| geneid | 8911 |
|---|---|
| ensemblid | ENSG00000100346.18 |
| hgncid | 1396 |
| symbol | CACNA1I |
| name | calcium voltage-gated channel subunit alpha1 I |
| refseq_nuc | NM_021096.4 |
| refseq_prot | NP_066919.2 |
| ensembl_nuc | ENST00000402142.4 |
| ensembl_prot | ENSP00000385019.3 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 39570753 |
| end | 39689735 |
| strand | + |
| ver | v1.2 |
| region | chr22:39570753-39689735 |
| region5000 | chr22:39565753-39694735 |
| regionname0 | CACNA1I_chr22_39570753_39689735 |
| regionname5000 | CACNA1I_chr22_39565753_39694735 |
| 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 | 2223 | 109 | 35 | 18 | 37 | 5 | 14 | 23 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002 | 1/1 | 2223 | 42 | 18 | 11 | 0 | 3 | 8 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003 | 0/0 | 2223 | 19 | 15 | 4 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004 | 0/0 | 2223 | 19 | 2 | 9 | 2 | 3 | 3 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0005 | 0/0 | 2223 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006 | 0/0 | 1851 | 7 | 1 | 4 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0007 | 0/0 | 2223 | 5 | 0 | 0 | 0 | 3 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008 | 0/0 | 2223 | 5 | 0 | 5 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0009 | 0/0 | 2223 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010 | 0/0 | 1851 | 3 | 0 | 2 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0011 | 0/0 | 2223 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0012 | 0/0 | 2223 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0013 | 0/0 | 2223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0014 | 0/0 | 2223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0015 | 0/0 | 1851 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0016 | 0/0 | 2223 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0017 | 0/0 | 2223 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0018 | 0/0 | 2223 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0019 | 0/0 | 2223 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0020 | 0/0 | 2223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0021 | 0/0 | 2223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0022 | 0/0 | 2223 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0023 | 0/0 | 2223 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0024 | 0/0 | 2223 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| 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 | 6672 | 43 | 12 | 7 | 12 | 1 | 11 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0002 | 0/0 | 6672 | 39 | 2 | 9 | 24 | 2 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0003 | 1/0 | 6672 | 30 | 10 | 9 | 0 | 3 | 7 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0004 | 0/0 | 6672 | 10 | 1 | 5 | 1 | 2 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0005 | 0/0 | 6672 | 9 | 9 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0006 | 0/0 | 6672 | 8 | 0 | 4 | 1 | 1 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0007 | 0/0 | 6672 | 8 | 8 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0008 | 0/0 | 6672 | 6 | 3 | 3 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0009 | 0/0 | 6672 | 6 | 5 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0010 | 0/0 | 6672 | 5 | 0 | 0 | 0 | 3 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0011 | 0/0 | 6672 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0012 | 0/0 | 6673 | 4 | 1 | 2 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0013 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0014 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0015 | 0/0 | 6673 | 3 | 0 | 2 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0016 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0017 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0018 | 0/0 | 6672 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0019 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0020 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0021 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0022 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0023 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0024 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0025 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0026 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0027 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0028 | 0/0 | 6673 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0029 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0030 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0031 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0032 | 0/0 | 6672 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0033 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0034 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0035 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0036 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0037 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0038 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0039 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0040 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0041 | 0/0 | 6673 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0042 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0043 | 0/0 | 6673 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0044 | 0/1 | 6672 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0045 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0046 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0047 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0048 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0049 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0050 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0051 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| c0052 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| 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 | 1/0 | 3331 | 37 | 16 | 9 | 1 | 5 | 5 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0002 | 0/0 | 3335 | 29 | 2 | 9 | 14 | 2 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0003 | 0/0 | 3333 | 24 | 3 | 4 | 9 | 2 | 6 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0004 | 0/0 | 3331 | 21 | 6 | 7 | 7 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0005 | 0/0 | 3325 | 19 | 16 | 3 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0006 | 0/0 | 3325 | 12 | 10 | 2 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0007 | 0/0 | 3337 | 11 | 2 | 3 | 5 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0008 | 0/0 | 3325 | 6 | 5 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0009 | 0/0 | 3329 | 5 | 0 | 1 | 0 | 2 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0010 | 0/0 | 3323 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0011 | 0/0 | 3335 | 3 | 1 | 0 | 0 | 1 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0012 | 0/0 | 3333 | 3 | 2 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0013 | 0/0 | 3331 | 3 | 0 | 0 | 0 | 0 | 3 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0014 | 0/0 | 3335 | 3 | 0 | 3 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0015 | 0/0 | 3329 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0016 | 0/0 | 3341 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0017 | 0/0 | 3339 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0018 | 0/0 | 3337 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0019 | 0/0 | 3337 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0020 | 0/0 | 3325 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0021 | 0/0 | 3323 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0022 | 0/0 | 3323 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0023 | 0/0 | 3347 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0024 | 0/0 | 3361 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0025 | 0/0 | 3385 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0026 | 0/1 | 3357 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0027 | 0/0 | 3333 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0028 | 0/0 | 3331 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0029 | 0/0 | 3331 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0030 | 0/0 | 3331 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0031 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0032 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0033 | 0/0 | 3339 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0034 | 0/0 | 3359 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0035 | 0/0 | 3349 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0036 | 0/0 | 3347 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0037 | 0/0 | 3341 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0038 | 0/0 | 3337 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0039 | 0/0 | 3339 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0040 | 0/0 | 3373 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0041 | 0/0 | 3337 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0042 | 0/0 | 3337 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0043 | 0/0 | 3337 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0044 | 0/0 | 3337 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0045 | 0/0 | 3335 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0046 | 0/0 | 3333 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0047 | 0/0 | 3363 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0048 | 0/0 | 3333 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0049 | 0/0 | 3329 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0050 | 0/0 | 3361 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0051 | 0/0 | 3342 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0052 | 0/0 | 3327 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0053 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0054 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0055 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0056 | 0/0 | 3342 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0057 | 0/0 | 3319 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0058 | 0/0 | 3357 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0059 | 0/0 | 3349 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| t0060 | 0/0 | 3325 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0042 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0155 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 6672 | 43 | 12 | 7 | 12 | 1 | 11 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002 | 0/0 | 6672 | 39 | 2 | 9 | 24 | 2 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0009 | 0/0 | 6672 | 6 | 5 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0014 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0018 | 0/0 | 6672 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0020 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0022 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0023 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0026 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0027 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0030 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0034 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0046 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0050 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0051 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003 | 1/0 | 6672 | 30 | 10 | 9 | 0 | 3 | 7 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0013 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0019 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0025 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0031 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0032 | 0/0 | 6672 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0044 | 0/1 | 6672 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0005 | 0/0 | 6672 | 9 | 9 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0008 | 0/0 | 6672 | 6 | 3 | 3 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0017 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0024 | 0/0 | 6672 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004 | 0/0 | 6672 | 10 | 1 | 5 | 1 | 2 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006 | 0/0 | 6672 | 8 | 0 | 4 | 1 | 1 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0049 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0005c0007 | 0/0 | 6672 | 8 | 8 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0012 | 0/0 | 6673 | 4 | 1 | 2 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0015 | 0/0 | 6673 | 3 | 0 | 2 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0007c0010 | 0/0 | 6672 | 5 | 0 | 0 | 0 | 3 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008c0011 | 0/0 | 6672 | 4 | 0 | 4 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008c0047 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0009c0016 | 0/0 | 6672 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010c0028 | 0/0 | 6673 | 2 | 0 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010c0041 | 0/0 | 6673 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0011c0029 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0012c0021 | 0/0 | 6672 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0013c0052 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0014c0033 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0015c0043 | 0/0 | 6673 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0016c0045 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0017c0036 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0018c0039 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0019c0040 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0020c0042 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0021c0038 | 0/0 | 6672 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0022c0037 | 0/0 | 6672 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0023c0048 | 0/0 | 6672 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0024c0035 | 0/0 | 6672 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 0/0 | 10006 | 7 | 0 | 2 | 4 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0003 | 0/0 | 10004 | 10 | 0 | 1 | 4 | 1 | 4 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0004 | 0/0 | 10002 | 3 | 1 | 1 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0005 | 0/0 | 9996 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0007 | 0/0 | 10008 | 2 | 0 | 1 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0008 | 0/0 | 9996 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0009 | 0/0 | 10000 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0011 | 0/0 | 10006 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0021 | 0/0 | 9994 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0036 | 0/0 | 10018 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0038 | 0/0 | 10008 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0039 | 0/0 | 10010 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0046 | 0/0 | 10004 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0047 | 0/0 | 10034 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0048 | 0/0 | 10004 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0050 | 0/0 | 10032 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0052 | 0/0 | 9998 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0001t0057 | 0/0 | 9990 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0002 | 0/0 | 10006 | 13 | 0 | 4 | 9 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0003 | 0/0 | 10004 | 7 | 0 | 2 | 4 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0004 | 0/0 | 10002 | 9 | 1 | 1 | 7 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0007 | 0/0 | 10008 | 5 | 0 | 1 | 3 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0011 | 0/0 | 10006 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0014 | 0/0 | 10006 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0017 | 0/0 | 10010 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0031 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0002t0045 | 0/0 | 10006 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0009t0002 | 0/0 | 10006 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0009t0003 | 0/0 | 10004 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0009t0004 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0009t0007 | 0/0 | 10008 | 3 | 2 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0014t0001 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0014t0012 | 0/0 | 10004 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0014t0030 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0018t0002 | 0/0 | 10006 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0020t0001 | 0/0 | 10002 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0022t0010 | 0/0 | 9994 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0022t0032 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0023t0010 | 0/0 | 9994 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0026t0051 | 0/0 | 10013 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0026t0056 | 0/0 | 10013 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0027t0015 | 0/0 | 10000 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0030t0004 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0030t0005 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0034t0028 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0046t0003 | 0/0 | 10004 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0050t0003 | 0/0 | 10004 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0001c0051t0001 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0001 | 1/0 | 10002 | 18 | 7 | 6 | 0 | 1 | 3 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0004 | 0/0 | 10002 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0009 | 0/0 | 10000 | 4 | 0 | 1 | 0 | 2 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0010 | 0/0 | 9994 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0012 | 0/0 | 10004 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0013 | 0/0 | 10002 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0025 | 0/0 | 10056 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0027 | 0/0 | 10004 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0003t0049 | 0/0 | 10000 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0013t0001 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0013t0012 | 0/0 | 10004 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0013t0029 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0019t0001 | 0/0 | 10002 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0025t0001 | 0/0 | 10002 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0031t0003 | 0/0 | 10004 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0032t0001 | 0/0 | 10002 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0032t0013 | 0/0 | 10002 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0002c0044t0026 | 0/1 | 10028 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0005t0005 | 0/0 | 9996 | 5 | 5 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0005t0008 | 0/0 | 9996 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0005t0053 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0005t0054 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0008t0005 | 0/0 | 9996 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0008t0006 | 0/0 | 9996 | 5 | 3 | 2 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0017t0005 | 0/0 | 9996 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0003c0024t0005 | 0/0 | 9996 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0016 | 0/0 | 10012 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0018 | 0/0 | 10008 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0019 | 0/0 | 10008 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0023 | 0/0 | 10018 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0034 | 0/0 | 10030 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0035 | 0/0 | 10020 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0043 | 0/0 | 10008 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0058 | 0/0 | 10028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0004t0059 | 0/0 | 10020 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0014 | 0/0 | 10006 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0016 | 0/0 | 10012 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0018 | 0/0 | 10008 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0023 | 0/0 | 10018 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0024 | 0/0 | 10032 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0037 | 0/0 | 10012 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0006t0042 | 0/0 | 10008 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0004c0049t0040 | 0/0 | 10044 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0005c0007t0006 | 0/0 | 9996 | 7 | 7 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0005c0007t0060 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0012t0003 | 0/0 | 10005 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0012t0004 | 0/0 | 10003 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0012t0005 | 0/0 | 9997 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0012t0008 | 0/0 | 9997 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0006c0015t0002 | 0/0 | 10007 | 3 | 0 | 2 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0007c0010t0001 | 0/0 | 10002 | 5 | 0 | 0 | 0 | 3 | 2 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008c0011t0003 | 0/0 | 10004 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008c0011t0004 | 0/0 | 10002 | 3 | 0 | 3 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0008c0047t0017 | 0/0 | 10010 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0009c0016t0005 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0009c0016t0015 | 0/0 | 10000 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0009c0016t0055 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010c0028t0004 | 0/0 | 10003 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010c0028t0013 | 0/0 | 10003 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0010c0041t0001 | 0/0 | 10003 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0011c0029t0020 | 0/0 | 9996 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0012c0021t0022 | 0/0 | 9994 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0013c0052t0011 | 0/0 | 10006 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0014c0033t0002 | 0/0 | 10006 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0015c0043t0007 | 0/0 | 10009 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0016c0045t0002 | 0/0 | 10006 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0017c0036t0001 | 0/0 | 10002 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0018c0039t0001 | 0/0 | 10002 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0019c0040t0033 | 0/0 | 10010 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0020c0042t0005 | 0/0 | 9996 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0021c0038t0001 | 0/0 | 10002 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0022c0037t0041 | 0/0 | 10008 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0023c0048t0002 | 0/0 | 10006 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| a0024c0035t0044 | 0/0 | 10008 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | copy fasta | chr22 | 39565753 | 39694735 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0003g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0004g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0004g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0004g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0005g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0005g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0005g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0005g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0005g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0007g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0007g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0008g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0008g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0008g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0009g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0011g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0021g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0021g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0036g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0038g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0039g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0046g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0047g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0048g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0050g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0052g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0001t0057g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0002g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0003g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0004g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0007g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0007g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0007g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0007g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0007g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0011g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0014g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0017g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0031g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0002t0045g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0004g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0007g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0007g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0009t0007g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0014t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0014t0012g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0014t0030g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0018t0002g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0018t0002g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0020t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0020t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0022t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0022t0032g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0023t0010g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0023t0010g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0026t0051g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0026t0056g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0027t0015g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0027t0015g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0030t0004g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0030t0005g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0034t0028g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0046t0003g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0050t0003g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0001c0051t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0042 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0004g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0009g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0009g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0009g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0009g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0010g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0012g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0013g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0025g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0027g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0003t0049g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0013t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0013t0012g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0013t0029g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0019t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0019t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0025t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0025t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0031t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0031t0003g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0032t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0032t0013g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0002c0044t0026g0155 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0005g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0005g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0005g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0005g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0005g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0008g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0008g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0053g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0005t0054g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0005g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0006g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0006g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0006g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0006g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0008t0006g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0017t0005g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0017t0005g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0024t0005g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0003c0024t0005g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0016g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0018g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0019g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0019g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0023g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0034g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0035g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0043g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0058g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0004t0059g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0014g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0014g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0016g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0018g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0023g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0024g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0037g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0006t0042g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0004c0049t0040g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0006g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0005c0007t0060g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0012t0003g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0012t0004g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0012t0005g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0012t0008g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0015t0002g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0015t0002g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0006c0015t0002g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0007c0010t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0007c0010t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0007c0010t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0007c0010t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0007c0010t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0008c0011t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0008c0011t0004g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0008c0011t0004g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0008c0011t0004g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0008c0047t0017g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0009c0016t0005g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0009c0016t0015g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0009c0016t0055g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0010c0028t0004g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0010c0028t0013g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0010c0041t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0011c0029t0020g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0011c0029t0020g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0012c0021t0022g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0012c0021t0022g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0013c0052t0011g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0014c0033t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0015c0043t0007g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0016c0045t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0017c0036t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0018c0039t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0019c0040t0033g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0020c0042t0005g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0021c0038t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0022c0037t0041g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0023c0048t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| a0024c0035t0044g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0011 | g0069 | EUR | GBR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00099 | hp2 | a0007 | c0010 | t0001 | g0018 | EUR | GBR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00140 | hp1 | a0007 | c0010 | t0001 | g0154 | EUR | GBR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00140 | hp2 | a0002 | c0003 | t0009 | g0054 | EUR | GBR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00280 | hp1 | a0007 | c0010 | t0001 | g0053 | EUR | FIN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00280 | hp2 | a0022 | c0037 | t0041 | g0166 | EUR | FIN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00323 | hp1 | a0018 | c0039 | t0001 | g0024 | EUR | FIN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00323 | hp2 | a0001 | c0002 | t0003 | g0180 | EUR | FIN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00408 | hp1 | a0001 | c0002 | t0003 | g0183 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00408 | hp2 | a0001 | c0002 | t0002 | g0213 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00544 | hp1 | a0001 | c0001 | t0046 | g0115 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00544 | hp2 | a0001 | c0002 | t0002 | g0205 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0147 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00609 | hp2 | a0023 | c0048 | t0002 | g0211 | EAS | CHS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00639 | hp1 | a0019 | c0040 | t0033 | g0076 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00639 | hp2 | a0003 | c0024 | t0005 | g0174 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00642 | hp1 | a0004 | c0004 | t0018 | g0003 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00642 | hp2 | a0010 | c0028 | t0004 | g0035 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00733 | hp1 | a0001 | c0002 | t0004 | g0190 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00733 | hp2 | a0004 | c0006 | t0014 | g0207 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0060 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG00741 | hp2 | a0002 | c0003 | t0001 | g0020 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01071 | hp1 | a0002 | c0003 | t0009 | g0015 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0162 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01081 | hp1 | a0002 | c0003 | t0001 | g0034 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01081 | hp2 | a0008 | c0011 | t0004 | g0062 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01099 | hp1 | a0006 | c0012 | t0004 | g0031 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01099 | hp2 | a0024 | c0035 | t0044 | g0167 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01106 | hp1 | a0001 | c0001 | t0038 | g0161 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01106 | hp2 | a0001 | c0002 | t0007 | g0229 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01109 | hp1 | a0003 | c0008 | t0006 | g0085 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01109 | hp2 | a0001 | c0026 | t0056 | g0071 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01169 | hp1 | a0008 | c0011 | t0004 | g0059 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01169 | hp2 | a0004 | c0006 | t0042 | g0181 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01175 | hp1 | a0003 | c0008 | t0005 | g0177 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01175 | hp2 | a0002 | c0019 | t0001 | g0029 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01192 | hp1 | a0001 | c0001 | t0007 | g0038 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01192 | hp2 | a0002 | c0003 | t0027 | g0019 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01243 | hp1 | a0001 | c0001 | t0005 | g0125 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01243 | hp2 | a0001 | c0009 | t0007 | g0135 | AMR | PUR | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01255 | hp1 | a0002 | c0003 | t0049 | g0010 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01255 | hp2 | a0006 | c0015 | t0002 | g0225 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01257 | hp1 | a0002 | c0003 | t0001 | g0032 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01257 | hp2 | a0008 | c0011 | t0003 | g0061 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01261 | hp1 | a0010 | c0041 | t0001 | g0037 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01261 | hp2 | a0004 | c0006 | t0014 | g0208 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01346 | hp1 | a0001 | c0002 | t0002 | g0179 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01346 | hp2 | a0002 | c0032 | t0001 | g0231 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01358 | hp1 | a0004 | c0004 | t0023 | g0057 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01358 | hp2 | a0001 | c0001 | t0004 | g0065 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01361 | hp1 | a0002 | c0003 | t0001 | g0001 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01361 | hp2 | a0004 | c0004 | t0043 | g0064 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01496 | hp1 | a0006 | c0015 | t0002 | g0188 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01496 | hp2 | a0003 | c0008 | t0006 | g0094 | AMR | CLM | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01515 | hp1 | a0004 | c0006 | t0018 | g0178 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01515 | hp2 | a0001 | c0018 | t0002 | g0157 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01516 | hp1 | a0004 | c0004 | t0019 | g0022 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01516 | hp2 | a0001 | c0001 | t0003 | g0151 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01517 | hp1 | a0004 | c0004 | t0019 | g0021 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01517 | hp2 | a0001 | c0018 | t0002 | g0158 | EUR | IBS | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01884 | hp1 | a0001 | c0026 | t0051 | g0169 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01884 | hp2 | a0002 | c0013 | t0012 | g0137 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01891 | hp1 | a0001 | c0022 | t0032 | g0030 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01891 | hp2 | a0001 | c0027 | t0015 | g0136 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01928 | hp1 | a0001 | c0002 | t0003 | g0228 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01928 | hp2 | a0008 | c0011 | t0004 | g0068 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01934 | hp1 | a0001 | c0002 | t0002 | g0235 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01934 | hp2 | a0006 | c0012 | t0008 | g0143 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01943 | hp1 | a0001 | c0002 | t0003 | g0212 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01943 | hp2 | a0002 | c0003 | t0001 | g0026 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01975 | hp1 | a0016 | c0045 | t0002 | g0220 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01975 | hp2 | a0001 | c0002 | t0002 | g0234 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01978 | hp1 | a0004 | c0006 | t0023 | g0227 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01978 | hp2 | a0008 | c0047 | t0017 | g0202 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01993 | hp1 | a0004 | c0004 | t0059 | g0058 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG01993 | hp2 | a0001 | c0002 | t0002 | g0230 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02055 | hp1 | a0001 | c0009 | t0003 | g0103 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02055 | hp2 | a0001 | c0001 | t0008 | g0139 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02071 | hp1 | a0017 | c0036 | t0001 | g0043 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02071 | hp2 | a0015 | c0043 | t0007 | g0149 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02080 | hp1 | a0001 | c0002 | t0003 | g0186 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02080 | hp2 | a0001 | c0001 | t0050 | g0153 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02083 | hp1 | a0001 | c0001 | t0047 | g0168 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02083 | hp2 | a0001 | c0002 | t0002 | g0206 | EAS | KHV | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02145 | hp1 | a0002 | c0003 | t0001 | g0073 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02145 | hp2 | a0003 | c0005 | t0053 | g0142 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02155 | hp1 | a0001 | c0002 | t0045 | g0195 | EAS | CDX | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02155 | hp2 | a0001 | c0002 | t0003 | g0219 | EAS | CDX | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02165 | hp1 | a0004 | c0004 | t0016 | g0150 | EAS | CDX | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02165 | hp2 | a0001 | c0001 | t0007 | g0141 | EAS | CDX | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02257 | hp1 | a0001 | c0034 | t0028 | g0102 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02257 | hp2 | a0004 | c0049 | t0040 | g0182 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02273 | hp1 | a0001 | c0002 | t0014 | g0226 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02273 | hp2 | a0004 | c0004 | t0058 | g0070 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02280 | hp1 | a0002 | c0003 | t0001 | g0049 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02280 | hp2 | a0001 | c0020 | t0001 | g0146 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02293 | hp1 | a0002 | c0003 | t0001 | g0027 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02293 | hp2 | a0001 | c0001 | t0003 | g0152 | AMR | PEL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02451 | hp1 | a0005 | c0007 | t0006 | g0098 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02451 | hp2 | a0002 | c0003 | t0001 | g0163 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02572 | hp1 | a0001 | c0009 | t0004 | g0132 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02572 | hp2 | a0003 | c0005 | t0008 | g0044 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02615 | hp1 | a0012 | c0021 | t0022 | g0072 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02615 | hp2 | a0006 | c0012 | t0005 | g0120 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02622 | hp1 | a0001 | c0020 | t0001 | g0176 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02622 | hp2 | a0001 | c0023 | t0010 | g0113 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02630 | hp1 | a0001 | c0001 | t0036 | g0086 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02630 | hp2 | a0003 | c0005 | t0008 | g0171 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02683 | hp1 | a0004 | c0006 | t0037 | g0216 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02683 | hp2 | a0004 | c0004 | t0034 | g0011 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02698 | hp1 | a0002 | c0003 | t0001 | g0033 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02698 | hp2 | a0006 | c0012 | t0003 | g0013 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02717 | hp1 | a0005 | c0007 | t0006 | g0097 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02717 | hp2 | a0001 | c0030 | t0005 | g0127 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02735 | hp1 | a0004 | c0006 | t0024 | g0217 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02735 | hp2 | a0001 | c0001 | t0004 | g0133 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02738 | hp1 | a0010 | c0028 | t0013 | g0052 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02738 | hp2 | a0007 | c0010 | t0001 | g0016 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02809 | hp1 | a0002 | c0003 | t0010 | g0047 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02809 | hp2 | a0001 | c0001 | t0005 | g0118 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02818 | hp1 | a0012 | c0021 | t0022 | g0087 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02818 | hp2 | a0003 | c0008 | t0006 | g0084 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02886 | hp1 | a0001 | c0014 | t0030 | g0129 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02886 | hp2 | a0005 | c0007 | t0006 | g0096 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02895 | hp1 | a0003 | c0005 | t0005 | g0170 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02895 | hp2 | a0002 | c0031 | t0003 | g0080 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02896 | hp1 | a0011 | c0029 | t0020 | g0083 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02896 | hp2 | a0003 | c0024 | t0005 | g0175 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02897 | hp1 | a0011 | c0029 | t0020 | g0082 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02897 | hp2 | a0002 | c0031 | t0003 | g0081 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02922 | hp1 | a0001 | c0027 | t0015 | g0092 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02922 | hp2 | a0001 | c0001 | t0004 | g0107 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02965 | hp1 | a0013 | c0052 | t0011 | g0110 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02965 | hp2 | a0001 | c0001 | t0008 | g0008 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02970 | hp1 | a0005 | c0007 | t0006 | g0112 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02970 | hp2 | a0002 | c0003 | t0001 | g0106 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02976 | hp1 | a0001 | c0014 | t0001 | g0045 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02976 | hp2 | a0001 | c0001 | t0039 | g0121 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03017 | hp1 | a0002 | c0003 | t0012 | g0002 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03017 | hp2 | a0001 | c0001 | t0011 | g0063 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03041 | hp1 | a0002 | c0013 | t0029 | g0164 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03041 | hp2 | a0003 | c0005 | t0005 | g0056 | AFR | GWD | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03098 | hp1 | a0009 | c0016 | t0005 | g0108 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03098 | hp2 | a0001 | c0014 | t0012 | g0126 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03139 | hp1 | a0002 | c0003 | t0001 | g0048 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03139 | hp2 | a0001 | c0009 | t0007 | g0105 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03195 | hp1 | a0002 | c0003 | t0001 | g0046 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03195 | hp2 | a0002 | c0013 | t0001 | g0140 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03209 | hp1 | a0003 | c0005 | t0005 | g0079 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03209 | hp2 | a0001 | c0023 | t0010 | g0130 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03225 | hp1 | a0003 | c0005 | t0005 | g0172 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03225 | hp2 | a0009 | c0016 | t0015 | g0111 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03453 | hp1 | a0003 | c0005 | t0005 | g0055 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03453 | hp2 | a0014 | c0033 | t0002 | g0078 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03486 | hp1 | a0005 | c0007 | t0006 | g0101 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03486 | hp2 | a0003 | c0005 | t0054 | g0066 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03491 | hp1 | a0001 | c0001 | t0021 | g0039 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03491 | hp2 | a0002 | c0032 | t0013 | g0224 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03492 | hp1 | a0001 | c0001 | t0021 | g0040 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03492 | hp2 | a0002 | c0003 | t0001 | g0156 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03516 | hp1 | a0002 | c0003 | t0004 | g0006 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03516 | hp2 | a0005 | c0007 | t0060 | g0095 | AFR | ESN | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03579 | hp1 | a0009 | c0016 | t0055 | g0109 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03579 | hp2 | a0021 | c0038 | t0001 | g0074 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03704 | hp1 | a0001 | c0001 | t0003 | g0122 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03704 | hp2 | a0001 | c0001 | t0003 | g0160 | SAS | PJL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03834 | hp1 | a0002 | c0003 | t0009 | g0012 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03834 | hp2 | a0002 | c0003 | t0013 | g0017 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0123 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03942 | hp2 | a0001 | c0046 | t0003 | g0185 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04115 | hp1 | a0001 | c0001 | t0048 | g0128 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04115 | hp2 | a0007 | c0010 | t0001 | g0001 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04184 | hp1 | a0001 | c0002 | t0017 | g0215 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04184 | hp2 | a0006 | c0015 | t0002 | g0221 | SAS | BEB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04199 | hp1 | a0001 | c0002 | t0007 | g0196 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04199 | hp2 | a0001 | c0001 | t0003 | g0041 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04204 | hp1 | a0002 | c0003 | t0025 | g0028 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG04204 | hp2 | a0001 | c0001 | t0003 | g0023 | SAS | STU | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18522 | hp1 | a0001 | c0001 | t0057 | g0067 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18522 | hp2 | a0001 | c0030 | t0004 | g0138 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18612 | hp1 | a0001 | c0002 | t0002 | g0223 | EAS | CHB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18612 | hp2 | a0001 | c0001 | t0003 | g0116 | EAS | CHB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18906 | hp1 | a0003 | c0017 | t0005 | g0089 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18906 | hp2 | a0003 | c0008 | t0006 | g0093 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18945 | hp1 | a0001 | c0001 | t0003 | g0165 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18945 | hp2 | a0001 | c0002 | t0002 | g0204 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18947 | hp1 | a0001 | c0002 | t0002 | g0193 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18952 | hp1 | a0001 | c0002 | t0007 | g0203 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18952 | hp2 | a0001 | c0002 | t0004 | g0209 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18954 | hp1 | a0001 | c0002 | t0002 | g0192 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18954 | hp2 | a0001 | c0001 | t0002 | g0148 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0145 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18964 | hp2 | a0001 | c0002 | t0004 | g0198 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18966 | hp1 | a0001 | c0001 | t0003 | g0114 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18966 | hp2 | a0001 | c0002 | t0002 | g0210 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18969 | hp1 | a0004 | c0006 | t0016 | g0191 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18969 | hp2 | a0001 | c0050 | t0003 | g0201 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18982 | hp1 | a0001 | c0002 | t0004 | g0184 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA18982 | hp2 | a0001 | c0002 | t0007 | g0218 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19009 | hp1 | a0001 | c0002 | t0004 | g0199 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19009 | hp2 | a0001 | c0002 | t0002 | g0189 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19011 | hp1 | a0001 | c0002 | t0003 | g0222 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19011 | hp2 | a0001 | c0002 | t0004 | g0197 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19012 | hp1 | a0001 | c0002 | t0007 | g0214 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19012 | hp2 | a0001 | c0002 | t0004 | g0187 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19030 | hp1 | a0001 | c0002 | t0004 | g0232 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19030 | hp2 | a0002 | c0003 | t0001 | g0051 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19043 | hp1 | a0020 | c0042 | t0005 | g0077 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19043 | hp2 | a0001 | c0022 | t0010 | g0004 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19091 | hp1 | a0001 | c0002 | t0004 | g0233 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19091 | hp2 | a0001 | c0001 | t0003 | g0173 | EAS | JPT | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19240 | hp1 | a0002 | c0003 | t0004 | g0005 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA19240 | hp2 | a0002 | c0025 | t0001 | g0090 | AFR | YRI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20129 | hp1 | a0003 | c0008 | t0006 | g0124 | AFR | ASW | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20129 | hp2 | a0003 | c0017 | t0005 | g0088 | AFR | ASW | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20805 | hp1 | a0002 | c0003 | t0009 | g0014 | EUR | TSI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20805 | hp2 | a0002 | c0003 | t0001 | g0159 | EUR | TSI | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20905 | hp1 | a0002 | c0003 | t0001 | g0144 | SAS | GIH | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20905 | hp2 | a0001 | c0001 | t0009 | g0134 | SAS | GIH | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02109 | hp1 | a0001 | c0051 | t0001 | g0194 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02109 | hp2 | a0001 | c0001 | t0005 | g0119 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02486 | hp1 | a0001 | c0009 | t0002 | g0009 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02486 | hp2 | a0005 | c0007 | t0006 | g0100 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02559 | hp1 | a0005 | c0007 | t0006 | g0099 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG02559 | hp2 | a0001 | c0001 | t0052 | g0075 | AFR | ACB | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03471 | hp1 | a0001 | c0001 | t0005 | g0050 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG03471 | hp2 | a0001 | c0002 | t0031 | g0200 | AFR | MSL | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG06807 | hp1 | a0004 | c0004 | t0035 | g0025 | AFR | USA | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| HG06807 | hp2 | a0001 | c0009 | t0007 | g0104 | AFR | USA | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20300 | hp1 | a0002 | c0019 | t0001 | g0036 | AFR | USA | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA20300 | hp2 | a0001 | c0001 | t0008 | g0131 | AFR | USA | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA21309 | hp1 | a0001 | c0001 | t0005 | g0007 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| NA21309 | hp2 | a0002 | c0025 | t0001 | g0091 | AFR | LWK | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0044 | t0026 | g0155 | REF | REF | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| homoSapiens_grch38 | hp1 | a0002 | c0003 | t0001 | g0042 | REF | REF | CACNA1I_chr22_39565753_39694735 | CACNA1I | chr22 | 39565753 | 39694735 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:39570772
|
C | T | 3 | a0005a0009a0013 | 12 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
missense_variant | MODERATE | c.20C>T | p.Pro7Leu | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/37 | 20/10002 | 20/6672 | 7/2223 | chr22 | 39570772 | ||
| chr22:39641024
|
G | A | 1 | a0014 | 1 | HG03453.hp2 | missense_variant | MODERATE | c.898G>A | p.Val300Ile | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/37 | 898/10002 | 898/6672 | 300/2223 | chr22 | 39641024 | ||
| chr22:39649567
|
C | T | 1 | a0015 | 1 | HG02071.hp2 | missense_variant | MODERATE | c.1634C>T | p.Thr545Met | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1634/10002 | 1634/6672 | 545/2223 | chr22 | 39649567 | ||
| chr22:39649717
|
G | A | 1 | a0016 | 1 | HG01975.hp1 | missense_variant | MODERATE | c.1784G>A | p.Arg595Gln | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1784/10002 | 1784/6672 | 595/2223 | chr22 | 39649717 | ||
| chr22:39649779
|
G | C | 1 | a0024 | 1 | HG01099.hp2 | missense_variant | MODERATE | c.1846G>C | p.Asp616His | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1846/10002 | 1846/6672 | 616/2223 | chr22 | 39649779 | ||
| chr22:39649896
|
G | A | 1 | a0017 | 1 | HG02071.hp1 | missense_variant | MODERATE | c.1963G>A | p.Val655Ile | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1963/10002 | 1963/6672 | 655/2223 | chr22 | 39649896 | ||
| chr22:39659724
|
G | A | 1 | a0018 | 1 | HG00323.hp1 | missense_variant | MODERATE | c.2476G>A | p.Val826Ile | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/37 | 2476/10002 | 2476/6672 | 826/2223 | chr22 | 39659724 | ||
| chr22:39661122
|
C | T | 1 | a0023 | 1 | HG00609.hp2 | missense_variant | MODERATE | c.2713C>T | p.Pro905Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 16/37 | 2713/10002 | 2713/6672 | 905/2223 | chr22 | 39661122 | ||
| chr22:39662181
|
A | G | 16 | a0001a0003a0004others(13): Show | 180 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(177): Show |
missense_variant | MODERATE | c.3118A>G | p.Ile1040Val | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 17/37 | 3118/10002 | 3118/6672 | 1040/2223 | chr22 | 39662181 | ||
| chr22:39670953
|
C | T | 4 | a0003a0005a0011others(1): Show | 30 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(27): Show |
missense_variant&splice_region_variant | MODERATE | c.4538C>T | p.Thr1513Met | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/37 | 4538/10002 | 4538/6672 | 1513/2223 | chr22 | 39670953 | ||
| chr22:39679336
|
C | T | 1 | a0007 | 5 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(2): Show |
missense_variant | MODERATE | c.5285C>T | p.Pro1762Leu | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5285/10002 | 5285/6672 | 1762/2223 | chr22 | 39679336 | ||
| chr22:39679394
|
C | CG | 3 | a0006a0010a0015 | 11 | HG00642.hp2 HG01099.hp1 HG01255.hp2 others(8): Show |
frameshift_variant | HIGH | c.5348dupG | p.Asp1784fs | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5349/10002 | 5349/6672 | 1783/2223 | INFO_REALIGN_3_PRIME | chr22 | 39679394 | |
| chr22:39679395
|
G | A | 2 | a0004a0019 | 20 | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(17): Show |
missense_variant | MODERATE | c.5344G>A | p.Gly1782Arg | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5344/10002 | 5344/6672 | 1782/2223 | chr22 | 39679395 | ||
| chr22:39679422
|
C | T | 1 | a0020 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.5371C>T | p.Arg1791Trp | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5371/10002 | 5371/6672 | 1791/2223 | chr22 | 39679422 | ||
| chr22:39682541
|
G | A | 1 | a0022 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.5710G>A | p.Glu1904Lys | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/37 | 5710/10002 | 5710/6672 | 1904/2223 | chr22 | 39682541 | ||
| chr22:39685794
|
C | T | 1 | a0021 | 1 | HG03579.hp2 | missense_variant | MODERATE | c.6061C>T | p.Pro2021Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 6061/10002 | 6061/6672 | 2021/2223 | chr22 | 39685794 | ||
| chr22:39686121
|
C | A | 1 | a0012 | 2 | HG02615.hp1 HG02818.hp1 |
missense_variant | MODERATE | c.6388C>A | p.Leu2130Ile | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 6388/10002 | 6388/6672 | 2130/2223 | chr22 | 39686121 | ||
| chr22:39686301
|
G | A | 1 | a0008 | 5 | HG01081.hp2 HG01169.hp1 HG01257.hp2 others(2): Show |
missense_variant | MODERATE | c.6568G>A | p.Gly2190Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 6568/10002 | 6568/6672 | 2190/2223 | chr22 | 39686301 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:39570851
|
C | T | 11 | a0001c0002a0001c0046a0001c0050others(8): Show | 59 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(56): Show |
synonymous_variant | LOW | c.99C>T | p.Ser33Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/37 | 99/10002 | 99/6672 | 33/2223 | chr22 | 39570851 | ||
| chr22:39570986
|
C | T | 1 | a0002c0031 | 2 | HG02895.hp2 HG02897.hp2 |
splice_region_variant&synonymous_variant | LOW | c.234C>T | p.Asn78Asn | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/37 | 234/10002 | 234/6672 | 78/2223 | chr22 | 39570986 | ||
| chr22:39634680
|
G | A | 1 | a0003c0017 | 2 | NA18906.hp1 NA20129.hp2 |
synonymous_variant | LOW | c.696G>A | p.Ala232Ala | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/37 | 696/10002 | 696/6672 | 232/2223 | chr22 | 39634680 | ||
| chr22:39640903
|
G | A | 1 | a0001c0018 | 2 | HG01515.hp2 HG01517.hp2 |
synonymous_variant | LOW | c.777G>A | p.Pro259Pro | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/37 | 777/10002 | 777/6672 | 259/2223 | chr22 | 39640903 | ||
| chr22:39646706
|
C | A | 1 | a0001c0034 | 1 | HG02257.hp1 | synonymous_variant | LOW | c.1287C>A | p.Ala429Ala | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/37 | 1287/10002 | 1287/6672 | 429/2223 | chr22 | 39646706 | ||
| chr22:39646715
|
C | T | 1 | a0002c0044 | 1 | homoSapiens_chm13v2.hp1 | synonymous_variant | LOW | c.1296C>T | p.Gly432Gly | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/37 | 1296/10002 | 1296/6672 | 432/2223 | chr22 | 39646715 | ||
| chr22:39646826
|
G | A | 1 | a0002c0019 | 2 | HG01175.hp2 NA20300.hp1 |
synonymous_variant | LOW | c.1407G>A | p.Pro469Pro | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/37 | 1407/10002 | 1407/6672 | 469/2223 | chr22 | 39646826 | ||
| chr22:39647862
|
C | T | 1 | a0001c0030 | 2 | HG02717.hp2 NA18522.hp2 |
synonymous_variant | LOW | c.1503C>T | p.Leu501Leu | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/37 | 1503/10002 | 1503/6672 | 501/2223 | chr22 | 39647862 | ||
| chr22:39649532
|
G | A | 1 | a0001c0018 | 2 | HG01515.hp2 HG01517.hp2 |
synonymous_variant | LOW | c.1599G>A | p.Ala533Ala | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1599/10002 | 1599/6672 | 533/2223 | chr22 | 39649532 | ||
| chr22:39649583
|
C | T | 2 | a0001c0014a0001c0051 | 4 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
synonymous_variant | LOW | c.1650C>T | p.Pro550Pro | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1650/10002 | 1650/6672 | 550/2223 | chr22 | 39649583 | ||
| chr22:39649649
|
G | A | 4 | a0001c0014a0001c0020a0001c0051others(1): Show | 8 | HG02109.hp1 HG02280.hp2 HG02615.hp1 others(5): Show |
synonymous_variant | LOW | c.1716G>A | p.Ser572Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1716/10002 | 1716/6672 | 572/2223 | chr22 | 39649649 | ||
| chr22:39649799
|
C | T | 4 | a0001c0009a0012c0021a0014c0033others(1): Show | 10 | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(7): Show |
synonymous_variant | LOW | c.1866C>T | p.Cys622Cys | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1866/10002 | 1866/6672 | 622/2223 | chr22 | 39649799 | ||
| chr22:39649919
|
C | T | 1 | a0001c0050 | 1 | NA18969.hp2 | synonymous_variant | LOW | c.1986C>T | p.His662His | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/37 | 1986/10002 | 1986/6672 | 662/2223 | chr22 | 39649919 | ||
| chr22:39658280
|
C | T | 1 | a0004c0049 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.2121C>T | p.Phe707Phe | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 11/37 | 2121/10002 | 2121/6672 | 707/2223 | chr22 | 39658280 | ||
| chr22:39658943
|
T | C | 39 | a0001c0001a0001c0002a0001c0009others(36): Show | 185 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(182): Show |
synonymous_variant | LOW | c.2157T>C | p.Ile719Ile | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 12/37 | 2157/10002 | 2157/6672 | 719/2223 | chr22 | 39658943 | ||
| chr22:39659777
|
C | T | 1 | a0001c0027 | 2 | HG01891.hp2 HG02922.hp1 |
synonymous_variant | LOW | c.2529C>T | p.Val843Val | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/37 | 2529/10002 | 2529/6672 | 843/2223 | chr22 | 39659777 | ||
| chr22:39660349
|
C | T | 1 | a0001c0026 | 2 | HG01109.hp2 HG01884.hp1 |
synonymous_variant | LOW | c.2610C>T | p.Asp870Asp | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 15/37 | 2610/10002 | 2610/6672 | 870/2223 | chr22 | 39660349 | ||
| chr22:39661268
|
T | C | 36 | a0001c0001a0001c0002a0001c0009others(33): Show | 178 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(175): Show |
synonymous_variant | LOW | c.2859T>C | p.Ser953Ser | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 16/37 | 2859/10002 | 2859/6672 | 953/2223 | chr22 | 39661268 | ||
| chr22:39664762
|
C | T | 2 | a0003c0008a0005c0007 | 14 | HG01109.hp1 HG01175.hp1 HG01496.hp2 others(11): Show |
synonymous_variant | LOW | c.3690C>T | p.Phe1230Phe | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/37 | 3690/10002 | 3690/6672 | 1230/2223 | chr22 | 39664762 | ||
| chr22:39664882
|
C | T | 1 | a0003c0024 | 2 | HG00639.hp2 HG02896.hp2 |
synonymous_variant | LOW | c.3810C>T | p.Val1270Val | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/37 | 3810/10002 | 3810/6672 | 1270/2223 | chr22 | 39664882 | ||
| chr22:39670112
|
C | T | 1 | a0010c0041 | 1 | HG01261.hp1 | synonymous_variant | LOW | c.4269C>T | p.Leu1423Leu | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/37 | 4269/10002 | 4269/6672 | 1423/2223 | chr22 | 39670112 | ||
| chr22:39679319
|
T | C | 2 | a0001c0022a0012c0021 | 4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
synonymous_variant | LOW | c.5268T>C | p.His1756His | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/37 | 5268/10002 | 5268/6672 | 1756/2223 | chr22 | 39679319 | ||
| chr22:39679820
|
C | T | 2 | a0001c0023a0001c0034 | 3 | HG02257.hp1 HG02622.hp2 HG03209.hp2 |
synonymous_variant | LOW | c.5493C>T | p.His1831His | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/37 | 5493/10002 | 5493/6672 | 1831/2223 | chr22 | 39679820 | ||
| chr22:39686078
|
C | G | 1 | a0002c0025 | 2 | NA19240.hp2 NA21309.hp2 |
synonymous_variant | LOW | c.6345C>G | p.Gly2115Gly | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 6345/10002 | 6345/6672 | 2115/2223 | chr22 | 39686078 | ||
| chr22:39686147
|
G | A | 1 | a0001c0046 | 1 | HG03942.hp2 | synonymous_variant | LOW | c.6414G>A | p.Pro2138Pro | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 6414/10002 | 6414/6672 | 2138/2223 | chr22 | 39686147 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:39686442
|
C | T | 1 | a0005c0007t0060 | 1 | HG03516.hp2 | 3_prime_UTR_variant | MODIFIER | c.*37C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 37 | chr22 | 39686442 | |||||
| chr22:39686511
|
G | A | 3 | a0002c0003t0025a0002c0044t0026a0004c0006t0024 | 3 | HG02735.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1 |
3_prime_UTR_variant | MODIFIER | c.*106G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 106 | chr22 | 39686511 | |||||
| chr22:39686517
|
G | T | 4 | a0004c0004t0023a0004c0004t0058a0004c0004t0059others(1): Show | 4 | HG01358.hp1 HG01978.hp1 HG01993.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*112G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 112 | chr22 | 39686517 | |||||
| chr22:39686608
|
A | ACATATAT others(9): Show |
3 | a0001c0001t0036a0004c0004t0023a0004c0006t0023 | 3 | HG01358.hp1 HG01978.hp1 HG02630.hp1 |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(10): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686608 | ||||
| chr22:39686609
|
C | CATATATA others(11): Show |
2 | a0004c0004t0035a0004c0004t0059 | 2 | HG01993.hp1 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686609 | ||||
| chr22:39686609
|
C | CATATATA others(19): Show |
1 | a0004c0004t0058 | 1 | HG02273.hp2 | 3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686609 | ||||
| chr22:39686609
|
C | CATATATA others(21): Show |
1 | a0004c0004t0034 | 1 | HG02683.hp2 | 3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686609 | ||||
| chr22:39686609
|
CAT | C | 30 | a0001c0001t0005a0001c0001t0009a0001c0001t0021others(27): Show | 58 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(55): Show |
3_prime_UTR_variant | MODIFIER | c.*219_*220delAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686609 | ||||
| chr22:39686615
|
T | TATATATA others(3): Show |
3 | a0004c0004t0016a0004c0006t0016a0004c0006t0037 | 3 | HG02165.hp1 HG02683.hp1 NA18969.hp1 |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686615 | ||||
| chr22:39686617
|
T | TATATATG others(1): Show |
4 | a0001c0001t0039a0001c0002t0017a0008c0047t0017others(1): Show | 4 | HG00639.hp1 HG01978.hp2 HG02976.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(2): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686617 | ||||
| chr22:39686619
|
T | TATATGC | 12 | a0001c0001t0007a0001c0001t0038a0001c0002t0007others(9): Show | 20 | HG00280.hp2 HG00642.hp1 HG01099.hp2 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686619 | ||||
| chr22:39686619
|
T | TATATGCA others(35): Show |
1 | a0004c0049t0040 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(36): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686619 | ||||
| chr22:39686621
|
T | TATGC | 11 | a0001c0001t0002a0001c0002t0002a0001c0002t0014others(8): Show | 33 | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(30): Show |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGCAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686621 | ||||
| chr22:39686621
|
T | TATGCATA others(23): Show |
1 | a0001c0001t0050 | 1 | HG02080.hp2 | 3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | 39686621 | ||||
| chr22:39686623
|
T | TGC | 10 | a0001c0001t0003a0001c0001t0046a0001c0001t0048others(7): Show | 26 | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*218_*219insGC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | chr22 | 39686623 | |||||
| chr22:39686623
|
T | TGCATATA others(25): Show |
1 | a0001c0001t0047 | 1 | HG02083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*218_*219insGCATAT others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | chr22 | 39686623 | |||||
| chr22:39686624
|
A | G | 8 | a0001c0001t0004a0001c0002t0004a0001c0009t0004others(5): Show | 21 | HG00642.hp2 HG00733.hp1 HG01081.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*219A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | chr22 | 39686624 | |||||
| chr22:39686625
|
T | C | 8 | a0001c0001t0004a0001c0002t0004a0001c0009t0004others(5): Show | 21 | HG00642.hp2 HG00733.hp1 HG01081.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*220T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 220 | chr22 | 39686625 | |||||
| chr22:39686626
|
G | A | 58 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(55): Show | 117 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(114): Show |
3_prime_UTR_variant | MODIFIER | c.*221G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 221 | chr22 | 39686626 | |||||
| chr22:39686627
|
C | CAT | 4 | a0001c0014t0012a0002c0003t0012a0002c0003t0027others(1): Show | 4 | HG01192.hp2 HG01884.hp2 HG03017.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*247_*248dupAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 249 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
C | CATAT | 3 | a0001c0001t0011a0001c0002t0011a0013c0052t0011 | 3 | HG00099.hp1 HG02965.hp1 HG03017.hp2 |
3_prime_UTR_variant | MODIFIER | c.*245_*248dupATAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 249 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
C | CATATATA others(23): Show |
1 | a0004c0006t0024 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*249_*250insCATATA others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 250 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
C | T | 58 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(55): Show | 117 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(114): Show |
3_prime_UTR_variant | MODIFIER | c.*222C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 222 | chr22 | 39686627 | |||||
| chr22:39686627
|
CAT | C | 3 | a0001c0001t0052a0001c0026t0051a0001c0026t0056 | 3 | HG01109.hp2 HG01884.hp1 HG02559.hp2 |
3_prime_UTR_variant | MODIFIER | c.*247_*248delAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 247 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
CATAT | C | 16 | a0001c0001t0005a0001c0030t0005a0003c0005t0005others(13): Show | 37 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*245_*248delATAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 245 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
CATATAT | C | 10 | a0001c0001t0008a0001c0001t0021a0001c0002t0031others(7): Show | 16 | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*243_*248delATATAT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 243 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686627
|
CATATATA others(3): Show |
C | 1 | a0001c0001t0057 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*239_*248delATATAT others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 239 | INFO_REALIGN_3_PRIME | chr22 | 39686627 | ||||
| chr22:39686629
|
T | TATATATA others(47): Show |
1 | a0002c0003t0025 | 1 | HG04204.hp1 | 3_prime_UTR_variant | MODIFIER | c.*249_*250insCATATA others(48): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 250 | INFO_REALIGN_3_PRIME | chr22 | 39686629 | ||||
| chr22:39686633
|
T | C | 1 | a0019c0040t0033 | 1 | HG00639.hp1 | 3_prime_UTR_variant | MODIFIER | c.*228T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 228 | chr22 | 39686633 | |||||
| chr22:39686652
|
A | ATGCATAT others(19): Show |
1 | a0002c0044t0026 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*249_*250insCATATA others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 250 | INFO_REALIGN_3_PRIME | chr22 | 39686652 | ||||
| chr22:39686652
|
A | G | 5 | a0001c0001t0048a0001c0014t0030a0001c0026t0056others(2): Show | 7 | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*247A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 247 | chr22 | 39686652 | |||||
| chr22:39686654
|
G | A | 1 | a0001c0001t0038 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*249G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 249 | chr22 | 39686654 | |||||
| chr22:39686819
|
C | A | 1 | a0001c0002t0045 | 1 | HG02155.hp1 | 3_prime_UTR_variant | MODIFIER | c.*414C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 414 | chr22 | 39686819 | |||||
| chr22:39686997
|
G | A | 1 | a0022c0037t0041 | 1 | HG00280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*592G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 592 | chr22 | 39686997 | |||||
| chr22:39687082
|
G | T | 1 | a0001c0001t0046 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*677G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 677 | chr22 | 39687082 | |||||
| chr22:39687506
|
C | T | 1 | a0001c0001t0039 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1101C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1101 | chr22 | 39687506 | |||||
| chr22:39687567
|
G | C | 1 | a0001c0001t0057 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1162G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1162 | chr22 | 39687567 | |||||
| chr22:39687646
|
C | T | 1 | a0002c0013t0029 | 1 | HG03041.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1241C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1241 | chr22 | 39687646 | |||||
| chr22:39687725
|
T | G | 22 | a0001c0001t0008a0001c0002t0014a0003c0005t0008others(19): Show | 27 | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*1320T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1320 | chr22 | 39687725 | |||||
| chr22:39687767
|
A | G | 1 | a0002c0003t0049 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1362A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1362 | chr22 | 39687767 | |||||
| chr22:39687789
|
C | G | 25 | a0001c0001t0005a0001c0001t0052a0001c0022t0010others(22): Show | 49 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(46): Show |
3_prime_UTR_variant | MODIFIER | c.*1384C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1384 | chr22 | 39687789 | |||||
| chr22:39687906
|
A | G | 1 | a0009c0016t0055 | 1 | HG03579.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1501A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1501 | chr22 | 39687906 | |||||
| chr22:39687986
|
A | AGGGGGGC others(8): Show |
2 | a0001c0026t0051a0001c0026t0056 | 2 | HG01109.hp2 HG01884.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1591_*1605dupGCCA others(11): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1606 | INFO_REALIGN_3_PRIME | chr22 | 39687986 | ||||
| chr22:39688028
|
T | G | 1 | a0004c0006t0042 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1623T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1623 | chr22 | 39688028 | |||||
| chr22:39688135
|
C | T | 1 | a0011c0029t0020 | 2 | HG02896.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1730C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 1730 | chr22 | 39688135 | |||||
| chr22:39688468
|
C | T | 3 | a0003c0008t0006a0005c0007t0006a0005c0007t0060 | 13 | HG01109.hp1 HG01496.hp2 HG02451.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*2063C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2063 | chr22 | 39688468 | |||||
| chr22:39688530
|
C | T | 2 | a0001c0001t0039a0003c0005t0054 | 2 | HG02976.hp2 HG03486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2125C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2125 | chr22 | 39688530 | |||||
| chr22:39688669
|
C | T | 2 | a0004c0006t0037a0004c0006t0042 | 2 | HG01169.hp2 HG02683.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2264C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2264 | chr22 | 39688669 | |||||
| chr22:39688875
|
C | T | 1 | a0001c0001t0039 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2470C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2470 | chr22 | 39688875 | |||||
| chr22:39688939
|
G | A | 1 | a0012c0021t0022 | 2 | HG02615.hp1 HG02818.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2534G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2534 | chr22 | 39688939 | |||||
| chr22:39688994
|
C | A | 1 | a0024c0035t0044 | 1 | HG01099.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2589C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2589 | chr22 | 39688994 | |||||
| chr22:39689280
|
