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117303 | ||||||
| chr9:138117319
|
A | G | 92 | a0001c0002t0001g0060a0001c0002t0001g0068a0001c0002t0001g0186others(89): Show | 92 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.5778-627A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117319 | ||||||
| chr9:138117330
|
C | T | 1 | a0002c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5778-616C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117330 | ||||||
| chr9:138117341
|
A | G | 14 | a0001c0002t0013g0012a0001c0003t0007g0106a0001c0003t0007g0111others(11): Show | 14 | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.5778-605A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117341 | ||||||
| chr9:138117379
|
G | A | 6 | a0001c0003t0006g0112a0001c0003t0006g0136a0001c0048t0006g0101others(3): Show | 6 | HG02486.hp1 HG02886.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.5778-567G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117379 | ||||||
| chr9:138117395
|
T | C | 1 | a0001c0018t0009g0029 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.5778-551T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117395 | ||||||
| chr9:138117403
|
C | T | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.5778-543C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117403 | ||||||
| chr9:138117485
|
G | T | 6 | a0001c0003t0005g0016a0001c0003t0044g0011a0002c0001t0005g0231others(3): Show | 6 | HG02280.hp2 HG02717.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.5778-461G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117485 | ||||||
| chr9:138117512
|
T | C | 1 | a0001c0005t0004g0098 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5778-434T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117512 | ||||||
| chr9:138117592
|
A | G | 26 | a0001c0002t0011g0052a0001c0002t0013g0012a0001c0002t0013g0128others(23): Show | 26 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.5778-354A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117592 | ||||||
| chr9:138117612
|
A | G | 53 | a0001c0013t0008g0066a0001c0013t0014g0158a0001c0015t0002g0102others(50): Show | 53 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.5778-334A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117612 | ||||||
| chr9:138117628
|
A | G | 1 | a0001c0002t0021g0075 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.5778-318A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117628 | ||||||
| chr9:138117760
|
G | A | 1 | a0001c0003t0010g0134 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.5778-186G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117760 | ||||||
| chr9:138117789
|
C | T | 1 | a0001c0003t0007g0118 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5778-157C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 42/46 | chr9 | 138117789 | ||||||
| chr9:138118217
|
TGGGTGGG others(37): Show |
T | 15 | a0001c0002t0011g0052a0001c0002t0013g0012a0001c0002t0013g0128others(12): Show | 15 | HG01884.hp1 HG02451.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.5913+176_5913+219d others(46): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | INFO_REALIGN_3_PRIME | chr9 | 138118217 | |||||
| chr9:138118288
|
G | A | 3 | a0001c0003t0043g0127a0004c0023t0042g0076a0021c0027t0024g0149 | 3 | HG02970.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5913+207G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118288 | ||||||
| chr9:138118324
|
C | G | 58 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(55): Show | 58 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(55): Show |
intron_variant | MODIFIER | c.5913+243C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118324 | ||||||
| chr9:138118339
|
T | TTGAGACT others(15): Show |
1 | a0001c0003t0043g0127 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5913+275_5914-275d others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | INFO_REALIGN_3_PRIME | chr9 | 138118339 | |||||
| chr9:138118434
|
C | T | 4 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.5914-218C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118434 | ||||||
| chr9:138118447
|
G | A | 1 | a0001c0018t0003g0049 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5914-205G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118447 | ||||||
| chr9:138118462
|
G | T | 21 | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(18): Show | 21 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.5914-190G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118462 | ||||||
| chr9:138118607
|
C | T | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5914-45C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118607 | ||||||
| chr9:138118626
|
G | T | 1 | a0002c0004t0026g0207 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.5914-26G>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | chr9 | 138118626 | ||||||
| chr9:138118810
|
G | C | 2 | a0001c0002t0008g0241a0001c0002t0037g0242 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.6030+42G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138118810 | ||||||
| chr9:138118942
|
G | A | 1 | a0001c0005t0004g0007 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.6030+174G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138118942 | ||||||
| chr9:138119269
|
A | G | 13 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(10): Show | 13 | HG02109.hp1 HG02280.hp2 HG02717.hp2 others(10): Show |
intron_variant | MODIFIER | c.6030+501A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119269 | ||||||
| chr9:138119273
|
A | T | 1 | a0002c0004t0005g0195 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.6030+505A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119273 | ||||||
| chr9:138119297
|
T | A | 1 | a0003c0006t0001g0147 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.6030+529T>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119297 | ||||||
| chr9:138119352
|
C | T | 1 | a0007c0016t0007g0054 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6030+584C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119352 | ||||||
| chr9:138119360
|
C | T | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6030+592C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119360 | ||||||
| chr9:138119522
|