C | G | 4 | a0002c0003t0013a0002c0003t0027a0002c0032t0013others(1): Show | 4 | HG01192.hp2 HG02738.hp1 HG03491.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2875C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2875 | chr22 | 39689280 | |||||
| chr22:39689365
|
G | T | 1 | a0003c0005t0053 | 1 | HG02145.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2960G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 2960 | chr22 | 39689365 | |||||
| chr22:39689560
|
C | T | 1 | a0004c0004t0043 | 1 | HG01361.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3155C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 3155 | chr22 | 39689560 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:39571077
|
G | A | 1 | a0002c0003t0012g0002 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.236+89G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571077 | ||||||
| chr22:39571406
|
G | GGCAGGA | 58 | a0001c0002t0002g0179a0001c0002t0002g0189a0001c0002t0002g0192others(55): Show | 58 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(55): Show |
intron_variant | MODIFIER | c.236+419_236+424dup others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39571406 | |||||
| chr22:39571416
|
A | G | 58 | a0001c0002t0002g0179a0001c0002t0002g0189a0001c0002t0002g0192others(55): Show | 58 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(55): Show |
intron_variant | MODIFIER | c.236+428A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571416 | ||||||
| chr22:39571423
|
T | C | 1 | a0004c0004t0018g0003 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.236+435T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571423 | ||||||
| chr22:39571425
|
A | G | 141 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(138): Show | 141 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.236+437A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571425 | ||||||
| chr22:39571608
|
TC | T | 21 | a0001c0001t0036g0086a0001c0001t0052g0075a0001c0027t0015g0092others(18): Show | 21 | HG00639.hp1 HG01109.hp1 HG01496.hp2 others(18): Show |
intron_variant | MODIFIER | c.236+626delC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39571608 | |||||
| chr22:39571716
|
A | T | 3 | a0001c0026t0056g0071a0002c0003t0001g0073a0012c0021t0022g0072 | 3 | HG01109.hp2 HG02145.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.236+728A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571716 | ||||||
| chr22:39571737
|
C | T | 1 | a0004c0004t0058g0070 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.236+749C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571737 | ||||||
| chr22:39571780
|
C | G | 124 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(121): Show | 124 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.236+792C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571780 | ||||||
| chr22:39571791
|
A | T | 5 | a0001c0001t0003g0173a0001c0020t0001g0176a0003c0008t0005g0177others(2): Show | 5 | HG00639.hp2 HG01175.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.236+803A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571791 | ||||||
| chr22:39571875
|
C | T | 13 | a0001c0001t0002g0060a0001c0001t0004g0065a0001c0001t0011g0063others(10): Show | 13 | HG00741.hp1 HG01081.hp2 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.236+887C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571875 | ||||||
| chr22:39571930
|
AT | A | 4 | a0001c0002t0002g0179a0001c0002t0003g0180a0004c0006t0018g0178others(1): Show | 4 | HG00323.hp2 HG01169.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+943delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39571930 | ||||||
| chr22:39572013
|
C | T | 59 | a0001c0002t0002g0179a0001c0002t0002g0189a0001c0002t0002g0192others(56): Show | 59 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.236+1025C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572013 | ||||||
| chr22:39572014
|
G | A | 1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.236+1026G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572014 | ||||||
| chr22:39572135
|
G | T | 13 | a0001c0001t0002g0060a0001c0001t0004g0065a0001c0001t0011g0063others(10): Show | 13 | HG00741.hp1 HG01081.hp2 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.236+1147G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572135 | ||||||
| chr22:39572168
|
T | G | 163 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(160): Show | 163 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.236+1180T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572168 | ||||||
| chr22:39572228
|
G | T | 5 | a0005c0007t0006g0112a0009c0016t0005g0108a0009c0016t0015g0111others(2): Show | 5 | HG02965.hp1 HG02970.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.236+1240G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572228 | ||||||
| chr22:39572264
|
G | A | 13 | a0001c0001t0002g0060a0001c0001t0004g0065a0001c0001t0011g0063others(10): Show | 13 | HG00741.hp1 HG01081.hp2 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.236+1276G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39572264 | ||||||
| chr22:39573084
|
G | C | 1 | a0001c0023t0010g0113 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.236+2096G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573084 | ||||||
| chr22:39573146
|
G | A | 7 | a0005c0007t0006g0096a0005c0007t0006g0097a0005c0007t0006g0098others(4): Show | 7 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+2158G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573146 | ||||||
| chr22:39573188
|
G | C | 1 | a0004c0049t0040g0182 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.236+2200G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573188 | ||||||
| chr22:39573443
|
G | A | 2 | a0001c0002t0003g0183a0001c0002t0004g0184 | 2 | HG00408.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.236+2455G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573443 | ||||||
| chr22:39573467
|
G | A | 4 | a0001c0020t0001g0176a0003c0008t0005g0177a0003c0024t0005g0174others(1): Show | 4 | HG00639.hp2 HG01175.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+2479G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573467 | ||||||
| chr22:39573550
|
C | T | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.236+2562C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573550 | ||||||
| chr22:39573605
|
C | T | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.236+2617C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573605 | ||||||
| chr22:39573762
|
T | C | 164 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(161): Show | 164 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.236+2774T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573762 | ||||||
| chr22:39573808
|
G | A | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.236+2820G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573808 | ||||||
| chr22:39573890
|
C | T | 58 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(55): Show | 58 | HG00140.hp1 HG00280.hp2 HG00609.hp1 others(55): Show |
intron_variant | MODIFIER | c.236+2902C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573890 | ||||||
| chr22:39573953
|
G | A | 4 | a0001c0001t0002g0117a0001c0001t0003g0114a0001c0001t0003g0116others(1): Show | 4 | HG00544.hp1 NA18612.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.236+2965G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573953 | ||||||
| chr22:39573978
|
C | T | 1 | a0002c0003t0009g0054 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.236+2990C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39573978 | ||||||
| chr22:39574102
|
G | C | 21 | a0001c0001t0036g0086a0001c0001t0052g0075a0001c0027t0015g0092others(18): Show | 21 | HG00639.hp1 HG01109.hp1 HG01496.hp2 others(18): Show |
intron_variant | MODIFIER | c.236+3114G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574102 | ||||||
| chr22:39574172
|
G | T | 1 | a0008c0011t0004g0068 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.236+3184G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574172 | ||||||
| chr22:39574600
|
A | G | 5 | a0005c0007t0006g0112a0009c0016t0005g0108a0009c0016t0015g0111others(2): Show | 5 | HG02965.hp1 HG02970.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.236+3612A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574600 | ||||||
| chr22:39574629
|
C | T | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.236+3641C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574629 | ||||||
| chr22:39574663
|
A | T | 12 | a0005c0007t0006g0096a0005c0007t0006g0097a0005c0007t0006g0098others(9): Show | 12 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.236+3675A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574663 | ||||||
| chr22:39574664
|
ATAGTAG | A | 12 | a0005c0007t0006g0096a0005c0007t0006g0097a0005c0007t0006g0098others(9): Show | 12 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.236+3681_236+3686d others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39574664 | |||||
| chr22:39574826
|
C | T | 4 | a0001c0026t0051g0169a0003c0005t0005g0170a0003c0005t0005g0172others(1): Show | 4 | HG01884.hp1 HG02630.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+3838C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574826 | ||||||
| chr22:39574957
|
C | T | 1 | a0001c0002t0002g0235 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.236+3969C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574957 | ||||||
| chr22:39574963
|
G | A | 1 | a0001c0046t0003g0185 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.236+3975G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39574963 | ||||||
| chr22:39575204
|
G | A | 4 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105others(1): Show | 4 | HG02055.hp1 HG02257.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.236+4216G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575204 | ||||||
| chr22:39575220
|
A | C | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.236+4232A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575220 | ||||||
| chr22:39575229
|
A | G | 6 | a0001c0001t0004g0107a0001c0009t0003g0103a0001c0009t0007g0104others(3): Show | 6 | HG02055.hp1 HG02257.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.236+4241A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575229 | ||||||
| chr22:39575406
|
G | T | 1 | a0001c0002t0002g0234 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.236+4418G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575406 | ||||||
| chr22:39575449
|
C | T | 2 | a0007c0010t0001g0053a0010c0028t0013g0052 | 2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.236+4461C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575449 | ||||||
| chr22:39575632
|
GC | G | 165 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(162): Show | 165 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.236+4650delC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39575632 | |||||
| chr22:39575669
|
C | T | 4 | a0001c0001t0003g0165a0001c0001t0047g0168a0022c0037t0041g0166others(1): Show | 4 | HG00280.hp2 HG01099.hp2 HG02083.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+4681C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575669 | ||||||
| chr22:39575766
|
C | T | 1 | a0002c0013t0029g0164 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.236+4778C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575766 | ||||||
| chr22:39575780
|
A | AT | 8 | a0001c0001t0005g0050a0001c0014t0001g0045a0002c0003t0001g0046others(5): Show | 8 | HG02280.hp1 HG02572.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.236+4804dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39575780 | |||||
| chr22:39575780
|
AT | A | 58 | a0001c0002t0002g0179a0001c0002t0002g0189a0001c0002t0002g0192others(55): Show | 58 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(55): Show |
intron_variant | MODIFIER | c.236+4804delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39575780 | |||||
| chr22:39575910
|
A | G | 1 | a0001c0002t0004g0233 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.236+4922A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39575910 | ||||||
| chr22:39576064
|
T | C | 91 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0173others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.236+5076T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576064 | ||||||
| chr22:39576065
|
G | A | 1 | a0001c0002t0003g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.236+5077G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576065 | ||||||
| chr22:39576070
|
T | C | 187 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(184): Show | 187 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.236+5082T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576070 | ||||||
| chr22:39576131
|
G | A | 2 | a0001c0001t0004g0107a0002c0003t0001g0106 | 2 | HG02922.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.236+5143G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576131 | ||||||
| chr22:39576157
|
T | C | 167 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(164): Show | 167 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.236+5169T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576157 | ||||||
| chr22:39576321
|
G | A | 2 | a0001c0001t0005g0125a0003c0008t0006g0124 | 2 | HG01243.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.236+5333G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576321 | ||||||
| chr22:39576419
|
C | T | 1 | a0002c0003t0001g0073 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.236+5431C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576419 | ||||||
| chr22:39576605
|
T | C | 8 | a0003c0024t0005g0174a0005c0007t0006g0096a0005c0007t0006g0097others(5): Show | 8 | HG00639.hp2 HG02451.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.236+5617T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576605 | ||||||
| chr22:39576671
|
C | G | 7 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105others(4): Show | 7 | HG01496.hp2 HG02055.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.236+5683C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576671 | ||||||
| chr22:39576710
|
C | T | 1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.236+5722C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576710 | ||||||
| chr22:39576716
|
C | T | 1 | a0017c0036t0001g0043 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.236+5728C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576716 | ||||||
| chr22:39576717
|
G | A | 3 | a0001c0001t0005g0118a0001c0001t0005g0119a0006c0012t0005g0120 | 3 | HG02109.hp2 HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.236+5729G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576717 | ||||||
| chr22:39576944
|
GCTT | G | 16 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0122others(13): Show | 16 | HG00140.hp1 HG00323.hp2 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.236+5972_236+5974d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39576944 | |||||
| chr22:39576947
|
T | G | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.236+5959T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576947 | ||||||
| chr22:39576964
|
T | C | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.236+5976T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576964 | ||||||
| chr22:39576971
|
A | G | 8 | a0001c0001t0052g0075a0001c0027t0015g0092a0002c0025t0001g0090others(5): Show | 8 | HG02559.hp2 HG02818.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.236+5983A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39576971 | ||||||
| chr22:39577108
|
C | A | 18 | a0001c0001t0002g0060a0001c0001t0004g0065a0001c0001t0011g0063others(15): Show | 18 | HG00741.hp1 HG01081.hp2 HG01169.hp1 others(15): Show |
intron_variant | MODIFIER | c.236+6120C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577108 | ||||||
| chr22:39577140
|
C | T | 7 | a0001c0022t0010g0004a0001c0034t0028g0102a0005c0007t0006g0112others(4): Show | 7 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+6152C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577140 | ||||||
| chr22:39577146
|
T | C | 53 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0122others(50): Show | 53 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(50): Show |
intron_variant | MODIFIER | c.236+6158T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577146 | ||||||
| chr22:39577195
|
G | A | 6 | a0002c0031t0003g0080a0002c0031t0003g0081a0003c0008t0006g0084others(3): Show | 6 | HG01109.hp1 HG02818.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.236+6207G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577195 | ||||||
| chr22:39577228
|
G | A | 7 | a0005c0007t0006g0096a0005c0007t0006g0097a0005c0007t0006g0098others(4): Show | 7 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+6240G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577228 | ||||||
| chr22:39577239
|
T | G | 2 | a0001c0001t0003g0173a0001c0002t0004g0187 | 2 | NA19012.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.236+6251T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577239 | ||||||
| chr22:39577327
|
C | T | 2 | a0003c0008t0006g0093a0003c0008t0006g0094 | 2 | HG01496.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.236+6339C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577327 | ||||||
| chr22:39577468
|
C | T | 8 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(5): Show | 8 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.236+6480C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577468 | ||||||
| chr22:39577489
|
G | A | 1 | a0002c0003t0049g0010 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.236+6501G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577489 | ||||||
| chr22:39577521
|
G | A | 175 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(172): Show | 175 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(172): Show |
intron_variant | MODIFIER | c.236+6533G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577521 | ||||||
| chr22:39577608
|
G | A | 8 | a0001c0034t0028g0102a0003c0008t0006g0093a0003c0008t0006g0094others(5): Show | 8 | HG01496.hp2 HG02257.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.236+6620G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577608 | ||||||
| chr22:39577647
|
C | T | 4 | a0001c0001t0003g0165a0001c0001t0047g0168a0022c0037t0041g0166others(1): Show | 4 | HG00280.hp2 HG01099.hp2 HG02083.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+6659C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577647 | ||||||
| chr22:39577670
|
C | T | 17 | a0001c0001t0002g0117a0001c0001t0002g0145a0001c0001t0002g0147others(14): Show | 17 | HG00544.hp1 HG00609.hp1 HG01496.hp2 others(14): Show |
intron_variant | MODIFIER | c.236+6682C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577670 | ||||||
| chr22:39577672
|
G | A | 2 | a0001c0002t0002g0192a0001c0002t0002g0193 | 2 | NA18947.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.236+6684G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577672 | ||||||
| chr22:39577927
|
G | A | 1 | a0001c0051t0001g0194 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.236+6939G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577927 | ||||||
| chr22:39577981
|
G | T | 2 | a0002c0019t0001g0036a0010c0041t0001g0037 | 2 | HG01261.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.236+6993G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39577981 | ||||||
| chr22:39578010
|
GCAGCTGT others(5): Show |
G | 154 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
intron_variant | MODIFIER | c.236+7025_236+7036d others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39578010 | |||||
| chr22:39578077
|
G | A | 8 | a0001c0034t0028g0102a0003c0008t0006g0093a0003c0008t0006g0094others(5): Show | 8 | HG01496.hp2 HG02257.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.236+7089G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578077 | ||||||
| chr22:39578183
|
C | A | 13 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(10): Show | 13 | HG01169.hp2 HG01515.hp1 HG02818.hp1 others(10): Show |
intron_variant | MODIFIER | c.236+7195C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578183 | ||||||
| chr22:39578266
|
C | T | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.236+7278C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578266 | ||||||
| chr22:39578281
|
C | T | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.236+7293C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578281 | ||||||
| chr22:39578315
|
C | A | 1 | a0004c0004t0034g0011 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.236+7327C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578315 | ||||||
| chr22:39578585
|
T | C | 81 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(78): Show | 81 | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(78): Show |
intron_variant | MODIFIER | c.236+7597T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578585 | ||||||
| chr22:39578651
|
G | A | 1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.236+7663G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578651 | ||||||
| chr22:39578656
|
G | A | 1 | a0001c0002t0007g0203 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.236+7668G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578656 | ||||||
| chr22:39578728
|
C | T | 1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.236+7740C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578728 | ||||||
| chr22:39578745
|
G | A | 5 | a0001c0001t0052g0075a0001c0027t0015g0092a0002c0025t0001g0090others(2): Show | 5 | HG02559.hp2 HG02922.hp1 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.236+7757G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578745 | ||||||
| chr22:39578801
|
A | G | 5 | a0001c0001t0052g0075a0001c0027t0015g0092a0002c0025t0001g0090others(2): Show | 5 | HG02559.hp2 HG02922.hp1 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.236+7813A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578801 | ||||||
| chr22:39578803
|
T | C | 9 | a0001c0001t0007g0038a0002c0003t0009g0012a0002c0003t0009g0014others(6): Show | 9 | HG00140.hp2 HG01071.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.236+7815T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578803 | ||||||
| chr22:39578810
|
G | A | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.236+7822G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39578810 | ||||||
| chr22:39579012
|
GCCT | G | 13 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(10): Show | 13 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.236+8029_236+8031d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39579012 | |||||
| chr22:39579039
|
C | T | 1 | a0001c0001t0039g0121 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.236+8051C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579039 | ||||||
| chr22:39579119
|
G | A | 1 | a0002c0019t0001g0036 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.236+8131G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579119 | ||||||
| chr22:39579302
|
G | A | 79 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(76): Show | 79 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.236+8314G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579302 | ||||||
| chr22:39579410
|
C | T | 2 | a0004c0006t0018g0178a0004c0006t0042g0181 | 2 | HG01169.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.236+8422C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579410 | ||||||
| chr22:39579635
|
G | C | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+8647G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579635 | ||||||
| chr22:39579648
|
C | CT | 9 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0002t0002g0230others(6): Show | 9 | HG01106.hp2 HG01255.hp2 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.236+8675dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39579648 | |||||
| chr22:39579648
|
CT | C | 123 | a0001c0001t0002g0145a0001c0001t0003g0023a0001c0001t0004g0065others(120): Show | 123 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.236+8675delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39579648 | |||||
| chr22:39579686
|
A | G | 91 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(88): Show | 91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.236+8698A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579686 | ||||||
| chr22:39579708
|
G | A | 10 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(7): Show | 10 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.236+8720G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579708 | ||||||
| chr22:39579749
|
C | T | 2 | a0002c0003t0001g0033a0002c0003t0001g0034 | 2 | HG01081.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.236+8761C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579749 | ||||||
| chr22:39579887
|
G | A | 1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.236+8899G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579887 | ||||||
| chr22:39579909
|
A | G | 84 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(81): Show | 84 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.236+8921A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39579909 | ||||||
| chr22:39580123
|
C | A | 81 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(78): Show |
intron_variant | MODIFIER | c.236+9135C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580123 | ||||||
| chr22:39580128
|
A | C | 87 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(84): Show | 87 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.236+9140A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580128 | ||||||
| chr22:39580181
|
C | T | 83 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(80): Show | 83 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.236+9193C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580181 | ||||||
| chr22:39580348
|
G | A | 1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.236+9360G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580348 | ||||||
| chr22:39580357
|
C | T | 1 | a0001c0002t0002g0230 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.236+9369C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580357 | ||||||
| chr22:39580397
|
A | C | 1 | a0001c0001t0002g0117 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.236+9409A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580397 | ||||||
| chr22:39580419
|
C | G | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.236+9431C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580419 | ||||||
| chr22:39580638
|
G | A | 1 | a0001c0001t0003g0151 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.236+9650G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580638 | ||||||
| chr22:39580731
|
G | T | 1 | a0001c0001t0009g0134 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.236+9743G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580731 | ||||||
| chr22:39580891
|
C | T | 2 | a0011c0029t0020g0082a0011c0029t0020g0083 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.236+9903C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580891 | ||||||
| chr22:39580925
|
T | G | 7 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(4): Show | 7 | HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+9937T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580925 | ||||||
| chr22:39580938
|
A | G | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.236+9950A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39580938 | ||||||
| chr22:39581043
|
GA | G | 17 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(14): Show | 17 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.236+10057delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39581043 | |||||
| chr22:39581206
|
C | T | 83 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(80): Show | 83 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.236+10218C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39581206 | ||||||
| chr22:39581667
|
G | A | 1 | a0001c0014t0030g0129 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.236+10679G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39581667 | ||||||
| chr22:39582034
|
T | G | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.236+11046T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39582034 | ||||||
| chr22:39582532
|
T | A | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+11544T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39582532 | ||||||
| chr22:39582557
|
G | A | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.236+11569G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39582557 | ||||||
| chr22:39582873
|
T | TATCC | 5 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105others(2): Show | 5 | HG01934.hp2 HG02055.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.236+11900_236+1190 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39582873 | |||||
| chr22:39582961
|
C | CATCT | 91 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(88): Show | 91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.236+11974_236+1197 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39582961 | |||||
| chr22:39583031
|
A | ACCAT | 34 | a0001c0001t0002g0123a0001c0001t0002g0145a0001c0001t0002g0147others(31): Show | 34 | HG00544.hp2 HG00609.hp1 HG01106.hp2 others(31): Show |
intron_variant | MODIFIER | c.236+12091_236+1209 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583031
|
ACCAT | A | 49 | a0001c0001t0004g0107a0001c0001t0005g0007a0001c0001t0052g0075others(46): Show | 49 | HG01169.hp2 HG01243.hp2 HG01346.hp1 others(46): Show |
intron_variant | MODIFIER | c.236+12091_236+1209 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583031
|
ACCATCCA others(1): Show |
A | 50 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(47): Show | 50 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(47): Show |
intron_variant | MODIFIER | c.236+12087_236+1209 others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583031
|
ACCATCCA others(5): Show |
A | 2 | a0002c0003t0001g0106a0019c0040t0033g0076 | 2 | HG00639.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.236+12083_236+1209 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583031
|
ACCATCCA others(9): Show |
A | 1 | a0007c0010t0001g0018 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.236+12079_236+1209 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583031
|
ACCATCCA others(13): Show |
A | 2 | a0002c0003t0013g0017a0007c0010t0001g0016 | 2 | HG02738.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.236+12075_236+1209 others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583031 | |||||
| chr22:39583035
|
T | A | 1 | a0010c0028t0013g0052 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.236+12047T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583035 | ||||||
| chr22:39583035
|
T | TCCATCCA others(77): Show |
1 | a0004c0006t0018g0178 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.236+12077_236+1207 others(88): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583035 | |||||
| chr22:39583134
|
C | CTCCATCC others(5): Show |
190 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
intron_variant | MODIFIER | c.236+12151_236+1216 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583134 | |||||
| chr22:39583139
|
T | TCCATCCA others(5): Show |
7 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(4): Show | 7 | HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+12160_236+1217 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583139 | |||||
| chr22:39583197
|
A | AATCC | 84 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(81): Show | 84 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.236+12227_236+1223 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583197 | |||||
| chr22:39583197
|
AATCC | A | 7 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(4): Show | 7 | HG01169.hp2 HG01515.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+12227_236+1223 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583197 | |||||
| chr22:39583221
|
A | AATCC | 48 | a0001c0001t0003g0041a0001c0001t0003g0152a0001c0001t0021g0039others(45): Show | 48 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(45): Show |
intron_variant | MODIFIER | c.236+12252_236+1225 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583221 | |||||
| chr22:39583329
|
C | G | 1 | a0004c0049t0040g0182 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.236+12341C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583329 | ||||||
| chr22:39583365
|
T | TATCC | 7 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(4): Show | 7 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+12408_236+1241 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583365 | |||||
| chr22:39583365
|
TATCC | T | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.236+12408_236+1241 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583365 | |||||
| chr22:39583365
|
TATCCATC others(1): Show |
T | 197 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.236+12404_236+1241 others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39583365 | |||||
| chr22:39583383
|
T | G | 7 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(4): Show | 7 | HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.236+12395T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583383 | ||||||
| chr22:39583506
|
G | A | 208 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(205): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.236+12518G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583506 | ||||||
| chr22:39583652
|
C | A | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+12664C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583652 | ||||||
| chr22:39583841
|
T | A | 2 | a0001c0018t0002g0157a0001c0018t0002g0158 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.236+12853T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583841 | ||||||
| chr22:39583946
|
G | T | 6 | a0001c0001t0005g0050a0002c0003t0001g0046a0002c0003t0001g0048others(3): Show | 6 | HG02280.hp1 HG02809.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.236+12958G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39583946 | ||||||
| chr22:39584229
|
T | C | 2 | a0014c0033t0002g0078a0020c0042t0005g0077 | 2 | HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.236+13241T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584229 | ||||||
| chr22:39584417
|
G | T | 1 | a0001c0001t0003g0165 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.236+13429G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584417 | ||||||
| chr22:39584503
|
A | G | 3 | a0001c0001t0003g0041a0001c0001t0021g0039a0001c0001t0021g0040 | 3 | HG03491.hp1 HG03492.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.236+13515A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584503 | ||||||
| chr22:39584640
|
C | T | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-13511C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584640 | ||||||
| chr22:39584887
|
T | A | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-13264T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584887 | ||||||
| chr22:39584970
|
T | G | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-13181T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39584970 | ||||||
| chr22:39585071
|
C | T | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-13080C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585071 | ||||||
| chr22:39585113
|
G | A | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.237-13038G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585113 | ||||||
| chr22:39585255
|
G | T | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.237-12896G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585255 | ||||||
| chr22:39585295
|
T | C | 1 | a0002c0003t0001g0156 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.237-12856T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585295 | ||||||
| chr22:39585366
|
T | TTTTC | 10 | a0001c0002t0002g0230a0001c0002t0002g0235a0001c0002t0003g0228others(7): Show | 10 | HG01106.hp2 HG01255.hp2 HG01515.hp2 others(7): Show |
intron_variant | MODIFIER | c.237-12765_237-1276 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585366 | |||||
| chr22:39585366
|
TTTTC | T | 6 | a0001c0009t0007g0135a0001c0026t0051g0169a0001c0027t0015g0136others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.237-12765_237-1276 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585366 | |||||
| chr22:39585386
|
CT | C | 84 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(81): Show | 84 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(81): Show |
intron_variant | MODIFIER | c.237-12744delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585386 | |||||
| chr22:39585386
|
CTT | C | 24 | a0001c0001t0004g0107a0001c0001t0039g0121a0001c0001t0052g0075others(21): Show | 24 | HG01169.hp2 HG02257.hp1 HG02559.hp2 others(21): Show |
intron_variant | MODIFIER | c.237-12745_237-1274 others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585386 | |||||
| chr22:39585387
|
T | TTTC | 77 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(74): Show | 77 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.237-12762_237-1276 others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585387 | |||||
| chr22:39585391
|
T | C | 2 | a0002c0003t0027g0019a0002c0003t0049g0010 | 2 | HG01192.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.237-12760T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585391 | ||||||
| chr22:39585525
|
G | A | 1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.237-12626G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585525 | ||||||
| chr22:39585576
|
T | C | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-12575T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585576 | ||||||
| chr22:39585587
|
C | T | 2 | a0001c0001t0057g0067a0003c0005t0054g0066 | 2 | HG03486.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.237-12564C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585587 | ||||||
| chr22:39585699
|
T | TA | 33 | a0001c0001t0002g0060a0001c0001t0005g0118a0001c0001t0005g0119others(30): Show | 33 | HG00741.hp1 HG00741.hp2 HG01106.hp2 others(30): Show |
intron_variant | MODIFIER | c.237-12433dupA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585699 | |||||
| chr22:39585699
|
TA | T | 13 | a0001c0002t0004g0187a0001c0002t0004g0233a0001c0034t0028g0102others(10): Show | 13 | HG01109.hp1 HG01169.hp1 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.237-12433delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585699 | |||||
| chr22:39585699
|
TAAA | T | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-12435_237-1243 others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585699 | |||||
| chr22:39585711
|
A | C | 2 | a0002c0003t0009g0015a0002c0003t0009g0054 | 2 | HG00140.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.237-12440A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585711 | ||||||
| chr22:39585727
|
G | GT | 70 | a0001c0001t0003g0114a0001c0001t0003g0122a0001c0001t0003g0160others(67): Show | 70 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.237-12404dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585727 | |||||
| chr22:39585727
|
G | GTT | 85 | a0001c0001t0002g0123a0001c0001t0003g0023a0001c0001t0003g0041others(82): Show | 85 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(82): Show |
intron_variant | MODIFIER | c.237-12405_237-1240 others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585727 | |||||
| chr22:39585727
|
G | GTTT | 44 | a0001c0001t0002g0162a0001c0001t0004g0065a0001c0001t0005g0050others(41): Show | 44 | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(41): Show |
intron_variant | MODIFIER | c.237-12406_237-1240 others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39585727 | |||||
| chr22:39585808
|
C | G | 45 | a0001c0001t0003g0041a0001c0001t0003g0152a0001c0001t0021g0039others(42): Show | 45 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(42): Show |
intron_variant | MODIFIER | c.237-12343C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39585808 | ||||||
| chr22:39586007
|
G | A | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.237-12144G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586007 | ||||||
| chr22:39586196
|
A | G | 1 | a0005c0007t0006g0101 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.237-11955A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586196 | ||||||
| chr22:39586209
|
G | T | 4 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0008t0006g0084others(1): Show | 4 | HG01109.hp1 HG02818.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-11942G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586209 | ||||||
| chr22:39586362
|
C | T | 3 | a0001c0009t0002g0009a0014c0033t0002g0078a0020c0042t0005g0077 | 3 | HG02486.hp1 HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.237-11789C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586362 | ||||||
| chr22:39586493
|
A | AAAAT | 22 | a0001c0001t0004g0065a0001c0001t0036g0086a0001c0009t0007g0135others(19): Show | 22 | HG01099.hp1 HG01243.hp2 HG01358.hp2 others(19): Show |
intron_variant | MODIFIER | c.237-11630_237-1162 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39586493 | |||||
| chr22:39586493
|
A | AAAATAAA others(1): Show |
10 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(7): Show | 10 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.237-11634_237-1162 others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39586493 | |||||
| chr22:39586493
|
A | AAAATAAA others(9): Show |
5 | a0001c0001t0005g0125a0001c0001t0008g0008a0001c0001t0008g0139others(2): Show | 5 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.237-11642_237-1162 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39586493 | |||||
| chr22:39586493
|
A | AAAATAAA others(13): Show |
5 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0008g0131others(2): Show | 5 | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.237-11646_237-1162 others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39586493 | |||||
| chr22:39586572
|
C | T | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-11579C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586572 | ||||||
| chr22:39586584
|
G | A | 1 | a0001c0009t0003g0103 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.237-11567G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586584 | ||||||
| chr22:39586716
|
A | G | 102 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(99): Show | 102 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(99): Show |
intron_variant | MODIFIER | c.237-11435A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586716 | ||||||
| chr22:39586751
|
G | A | 4 | a0004c0004t0018g0003a0004c0004t0019g0021a0004c0004t0019g0022others(1): Show | 4 | HG00642.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-11400G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39586751 | ||||||
| chr22:39587711
|
G | A | 1 | a0001c0001t0003g0023 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.237-10440G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39587711 | ||||||
| chr22:39587773
|
T | G | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.237-10378T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39587773 | ||||||
| chr22:39587939
|
A | C | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-10212A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39587939 | ||||||
| chr22:39587991
|
G | A | 9 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-10160G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39587991 | ||||||
| chr22:39588081
|
A | T | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-10070A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588081 | ||||||
| chr22:39588128
|
A | AT | 20 | a0001c0001t0002g0060a0001c0001t0050g0153a0001c0002t0003g0186others(17): Show | 20 | HG00741.hp1 HG01109.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.237-10001dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588128 | |||||
| chr22:39588128
|
A | ATT | 53 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(50): Show | 53 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.237-10002_237-1000 others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588128 | |||||
| chr22:39588128
|
A | ATTT | 19 | a0001c0001t0052g0075a0001c0002t0004g0232a0001c0002t0031g0200others(16): Show | 19 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(16): Show |
intron_variant | MODIFIER | c.237-10003_237-1000 others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588128 | |||||
| chr22:39588128
|
AT | A | 24 | a0001c0001t0002g0145a0001c0001t0005g0118a0001c0001t0005g0119others(21): Show | 24 | HG01109.hp1 HG01243.hp1 HG01243.hp2 others(21): Show |
intron_variant | MODIFIER | c.237-10001delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588128 | |||||
| chr22:39588365
|
TTTTCTTT others(1): Show |
T | 86 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(83): Show | 86 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.237-9770_237-9763d others(10): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588365 | |||||
| chr22:39588377
|
CTTTCTTT others(4): Show |
C | 1 | a0003c0005t0005g0055 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.237-9770_237-9760d others(13): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588377 | |||||
| chr22:39588385
|
C | CT | 19 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(16): Show | 19 | HG00544.hp1 HG01109.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.237-9748dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588385 | |||||
| chr22:39588385
|
C | CTT | 8 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(5): Show | 8 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.237-9749_237-9748d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39588385 | |||||
| chr22:39588389
|
T | C | 8 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0003t0027g0019others(5): Show | 8 | HG01169.hp2 HG01192.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-9762T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588389 | ||||||
| chr22:39588446
|
C | A | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.237-9705C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588446 | ||||||
| chr22:39588447
|
G | A | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.237-9704G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588447 | ||||||
| chr22:39588588
|
C | T | 1 | a0010c0041t0001g0037 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.237-9563C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588588 | ||||||
| chr22:39588627
|
C | T | 1 | a0001c0001t0048g0128 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.237-9524C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588627 | ||||||
| chr22:39588766
|
G | A | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.237-9385G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588766 | ||||||
| chr22:39588831
|
G | T | 7 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(4): Show | 7 | HG01169.hp2 HG01515.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-9320G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588831 | ||||||
| chr22:39588868
|
C | T | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-9283C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588868 | ||||||
| chr22:39588941
|
T | C | 102 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(99): Show | 102 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(99): Show |
intron_variant | MODIFIER | c.237-9210T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39588941 | ||||||
| chr22:39589278
|
G | A | 92 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(89): Show | 92 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.237-8873G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39589278 | ||||||
| chr22:39589326
|
G | A | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.237-8825G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39589326 | ||||||
| chr22:39589585
|
A | G | 185 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(182): Show | 185 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(182): Show |
intron_variant | MODIFIER | c.237-8566A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39589585 | ||||||
| chr22:39589772
|
C | T | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.237-8379C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39589772 | ||||||
| chr22:39589950
|
G | C | 1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.237-8201G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39589950 | ||||||
| chr22:39590075
|
G | A | 1 | a0012c0021t0022g0072 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.237-8076G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590075 | ||||||
| chr22:39590116
|
G | A | 1 | a0001c0001t0009g0134 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.237-8035G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590116 | ||||||
| chr22:39590160
|
T | A | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-7991T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590160 | ||||||
| chr22:39590297
|
T | C | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.237-7854T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590297 | ||||||
| chr22:39590670
|
T | C | 8 | a0003c0005t0008g0044a0005c0007t0006g0096a0005c0007t0006g0097others(5): Show | 8 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-7481T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590670 | ||||||
| chr22:39590709
|
T | A | 1 | a0004c0006t0016g0191 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.237-7442T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590709 | ||||||
| chr22:39590722
|
T | C | 14 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(11): Show | 14 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.237-7429T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590722 | ||||||
| chr22:39590737
|
C | T | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.237-7414C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590737 | ||||||
| chr22:39590772
|
C | A | 1 | a0004c0006t0016g0191 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.237-7379C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39590772 | ||||||
| chr22:39591017
|
A | AT | 9 | a0001c0001t0057g0067a0001c0034t0028g0102a0003c0005t0054g0066others(6): Show | 9 | HG02257.hp1 HG02615.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-7134_237-7133i others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591017 | ||||||
| chr22:39591018
|
A | AT | 11 | a0001c0009t0003g0103a0001c0009t0007g0135a0001c0022t0010g0004others(8): Show | 11 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.237-7118dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39591018 | |||||
| chr22:39591018
|
A | ATT | 7 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(4): Show | 7 | HG01109.hp1 HG02818.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-7119_237-7118d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39591018 | |||||
| chr22:39591018
|
A | T | 113 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(110): Show | 113 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(110): Show |
intron_variant | MODIFIER | c.237-7133A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591018 | ||||||
| chr22:39591019
|
T | A | 3 | a0002c0003t0025g0028a0004c0004t0019g0021a0004c0004t0019g0022 | 3 | HG01516.hp1 HG01517.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.237-7132T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591019 | ||||||
| chr22:39591020
|
T | TC | 91 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(88): Show | 91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.237-7131_237-7130i others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591020 | ||||||
| chr22:39591042
|
GAGGTCTC others(12): Show |
G | 2 | a0001c0002t0002g0213a0001c0002t0003g0183 | 2 | HG00408.hp1 HG00408.hp2 |
intron_variant | MODIFIER | c.237-7105_237-7087d others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39591042 | |||||
| chr22:39591158
|
CT | C | 75 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(72): Show | 75 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(72): Show |
intron_variant | MODIFIER | c.237-6977delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39591158 | |||||
| chr22:39591381
|
T | C | 8 | a0001c0001t0057g0067a0001c0034t0028g0102a0003c0005t0054g0066others(5): Show | 8 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-6770T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591381 | ||||||
| chr22:39591382
|
G | A | 8 | a0001c0001t0057g0067a0001c0034t0028g0102a0003c0005t0054g0066others(5): Show | 8 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-6769G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591382 | ||||||
| chr22:39591451
|
G | A | 10 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(7): Show | 10 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.237-6700G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591451 | ||||||
| chr22:39591453
|
C | T | 8 | a0001c0001t0057g0067a0001c0034t0028g0102a0003c0005t0054g0066others(5): Show | 8 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-6698C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591453 | ||||||
| chr22:39591604
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(4): Show | 7 | HG01169.hp2 HG01515.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-6547G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591604 | ||||||
| chr22:39591605
|
C | T | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.237-6546C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591605 | ||||||
| chr22:39591622
|
A | C | 14 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(11): Show | 14 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.237-6529A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591622 | ||||||
| chr22:39591644
|
C | T | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-6507C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591644 | ||||||
| chr22:39591651
|
C | T | 9 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-6500C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591651 | ||||||
| chr22:39591680
|
T | C | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.237-6471T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591680 | ||||||
| chr22:39591759
|
T | A | 1 | a0004c0006t0016g0191 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.237-6392T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591759 | ||||||
| chr22:39591806
|
C | T | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.237-6345C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39591806 | ||||||
| chr22:39592170
|
C | T | 84 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(81): Show | 84 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(81): Show |
intron_variant | MODIFIER | c.237-5981C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592170 | ||||||
| chr22:39592173
|
C | A | 1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.237-5978C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592173 | ||||||
| chr22:39592258
|
C | T | 1 | a0004c0006t0023g0227 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.237-5893C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592258 | ||||||
| chr22:39592272
|
C | T | 211 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(208): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.237-5879C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592272 | ||||||
| chr22:39592445
|
C | T | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-5706C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592445 | ||||||
| chr22:39592494
|
A | G | 13 | a0001c0001t0005g0007a0001c0002t0004g0232a0001c0002t0031g0200others(10): Show | 13 | HG00639.hp1 HG02109.hp1 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.237-5657A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592494 | ||||||
| chr22:39592586
|
C | T | 8 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(5): Show | 8 | HG00733.hp2 HG01169.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-5565C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592586 | ||||||
| chr22:39592838
|
A | G | 4 | a0001c0002t0004g0187a0001c0050t0003g0201a0004c0006t0016g0191others(1): Show | 4 | HG01975.hp1 NA18969.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-5313A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39592838 | ||||||
| chr22:39593023
|
T | C | 2 | a0001c0001t0057g0067a0003c0005t0054g0066 | 2 | HG03486.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.237-5128T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593023 | ||||||
| chr22:39593076
|
G | C | 8 | a0001c0001t0004g0107a0001c0001t0039g0121a0002c0013t0001g0140others(5): Show | 8 | HG00733.hp2 HG01169.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-5075G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593076 | ||||||
| chr22:39593130
|
T | TG | 5 | a0001c0002t0017g0215a0002c0003t0001g0156a0004c0006t0014g0208others(2): Show | 5 | HG01261.hp2 HG02257.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-5020dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39593130 | |||||
| chr22:39593132
|
C | G | 206 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.237-5019C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593132 | ||||||
| chr22:39593155
|
G | A | 3 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148 | 3 | HG00609.hp1 NA18954.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.237-4996G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593155 | ||||||
| chr22:39593160
|
A | T | 1 | a0002c0044t0026g0155 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.237-4991A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593160 | ||||||
| chr22:39593211
|
A | G | 81 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(78): Show | 81 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(78): Show |
intron_variant | MODIFIER | c.237-4940A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593211 | ||||||
| chr22:39593228
|
C | T | 1 | a0001c0027t0015g0092 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.237-4923C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593228 | ||||||
| chr22:39593352
|
C | T | 1 | a0002c0044t0026g0155 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.237-4799C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593352 | ||||||
| chr22:39593431
|
G | A | 1 | a0003c0008t0005g0177 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.237-4720G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593431 | ||||||
| chr22:39593452
|
C | T | 5 | a0001c0002t0017g0215a0002c0003t0001g0156a0004c0006t0014g0208others(2): Show | 5 | HG01261.hp2 HG02257.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-4699C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593452 | ||||||
| chr22:39593705
|
G | A | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-4446G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39593705 | ||||||
| chr22:39594113
|
G | A | 1 | a0001c0002t0017g0215 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.237-4038G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39594113 | ||||||
| chr22:39594322
|
G | C | 9 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-3829G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39594322 | ||||||
| chr22:39594381
|
G | A | 1 | a0001c0002t0003g0180 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.237-3770G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39594381 | ||||||
| chr22:39594770
|
C | T | 39 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(36): Show | 39 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(36): Show |
intron_variant | MODIFIER | c.237-3381C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39594770 | ||||||
| chr22:39594827
|
C | A | 3 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105 | 3 | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.237-3324C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39594827 | ||||||
| chr22:39595011
|
C | T | 81 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(78): Show | 81 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(78): Show |
intron_variant | MODIFIER | c.237-3140C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595011 | ||||||
| chr22:39595065
|
G | A | 28 | a0001c0001t0003g0023a0002c0003t0001g0001a0002c0003t0001g0020others(25): Show | 28 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(25): Show |
intron_variant | MODIFIER | c.237-3086G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595065 | ||||||
| chr22:39595087
|
A | G | 81 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(78): Show | 81 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(78): Show |
intron_variant | MODIFIER | c.237-3064A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595087 | ||||||
| chr22:39595316
|
AAAAAT | A | 4 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0030t0004g0138others(1): Show | 4 | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-2820_237-2816d others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39595316 | |||||
| chr22:39595429
|
G | A | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.237-2722G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595429 | ||||||
| chr22:39595478
|
A | G | 1 | a0001c0002t0004g0187 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.237-2673A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595478 | ||||||
| chr22:39595491
|
G | A | 55 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(52): Show |
intron_variant | MODIFIER | c.237-2660G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595491 | ||||||
| chr22:39595494
|
A | G | 10 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0001t0005g0125others(7): Show | 10 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.237-2657A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595494 | ||||||
| chr22:39595625
|
CA | C | 200 | a0001c0001t0002g0123a0001c0001t0002g0148a0001c0001t0002g0162others(197): Show | 200 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(197): Show |
intron_variant | MODIFIER | c.237-2511delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39595625 | |||||
| chr22:39595625
|
CAA | C | 7 | a0001c0001t0008g0008a0002c0003t0001g0048a0002c0003t0001g0159others(4): Show | 7 | HG00099.hp2 HG02615.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-2512_237-2511d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39595625 | |||||
| chr22:39595687
|
G | T | 1 | a0010c0028t0004g0035 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.237-2464G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595687 | ||||||
| chr22:39595792
|
A | G | 11 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(8): Show | 11 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.237-2359A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595792 | ||||||
| chr22:39595829
|
C | G | 1 | a0001c0001t0005g0007 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.237-2322C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39595829 | ||||||
| chr22:39595926
|
CAGGGCGT others(4): Show |
C | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-2216_237-2206d others(13): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39595926 | |||||
| chr22:39596170
|
G | GGGGGGCA others(282): Show |
2 | a0001c0001t0003g0160a0001c0001t0048g0128 | 2 | HG03704.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.237-1954_237-1953i others(291): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596170 | |||||
| chr22:39596170
|
G | GGGGGGCA others(283): Show |
1 | a0001c0046t0003g0185 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.237-1954_237-1953i others(292): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596170 | |||||
| chr22:39596170
|
G | GGGGGGCA others(237): Show |
9 | a0001c0001t0002g0162a0001c0001t0038g0161a0001c0002t0002g0179others(6): Show | 9 | HG00733.hp1 HG01071.hp2 HG01106.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-1954_237-1953i others(246): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596170 | |||||
| chr22:39596170
|
G | GGGGGGCA others(238): Show |
7 | a0001c0002t0002g0230a0001c0002t0002g0234a0001c0002t0002g0235others(4): Show | 7 | HG00609.hp2 HG01106.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(247): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596170 | |||||
| chr22:39596170
|
G | GGGGGGCA others(240): Show |
1 | a0004c0006t0023g0227 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(249): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596170 | |||||
| chr22:39596191
|
TG | T | 19 | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0122others(16): Show | 19 | HG00323.hp2 HG01099.hp2 HG01515.hp2 others(16): Show |
intron_variant | MODIFIER | c.237-1953delG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596191 | |||||
| chr22:39596192
|
G | GGGGGGCA others(193): Show |
1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.237-1954_237-1953i others(202): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596192 | |||||
| chr22:39596197
|
G | A | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.237-1954G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596197 | ||||||
| chr22:39596201
|
GGGCGGAG others(6): Show |
G | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.237-1934_237-1922d others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596201 | |||||
| chr22:39596214
|
T | TGGGCAG | 4 | a0001c0027t0015g0136a0003c0005t0005g0170a0003c0005t0005g0172others(1): Show | 4 | HG01891.hp2 HG02630.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGCAGG others(498): Show |
1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.237-1935_237-1934i others(507): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGCAGG others(628): Show |
2 | a0001c0009t0007g0135a0001c0026t0051g0169 | 2 | HG01243.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.237-1935_237-1934i others(637): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(2): Show |
3 | a0001c0001t0003g0151a0001c0002t0002g0206a0001c0002t0003g0186 | 3 | HG01516.hp2 HG02080.hp1 HG02083.hp2 |
intron_variant | MODIFIER | c.237-1935_237-1934i others(11): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(25): Show |
35 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0152others(32): Show | 35 | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(32): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(161): Show |
2 | a0001c0002t0002g0210a0001c0002t0004g0184 | 2 | NA18966.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.237-1935_237-1934i others(170): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(116): Show |
3 | a0001c0001t0003g0173a0001c0002t0003g0219a0001c0002t0007g0218 | 3 | HG02155.hp2 NA18982.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.237-1935_237-1934i others(125): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(48): Show |
9 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0004g0133others(6): Show | 9 | HG01099.hp2 HG02717.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(57): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(137): Show |
1 | a0001c0002t0007g0203 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(146): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(114): Show |
1 | a0001c0002t0003g0222 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(123): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(284): Show |
1 | a0001c0002t0003g0180 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.237-1935_237-1934i others(293): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(49): Show |
1 | a0001c0001t0047g0168 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(58): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGAGC others(162): Show |
1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(171): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGGGC others(25): Show |
5 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(2): Show | 5 | HG01109.hp1 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGGGG others(26): Show |
15 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(12): Show | 15 | HG01243.hp1 HG01884.hp2 HG01975.hp1 others(12): Show |
intron_variant | MODIFIER | c.237-1935_237-1934i others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGGGG others(163): Show |
1 | a0001c0050t0003g0201 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.237-1935_237-1934i others(172): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596214
|
T | TGGGGGGG others(27): Show |
1 | a0001c0002t0004g0199 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.237-1935_237-1934i others(36): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596214 | |||||
| chr22:39596217
|
C | T | 1 | a0001c0002t0003g0180 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.237-1934C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596217 | ||||||
| chr22:39596218
|
G | A | 1 | a0001c0050t0003g0201 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.237-1933G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596218 | ||||||
| chr22:39596222
|
A | G | 1 | a0001c0002t0003g0222 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.237-1929A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596222 | ||||||
| chr22:39596227
|
T | TG | 5 | a0001c0002t0002g0206a0001c0014t0001g0045a0001c0027t0015g0092others(2): Show | 5 | HG02083.hp2 HG02922.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-1919dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596227 | |||||
| chr22:39596230
|
G | GGGGGCAG others(489): Show |
3 | a0001c0027t0015g0136a0003c0005t0005g0170a0003c0005t0008g0171 | 3 | HG01891.hp2 HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.237-1919_237-1918i others(498): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596230 | |||||
| chr22:39596230
|
G | GGGGGCAG others(490): Show |
1 | a0003c0005t0005g0172 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.237-1919_237-1918i others(499): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596230 | |||||
| chr22:39596232
|
GA | G | 16 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(13): Show | 16 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(13): Show |
intron_variant | MODIFIER | c.237-1918delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596232 | ||||||
| chr22:39596233
|
A | G | 54 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0151others(51): Show | 54 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.237-1918A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596233 | ||||||
| chr22:39596240
|
T | C | 78 | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0122others(75): Show | 78 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(75): Show |
intron_variant | MODIFIER | c.237-1911T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596240 | ||||||
| chr22:39596240
|
T | G | 1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.237-1911T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596240 | ||||||
| chr22:39596241
|
G | A | 73 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(70): Show | 73 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(70): Show |
intron_variant | MODIFIER | c.237-1910G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596241 | ||||||
| chr22:39596245
|
G | A | 36 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0151others(33): Show | 36 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(33): Show |
intron_variant | MODIFIER | c.237-1906G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596245 | ||||||
| chr22:39596250
|
T | TGGGGGGG others(206): Show |
1 | a0001c0001t0003g0151 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.237-1895_237-1894i others(215): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596250 | |||||
| chr22:39596253
|
GGGGCAGG others(12): Show |
G | 1 | a0001c0001t0002g0147 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.237-1875_237-1857d others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596253 | |||||
| chr22:39596267
|
G | A | 4 | a0001c0002t0002g0206a0001c0002t0003g0186a0001c0002t0011g0069others(1): Show | 4 | HG00099.hp1 HG02080.hp1 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-1884G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596267 | ||||||
| chr22:39596272
|
T | TGGG | 41 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0152others(38): Show | 41 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(38): Show |
intron_variant | MODIFIER | c.237-1878_237-1876d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596272 | |||||
| chr22:39596272
|
TGGGCAGG others(38): Show |
T | 76 | a0001c0001t0003g0023a0001c0001t0005g0007a0001c0001t0007g0038others(73): Show | 76 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show |
intron_variant | MODIFIER | c.237-1848_237-1804d others(47): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596272 | |||||
| chr22:39596274
|
G | GGGGA | 33 | a0001c0001t0003g0041a0001c0001t0003g0160a0001c0001t0003g0165others(30): Show | 33 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.237-1876_237-1875i others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596274 | |||||
| chr22:39596274
|
G | GGGGGCAG others(253): Show |
1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.237-1876_237-1875i others(262): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596274 | |||||
| chr22:39596280
|
G | A | 34 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(31): Show | 34 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.237-1871G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596280 | ||||||
| chr22:39596280
|
GCGGAGGG others(16): Show |
G | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.237-1854_237-1832d others(25): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596280 | |||||
| chr22:39596281
|
C | T | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.237-1870C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596281 | ||||||
| chr22:39596286
|
G | A | 26 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(23): Show | 26 | HG00323.hp2 HG00609.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.237-1865G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596286 | ||||||
| chr22:39596286
|
G | GGAGATGG others(161): Show |
1 | a0001c0002t0003g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.237-1855_237-1854i others(170): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596286 | |||||
| chr22:39596286
|
G | GGAGATGG others(29): Show |
1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.237-1855_237-1854i others(38): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596286 | |||||
| chr22:39596297
|
A | G | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.237-1854A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596297 | ||||||
| chr22:39596297
|
AGCAGGAC others(15): Show |
A | 10 | a0001c0034t0028g0102a0002c0031t0003g0080a0002c0031t0003g0081others(7): Show | 10 | HG02257.hp1 HG02895.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.237-1848_237-1827d others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596297 | |||||
| chr22:39596303
|
A | G | 49 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(46): Show | 49 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.237-1848A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596303 | ||||||
| chr22:39596304
|
C | CGGAGGGA others(95): Show |
1 | a0001c0002t0045g0195 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.237-1832_237-1831i others(104): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596304 | |||||
| chr22:39596304
|
C | CGGAGGGA others(96): Show |
1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.237-1832_237-1831i others(105): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596304 | |||||
| chr22:39596304
|
C | CGGAGGGA others(139): Show |
1 | a0001c0001t0050g0153 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.237-1832_237-1831i others(148): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596304 | |||||
| chr22:39596304
|
C | CGGAGGGA others(139): Show |
36 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0152others(33): Show | 36 | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(33): Show |
intron_variant | MODIFIER | c.237-1832_237-1831i others(148): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596304 | |||||
| chr22:39596304
|
C | T | 2 | a0001c0002t0003g0186a0001c0002t0011g0069 | 2 | HG00099.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.237-1847C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596304 | ||||||
| chr22:39596309
|
G | A | 39 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(36): Show | 39 | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.237-1842G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596309 | ||||||
| chr22:39596314
|
T | TG | 9 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0051g0169others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-1831dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGAG others(224): Show |
1 | a0006c0012t0008g0143 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.237-1832_237-1831i others(233): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGAG others(63): Show |
1 | a0002c0003t0001g0159 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.237-1832_237-1831i others(72): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGAG others(132): Show |
5 | a0001c0002t0002g0234a0001c0002t0003g0228a0001c0002t0007g0229others(2): Show | 5 | HG01106.hp2 HG01255.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-1832_237-1831i others(141): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGAG others(178): Show |
1 | a0001c0002t0002g0230 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.237-1832_237-1831i others(187): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGAG others(132): Show |
2 | a0001c0002t0002g0235a0004c0006t0023g0227 | 2 | HG01934.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.237-1832_237-1831i others(141): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
T | TGGGGGCA others(250): Show |
1 | a0001c0030t0005g0127 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.237-1832_237-1831i others(259): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596314
|
TG | T | 13 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(10): Show | 13 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(10): Show |
intron_variant | MODIFIER | c.237-1831delG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596314 | |||||
| chr22:39596319
|
G | GA | 23 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(20): Show | 23 | HG00323.hp2 HG00609.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.237-1832_237-1831i others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596319 | ||||||
| chr22:39596319
|
G | GAGCAGGA others(383): Show |
1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.237-1832_237-1831i others(392): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596319 | ||||||
| chr22:39596319
|
G | GAGCAGGG others(109): Show |
1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.237-1832_237-1831i others(118): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596319 | ||||||
| chr22:39596319
|
G | GGGCAGGG others(369): Show |
1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.237-1831_237-1830i others(378): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596319 | |||||
| chr22:39596319
|
G | GGGCAGGG others(178): Show |
3 | a0004c0006t0014g0207a0004c0006t0018g0178a0004c0006t0042g0181 | 3 | HG00733.hp2 HG01169.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.237-1831_237-1830i others(187): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596319 | |||||