C | T | 1 | a0002c0001t0002g0226 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.6031-643C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119522 | ||||||
| chr9:138119628
|
C | T | 1 | a0002c0001t0002g0226 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.6031-537C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119628 | ||||||
| chr9:138119668
|
T | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.6031-497T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119668 | ||||||
| chr9:138119688
|
G | C | 86 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(83): Show | 86 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(83): Show |
intron_variant | MODIFIER | c.6031-477G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119688 | ||||||
| chr9:138119754
|
G | A | 9 | a0001c0002t0005g0024a0001c0003t0005g0016a0001c0003t0005g0130others(6): Show | 9 | HG02109.hp1 HG02280.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.6031-411G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119754 | ||||||
| chr9:138119822
|
G | A | 22 | a0001c0002t0002g0046a0001c0007t0003g0027a0001c0007t0003g0037others(19): Show | 22 | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(19): Show |
intron_variant | MODIFIER | c.6031-343G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119822 | ||||||
| chr9:138119953
|
C | T | 1 | a0001c0002t0001g0060 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.6031-212C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119953 | ||||||
| chr9:138119971
|
G | A | 7 | a0001c0002t0033g0025a0001c0013t0009g0099a0001c0013t0009g0203others(4): Show | 7 | HG01884.hp2 HG02683.hp1 HG03492.hp2 others(4): Show |
intron_variant | MODIFIER | c.6031-194G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138119971 | ||||||
| chr9:138120045
|
A | C | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.6031-120A>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138120045 | ||||||
| chr9:138120054
|
TG | T | 29 | a0001c0002t0001g0238a0001c0002t0004g0067a0001c0002t0004g0070others(26): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.6031-105delG | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | INFO_REALIGN_3_PRIME | chr9 | 138120054 | |||||
| chr9:138120056
|
G | C | 1 | a0001c0003t0005g0006 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6031-109G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138120056 | ||||||
| chr9:138120060
|
G | A | 29 | a0001c0002t0001g0238a0001c0002t0004g0067a0001c0002t0004g0070others(26): Show | 29 | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.6031-105G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138120060 | ||||||
| chr9:138120114
|
C | T | 3 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.6031-51C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138120114 | ||||||
| chr9:138120159
|
C | T | 1 | a0002c0001t0002g0228 | 1 | HG01243.hp1 | splice_region_variant&intron_variant | LOW | c.6031-6C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 44/46 | chr9 | 138120159 | ||||||
| chr9:138120567
|
G | C | 63 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(60): Show | 63 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(60): Show |
intron_variant | MODIFIER | c.6239-64G>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 45/46 | chr9 | 138120567 | ||||||
| chr9:138120603
|
G | A | 1 | a0002c0056t0002g0245 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.6239-28G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 45/46 | chr9 | 138120603 | ||||||
| chr9:138120899
|
A | G | 63 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(60): Show | 63 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(60): Show |
intron_variant | MODIFIER | c.6489+18A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138120899 | ||||||
| chr9:138120926
|
C | A | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6489+45C>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138120926 | ||||||
| chr9:138121037
|
G | A | 4 | a0006c0014t0006g0140a0006c0014t0006g0142a0006c0014t0006g0143others(1): Show | 4 | HG01891.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.6489+156G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121037 | ||||||
| chr9:138121115
|
G | A | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6489+234G>A | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121115 | ||||||
| chr9:138121151
|
T | C | 201 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(198): Show | 201 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(198): Show |
intron_variant | MODIFIER | c.6489+270T>C | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121151 | ||||||
| chr9:138121152
|
A | G | 176 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(173): Show | 176 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.6489+271A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121152 | ||||||
| chr9:138121266
|
A | G | 1 | a0001c0053t0028g0105 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6490-203A>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121266 | ||||||
| chr9:138121332
|
C | T | 1 | a0007c0016t0007g0054 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6490-137C>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121332 | ||||||
| chr9:138121371
|
A | T | 2 | a0001c0003t0034g0109a0001c0044t0005g0239 | 2 | HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.6490-98A>T | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121371 | ||||||
| chr9:138121377
|
C | G | 1 | a0009c0021t0010g0004 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6490-92C>G | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | chr9 | 138121377 | ||||||
| chr9:138121417
|
C | CT | 84 | a0001c0002t0001g0186a0001c0002t0002g0046a0001c0002t0004g0067others(81): Show | 84 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(81): Show |
intron_variant | MODIFIER | c.6490-34dupT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | INFO_REALIGN_3_PRIME | chr9 | 138121417 | |||||
| chr9:138121417
|
CT | C | 66 | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(63): Show | 66 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.6490-34delT | CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 46/46 | INFO_REALIGN_3_PRIME | chr9 | 138121417 |