| chr22:39596323
|
G | GGGCGGAG others(6): Show |
8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.237-1821_237-1820i others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596323 | |||||
| chr22:39596325
|
G | A | 2 | a0001c0001t0021g0039a0001c0001t0021g0040 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.237-1826G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596325 | ||||||
| chr22:39596331
|
G | A | 51 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(48): Show | 51 | HG00323.hp2 HG00408.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.237-1820G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596331 | ||||||
| chr22:39596331
|
G | GGAGATGG others(12): Show |
2 | a0001c0001t0002g0123a0001c0001t0003g0122 | 2 | HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.237-1812_237-1811i others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596331 | |||||
| chr22:39596331
|
G | GGAGATGG others(35): Show |
3 | a0001c0018t0002g0157a0001c0018t0002g0158a0022c0037t0041g0166 | 3 | HG00280.hp2 HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.237-1812_237-1811i others(44): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596331 | |||||
| chr22:39596331
|
G | GGAGATGG others(153): Show |
1 | a0001c0009t0007g0135 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.237-1798_237-1797i others(162): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596331 | |||||
| chr22:39596338
|
GGGGA | G | 36 | a0001c0001t0003g0152a0001c0001t0050g0153a0001c0002t0002g0189others(33): Show | 36 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(33): Show |
intron_variant | MODIFIER | c.237-1811_237-1808d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596338 | |||||
| chr22:39596340
|
G | GGGCAGGG others(113): Show |
2 | a0002c0025t0001g0090a0002c0025t0001g0091 | 2 | NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.237-1810_237-1809i others(122): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596340 | |||||
| chr22:39596340
|
G | GGGCAGGG others(146): Show |
2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.237-1810_237-1809i others(155): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596340 | |||||
| chr22:39596340
|
G | GGGCAGGG others(157): Show |
11 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(8): Show | 11 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.237-1810_237-1809i others(166): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596340 | |||||
| chr22:39596341
|
GA | G | 17 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(14): Show | 17 | HG01099.hp2 HG01975.hp1 HG02083.hp1 others(14): Show |
intron_variant | MODIFIER | c.237-1809delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596341 | ||||||
| chr22:39596342
|
A | G | 43 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(40): Show | 43 | HG00323.hp2 HG00733.hp1 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.237-1809A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596342 | ||||||
| chr22:39596354
|
A | AGAGATGG others(108): Show |
1 | a0001c0009t0004g0132 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.237-1787_237-1786i others(117): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596354 | |||||
| chr22:39596354
|
A | G | 23 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(20): Show | 23 | HG01109.hp1 HG01243.hp1 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.237-1797A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596354 | ||||||
| chr22:39596363
|
G | GGCAGGGC others(91): Show |
2 | a0001c0002t0007g0196a0001c0027t0015g0092 | 2 | HG02922.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.237-1787_237-1786i others(100): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596363 | |||||
| chr22:39596363
|
GGA | G | 9 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(6): Show | 9 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(6): Show |
intron_variant | MODIFIER | c.237-1786_237-1785d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596363 | |||||
| chr22:39596364
|
G | GCAGGGCG others(156): Show |
1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.237-1787_237-1786i others(165): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596364 | ||||||
| chr22:39596364
|
G | GCAGGGCG others(126): Show |
1 | a0001c0050t0003g0201 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.237-1787_237-1786i others(135): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596364 | ||||||
| chr22:39596364
|
G | GCAGGGCG others(113): Show |
1 | a0001c0002t0004g0187 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.237-1787_237-1786i others(122): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596364 | ||||||
| chr22:39596364
|
GA | G | 2 | a0001c0001t0021g0039a0001c0001t0021g0040 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.237-1786delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596364 | ||||||
| chr22:39596365
|
A | AGCAGGGC others(80): Show |
1 | a0001c0026t0051g0169 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.237-1764_237-1763i others(89): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596365 | |||||
| chr22:39596365
|
A | AGCAGGGT others(34): Show |
5 | a0001c0022t0010g0004a0001c0027t0015g0136a0003c0005t0005g0170others(2): Show | 5 | HG01891.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-1780_237-1779i others(43): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596365 | |||||
| chr22:39596365
|
A | G | 32 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(29): Show | 32 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(29): Show |
intron_variant | MODIFIER | c.237-1786A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596365 | ||||||
| chr22:39596369
|
G | GGACGGAG others(116): Show |
3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.237-1781_237-1780i others(125): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596369 | |||||
| chr22:39596373
|
G | A | 3 | a0001c0002t0004g0187a0001c0050t0003g0201a0016c0045t0002g0220 | 3 | HG01975.hp1 NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.237-1778G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596373 | ||||||
| chr22:39596377
|
A | G | 27 | a0001c0001t0002g0162a0001c0001t0003g0041a0001c0001t0003g0151others(24): Show | 27 | HG00323.hp2 HG00408.hp1 HG00609.hp2 others(24): Show |
intron_variant | MODIFIER | c.237-1774A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596377 | ||||||
| chr22:39596382
|
T | TGGGGGGC others(177): Show |
2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.237-1764_237-1763i others(186): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596382 | |||||
| chr22:39596388
|
A | G | 35 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(32): Show | 35 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.237-1763A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596388 | ||||||
| chr22:39596395
|
C | T | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.237-1756C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596395 | ||||||
| chr22:39596400
|
A | AGAGATGG others(85): Show |
1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.237-1729_237-1728i others(94): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596400 | |||||
| chr22:39596400
|
A | AGAGATGG others(62): Show |
30 | a0001c0001t0003g0152a0001c0001t0050g0153a0001c0002t0002g0189others(27): Show | 30 | HG01261.hp2 HG01943.hp1 HG02071.hp2 others(27): Show |
intron_variant | MODIFIER | c.237-1706_237-1705i others(71): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596400 | |||||
| chr22:39596400
|
A | G | 16 | a0001c0001t0021g0039a0001c0001t0021g0040a0001c0002t0004g0197others(13): Show | 16 | HG00280.hp2 HG01515.hp2 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.237-1751A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596400 | ||||||
| chr22:39596405
|
T | TGGGGGGG others(17): Show |
1 | a0023c0048t0002g0211 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.237-1739_237-1716d others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596405 | |||||
| chr22:39596405
|
T | TGGGGGGG others(63): Show |
2 | a0001c0002t0002g0213a0001c0002t0004g0184 | 2 | HG00408.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.237-1706_237-1705i others(72): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596405 | |||||
| chr22:39596405
|
TG | T | 16 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(13): Show | 16 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(13): Show |
intron_variant | MODIFIER | c.237-1739delG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596405 | |||||
| chr22:39596408
|
G | C | 9 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(6): Show | 9 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(6): Show |
intron_variant | MODIFIER | c.237-1743G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596408 | ||||||
| chr22:39596409
|
G | GGAGAGAG others(47): Show |
9 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(6): Show | 9 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(6): Show |
intron_variant | MODIFIER | c.237-1741_237-1740i others(56): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596409 | |||||
| chr22:39596409
|
G | GGGCAGGG others(11): Show |
3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.237-1740_237-1739i others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596409 | |||||
| chr22:39596409
|
G | GGGGCAGG others(70): Show |
2 | a0001c0001t0021g0039a0001c0001t0021g0040 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.237-1729_237-1728i others(79): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596409 | |||||
| chr22:39596411
|
G | A | 4 | a0001c0009t0007g0135a0001c0027t0015g0092a0002c0025t0001g0090others(1): Show | 4 | HG01243.hp2 HG02922.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-1740G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596411 | ||||||
| chr22:39596419
|
G | A | 12 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(9): Show | 12 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.237-1732G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596419 | ||||||
| chr22:39596423
|
G | A | 17 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(14): Show | 17 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(14): Show |
intron_variant | MODIFIER | c.237-1728G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596423 | ||||||
| chr22:39596428
|
T | TG | 9 | a0001c0001t0003g0023a0001c0001t0052g0075a0001c0002t0003g0183others(6): Show | 9 | HG00408.hp1 HG00639.hp1 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.237-1716dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596428 | |||||
| chr22:39596428
|
T | TGGGGGGG others(63): Show |
1 | a0006c0015t0002g0221 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.237-1706_237-1705i others(72): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596428 | |||||
| chr22:39596428
|
TGGG | T | 11 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(8): Show | 11 | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.237-1718_237-1716d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596428 | |||||
| chr22:39596434
|
G | A | 14 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(11): Show | 14 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(11): Show |
intron_variant | MODIFIER | c.237-1717G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596434 | ||||||
| chr22:39596440
|
G | A | 14 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(11): Show | 14 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(11): Show |
intron_variant | MODIFIER | c.237-1711G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596440 | ||||||
| chr22:39596441
|
C | T | 14 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0003g0173others(11): Show | 14 | HG01099.hp2 HG02083.hp1 HG02155.hp2 others(11): Show |
intron_variant | MODIFIER | c.237-1710C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596441 | ||||||
| chr22:39596446
|
G | A | 67 | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0122others(64): Show | 67 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(64): Show |
intron_variant | MODIFIER | c.237-1705G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596446 | ||||||
| chr22:39596446
|
G | GGAGATGG others(16): Show |
11 | a0001c0001t0002g0162a0001c0001t0003g0151a0001c0001t0003g0160others(8): Show | 11 | HG00323.hp2 HG00733.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.237-1700_237-1699i others(25): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596446 | |||||
| chr22:39596451
|
T | TGGGGGGG others(64): Show |
2 | a0001c0002t0002g0205a0001c0002t0017g0215 | 2 | HG00544.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.237-1700_237-1699i others(73): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596451 | ||||||
| chr22:39596452
|
C | G | 91 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(88): Show | 91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.237-1699C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596452 | ||||||
| chr22:39596460
|
A | AGGGCGGA others(18): Show |
1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.237-1672_237-1671i others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596460 | |||||
| chr22:39596464
|
C | CGGAGGGA others(15): Show |
6 | a0001c0022t0010g0004a0001c0026t0051g0169a0001c0027t0015g0136others(3): Show | 6 | HG01884.hp1 HG01891.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.237-1683_237-1682i others(24): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596464 | |||||
| chr22:39596464
|
C | CGGAGGGA others(38): Show |
1 | a0001c0009t0007g0135 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.237-1683_237-1682i others(47): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596464 | |||||
| chr22:39596469
|
A | G | 5 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0027t0015g0092others(2): Show | 5 | HG02922.hp1 HG03704.hp1 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-1682A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596469 | ||||||
| chr22:39596475
|
G | C | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.237-1676G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596475 | ||||||
| chr22:39596480
|
A | G | 4 | a0001c0002t0003g0183a0001c0027t0015g0092a0002c0025t0001g0090others(1): Show | 4 | HG00408.hp1 HG02922.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-1671A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596480 | ||||||
| chr22:39596486
|
A | G | 6 | a0001c0002t0003g0183a0001c0027t0015g0092a0002c0025t0001g0090others(3): Show | 6 | HG00408.hp1 HG01109.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.237-1665A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596486 | ||||||
| chr22:39596487
|
T | C | 4 | a0001c0002t0003g0183a0001c0027t0015g0092a0002c0025t0001g0090others(1): Show | 4 | HG00408.hp1 HG02922.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-1664T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596487 | ||||||
| chr22:39596492
|
A | G | 2 | a0001c0001t0002g0123a0001c0001t0003g0122 | 2 | HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.237-1659A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596492 | ||||||
| chr22:39596497
|
TGGG | T | 39 | a0001c0001t0003g0152a0001c0001t0050g0153a0001c0002t0002g0189others(36): Show | 39 | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(36): Show |
intron_variant | MODIFIER | c.237-1650_237-1648d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596497 | |||||
| chr22:39596500
|
G | GGGAGCAG others(13): Show |
1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.237-1649_237-1648i others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39596500 | |||||
| chr22:39596544
|
G | T | 1 | a0004c0004t0043g0064 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.237-1607G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596544 | ||||||
| chr22:39596548
|
A | G | 1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.237-1603A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596548 | ||||||
| chr22:39596629
|
A | G | 213 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.237-1522A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596629 | ||||||
| chr22:39596655
|
G | A | 79 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(76): Show |
intron_variant | MODIFIER | c.237-1496G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596655 | ||||||
| chr22:39596659
|
G | A | 1 | a0002c0003t0001g0073 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.237-1492G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596659 | ||||||
| chr22:39596781
|
T | C | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-1370T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596781 | ||||||
| chr22:39596816
|
G | A | 1 | a0003c0008t0006g0085 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.237-1335G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596816 | ||||||
| chr22:39596846
|
A | G | 1 | a0017c0036t0001g0043 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.237-1305A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39596846 | ||||||
| chr22:39597053
|
C | G | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.237-1098C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597053 | ||||||
| chr22:39597066
|
T | TGGGTGTC others(8): Show |
1 | a0001c0002t0004g0199 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.237-1084_237-1070d others(17): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | 39597066 | |||||
| chr22:39597181
|
C | T | 3 | a0004c0004t0018g0003a0004c0004t0019g0021a0004c0004t0019g0022 | 3 | HG00642.hp1 HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.237-970C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597181 | ||||||
| chr22:39597323
|
C | T | 4 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-828C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597323 | ||||||
| chr22:39597526
|
C | G | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.237-625C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597526 | ||||||
| chr22:39597664
|
G | A | 72 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(69): Show | 72 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.237-487G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597664 | ||||||
| chr22:39597829
|
C | T | 198 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(195): Show | 198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.237-322C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39597829 | ||||||
| chr22:39598056
|
G | C | 2 | a0001c0002t0002g0205a0001c0002t0002g0213 | 2 | HG00408.hp2 HG00544.hp2 |
intron_variant | MODIFIER | c.237-95G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39598056 | ||||||
| chr22:39598100
|
A | G | 191 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(188): Show | 191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.237-51A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | chr22 | 39598100 | ||||||
| chr22:39598288
|
C | CGCCCCGC others(3): Show |
1 | a0006c0015t0002g0188 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.348+30_348+31insCG others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598288 | |||||
| chr22:39598288
|
C | CGCCCT | 125 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(122): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.348+32_348+36dupGC others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598288 | |||||
| chr22:39598288
|
C | T | 1 | a0001c0002t0002g0213 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.348+26C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598288 | ||||||
| chr22:39598335
|
A | G | 3 | a0001c0001t0003g0152a0001c0001t0050g0153a0001c0002t0003g0212 | 3 | HG01943.hp1 HG02080.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.348+73A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598335 | ||||||
| chr22:39598395
|
C | A | 1 | a0003c0017t0005g0088 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.348+133C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598395 | ||||||
| chr22:39598576
|
T | C | 1 | a0002c0003t0001g0048 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.348+314T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598576 | ||||||
| chr22:39598699
|
G | A | 2 | a0001c0018t0002g0157a0001c0018t0002g0158 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.348+437G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598699 | ||||||
| chr22:39598758
|
T | G | 8 | a0001c0001t0004g0065a0001c0001t0036g0086a0001c0009t0002g0009others(5): Show | 8 | HG01099.hp1 HG01358.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.348+496T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598758 | ||||||
| chr22:39598836
|
G | A | 36 | a0001c0001t0057g0067a0001c0002t0004g0232a0001c0002t0031g0200others(33): Show | 36 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.348+574G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598836 | ||||||
| chr22:39598837
|
C | T | 36 | a0001c0001t0057g0067a0001c0002t0004g0232a0001c0002t0031g0200others(33): Show | 36 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.348+575C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598837 | ||||||
| chr22:39598850
|
G | A | 23 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.348+588G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598850 | ||||||
| chr22:39598883
|
G | C | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.348+621G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598883 | ||||||
| chr22:39598914
|
C | T | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.348+652C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39598914 | ||||||
| chr22:39598941
|
G | GT | 16 | a0001c0001t0002g0117a0001c0001t0002g0145a0001c0001t0002g0147others(13): Show | 16 | HG00544.hp1 HG00609.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.348+703dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
G | GTT | 65 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(62): Show | 65 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(62): Show |
intron_variant | MODIFIER | c.348+702_348+703dup others(2): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
G | GTTT | 56 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(53): Show | 56 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
intron_variant | MODIFIER | c.348+701_348+703dup others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
G | GTTTT | 21 | a0001c0001t0004g0107a0001c0001t0005g0007a0001c0001t0052g0075others(18): Show | 21 | HG00280.hp1 HG00741.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.348+700_348+703dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
G | GTTTTT | 15 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0008g0008others(12): Show | 15 | HG00639.hp1 HG01255.hp2 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.348+699_348+703dup others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
G | GTTTTTT | 5 | a0001c0001t0005g0119a0001c0001t0005g0125a0001c0001t0008g0131others(2): Show | 5 | HG01243.hp1 HG01934.hp2 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.348+698_348+703dup others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
GT | G | 37 | a0001c0001t0057g0067a0001c0002t0004g0232a0001c0002t0031g0200others(34): Show | 37 | HG00639.hp2 HG00733.hp2 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.348+703delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39598941
|
GTT | G | 5 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(2): Show | 5 | HG01975.hp1 HG02895.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+702_348+703del others(2): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39598941 | |||||
| chr22:39599010
|
G | A | 36 | a0001c0001t0057g0067a0001c0002t0004g0232a0001c0002t0031g0200others(33): Show | 36 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.348+748G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599010 | ||||||
| chr22:39599049
|
T | C | 1 | a0001c0002t0002g0189 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.348+787T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599049 | ||||||
| chr22:39599164
|
G | A | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.348+902G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599164 | ||||||
| chr22:39599170
|
A | G | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.348+908A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599170 | ||||||
| chr22:39599244
|
A | G | 211 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(208): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.348+982A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599244 | ||||||
| chr22:39599311
|
G | A | 1 | a0006c0015t0002g0221 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.348+1049G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599311 | ||||||
| chr22:39599317
|
T | A | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.348+1055T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599317 | ||||||
| chr22:39599341
|
C | G | 1 | a0006c0015t0002g0225 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.348+1079C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599341 | ||||||
| chr22:39599383
|
G | A | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.348+1121G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599383 | ||||||
| chr22:39599435
|
T | C | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.349-1085T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599435 | ||||||
| chr22:39599570
|
G | A | 1 | a0012c0021t0022g0072 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.349-950G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599570 | ||||||
| chr22:39599589
|
A | G | 1 | a0001c0001t0047g0168 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.349-931A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599589 | ||||||
| chr22:39599608
|
G | A | 2 | a0001c0001t0008g0139a0002c0013t0012g0137 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.349-912G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599608 | ||||||
| chr22:39599618
|
C | CA | 7 | a0001c0001t0002g0148a0001c0001t0046g0115a0004c0004t0023g0057others(4): Show | 7 | HG00544.hp1 HG01081.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.349-872dupA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39599618 | |||||
| chr22:39599618
|
CAAA | C | 25 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(22): Show | 25 | HG00408.hp2 HG00544.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.349-874_349-872del others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39599618 | |||||
| chr22:39599618
|
CAAAA | C | 45 | a0001c0001t0003g0023a0001c0001t0004g0107a0001c0001t0005g0007others(42): Show | 45 | HG00609.hp2 HG00642.hp1 HG00741.hp2 others(42): Show |
intron_variant | MODIFIER | c.349-875_349-872del others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39599618 | |||||
| chr22:39599618
|
CAAAAA | C | 96 | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0152others(93): Show | 96 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(93): Show |
intron_variant | MODIFIER | c.349-876_349-872del others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39599618 | |||||
| chr22:39599618
|
CAAAAAA | C | 40 | a0001c0001t0002g0162a0001c0001t0003g0122a0001c0001t0003g0151others(37): Show | 40 | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.349-877_349-872del others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | 39599618 | |||||
| chr22:39599630
|
A | G | 1 | a0011c0029t0020g0082 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.349-890A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599630 | ||||||
| chr22:39599711
|
G | A | 23 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.349-809G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599711 | ||||||
| chr22:39599877
|
C | T | 1 | a0001c0002t0002g0210 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.349-643C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39599877 | ||||||
| chr22:39600098
|
T | G | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.349-422T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39600098 | ||||||
| chr22:39600249
|
T | C | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.349-271T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39600249 | ||||||
| chr22:39600259
|
C | T | 103 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(100): Show | 103 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(100): Show |
intron_variant | MODIFIER | c.349-261C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | chr22 | 39600259 | ||||||
| chr22:39600687
|
T | C | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.482+34T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39600687 | ||||||
| chr22:39600761
|
G | A | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+108G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39600761 | ||||||
| chr22:39600767
|
C | A | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.482+114C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39600767 | ||||||
| chr22:39600843
|
C | T | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+190C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39600843 | ||||||
| chr22:39600862
|
C | CTGGGTGA others(5): Show |
1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.482+212_482+223dup others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39600862 | |||||
| chr22:39600877
|
C | T | 97 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(94): Show | 97 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(94): Show |
intron_variant | MODIFIER | c.482+224C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39600877 | ||||||
| chr22:39601165
|
G | A | 56 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(53): Show | 56 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
intron_variant | MODIFIER | c.482+512G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601165 | ||||||
| chr22:39601232
|
C | T | 1 | a0004c0006t0018g0178 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.482+579C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601232 | ||||||
| chr22:39601270
|
A | G | 1 | a0002c0003t0009g0054 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.482+617A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601270 | ||||||
| chr22:39601271
|
G | A | 1 | a0002c0003t0009g0054 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.482+618G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601271 | ||||||
| chr22:39601512
|
A | G | 24 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(21): Show | 24 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.482+859A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601512 | ||||||
| chr22:39601519
|
G | C | 10 | a0001c0001t0002g0117a0001c0001t0002g0145a0001c0001t0002g0147others(7): Show | 10 | HG00544.hp1 HG00609.hp1 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.482+866G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601519 | ||||||
| chr22:39601560
|
G | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+907G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601560 | ||||||
| chr22:39601625
|
C | T | 54 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(51): Show | 54 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(51): Show |
intron_variant | MODIFIER | c.482+972C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601625 | ||||||
| chr22:39601687
|
A | G | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.482+1034A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601687 | ||||||
| chr22:39601705
|
A | G | 1 | a0010c0028t0004g0035 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.482+1052A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601705 | ||||||
| chr22:39601777
|
TA | T | 3 | a0001c0002t0002g0205a0001c0002t0004g0198a0004c0006t0018g0178 | 3 | HG00544.hp2 HG01515.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.482+1130delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601777 | |||||
| chr22:39601823
|
CTCCT | C | 75 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(72): Show | 75 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.482+1182_482+1185d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601823 | |||||
| chr22:39601839
|
C | G | 1 | a0015c0043t0007g0149 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.482+1186C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601839 | ||||||
| chr22:39601839
|
C | T | 1 | a0001c0002t0004g0199 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.482+1186C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601839 | ||||||
| chr22:39601855
|
C | CTCCT | 23 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.482+1221_482+1224d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601855 | |||||
| chr22:39601859
|
T | C | 1 | a0001c0009t0004g0132 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.482+1206T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601859 | ||||||
| chr22:39601870
|
C | T | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.482+1217C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601870 | ||||||
| chr22:39601875
|
T | TTC | 96 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(93): Show | 96 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(93): Show |
intron_variant | MODIFIER | c.482+1230_482+1231d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601875 | |||||
| chr22:39601892
|
A | ACCCT | 3 | a0001c0002t0007g0203a0001c0018t0002g0157a0001c0018t0002g0158 | 3 | HG01515.hp2 HG01517.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.482+1262_482+1265d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601892 | |||||
| chr22:39601892
|
A | ACCCTCCC others(1): Show |
74 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(71): Show | 74 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.482+1258_482+1265d others(10): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601892 | |||||
| chr22:39601892
|
A | ACCCTCCC others(91): Show |
1 | a0020c0042t0005g0077 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.482+1251_482+1252i others(100): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601892 | |||||
| chr22:39601892
|
A | ACCCTCCC others(87): Show |
1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.482+1251_482+1252i others(96): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601892 | |||||
| chr22:39601892
|
A | ACCCTCCC others(91): Show |
1 | a0002c0032t0001g0231 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.482+1251_482+1252i others(100): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601892 | |||||
| chr22:39601895
|
C | CTCCCTCC others(30): Show |
1 | a0002c0003t0004g0005 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.482+1251_482+1252i others(39): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601895 | |||||
| chr22:39601895
|
C | CTCCCTCC others(34): Show |
7 | a0001c0001t0004g0107a0001c0001t0005g0007a0002c0003t0001g0106others(4): Show | 7 | HG00639.hp1 HG02615.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.482+1251_482+1252i others(43): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601895 | |||||
| chr22:39601897
|
C | CCCTT | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+1247_482+1248i others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601897 | |||||
| chr22:39601899
|
C | CTCCCTTC others(30): Show |
70 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(67): Show | 70 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(67): Show |
intron_variant | MODIFIER | c.482+1251_482+1252i others(39): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601899 | |||||
| chr22:39601903
|
C | CT | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+1251dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601903 | |||||
| chr22:39601903
|
C | CTTCCT | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.482+1251_482+1252i others(7): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601903 | |||||
| chr22:39601903
|
C | CTTCCTTC others(2): Show |
10 | a0001c0014t0001g0045a0002c0003t0001g0048a0002c0003t0001g0049others(7): Show | 10 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.482+1251_482+1252i others(11): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601903 | |||||
| chr22:39601903
|
C | CTTCCTTC others(26): Show |
1 | a0003c0008t0006g0124 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.482+1251_482+1252i others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601903 | |||||
| chr22:39601907
|
C | T | 15 | a0001c0014t0001g0045a0001c0027t0015g0092a0002c0003t0001g0048others(12): Show | 15 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.482+1254C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601907 | ||||||
| chr22:39601911
|
C | T | 15 | a0001c0014t0001g0045a0001c0027t0015g0092a0002c0003t0001g0048others(12): Show | 15 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.482+1258C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601911 | ||||||
| chr22:39601915
|
C | CT | 4 | a0001c0001t0004g0107a0002c0032t0001g0231a0003c0005t0053g0142others(1): Show | 4 | HG01346.hp2 HG02145.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.482+1263dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601915 | |||||
| chr22:39601915
|
C | T | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+1262C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601915 | ||||||
| chr22:39601916
|
T | TC | 78 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.482+1265dupC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601916 | |||||
| chr22:39601919
|
T | C | 37 | a0001c0001t0057g0067a0001c0002t0002g0205a0001c0002t0004g0232others(34): Show | 37 | HG00544.hp2 HG00639.hp2 HG00733.hp2 others(34): Show |
intron_variant | MODIFIER | c.482+1266T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601919 | ||||||
| chr22:39601923
|
T | C | 26 | a0001c0002t0002g0205a0001c0002t0004g0232a0001c0002t0031g0200others(23): Show | 26 | HG00544.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.482+1270T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601923 | ||||||
| chr22:39601927
|
T | C | 16 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.482+1274T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601927 | ||||||
| chr22:39601928
|
T | TCCCTCCC others(6): Show |
13 | a0001c0014t0001g0045a0001c0027t0015g0092a0002c0003t0001g0048others(10): Show | 13 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.482+1277_482+1278i others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601928 | |||||
| chr22:39601932
|
G | C | 13 | a0001c0014t0001g0045a0001c0027t0015g0092a0002c0003t0001g0048others(10): Show | 13 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.482+1279G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601932 | ||||||
| chr22:39601932
|
G | T | 119 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(116): Show | 119 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
intron_variant | MODIFIER | c.482+1279G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601932 | ||||||
| chr22:39601935
|
T | C | 8 | a0001c0001t0005g0007a0002c0003t0001g0106a0002c0003t0004g0005others(5): Show | 8 | HG00639.hp1 HG02615.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.482+1282T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601935 | ||||||
| chr22:39601935
|
T | TTCCCTCC others(306): Show |
1 | a0002c0013t0029g0164 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.482+1285_482+1286i others(315): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601935
|
T | TTCCCTCC others(310): Show |
1 | a0002c0013t0001g0140 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.482+1285_482+1286i others(319): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601935
|
T | TTCCTTCC others(141): Show |
1 | a0003c0005t0008g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.482+1292_482+1293i others(150): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601935
|
T | TTCCTTCC others(145): Show |
14 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(11): Show | 14 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+1292_482+1293i others(154): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601935
|
T | TTCCTTCT others(141): Show |
6 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0014t0030g0129others(3): Show | 6 | HG02622.hp2 HG02886.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+1288_482+1289i others(150): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601935
|
T | TTCCTTCT others(140): Show |
1 | a0011c0029t0020g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.482+1288_482+1289i others(149): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601935 | |||||
| chr22:39601936
|
T | G | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+1283T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601936 | ||||||
| chr22:39601939
|
T | C | 71 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(68): Show | 71 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(68): Show |
intron_variant | MODIFIER | c.482+1286T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601939 | ||||||
| chr22:39601951
|
T | C | 7 | a0001c0001t0005g0007a0002c0003t0001g0106a0002c0003t0004g0005others(4): Show | 7 | HG00639.hp1 HG02615.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.482+1298T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601951 | ||||||
| chr22:39601952
|
T | TCC | 13 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(10): Show | 13 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+1300_482+1301i others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601952 | |||||
| chr22:39601952
|
T | TCCCTCC | 6 | a0005c0007t0006g0112a0009c0016t0005g0108a0009c0016t0015g0111others(3): Show | 6 | HG02965.hp1 HG02970.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+1300_482+1301i others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601952 | |||||
| chr22:39601952
|
T | TCCCTCCC others(3): Show |
1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.482+1300_482+1301i others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601952 | |||||
| chr22:39601953
|
C | CCCTCCTT others(39): Show |
4 | a0003c0005t0053g0142a0003c0017t0005g0088a0003c0017t0005g0089others(1): Show | 4 | HG02145.hp2 NA18906.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.482+1300_482+1301i others(48): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601953 | ||||||
| chr22:39601953
|
C | CCTTCCTT others(47): Show |
1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.482+1300_482+1301i others(56): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601953 | ||||||
| chr22:39601953
|
C | CCTTCCTT others(55): Show |
1 | a0002c0032t0001g0231 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.482+1300_482+1301i others(64): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601953 | ||||||
| chr22:39601954
|
T | C | 70 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(67): Show | 70 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.482+1301T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601954 | ||||||
| chr22:39601956
|
T | C | 21 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(18): Show | 21 | HG00140.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.482+1303T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601956 | ||||||
| chr22:39601958
|
T | C | 68 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(65): Show | 68 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.482+1305T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601958 | ||||||
| chr22:39601959
|
C | T | 10 | a0001c0014t0001g0045a0001c0027t0015g0092a0002c0003t0001g0048others(7): Show | 10 | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.482+1306C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601959 | ||||||
| chr22:39601960
|
T | C | 21 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(18): Show | 21 | HG00140.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.482+1307T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601960 | ||||||
| chr22:39601961
|
CTT | C | 11 | a0001c0009t0002g0009a0002c0003t0001g0033a0002c0003t0025g0028others(8): Show | 11 | HG00140.hp1 HG00642.hp1 HG01192.hp2 others(8): Show |
intron_variant | MODIFIER | c.482+1310_482+1311d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601961 | |||||
| chr22:39601961
|
CTTTCTT | C | 26 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0036g0086others(23): Show | 26 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.482+1310_482+1315d others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601961 | |||||
| chr22:39601962
|
T | C | 31 | a0001c0001t0005g0007a0001c0001t0007g0038a0001c0014t0001g0045others(28): Show | 31 | HG00639.hp1 HG00642.hp2 HG01071.hp1 others(28): Show |
intron_variant | MODIFIER | c.482+1309T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601962 | ||||||
| chr22:39601963
|
T | C | 39 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(36): Show | 39 | HG00639.hp1 HG00642.hp2 HG01071.hp1 others(36): Show |
intron_variant | MODIFIER | c.482+1310T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601963 | ||||||
| chr22:39601964
|
T | C | 32 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(29): Show | 32 | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.482+1311T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601964 | ||||||
| chr22:39601964
|
T | TCGCCCGC others(5): Show |
2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+1312_482+1313i others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601964 | |||||
| chr22:39601966
|
T | C | 30 | a0001c0001t0005g0007a0001c0001t0007g0038a0001c0014t0001g0045others(27): Show | 30 | HG00639.hp1 HG00642.hp2 HG01071.hp1 others(27): Show |
intron_variant | MODIFIER | c.482+1313T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601966 | ||||||
| chr22:39601967
|
T | C | 52 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(49): Show | 52 | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.482+1314T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601967 | ||||||
| chr22:39601968
|
T | C | 58 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(55): Show | 58 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show |
intron_variant | MODIFIER | c.482+1315T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601968 | ||||||
| chr22:39601968
|
T | TCC | 6 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(3): Show | 6 | HG02818.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+1316_482+1317i others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601968 | |||||
| chr22:39601968
|
T | TCCCTCC | 6 | a0001c0014t0001g0045a0002c0003t0001g0048a0002c0003t0001g0049others(3): Show | 6 | HG02145.hp1 HG02280.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+1316_482+1317i others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601968 | |||||
| chr22:39601970
|
A | ACCCCTCC others(285): Show |
1 | a0001c0002t0004g0199 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.482+1320_482+1321i others(294): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601970 | |||||
| chr22:39601970
|
A | ACTCCTCC others(281): Show |
1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.482+1318_482+1319i others(290): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601970 | |||||
| chr22:39601970
|
A | C | 19 | a0001c0001t0005g0007a0001c0001t0007g0038a0001c0022t0032g0030others(16): Show | 19 | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(16): Show |
intron_variant | MODIFIER | c.482+1317A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601970 | ||||||
| chr22:39601970
|
A | G | 6 | a0001c0001t0004g0107a0002c0032t0001g0231a0003c0005t0053g0142others(3): Show | 6 | HG01346.hp2 HG02145.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+1317A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601970 | ||||||
| chr22:39601970
|
A | T | 72 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(69): Show | 72 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(69): Show |
intron_variant | MODIFIER | c.482+1317A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601970 | ||||||
| chr22:39601971
|
C | CTCCCTT | 9 | a0001c0001t0007g0038a0001c0030t0004g0138a0002c0003t0009g0012others(6): Show | 9 | HG00642.hp2 HG01071.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.482+1318_482+1319i others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601971 | ||||||
| chr22:39601971
|
C | CTT | 9 | a0001c0001t0005g0007a0001c0022t0032g0030a0002c0003t0001g0046others(6): Show | 9 | HG00639.hp1 HG01891.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.482+1318_482+1319i others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601971 | ||||||
| chr22:39601972
|
C | CCGCCCTC others(5): Show |
1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.482+1320_482+1321i others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601972 | |||||
| chr22:39601974
|
T | G | 5 | a0002c0032t0001g0231a0003c0005t0053g0142a0003c0017t0005g0088others(2): Show | 5 | HG01346.hp2 HG02145.hp2 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.482+1321T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601974 | ||||||
| chr22:39601975
|
C | T | 30 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(27): Show | 30 | HG00639.hp1 HG00642.hp2 HG01071.hp1 others(27): Show |
intron_variant | MODIFIER | c.482+1322C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601975 | ||||||
| chr22:39601979
|
C | CCCTCCCT others(17): Show |
1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+1329_482+1330i others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601979 | |||||
| chr22:39601979
|
C | CCCTCTCT others(25): Show |
3 | a0002c0032t0001g0231a0003c0005t0053g0142a0020c0042t0005g0077 | 3 | HG01346.hp2 HG02145.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.482+1329_482+1330i others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601979 | |||||
| chr22:39601979
|
C | CCCTCTCT others(25): Show |
2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.482+1329_482+1330i others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601979 | |||||
| chr22:39601979
|
C | CCCTT | 15 | a0001c0002t0007g0203a0001c0014t0012g0126a0001c0018t0002g0157others(12): Show | 15 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.482+1345_482+1348d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601979 | |||||
| chr22:39601979
|
C | CCCTTCCT others(1): Show |
61 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(58): Show | 61 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(58): Show |
intron_variant | MODIFIER | c.482+1341_482+1348d others(10): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601979 | |||||
| chr22:39601979
|
C | T | 39 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(36): Show | 39 | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(36): Show |
intron_variant | MODIFIER | c.482+1326C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601979 | ||||||
| chr22:39601983
|
T | C | 9 | a0001c0001t0004g0107a0001c0001t0052g0075a0001c0027t0015g0092others(6): Show | 9 | HG02559.hp2 HG02895.hp2 HG02897.hp2 others(6): Show |
intron_variant | MODIFIER | c.482+1330T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601983 | ||||||
| chr22:39601987
|
T | C | 1 | a0021c0038t0001g0074 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.482+1334T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601987 | ||||||
| chr22:39601994
|
T | C | 5 | a0002c0032t0001g0231a0003c0005t0053g0142a0003c0017t0005g0088others(2): Show | 5 | HG01346.hp2 HG02145.hp2 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.482+1341T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601994 | ||||||
| chr22:39601998
|
T | C | 5 | a0002c0032t0001g0231a0003c0005t0053g0142a0003c0017t0005g0088others(2): Show | 5 | HG01346.hp2 HG02145.hp2 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.482+1345T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39601998 | ||||||
| chr22:39601998
|
T | TTCCTTCC others(220): Show |
6 | a0001c0022t0010g0004a0003c0005t0008g0044a0005c0007t0006g0097others(3): Show | 6 | HG02451.hp1 HG02559.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+1348_482+1349i others(229): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(224): Show |
3 | a0003c0005t0008g0171a0005c0007t0006g0100a0005c0007t0060g0095 | 3 | HG02486.hp2 HG02630.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.482+1348_482+1349i others(233): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(228): Show |
5 | a0001c0009t0007g0135a0001c0026t0051g0169a0001c0027t0015g0136others(2): Show | 5 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.482+1348_482+1349i others(237): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(232): Show |
4 | a0001c0002t0031g0200a0001c0014t0030g0129a0001c0023t0010g0130others(1): Show | 4 | HG02109.hp1 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.482+1348_482+1349i others(241): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(236): Show |
2 | a0001c0002t0004g0232a0001c0023t0010g0113 | 2 | HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.482+1348_482+1349i others(245): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(394): Show |
1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.482+1348_482+1349i others(403): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(9): Show |
2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+1348_482+1349i others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(224): Show |
1 | a0011c0029t0020g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.482+1348_482+1349i others(233): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCC others(224): Show |
1 | a0011c0029t0020g0082 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.482+1348_482+1349i others(233): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39601998
|
T | TTCCTTCT others(344): Show |
1 | a0001c0001t0038g0161 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.482+1348_482+1349i others(353): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39601998 | |||||
| chr22:39602002
|
C | T | 68 | a0001c0001t0003g0023a0001c0001t0003g0165a0001c0001t0003g0173others(65): Show | 68 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.482+1349C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602002 | ||||||
| chr22:39602006
|
T | C | 33 | a0001c0001t0038g0161a0001c0001t0057g0067a0001c0002t0002g0205others(30): Show | 33 | HG00544.hp2 HG01106.hp1 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.482+1353T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602006 | ||||||
| chr22:39602010
|
T | C | 32 | a0001c0001t0038g0161a0001c0002t0002g0205a0001c0002t0004g0199others(29): Show | 32 | HG00544.hp2 HG01106.hp1 HG01243.hp2 others(29): Show |
intron_variant | MODIFIER | c.482+1357T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602010 | ||||||
| chr22:39602010
|
T | TTCCCTCC others(130): Show |
2 | a0002c0019t0001g0036a0010c0041t0001g0037 | 2 | HG01261.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.482+1360_482+1361i others(139): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(297): Show |
1 | a0024c0035t0044g0167 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.482+1360_482+1361i others(306): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(289): Show |
1 | a0001c0001t0003g0165 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.482+1360_482+1361i others(298): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(293): Show |
3 | a0001c0001t0004g0133a0001c0001t0047g0168a0001c0002t0004g0197 | 3 | HG02083.hp1 HG02735.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.482+1360_482+1361i others(302): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(297): Show |
1 | a0001c0001t0009g0134 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.482+1360_482+1361i others(306): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(294): Show |
1 | a0001c0002t0004g0198 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.482+1360_482+1361i others(303): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTCC others(128): Show |
1 | a0002c0003t0001g0033 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.482+1360_482+1361i others(137): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602010
|
T | TTCCCTTC others(135): Show |
1 | a0002c0003t0009g0054 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.482+1360_482+1361i others(144): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602010 | |||||
| chr22:39602014
|
T | C | 1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.482+1361T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602014 | ||||||
| chr22:39602014
|
T | TTCCCTCC others(418): Show |
1 | a0008c0011t0004g0068 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(427): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602014
|
T | TTCCCTCC others(421): Show |
2 | a0008c0011t0003g0061a0008c0011t0004g0062 | 2 | HG01081.hp2 HG01257.hp2 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(430): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602014
|
T | TTCCCTCC others(417): Show |
1 | a0008c0011t0004g0059 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(426): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602014
|
T | TTCCCTCC others(422): Show |
1 | a0004c0004t0059g0058 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(431): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602014
|
T | TTCCCTCC others(417): Show |
1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(426): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602014
|
T | TTCCCTCC others(421): Show |
7 | a0001c0001t0002g0060a0001c0001t0011g0063a0001c0001t0039g0121others(4): Show | 7 | HG00741.hp1 HG01358.hp1 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(430): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602014 | |||||
| chr22:39602018
|
C | CTCCCTCC others(21): Show |
1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(30): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(285): Show |
1 | a0001c0030t0005g0127 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(294): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(468): Show |
1 | a0001c0002t0007g0203 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(477): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(114): Show |
3 | a0001c0022t0032g0030a0002c0003t0001g0046a0012c0021t0022g0072 | 3 | HG01891.hp1 HG02615.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(123): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(118): Show |
14 | a0001c0001t0005g0007a0001c0001t0007g0038a0002c0003t0004g0005others(11): Show | 14 | HG00642.hp2 HG01071.hp1 HG01192.hp1 others(11): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(127): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(110): Show |
14 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(119): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(429): Show |
1 | a0004c0006t0016g0191 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(438): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(433): Show |
3 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148 | 3 | HG00609.hp1 NA18954.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(442): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(430): Show |
1 | a0001c0001t0003g0114 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(439): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(429): Show |
5 | a0001c0001t0002g0117a0001c0001t0003g0116a0001c0001t0007g0141others(2): Show | 5 | HG00544.hp1 HG02165.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(438): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(388): Show |
1 | a0004c0006t0018g0178 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(397): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(386): Show |
1 | a0004c0006t0042g0181 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(395): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(390): Show |
1 | a0004c0006t0014g0207 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(399): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(281): Show |
2 | a0001c0002t0003g0180a0001c0002t0004g0190 | 2 | HG00323.hp2 HG00733.hp1 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(290): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(273): Show |
1 | a0001c0002t0007g0229 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(282): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(281): Show |
1 | a0001c0002t0003g0228 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(290): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(285): Show |
2 | a0001c0001t0002g0162a0006c0015t0002g0188 | 2 | HG01071.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(294): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(382): Show |
1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(391): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(285): Show |
1 | a0001c0002t0017g0215 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(294): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(281): Show |
13 | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0122others(10): Show | 13 | HG00099.hp1 HG01346.hp1 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(290): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(277): Show |
1 | a0001c0002t0002g0204 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(286): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(277): Show |
1 | a0015c0043t0007g0149 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(286): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(273): Show |
6 | a0001c0002t0002g0230a0001c0002t0002g0234a0001c0002t0002g0235others(3): Show | 6 | HG01255.hp2 HG01934.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(282): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(382): Show |
5 | a0001c0020t0001g0176a0001c0026t0056g0071a0003c0008t0005g0177others(2): Show | 5 | HG01109.hp2 HG01175.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(391): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(386): Show |
1 | a0003c0008t0006g0094 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(395): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(269): Show |
2 | a0002c0032t0013g0224a0006c0012t0003g0013 | 2 | HG02698.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(278): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(273): Show |
4 | a0001c0001t0050g0153a0001c0002t0007g0196a0001c0002t0007g0218others(1): Show | 4 | HG02080.hp2 HG02257.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(282): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(277): Show |
1 | a0001c0002t0003g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(286): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(379): Show |
1 | a0001c0014t0012g0126 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(388): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(378): Show |
1 | a0003c0024t0005g0174 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(387): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(277): Show |
15 | a0001c0002t0002g0189a0001c0002t0002g0192a0001c0002t0002g0193others(12): Show | 15 | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(286): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(277): Show |
1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(286): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(282): Show |
1 | a0001c0002t0003g0222 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(291): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(281): Show |
4 | a0001c0001t0003g0151a0001c0001t0003g0152a0004c0006t0014g0208others(1): Show | 4 | HG00280.hp2 HG01261.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.482+1368_482+1369i others(290): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(285): Show |
1 | a0001c0002t0045g0195 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(294): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(269): Show |
3 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105 | 3 | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(278): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(269): Show |
1 | a0001c0009t0004g0132 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(278): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(142): Show |
1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+1368_482+1369i others(151): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(372): Show |
1 | a0005c0007t0006g0096 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.482+1368_482+1369i others(381): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCCTCC others(106): Show |
2 | a0002c0003t0001g0106a0019c0040t0033g0076 | 2 | HG00639.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.482+1368_482+1369i others(115): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(130): Show |
6 | a0001c0014t0001g0045a0002c0003t0001g0048a0002c0003t0001g0049others(3): Show | 6 | HG02145.hp1 HG02280.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+1379_482+1380i others(139): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(134): Show |
32 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0036g0086others(29): Show | 32 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(29): Show |
intron_variant | MODIFIER | c.482+1379_482+1380i others(143): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(134): Show |
3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.482+1379_482+1380i others(143): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(301): Show |
1 | a0001c0002t0004g0184 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.482+1379_482+1380i others(310): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(297): Show |
1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.482+1379_482+1380i others(306): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(301): Show |
1 | a0001c0002t0003g0219 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.482+1379_482+1380i others(310): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(294): Show |
1 | a0001c0002t0002g0210 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.482+1379_482+1380i others(303): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(293): Show |
1 | a0001c0002t0004g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.482+1379_482+1380i others(302): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(134): Show |
2 | a0002c0031t0003g0080a0002c0031t0003g0081 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.482+1379_482+1380i others(143): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | CTCCTTCC others(134): Show |
1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.482+1379_482+1380i others(143): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602018 | |||||
| chr22:39602018
|
C | T | 43 | a0001c0001t0003g0165a0001c0001t0004g0133a0001c0001t0009g0134others(40): Show | 43 | HG00140.hp2 HG01099.hp2 HG01106.hp1 others(40): Show |
intron_variant | MODIFIER | c.482+1365C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602018 | ||||||
| chr22:39602032
|
C | CCCTCCCT others(19): Show |
8 | a0001c0001t0052g0075a0001c0034t0028g0102a0005c0007t0006g0112others(5): Show | 8 | HG02257.hp1 HG02559.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.482+1379_482+1380i others(28): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602032 | ||||||
| chr22:39602049
|
G | GCCCGCCC others(54): Show |
6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+1399_482+1400i others(63): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602049 | |||||
| chr22:39602049
|
G | GCCCGCCC others(58): Show |
2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.482+1399_482+1400i others(67): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602049 | |||||
| chr22:39602049
|
G | GCCCT | 23 | a0001c0002t0004g0232a0001c0002t0014g0226a0001c0002t0031g0200others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.482+1413_482+1416d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39602049 | |||||
| chr22:39602125
|
G | C | 1 | a0001c0001t0008g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.482+1472G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602125 | ||||||
| chr22:39602136
|
G | A | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.482+1483G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602136 | ||||||
| chr22:39602340
|
G | A | 1 | a0004c0004t0035g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.482+1687G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602340 | ||||||
| chr22:39602501
|
C | T | 23 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.482+1848C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602501 | ||||||
| chr22:39602536
|
G | C | 1 | a0001c0002t0014g0226 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.482+1883G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602536 | ||||||
| chr22:39602553
|
G | GA | 209 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(206): Show | 209 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
intron_variant | MODIFIER | c.482+1900_482+1901i others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602553 | ||||||
| chr22:39602554
|
T | A | 3 | a0001c0018t0002g0158a0002c0003t0009g0054a0012c0021t0022g0072 | 3 | HG00140.hp2 HG01517.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.482+1901T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602554 | ||||||
| chr22:39602563
|
A | T | 1 | a0012c0021t0022g0072 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.482+1910A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602563 | ||||||
| chr22:39602585
|
T | G | 3 | a0001c0009t0002g0009a0014c0033t0002g0078a0020c0042t0005g0077 | 3 | HG02486.hp1 HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.482+1932T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602585 | ||||||
| chr22:39602603
|
C | A | 1 | a0011c0029t0020g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.482+1950C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602603 | ||||||
| chr22:39602744
|
T | G | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+2091T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39602744 | ||||||
| chr22:39603008
|
A | G | 120 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(117): Show |
intron_variant | MODIFIER | c.482+2355A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603008 | ||||||
| chr22:39603151
|
C | CA | 87 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(84): Show | 87 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
intron_variant | MODIFIER | c.482+2513dupA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39603151 | |||||
| chr22:39603151
|
C | CAA | 24 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01261.hp1 others(21): Show |
intron_variant | MODIFIER | c.482+2512_482+2513d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39603151 | |||||
| chr22:39603151
|
CA | C | 8 | a0001c0001t0003g0041a0001c0001t0021g0039a0001c0001t0021g0040others(5): Show | 8 | HG02155.hp2 HG03491.hp1 HG03492.hp1 others(5): Show |
intron_variant | MODIFIER | c.482+2513delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39603151 | |||||
| chr22:39603183
|
C | T | 2 | a0009c0016t0005g0108a0009c0016t0055g0109 | 2 | HG03098.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.482+2530C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603183 | ||||||
| chr22:39603279
|
C | A | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+2626C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603279 | ||||||
| chr22:39603291
|
T | C | 1 | a0002c0003t0009g0054 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.482+2638T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603291 | ||||||
| chr22:39603354
|
G | T | 11 | a0001c0001t0004g0107a0001c0027t0015g0092a0002c0013t0001g0140others(8): Show | 11 | HG02818.hp1 HG02895.hp2 HG02897.hp2 others(8): Show |
intron_variant | MODIFIER | c.482+2701G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603354 | ||||||
| chr22:39603836
|
A | G | 1 | a0002c0003t0012g0002 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.482+3183A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603836 | ||||||
| chr22:39603907
|
A | G | 2 | a0001c0001t0003g0114a0001c0001t0046g0115 | 2 | HG00544.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.482+3254A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603907 | ||||||
| chr22:39603943
|
A | G | 2 | a0002c0032t0013g0224a0006c0012t0003g0013 | 2 | HG02698.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.482+3290A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603943 | ||||||
| chr22:39603951
|
G | A | 14 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+3298G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39603951 | ||||||
| chr22:39604216
|
G | T | 78 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(75): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.482+3563G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604216 | ||||||
| chr22:39604308
|
T | C | 134 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(131): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.482+3655T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604308 | ||||||
| chr22:39604437
|
G | A | 34 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(31): Show | 34 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(31): Show |
intron_variant | MODIFIER | c.482+3784G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604437 | ||||||
| chr22:39604609
|
A | G | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+3956A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604609 | ||||||
| chr22:39604653
|
C | T | 6 | a0001c0001t0004g0107a0002c0013t0001g0140a0002c0013t0029g0164others(3): Show | 6 | HG02818.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+4000C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604653 | ||||||
| chr22:39604717
|
T | G | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.482+4064T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604717 | ||||||
| chr22:39604738
|
C | T | 1 | a0001c0022t0032g0030 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.482+4085C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604738 | ||||||
| chr22:39604744
|
A | AT | 6 | a0001c0002t0004g0197a0001c0009t0003g0103a0001c0018t0002g0157others(3): Show | 6 | HG00642.hp2 HG01175.hp1 HG01515.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+4105dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39604744 | |||||
| chr22:39604837
|
T | C | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+4184T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39604837 | ||||||
| chr22:39605078
|
A | G | 121 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(118): Show | 121 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.482+4425A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605078 | ||||||
| chr22:39605146
|
G | A | 14 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+4493G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605146 | ||||||
| chr22:39605154
|
G | A | 1 | a0001c0001t0050g0153 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.482+4501G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605154 | ||||||
| chr22:39605182
|
C | T | 1 | a0001c0001t0003g0151 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.482+4529C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605182 | ||||||
| chr22:39605268
|
G | A | 3 | a0001c0009t0002g0009a0014c0033t0002g0078a0020c0042t0005g0077 | 3 | HG02486.hp1 HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.482+4615G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605268 | ||||||
| chr22:39605469
|
C | CCATT | 3 | a0001c0002t0004g0232a0001c0020t0001g0146a0001c0051t0001g0194 | 3 | HG02109.hp1 HG02280.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.482+4839_482+4842d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39605469 | |||||
| chr22:39605591
|
C | T | 7 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(4): Show | 7 | HG01975.hp1 HG02257.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.482+4938C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605591 | ||||||
| chr22:39605754
|
C | T | 1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.482+5101C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39605754 | ||||||
| chr22:39606103
|
T | C | 26 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(23): Show | 26 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.482+5450T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606103 | ||||||
| chr22:39606205
|
T | C | 234 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(231): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
intron_variant | MODIFIER | c.482+5552T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606205 | ||||||
| chr22:39606229
|
G | A | 14 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+5576G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606229 | ||||||
| chr22:39606381
|
C | T | 1 | a0003c0008t0006g0084 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.482+5728C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606381 | ||||||
| chr22:39606459
|
G | A | 1 | a0001c0030t0004g0138 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.482+5806G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606459 | ||||||
| chr22:39606565
|
T | C | 134 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(131): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.482+5912T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606565 | ||||||
| chr22:39606608
|
CTACA | C | 7 | a0001c0001t0005g0007a0002c0003t0001g0106a0002c0003t0004g0005others(4): Show | 7 | HG00639.hp1 HG02615.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.482+5956_482+5959d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606608 | ||||||
| chr22:39606720
|
C | T | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+6067C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606720 | ||||||
| chr22:39606931
|
G | A | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.482+6278G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606931 | ||||||
| chr22:39606948
|
C | T | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.482+6295C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39606948 | ||||||
| chr22:39607262
|
T | C | 121 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(118): Show | 121 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.482+6609T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607262 | ||||||
| chr22:39607294
|
A | G | 1 | a0002c0003t0009g0014 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.482+6641A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607294 | ||||||
| chr22:39607304
|
C | A | 94 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(91): Show | 94 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(91): Show |
intron_variant | MODIFIER | c.482+6651C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607304 | ||||||
| chr22:39607487
|
G | T | 1 | a0001c0018t0002g0157 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.482+6834G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607487 | ||||||
| chr22:39607488
|
T | G | 1 | a0001c0018t0002g0157 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.482+6835T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607488 | ||||||
| chr22:39607895
|
C | CG | 18 | a0001c0001t0004g0107a0001c0002t0007g0229a0001c0002t0045g0195others(15): Show | 18 | HG01099.hp1 HG01106.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.482+7251dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39607895 | |||||
| chr22:39607895
|
C | CGG | 83 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(80): Show | 83 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(80): Show |
intron_variant | MODIFIER | c.482+7250_482+7251d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39607895 | |||||
| chr22:39607980
|
C | T | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.482+7327C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39607980 | ||||||
| chr22:39608116
|
CA | C | 59 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(56): Show | 59 | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.482+7485delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39608116 | |||||
| chr22:39608116
|
CAA | C | 125 | a0001c0001t0003g0023a0001c0001t0003g0151a0001c0001t0003g0173others(122): Show | 125 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.482+7484_482+7485d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39608116 | |||||
| chr22:39608116
|
CAAA | C | 20 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0008g0008others(17): Show | 20 | HG00733.hp2 HG01109.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.482+7483_482+7485d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39608116 | |||||
| chr22:39608169
|
G | T | 6 | a0001c0009t0007g0135a0001c0026t0051g0169a0001c0027t0015g0136others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.482+7516G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608169 | ||||||
| chr22:39608226
|
G | A | 1 | a0001c0014t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.482+7573G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608226 | ||||||
| chr22:39608443
|
AT | A | 3 | a0001c0018t0002g0157a0002c0013t0012g0137a0005c0007t0006g0097 | 3 | HG01515.hp2 HG01884.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.482+7796delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39608443 | |||||
| chr22:39608465
|
T | C | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+7812T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608465 | ||||||
| chr22:39608604
|
C | T | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.482+7951C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608604 | ||||||
| chr22:39608623
|
G | A | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.482+7970G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608623 | ||||||
| chr22:39608777
|
G | C | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+8124G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608777 | ||||||
| chr22:39608869
|
G | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+8216G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39608869 | ||||||
| chr22:39609084
|
G | GCCT | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.482+8434_482+8436d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39609084 | |||||
| chr22:39609224
|
G | T | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+8571G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609224 | ||||||
| chr22:39609370
|
A | G | 1 | a0001c0002t0002g0206 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.482+8717A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609370 | ||||||
| chr22:39609420
|
T | C | 90 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0007others(87): Show | 90 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(87): Show |
intron_variant | MODIFIER | c.482+8767T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609420 | ||||||
| chr22:39609461
|
G | C | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.482+8808G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609461 | ||||||
| chr22:39609567
|
G | C | 1 | a0001c0001t0007g0141 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.482+8914G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609567 | ||||||
| chr22:39609615
|
C | T | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.482+8962C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609615 | ||||||
| chr22:39609616
|
G | A | 14 | a0001c0001t0005g0050a0001c0001t0005g0118a0001c0001t0005g0119others(11): Show | 14 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.482+8963G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609616 | ||||||
| chr22:39609639
|
A | C | 1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.482+8986A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609639 | ||||||
| chr22:39609678
|
G | A | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+9025G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609678 | ||||||
| chr22:39609687
|
G | T | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.482+9034G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609687 | ||||||
| chr22:39609789
|
C | G | 6 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0014t0030g0129others(3): Show | 6 | HG02109.hp1 HG02622.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.482+9136C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609789 | ||||||
| chr22:39609849
|
G | A | 3 | a0004c0006t0014g0207a0004c0006t0018g0178a0004c0006t0042g0181 | 3 | HG00733.hp2 HG01169.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.482+9196G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609849 | ||||||
| chr22:39609939
|
A | G | 2 | a0002c0003t0001g0106a0019c0040t0033g0076 | 2 | HG00639.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.482+9286A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609939 | ||||||
| chr22:39609949
|
C | A | 2 | a0002c0003t0001g0106a0019c0040t0033g0076 | 2 | HG00639.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.482+9296C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39609949 | ||||||
| chr22:39610019
|
G | T | 78 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(75): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.483-9291G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610019 | ||||||
| chr22:39610030
|
G | T | 78 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(75): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.483-9280G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610030 | ||||||
| chr22:39610105
|
G | A | 4 | a0001c0001t0052g0075a0003c0017t0005g0088a0003c0017t0005g0089others(1): Show | 4 | HG02559.hp2 HG03579.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.483-9205G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610105 | ||||||
| chr22:39610191
|
T | G | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-9119T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610191 | ||||||
| chr22:39610621
|
T | C | 120 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0004g0107others(117): Show | 120 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(117): Show |
intron_variant | MODIFIER | c.483-8689T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610621 | ||||||
| chr22:39610690
|
G | A | 4 | a0001c0001t0002g0117a0001c0001t0003g0114a0001c0001t0003g0116others(1): Show | 4 | HG00544.hp1 NA18612.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.483-8620G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610690 | ||||||
| chr22:39610786
|
C | T | 3 | a0001c0001t0003g0160a0001c0001t0048g0128a0001c0046t0003g0185 | 3 | HG03704.hp2 HG03942.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.483-8524C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610786 | ||||||
| chr22:39610981
|
C | G | 78 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(75): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.483-8329C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39610981 | ||||||
| chr22:39611024
|
C | T | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-8286C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39611024 | ||||||
| chr22:39611063
|
G | A | 13 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(10): Show | 13 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(10): Show |
intron_variant | MODIFIER | c.483-8247G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39611063 | ||||||
| chr22:39611127
|
G | C | 23 | a0001c0002t0004g0232a0001c0002t0031g0200a0001c0009t0007g0135others(20): Show | 23 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.483-8183G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39611127 | ||||||
| chr22:39611457
|
A | C | 1 | a0004c0004t0058g0070 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.483-7853A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39611457 | ||||||
| chr22:39611858
|
C | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-7452C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39611858 | ||||||
| chr22:39612050
|
AAC | A | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.483-7258_483-7257d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39612050 | |||||
| chr22:39612229
|
G | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-7081G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612229 | ||||||
| chr22:39612353
|
G | C | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-6957G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612353 | ||||||
| chr22:39612476
|
G | A | 4 | a0004c0004t0018g0003a0004c0004t0019g0021a0004c0004t0019g0022others(1): Show | 4 | HG00642.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.483-6834G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612476 | ||||||
| chr22:39612578
|
G | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.483-6732G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612578 | ||||||
| chr22:39612581
|
G | T | 2 | a0002c0032t0013g0224a0006c0012t0003g0013 | 2 | HG02698.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.483-6729G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612581 | ||||||
| chr22:39612729
|
A | G | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.483-6581A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612729 | ||||||
| chr22:39612821
|
T | C | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-6489T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612821 | ||||||
| chr22:39612874
|
C | T | 1 | a0001c0001t0008g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.483-6436C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39612874 | ||||||
| chr22:39613331
|
C | T | 115 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(112): Show | 115 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.483-5979C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613331 | ||||||
| chr22:39613439
|
G | A | 7 | a0001c0009t0007g0135a0001c0022t0010g0004a0001c0026t0051g0169others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.483-5871G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613439 | ||||||
| chr22:39613565
|
C | T | 1 | a0005c0007t0006g0100 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.483-5745C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613565 | ||||||
| chr22:39613575
|
C | A | 27 | a0001c0001t0003g0023a0002c0003t0001g0001a0002c0003t0001g0020others(24): Show | 27 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.483-5735C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613575 | ||||||
| chr22:39613649
|
G | C | 1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.483-5661G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613649 | ||||||
| chr22:39613713
|
G | T | 1 | a0001c0002t0017g0215 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.483-5597G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613713 | ||||||
| chr22:39613724
|
C | G | 1 | a0001c0002t0004g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.483-5586C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613724 | ||||||
| chr22:39613758
|
G | A | 1 | a0002c0013t0029g0164 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.483-5552G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613758 | ||||||
| chr22:39613841
|
CT | C | 213 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.483-5456delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39613841 | |||||
| chr22:39613844
|
T | C | 1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.483-5466T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613844 | ||||||
| chr22:39613983
|
G | A | 1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.483-5327G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39613983 | ||||||
| chr22:39614046
|
C | A | 5 | a0001c0009t0003g0103a0001c0009t0004g0132a0001c0009t0007g0104others(2): Show | 5 | HG02055.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.483-5264C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614046 | ||||||
| chr22:39614143
|
G | A | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.483-5167G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614143 | ||||||
| chr22:39614205
|
T | C | 2 | a0004c0004t0043g0064a0016c0045t0002g0220 | 2 | HG01361.hp2 HG01975.hp1 |
intron_variant | MODIFIER | c.483-5105T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614205 | ||||||
| chr22:39614326
|
A | G | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.483-4984A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614326 | ||||||
| chr22:39614378
|
G | A | 68 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(65): Show | 68 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.483-4932G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614378 | ||||||
| chr22:39614516
|
G | A | 62 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(59): Show | 62 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(59): Show |
intron_variant | MODIFIER | c.483-4794G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614516 | ||||||
| chr22:39614631
|
T | A | 118 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(115): Show | 118 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.483-4679T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614631 | ||||||
| chr22:39614677
|
G | A | 64 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(61): Show | 64 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(61): Show |
intron_variant | MODIFIER | c.483-4633G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614677 | ||||||
| chr22:39614801
|
C | T | 66 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(63): Show | 66 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(63): Show |
intron_variant | MODIFIER | c.483-4509C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614801 | ||||||
| chr22:39614881
|
C | T | 6 | a0001c0001t0004g0107a0002c0013t0001g0140a0002c0013t0029g0164others(3): Show | 6 | HG02818.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.483-4429C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39614881 | ||||||
| chr22:39615027
|
C | T | 3 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148 | 3 | HG00609.hp1 NA18954.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.483-4283C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615027 | ||||||
| chr22:39615236
|
C | G | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.483-4074C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615236 | ||||||
| chr22:39615248
|
G | C | 2 | a0004c0004t0043g0064a0016c0045t0002g0220 | 2 | HG01361.hp2 HG01975.hp1 |
intron_variant | MODIFIER | c.483-4062G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615248 | ||||||
| chr22:39615268
|
G | A | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.483-4042G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615268 | ||||||
| chr22:39615268
|
G | T | 118 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(115): Show | 118 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(115): Show |
intron_variant | MODIFIER | c.483-4042G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615268 | ||||||
| chr22:39615645
|
G | A | 1 | a0004c0006t0014g0207 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.483-3665G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615645 | ||||||
| chr22:39615692
|
A | C | 211 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(208): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.483-3618A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615692 | ||||||
| chr22:39615901
|
A | G | 8 | a0001c0001t0003g0165a0001c0002t0002g0189a0001c0002t0002g0206others(5): Show | 8 | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(5): Show |
intron_variant | MODIFIER | c.483-3409A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615901 | ||||||
| chr22:39615978
|
A | G | 25 | a0001c0001t0004g0107a0001c0001t0057g0067a0001c0014t0012g0126others(22): Show | 25 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.483-3332A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39615978 | ||||||
| chr22:39616279
|
G | A | 68 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(65): Show | 68 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.483-3031G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616279 | ||||||
| chr22:39616282
|
A | C | 1 | a0002c0044t0026g0155 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.483-3028A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616282 | ||||||
| chr22:39616503
|
G | A | 186 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(183): Show | 186 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
intron_variant | MODIFIER | c.483-2807G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616503 | ||||||
| chr22:39616610
|
C | A | 3 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105 | 3 | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.483-2700C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616610 | ||||||
| chr22:39616671
|
G | A | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.483-2639G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616671 | ||||||
| chr22:39616764
|
CA | C | 127 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(124): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.483-2523delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616764 | |||||
| chr22:39616764
|
CAA | C | 9 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091others(6): Show | 9 | HG01109.hp1 HG02818.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.483-2524_483-2523d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616764 | |||||
| chr22:39616764
|
CAAA | C | 14 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(11): Show | 14 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.483-2525_483-2523d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616764 | |||||
| chr22:39616770
|
AAAAAAAA others(11): Show |
A | 1 | a0006c0012t0004g0031 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.483-2535_483-2518d others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616770 | |||||
| chr22:39616771
|
AAAAAAAA others(10): Show |
A | 59 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(56): Show | 59 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(56): Show |
intron_variant | MODIFIER | c.483-2534_483-2518d others(19): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616771 | |||||
| chr22:39616772
|
AAAAAAAA others(9): Show |
A | 2 | a0002c0003t0001g0027a0012c0021t0022g0072 | 2 | HG02293.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.483-2533_483-2518d others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39616772 | |||||
| chr22:39616780
|
A | G | 115 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(112): Show | 115 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.483-2530A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616780 | ||||||
| chr22:39616783
|
A | G | 1 | a0002c0013t0029g0164 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.483-2527A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616783 | ||||||
| chr22:39616859
|
C | T | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.483-2451C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616859 | ||||||
| chr22:39616927
|
G | A | 13 | a0001c0001t0057g0067a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.483-2383G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39616927 | ||||||
| chr22:39617211
|
A | G | 191 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(188): Show | 191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.483-2099A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39617211 | ||||||
| chr22:39617489
|
G | C | 5 | a0003c0005t0054g0066a0004c0006t0014g0207a0004c0006t0014g0208others(2): Show | 5 | HG00733.hp2 HG01169.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.483-1821G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39617489 | ||||||
| chr22:39617679
|
G | A | 31 | a0001c0001t0004g0107a0001c0002t0004g0232a0001c0002t0031g0200others(28): Show | 31 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.483-1631G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39617679 | ||||||
| chr22:39617862
|
A | T | 72 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(69): Show | 72 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.483-1448A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39617862 | ||||||
| chr22:39617951
|
C | A | 1 | a0003c0005t0008g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.483-1359C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39617951 | ||||||
| chr22:39618061
|
G | A | 45 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(42): Show | 45 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(42): Show |
intron_variant | MODIFIER | c.483-1249G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618061 | ||||||
| chr22:39618171
|
CTGTG | C | 3 | a0003c0005t0053g0142a0003c0017t0005g0088a0003c0017t0005g0089 | 3 | HG02145.hp2 NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.483-1132_483-1129d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39618171 | |||||
| chr22:39618179
|
G | A | 1 | a0001c0002t0004g0232 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.483-1131G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618179 | ||||||
| chr22:39618232
|
CAGGTGTG others(13): Show |
C | 46 | a0001c0001t0003g0023a0001c0001t0007g0038a0001c0014t0001g0045others(43): Show | 46 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
intron_variant | MODIFIER | c.483-1077_483-1058d others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618232 | ||||||
| chr22:39618251
|
CTG | C | 166 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(163): Show | 166 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(163): Show |
intron_variant | MODIFIER | c.483-1046_483-1045d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39618251 | |||||
| chr22:39618253
|
G | C | 46 | a0001c0001t0003g0023a0001c0001t0007g0038a0001c0014t0001g0045others(43): Show | 46 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
intron_variant | MODIFIER | c.483-1057G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618253 | ||||||
| chr22:39618277
|
C | CTG | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-1024_483-1023d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39618277 | |||||
| chr22:39618289
|
C | CTG | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-1014_483-1013d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | 39618289 | |||||
| chr22:39618364
|
C | T | 15 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(12): Show | 15 | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.483-946C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618364 | ||||||
| chr22:39618418
|
C | T | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-892C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618418 | ||||||
| chr22:39618555
|
C | G | 1 | a0017c0036t0001g0043 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.483-755C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618555 | ||||||
| chr22:39618579
|
A | G | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-731A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618579 | ||||||
| chr22:39618593
|
C | T | 1 | a0002c0003t0001g0106 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.483-717C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618593 | ||||||
| chr22:39618705
|
C | A | 8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.483-605C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618705 | ||||||
| chr22:39618738
|
G | C | 1 | a0001c0001t0004g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.483-572G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618738 | ||||||
| chr22:39618778
|
G | C | 212 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(209): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.483-532G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618778 | ||||||
| chr22:39618946
|
T | C | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.483-364T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618946 | ||||||
| chr22:39618947
|
G | A | 1 | a0002c0019t0001g0029 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.483-363G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39618947 | ||||||
| chr22:39619054
|
T | C | 66 | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0007g0038others(63): Show | 66 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(63): Show |
intron_variant | MODIFIER | c.483-256T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39619054 | ||||||
| chr22:39619224
|
G | A | 2 | a0004c0004t0019g0021a0004c0004t0019g0022 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.483-86G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39619224 | ||||||
| chr22:39619250
|
C | G | 1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.483-60C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | 39619250 | ||||||
| chr22:39619488
|
C | T | 109 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(106): Show | 109 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
intron_variant | MODIFIER | c.580+81C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39619488 | ||||||
| chr22:39619652
|
T | C | 169 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(166): Show | 169 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(166): Show |
intron_variant | MODIFIER | c.580+245T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39619652 | ||||||
| chr22:39619960
|
C | T | 1 | a0001c0002t0007g0229 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.580+553C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39619960 | ||||||
| chr22:39619961
|
G | GTCCA | 11 | a0001c0001t0052g0075a0001c0014t0012g0126a0001c0020t0001g0176others(8): Show | 11 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.580+577_580+580dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39619961 | |||||
| chr22:39619961
|
GTCCA | G | 4 | a0001c0001t0002g0162a0001c0001t0038g0161a0001c0002t0004g0190others(1): Show | 4 | HG00733.hp1 HG01071.hp2 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.580+577_580+580del others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39619961 | |||||
| chr22:39620009
|
G | GTCCATCC others(9): Show |
1 | a0003c0008t0006g0124 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.580+604_580+605ins others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620009 | |||||
| chr22:39620012
|
T | C | 2 | a0001c0001t0008g0008a0003c0008t0006g0124 | 2 | HG02965.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.580+605T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620012 | ||||||
| chr22:39620012
|
T | TATCC | 46 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0003g0041others(43): Show | 46 | HG00408.hp1 HG00639.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.580+643_580+646dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
T | TATCCATC others(1): Show |
61 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148others(58): Show | 61 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.580+639_580+646dup others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
T | TATCCATC others(5): Show |
32 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0001t0003g0160others(29): Show | 32 | HG00733.hp1 HG01106.hp1 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.580+635_580+646dup others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
T | TATCCATC others(9): Show |
11 | a0001c0001t0005g0007a0001c0001t0005g0118a0001c0001t0005g0119others(8): Show | 11 | HG00323.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.580+631_580+646dup others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
T | TATCCATC others(13): Show |
2 | a0001c0001t0008g0139a0002c0013t0012g0137 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.580+627_580+646dup others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
TATCC | T | 6 | a0002c0003t0001g0048a0002c0013t0029g0164a0003c0005t0005g0056others(3): Show | 6 | HG01109.hp1 HG02818.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.580+643_580+646del others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620012
|
TATCCATC others(1): Show |
T | 2 | a0001c0026t0056g0071a0002c0013t0001g0140 | 2 | HG01109.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.580+639_580+646del others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620012 | |||||
| chr22:39620065
|
A | G | 167 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(164): Show | 167 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(164): Show |
intron_variant | MODIFIER | c.580+658A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620065 | ||||||
| chr22:39620140
|
C | T | 1 | a0001c0001t0039g0121 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.580+733C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620140 | ||||||
| chr22:39620146
|
C | T | 2 | a0011c0029t0020g0082a0011c0029t0020g0083 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.580+739C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620146 | ||||||
| chr22:39620150
|
TCCATCCA others(5): Show |
T | 1 | a0001c0001t0048g0128 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.580+751_580+762del others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620150 | |||||
| chr22:39620162
|
C | CCCAT | 128 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(125): Show | 128 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.580+771_580+774dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620162 | |||||
| chr22:39620162
|
CCCAT | C | 8 | a0001c0001t0036g0086a0001c0002t0004g0232a0001c0002t0031g0200others(5): Show | 8 | HG01884.hp1 HG02109.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.580+771_580+774del others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620162 | |||||
| chr22:39620237
|
G | GTCCA | 4 | a0001c0002t0004g0232a0002c0003t0001g0051a0003c0005t0005g0055others(1): Show | 4 | HG03041.hp2 HG03453.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.580+868_580+871dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620237 | |||||
| chr22:39620237
|
GTCCA | G | 19 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(16): Show | 19 | HG01243.hp1 HG01496.hp2 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.580+868_580+871del others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620237 | |||||
| chr22:39620237
|
GTCCATCC others(1): Show |
G | 9 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.580+864_580+871del others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620237 | |||||
| chr22:39620237
|
GTCCATCC others(5): Show |
G | 36 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(33): Show | 36 | HG00544.hp1 HG00609.hp1 HG00733.hp2 others(33): Show |
intron_variant | MODIFIER | c.580+860_580+871del others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620237 | |||||
| chr22:39620245
|
A | G | 1 | a0022c0037t0041g0166 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.580+838A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620245 | ||||||
| chr22:39620269
|
ATCCATCC others(5): Show |
A | 91 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(88): Show | 91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.580+864_580+875del others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620269 | |||||
| chr22:39620273
|
ATCCATAC others(1): Show |
A | 3 | a0001c0001t0057g0067a0001c0002t0004g0190a0024c0035t0044g0167 | 3 | HG00733.hp1 HG01099.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.580+868_580+875del others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620273 | |||||
| chr22:39620275
|
C | A | 26 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(23): Show | 26 | HG00544.hp1 HG00609.hp1 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.580+868C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620275 | ||||||
| chr22:39620275
|
C | CCATA | 6 | a0001c0001t0036g0086a0001c0014t0030g0129a0001c0023t0010g0113others(3): Show | 6 | HG01884.hp1 HG02109.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.580+870_580+873dup others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620275 | |||||
| chr22:39620281
|
G | A | 59 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(56): Show | 59 | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.580+874G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620281 | ||||||
| chr22:39620697
|
G | A | 13 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(10): Show | 13 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(10): Show |
intron_variant | MODIFIER | c.580+1290G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620697 | ||||||
| chr22:39620730
|
T | G | 23 | a0001c0001t0003g0041a0001c0001t0003g0165a0001c0001t0004g0133others(20): Show | 23 | HG00639.hp1 HG01099.hp2 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.580+1323T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620730 | ||||||
| chr22:39620733
|
G | T | 2 | a0002c0003t0001g0159a0004c0004t0059g0058 | 2 | HG01993.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.580+1326G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620733 | ||||||
| chr22:39620762
|
G | T | 7 | a0001c0001t0036g0086a0001c0002t0004g0232a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02622.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.580+1355G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620762 | ||||||
| chr22:39620762
|
GTTTT | G | 79 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(76): Show | 79 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.580+1360_580+1363d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39620762 | |||||
| chr22:39620766
|
T | G | 26 | a0001c0001t0046g0115a0001c0014t0012g0126a0001c0020t0001g0176others(23): Show | 26 | HG00544.hp1 HG00639.hp1 HG00639.hp2 others(23): Show |
intron_variant | MODIFIER | c.580+1359T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620766 | ||||||
| chr22:39620909
|
C | A | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.580+1502C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39620909 | ||||||
| chr22:39621060
|
C | G | 156 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(153): Show | 156 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(153): Show |
intron_variant | MODIFIER | c.580+1653C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621060 | ||||||
| chr22:39621073
|
A | G | 1 | a0004c0004t0035g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.580+1666A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621073 | ||||||
| chr22:39621185
|
G | T | 1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.580+1778G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621185 | ||||||
| chr22:39621276
|
G | A | 6 | a0001c0034t0028g0102a0005c0007t0006g0112a0009c0016t0005g0108others(3): Show | 6 | HG02257.hp1 HG02965.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.580+1869G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621276 | ||||||
| chr22:39621358
|
T | TA | 152 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(149): Show | 152 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(149): Show |
intron_variant | MODIFIER | c.580+1952dupA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39621358 | |||||
| chr22:39621523
|
A | G | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.580+2116A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621523 | ||||||
| chr22:39621858
|
G | A | 4 | a0001c0001t0008g0008a0002c0003t0004g0005a0002c0003t0004g0006others(1): Show | 4 | HG02965.hp2 HG03209.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.580+2451G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621858 | ||||||
| chr22:39621981
|
C | T | 9 | a0003c0005t0008g0044a0003c0005t0008g0171a0005c0007t0006g0096others(6): Show | 9 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.580+2574C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39621981 | ||||||
| chr22:39622140
|
C | T | 2 | a0011c0029t0020g0082a0011c0029t0020g0083 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.580+2733C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622140 | ||||||
| chr22:39622207
|
T | C | 96 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(93): Show | 96 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.580+2800T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622207 | ||||||
| chr22:39622273
|
C | T | 29 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(26): Show | 29 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.580+2866C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622273 | ||||||
| chr22:39622310
|
G | A | 3 | a0004c0006t0014g0207a0004c0006t0014g0208a0004c0006t0018g0178 | 3 | HG00733.hp2 HG01261.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.580+2903G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622310 | ||||||
| chr22:39622400
|
G | A | 1 | a0001c0001t0007g0038 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.580+2993G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622400 | ||||||
| chr22:39622599
|
G | C | 10 | a0001c0001t0036g0086a0001c0002t0031g0200a0001c0014t0030g0129others(7): Show | 10 | HG01884.hp1 HG02109.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.580+3192G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622599 | ||||||
| chr22:39622601
|
G | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.580+3194G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622601 | ||||||
| chr22:39622613
|
G | A | 93 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(90): Show | 93 | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.580+3206G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622613 | ||||||
| chr22:39622675
|
G | A | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.580+3268G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39622675 | ||||||
| chr22:39623034
|
C | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.580+3627C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623034 | ||||||
| chr22:39623093
|
G | A | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.580+3686G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623093 | ||||||
| chr22:39623096
|
C | T | 7 | a0001c0001t0003g0023a0002c0003t0009g0012a0002c0003t0009g0014others(4): Show | 7 | HG00140.hp2 HG01071.hp1 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.580+3689C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623096 | ||||||
| chr22:39623679
|
GGGGTGTG others(9): Show |
G | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.580+4282_580+4297d others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39623679 | |||||
| chr22:39623736
|
G | A | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.580+4329G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623736 | ||||||
| chr22:39623768
|
A | G | 176 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(173): Show | 176 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.580+4361A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623768 | ||||||
| chr22:39623982
|
G | A | 27 | a0001c0022t0010g0004a0001c0023t0010g0113a0001c0023t0010g0130others(24): Show | 27 | HG00733.hp2 HG01109.hp1 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.580+4575G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623982 | ||||||
| chr22:39623989
|
C | T | 101 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(98): Show | 101 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.580+4582C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39623989 | ||||||
| chr22:39624087
|
G | A | 1 | a0005c0007t0006g0101 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.580+4680G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624087 | ||||||
| chr22:39624154
|
G | A | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.580+4747G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624154 | ||||||
| chr22:39624157
|
T | C | 1 | a0005c0007t0006g0112 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.580+4750T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624157 | ||||||
| chr22:39624171
|
T | C | 7 | a0001c0001t0004g0065a0001c0001t0004g0107a0002c0013t0001g0140others(4): Show | 7 | HG01099.hp1 HG01358.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.580+4764T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624171 | ||||||
| chr22:39624204
|
G | T | 1 | a0005c0007t0006g0100 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.580+4797G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624204 | ||||||
| chr22:39624275
|
G | A | 2 | a0014c0033t0002g0078a0020c0042t0005g0077 | 2 | HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.580+4868G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624275 | ||||||
| chr22:39624411
|
C | T | 3 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148 | 3 | HG00609.hp1 NA18954.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.580+5004C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624411 | ||||||
| chr22:39624419
|
G | C | 1 | a0002c0003t0001g0032 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.580+5012G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624419 | ||||||
| chr22:39624448
|
G | A | 1 | a0002c0003t0025g0028 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.580+5041G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624448 | ||||||
| chr22:39624871
|
A | G | 31 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(28): Show | 31 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.580+5464A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39624871 | ||||||
| chr22:39624908
|
CT | C | 135 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(132): Show | 135 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.580+5519delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39624908 | |||||
| chr22:39624908
|
CTT | C | 5 | a0001c0001t0002g0148a0001c0001t0003g0151a0001c0002t0004g0198others(2): Show | 5 | HG01516.hp2 HG01517.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.580+5518_580+5519d others(4): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39624908 | |||||
| chr22:39625001
|
C | T | 4 | a0001c0001t0002g0117a0001c0001t0003g0114a0001c0001t0003g0116others(1): Show | 4 | HG00544.hp1 NA18612.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.580+5594C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625001 | ||||||
| chr22:39625064
|
C | A | 2 | a0001c0023t0010g0113a0001c0023t0010g0130 | 2 | HG02622.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.580+5657C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625064 | ||||||
| chr22:39625196
|
G | A | 1 | a0003c0005t0005g0079 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.580+5789G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625196 | ||||||
| chr22:39625251
|
T | A | 169 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(166): Show | 169 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(166): Show |
intron_variant | MODIFIER | c.580+5844T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625251 | ||||||
| chr22:39625582
|
T | C | 2 | a0001c0002t0004g0187a0001c0050t0003g0201 | 2 | NA18969.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.580+6175T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625582 | ||||||
| chr22:39625609
|
T | G | 33 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(30): Show | 33 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.580+6202T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625609 | ||||||
| chr22:39625629
|
C | A | 2 | a0011c0029t0020g0082a0011c0029t0020g0083 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.580+6222C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625629 | ||||||
| chr22:39625718
|
G | A | 2 | a0003c0008t0006g0093a0003c0008t0006g0094 | 2 | HG01496.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.580+6311G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625718 | ||||||
| chr22:39625722
|
A | C | 3 | a0002c0003t0001g0049a0002c0003t0001g0106a0019c0040t0033g0076 | 3 | HG00639.hp1 HG02280.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.580+6315A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625722 | ||||||
| chr22:39625790
|
T | C | 3 | a0001c0027t0015g0092a0002c0025t0001g0090a0002c0025t0001g0091 | 3 | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.580+6383T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625790 | ||||||
| chr22:39625834
|
C | T | 4 | a0001c0001t0021g0039a0001c0001t0021g0040a0003c0008t0006g0084others(1): Show | 4 | HG01109.hp1 HG02818.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.580+6427C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625834 | ||||||
| chr22:39625850
|
C | A | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.580+6443C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39625850 | ||||||
| chr22:39626201
|
C | T | 2 | a0002c0019t0001g0029a0002c0019t0001g0036 | 2 | HG01175.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.580+6794C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626201 | ||||||
| chr22:39626377
|
G | A | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.580+6970G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626377 | ||||||
| chr22:39626512
|
G | A | 22 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(19): Show | 22 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.580+7105G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626512 | ||||||
| chr22:39626688
|
C | T | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.580+7281C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626688 | ||||||
| chr22:39626862
|
C | G | 1 | a0001c0002t0003g0222 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.580+7455C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626862 | ||||||
| chr22:39626922
|
T | C | 2 | a0001c0001t0002g0123a0001c0001t0003g0122 | 2 | HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.580+7515T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626922 | ||||||
| chr22:39626967
|
T | C | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.580+7560T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626967 | ||||||
| chr22:39626981
|
G | C | 10 | a0001c0001t0036g0086a0001c0002t0031g0200a0001c0014t0030g0129others(7): Show | 10 | HG01884.hp1 HG02109.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.580+7574G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39626981 | ||||||
| chr22:39627005
|
A | G | 7 | a0001c0001t0004g0065a0001c0001t0004g0107a0002c0013t0001g0140others(4): Show | 7 | HG01099.hp1 HG01358.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.581-7560A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627005 | ||||||
| chr22:39627242
|
C | T | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.581-7323C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627242 | ||||||
| chr22:39627385
|
G | C | 1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.581-7180G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627385 | ||||||
| chr22:39627430
|
C | T | 8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.581-7135C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627430 | ||||||
| chr22:39627618
|
G | T | 1 | a0003c0024t0005g0174 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.581-6947G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627618 | ||||||
| chr22:39627631
|
T | C | 7 | a0002c0003t0009g0012a0002c0003t0009g0014a0002c0003t0009g0015others(4): Show | 7 | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.581-6934T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627631 | ||||||
| chr22:39627666
|
G | A | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.581-6899G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39627666 | ||||||
| chr22:39628056
|
A | C | 2 | a0001c0001t0008g0139a0002c0013t0012g0137 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.581-6509A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628056 | ||||||
| chr22:39628151
|
TC | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.581-6413delC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628151 | ||||||
| chr22:39628317
|
C | A | 7 | a0001c0001t0004g0065a0001c0001t0004g0107a0002c0013t0001g0140others(4): Show | 7 | HG01099.hp1 HG01358.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.581-6248C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628317 | ||||||
| chr22:39628371
|
G | A | 1 | a0001c0002t0007g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.581-6194G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628371 | ||||||
| chr22:39628405
|
C | T | 119 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(116): Show | 119 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(116): Show |
intron_variant | MODIFIER | c.581-6160C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628405 | ||||||
| chr22:39628652
|
G | T | 31 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(28): Show | 31 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.581-5913G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628652 | ||||||
| chr22:39628758
|
C | T | 1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.581-5807C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628758 | ||||||
| chr22:39628763
|
C | A | 109 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(106): Show | 109 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
intron_variant | MODIFIER | c.581-5802C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628763 | ||||||
| chr22:39628793
|
G | A | 2 | a0002c0019t0001g0029a0002c0019t0001g0036 | 2 | HG01175.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.581-5772G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628793 | ||||||
| chr22:39628836
|
C | T | 1 | a0001c0001t0039g0121 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.581-5729C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39628836 | ||||||
| chr22:39629039
|
C | T | 30 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(27): Show | 30 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.581-5526C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629039 | ||||||
| chr22:39629046
|
G | A | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.581-5519G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629046 | ||||||
| chr22:39629091
|
C | G | 1 | a0002c0044t0026g0155 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.581-5474C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629091 | ||||||
| chr22:39629217
|
C | T | 1 | a0003c0005t0005g0055 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.581-5348C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629217 | ||||||
| chr22:39629223
|
G | A | 3 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148 | 3 | HG00609.hp1 NA18954.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.581-5342G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629223 | ||||||
| chr22:39629232
|
G | C | 136 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(133): Show | 136 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.581-5333G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629232 | ||||||
| chr22:39629306
|
C | T | 5 | a0001c0022t0010g0004a0001c0027t0015g0136a0003c0005t0005g0170others(2): Show | 5 | HG01891.hp2 HG02895.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.581-5259C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629306 | ||||||
| chr22:39629441
|
T | G | 7 | a0001c0001t0004g0065a0001c0001t0004g0107a0002c0013t0001g0140others(4): Show | 7 | HG01099.hp1 HG01358.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.581-5124T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629441 | ||||||
| chr22:39629532
|
C | CGGCCAGG others(3): Show |
108 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(105): Show | 108 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(105): Show |
intron_variant | MODIFIER | c.581-5021_581-5012d others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39629532 | |||||
| chr22:39629534
|
G | GCCAGGCA others(3): Show |
1 | a0001c0051t0001g0194 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.581-5022_581-5021i others(12): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | 39629534 | |||||
| chr22:39629573
|
C | T | 2 | a0001c0001t0021g0039a0001c0001t0021g0040 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.581-4992C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629573 | ||||||
| chr22:39629581
|
C | G | 1 | a0001c0002t0002g0235 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.581-4984C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629581 | ||||||
| chr22:39629630
|
G | A | 2 | a0001c0023t0010g0113a0001c0023t0010g0130 | 2 | HG02622.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.581-4935G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629630 | ||||||
| chr22:39629667
|
C | T | 3 | a0001c0001t0004g0107a0002c0013t0001g0140a0002c0013t0029g0164 | 3 | HG02922.hp2 HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.581-4898C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629667 | ||||||
| chr22:39629692
|
C | T | 8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.581-4873C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39629692 | ||||||
| chr22:39630029
|
C | T | 30 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(27): Show | 30 | HG00099.hp1 HG00323.hp2 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.581-4536C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630029 | ||||||
| chr22:39630104
|
G | A | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.581-4461G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630104 | ||||||
| chr22:39630136
|
C | A | 109 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(106): Show | 109 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
intron_variant | MODIFIER | c.581-4429C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630136 | ||||||
| chr22:39630304
|
G | A | 109 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(106): Show | 109 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
intron_variant | MODIFIER | c.581-4261G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630304 | ||||||
| chr22:39630502
|
C | T | 2 | a0004c0004t0034g0011a0004c0004t0035g0025 | 2 | HG02683.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.581-4063C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630502 | ||||||
| chr22:39630532
|
T | G | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.581-4033T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630532 | ||||||
| chr22:39630534
|
A | G | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.581-4031A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630534 | ||||||
| chr22:39630586
|
C | T | 3 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105 | 3 | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.581-3979C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630586 | ||||||
| chr22:39630943
|
A | T | 135 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(132): Show | 135 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.581-3622A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39630943 | ||||||
| chr22:39631356
|
A | G | 8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.581-3209A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39631356 | ||||||
| chr22:39631516
|
G | A | 138 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(135): Show | 138 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.581-3049G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39631516 | ||||||
| chr22:39631651
|
T | C | 129 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(126): Show | 129 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.581-2914T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39631651 | ||||||
| chr22:39632076
|
G | C | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.581-2489G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632076 | ||||||
| chr22:39632128
|
C | T | 1 | a0024c0035t0044g0167 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.581-2437C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632128 | ||||||
| chr22:39632190
|
T | C | 128 | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(125): Show | 128 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.581-2375T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632190 | ||||||
| chr22:39632297
|
T | C | 1 | a0001c0002t0003g0222 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.581-2268T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632297 | ||||||
| chr22:39632322
|
G | C | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.581-2243G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632322 | ||||||
| chr22:39632398
|
C | G | 1 | a0001c0001t0005g0125 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.581-2167C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632398 | ||||||
| chr22:39632401
|
C | T | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.581-2164C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632401 | ||||||
| chr22:39632506
|
C | T | 8 | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(5): Show | 8 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(5): Show |
intron_variant | MODIFIER | c.581-2059C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632506 | ||||||
| chr22:39632598
|
G | A | 1 | a0010c0028t0004g0035 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.581-1967G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632598 | ||||||
| chr22:39632984
|
G | T | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.581-1581G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39632984 | ||||||
| chr22:39633279
|
G | C | 1 | a0001c0030t0005g0127 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.581-1286G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633279 | ||||||
| chr22:39633398
|
A | G | 3 | a0002c0003t0001g0048a0002c0003t0001g0051a0002c0003t0010g0047 | 3 | HG02809.hp1 HG03139.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.581-1167A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633398 | ||||||
| chr22:39633446
|
G | T | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.581-1119G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633446 | ||||||
| chr22:39633484
|
C | G | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.581-1081C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633484 | ||||||
| chr22:39633545
|
G | A | 1 | a0001c0001t0003g0165 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.581-1020G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633545 | ||||||
| chr22:39633642
|
CA | C | 6 | a0001c0022t0032g0030a0002c0003t0001g0046a0002c0003t0001g0048others(3): Show | 6 | HG01891.hp1 HG02280.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.581-922delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633642 | ||||||
| chr22:39633741
|
C | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.581-824C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633741 | ||||||
| chr22:39633840
|
G | A | 2 | a0004c0004t0058g0070a0004c0006t0023g0227 | 2 | HG01978.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.581-725G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39633840 | ||||||
| chr22:39634005
|
C | T | 9 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0020t0001g0176others(6): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.581-560C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634005 | ||||||
| chr22:39634026
|
G | A | 1 | a0001c0002t0002g0223 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.581-539G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634026 | ||||||
| chr22:39634093
|
A | G | 1 | a0010c0041t0001g0037 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.581-472A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634093 | ||||||
| chr22:39634276
|
G | A | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.581-289G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634276 | ||||||
| chr22:39634472
|
C | A | 102 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0162others(99): Show | 102 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.581-93C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634472 | ||||||
| chr22:39634515
|
T | C | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.581-50T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | chr22 | 39634515 | ||||||
| chr22:39635045
|
C | T | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.740+321C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635045 | ||||||
| chr22:39635339
|
A | AG | 20 | a0001c0001t0002g0117a0001c0001t0007g0141a0001c0001t0052g0075others(17): Show | 20 | HG00544.hp2 HG00639.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.740+624dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | 39635339 | |||||
| chr22:39635341
|
G | C | 2 | a0001c0001t0038g0161a0002c0003t0001g0144 | 2 | HG01106.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.740+617G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635341 | ||||||
| chr22:39635341
|
G | T | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.740+617G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635341 | ||||||
| chr22:39635342
|
G | T | 1 | a0001c0001t0003g0041 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.740+618G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635342 | ||||||
| chr22:39635355
|
C | T | 2 | a0001c0001t0050g0153a0001c0002t0003g0186 | 2 | HG02080.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.740+631C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635355 | ||||||
| chr22:39635504
|
G | A | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.740+780G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635504 | ||||||
| chr22:39635544
|
G | T | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.740+820G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635544 | ||||||
| chr22:39635614
|
G | A | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.740+890G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635614 | ||||||
| chr22:39635627
|
G | T | 31 | a0001c0001t0002g0060a0001c0001t0002g0145a0001c0001t0002g0147others(28): Show | 31 | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.740+903G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635627 | ||||||
| chr22:39635689
|
G | A | 100 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0162others(97): Show | 100 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(97): Show |
intron_variant | MODIFIER | c.740+965G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635689 | ||||||
| chr22:39635766
|
C | T | 1 | a0001c0001t0009g0134 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.740+1042C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635766 | ||||||
| chr22:39635844
|
T | C | 228 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(225): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.740+1120T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635844 | ||||||
| chr22:39635849
|
C | A | 2 | a0001c0001t0052g0075a0021c0038t0001g0074 | 2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.740+1125C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39635849 | ||||||
| chr22:39636253
|
C | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.740+1529C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636253 | ||||||
| chr22:39636544
|
G | A | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.740+1820G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636544 | ||||||
| chr22:39636660
|
G | A | 1 | a0006c0015t0002g0225 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.740+1936G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636660 | ||||||
| chr22:39636790
|
C | T | 1 | a0001c0030t0005g0127 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.740+2066C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636790 | ||||||
| chr22:39636797
|
T | C | 1 | a0001c0009t0002g0009 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.740+2073T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636797 | ||||||
| chr22:39636872
|
G | A | 24 | a0001c0001t0036g0086a0001c0023t0010g0113a0001c0023t0010g0130others(21): Show | 24 | HG00733.hp2 HG01109.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.740+2148G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636872 | ||||||
| chr22:39636911
|
A | G | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.740+2187A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39636911 | ||||||
| chr22:39637087
|
G | T | 1 | a0003c0024t0005g0174 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.740+2363G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637087 | ||||||
| chr22:39637242
|
C | T | 38 | a0001c0001t0002g0060a0001c0001t0002g0145a0001c0001t0002g0147others(35): Show | 38 | HG00609.hp1 HG00642.hp1 HG00741.hp1 others(35): Show |
intron_variant | MODIFIER | c.740+2518C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637242 | ||||||
| chr22:39637447
|
C | T | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.740+2723C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637447 | ||||||
| chr22:39637735
|
T | A | 2 | a0002c0025t0001g0090a0002c0025t0001g0091 | 2 | NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.740+3011T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637735 | ||||||
| chr22:39637825
|
A | T | 1 | a0004c0004t0035g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.741-3042A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637825 | ||||||
| chr22:39637914
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.741-2953G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39637914 | ||||||
| chr22:39638139
|
C | T | 1 | a0001c0020t0001g0176 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.741-2728C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638139 | ||||||
| chr22:39638149
|
A | G | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.741-2718A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638149 | ||||||
| chr22:39638462
|
T | C | 12 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0020t0001g0176others(9): Show | 12 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.741-2405T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638462 | ||||||
| chr22:39638464
|
T | A | 2 | a0001c0014t0030g0129a0001c0026t0051g0169 | 2 | HG01884.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.741-2403T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638464 | ||||||
| chr22:39638536
|
A | G | 1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.741-2331A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638536 | ||||||
| chr22:39638588
|
T | C | 78 | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0162others(75): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.741-2279T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638588 | ||||||
| chr22:39638604
|
C | T | 38 | a0001c0001t0002g0060a0001c0001t0002g0145a0001c0001t0002g0147others(35): Show | 38 | HG00609.hp1 HG00642.hp1 HG00741.hp1 others(35): Show |
intron_variant | MODIFIER | c.741-2263C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638604 | ||||||
| chr22:39638884
|
T | C | 174 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(171): Show | 174 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(171): Show |
intron_variant | MODIFIER | c.741-1983T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39638884 | ||||||
| chr22:39639069
|
G | A | 2 | a0001c0001t0003g0160a0001c0001t0048g0128 | 2 | HG03704.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.741-1798G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639069 | ||||||
| chr22:39639454
|
C | T | 2 | a0001c0001t0050g0153a0001c0002t0003g0186 | 2 | HG02080.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.741-1413C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639454 | ||||||
| chr22:39639497
|
C | T | 2 | a0002c0031t0003g0080a0002c0031t0003g0081 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.741-1370C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639497 | ||||||
| chr22:39639502
|
A | C | 5 | a0001c0022t0010g0004a0001c0027t0015g0136a0003c0005t0005g0079others(2): Show | 5 | HG01891.hp2 HG02895.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.741-1365A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639502 | ||||||
| chr22:39639571
|
C | T | 1 | a0001c0002t0002g0193 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.741-1296C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639571 | ||||||
| chr22:39639604
|
A | G | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.741-1263A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639604 | ||||||
| chr22:39639727
|
C | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.741-1140C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39639727 | ||||||
| chr22:39640063
|
G | C | 2 | a0002c0025t0001g0090a0002c0025t0001g0091 | 2 | NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.741-804G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39640063 | ||||||
| chr22:39640116
|
C | T | 1 | a0019c0040t0033g0076 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.741-751C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39640116 | ||||||
| chr22:39640437
|
A | G | 2 | a0003c0008t0006g0093a0003c0008t0006g0094 | 2 | HG01496.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.741-430A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39640437 | ||||||
| chr22:39640593
|
A | G | 174 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(171): Show | 174 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(171): Show |
intron_variant | MODIFIER | c.741-274A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39640593 | ||||||
| chr22:39640820
|
G | A | 1 | a0019c0040t0033g0076 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.741-47G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 5/36 | chr22 | 39640820 | ||||||
| chr22:39641217
|
T | C | 1 | a0001c0002t0007g0214 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1056+35T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641217 | ||||||
| chr22:39641702
|
C | T | 3 | a0002c0003t0001g0048a0002c0003t0001g0051a0002c0003t0010g0047 | 3 | HG02809.hp1 HG03139.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1056+520C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641702 | ||||||
| chr22:39641853
|
G | C | 12 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0020t0001g0176others(9): Show | 12 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.1056+671G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641853 | ||||||
| chr22:39641931
|
T | C | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1056+749T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641931 | ||||||
| chr22:39641936
|
C | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1056+754C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641936 | ||||||
| chr22:39641938
|
C | T | 1 | a0003c0005t0005g0079 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1056+756C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39641938 | ||||||
| chr22:39642013
|
G | C | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1057-784G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642013 | ||||||
| chr22:39642055
|
G | A | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1057-742G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642055 | ||||||
| chr22:39642070
|
T | C | 174 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(171): Show | 174 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(171): Show |
intron_variant | MODIFIER | c.1057-727T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642070 | ||||||
| chr22:39642100
|
C | T | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.1057-697C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642100 | ||||||
| chr22:39642108
|
T | G | 37 | a0001c0001t0002g0060a0001c0001t0002g0145a0001c0001t0002g0147others(34): Show | 37 | HG00609.hp1 HG00642.hp1 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.1057-689T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642108 | ||||||
| chr22:39642397
|
C | T | 7 | a0002c0003t0009g0012a0002c0003t0009g0014a0002c0003t0009g0015others(4): Show | 7 | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.1057-400C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642397 | ||||||
| chr22:39642552
|
G | C | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1057-245G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642552 | ||||||
| chr22:39642568
|
C | T | 1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1057-229C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642568 | ||||||
| chr22:39642619
|
C | T | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1057-178C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642619 | ||||||
| chr22:39642693
|
G | A | 2 | a0001c0001t0007g0038a0001c0001t0011g0063 | 2 | HG01192.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.1057-104G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 6/36 | chr22 | 39642693 | ||||||
| chr22:39642906
|
C | G | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1149+17C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39642906 | ||||||
| chr22:39642925
|
C | G | 1 | a0001c0023t0010g0113 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1149+36C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39642925 | ||||||
| chr22:39642966
|
G | T | 3 | a0001c0009t0003g0103a0001c0009t0007g0104a0001c0009t0007g0105 | 3 | HG02055.hp1 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1149+77G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39642966 | ||||||
| chr22:39643051
|
A | G | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1149+162A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643051 | ||||||
| chr22:39643144
|
G | A | 2 | a0003c0017t0005g0088a0003c0017t0005g0089 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1149+255G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643144 | ||||||
| chr22:39643173
|
G | A | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1149+284G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643173 | ||||||
| chr22:39643296
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1149+407G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643296 | ||||||
| chr22:39643450
|
G | A | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1149+561G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643450 | ||||||
| chr22:39643548
|
T | C | 220 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(217): Show | 220 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.1149+659T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643548 | ||||||
| chr22:39643582
|
G | A | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1149+693G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643582 | ||||||
| chr22:39643623
|
G | A | 3 | a0001c0009t0002g0009a0014c0033t0002g0078a0020c0042t0005g0077 | 3 | HG02486.hp1 HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1149+734G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643623 | ||||||
| chr22:39643773
|
G | A | 2 | a0001c0018t0002g0157a0001c0018t0002g0158 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1149+884G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643773 | ||||||
| chr22:39643946
|
G | A | 1 | a0001c0002t0011g0069 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1149+1057G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39643946 | ||||||
| chr22:39644025
|
C | T | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1149+1136C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644025 | ||||||
| chr22:39644026
|
G | A | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1149+1137G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644026 | ||||||
| chr22:39644052
|
G | T | 27 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(24): Show | 27 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(24): Show |
intron_variant | MODIFIER | c.1149+1163G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644052 | ||||||
| chr22:39644057
|
G | A | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1149+1168G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644057 | ||||||
| chr22:39644068
|
G | C | 2 | a0001c0001t0003g0165a0024c0035t0044g0167 | 2 | HG01099.hp2 NA18945.hp1 |
intron_variant | MODIFIER | c.1149+1179G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644068 | ||||||
| chr22:39644109
|
G | A | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1149+1220G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644109 | ||||||
| chr22:39644421
|
A | G | 13 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0020t0001g0176others(10): Show | 13 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.1149+1532A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644421 | ||||||
| chr22:39644499
|
T | C | 5 | a0001c0001t0052g0075a0001c0020t0001g0146a0003c0017t0005g0088others(2): Show | 5 | HG02280.hp2 HG02559.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.1149+1610T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644499 | ||||||
| chr22:39644502
|
C | T | 1 | a0003c0005t0008g0171 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1149+1613C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644502 | ||||||
| chr22:39644684
|
CT | C | 7 | a0001c0002t0002g0192a0001c0002t0003g0180a0001c0002t0007g0218others(4): Show | 7 | HG00323.hp2 HG01081.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.1149+1809delT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr22 | 39644684 | |||||
| chr22:39644752
|
A | G | 28 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(25): Show | 28 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1150-1817A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644752 | ||||||
| chr22:39644855
|
T | C | 28 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(25): Show | 28 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1150-1714T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644855 | ||||||
| chr22:39644887
|
T | C | 137 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(134): Show | 137 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.1150-1682T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39644887 | ||||||
| chr22:39645008
|
C | T | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1150-1561C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645008 | ||||||
| chr22:39645010
|
G | C | 14 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(11): Show | 14 | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
intron_variant | MODIFIER | c.1150-1559G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645010 | ||||||
| chr22:39645011
|
A | T | 1 | a0001c0002t0007g0203 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1150-1558A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645011 | ||||||
| chr22:39645189
|
G | A | 1 | a0012c0021t0022g0087 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1150-1380G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645189 | ||||||
| chr22:39645312
|
C | G | 103 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(100): Show | 103 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.1150-1257C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645312 | ||||||
| chr22:39645407
|
G | A | 2 | a0001c0020t0001g0146a0012c0021t0022g0087 | 2 | HG02280.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1150-1162G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645407 | ||||||
| chr22:39645527
|
A | G | 27 | a0001c0009t0003g0103a0001c0014t0001g0045a0001c0014t0012g0126others(24): Show | 27 | HG00140.hp2 HG00639.hp2 HG00642.hp2 others(24): Show |
intron_variant | MODIFIER | c.1150-1042A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645527 | ||||||
| chr22:39645762
|
C | G | 59 | a0001c0001t0004g0107a0001c0001t0005g0007a0001c0001t0005g0050others(56): Show | 59 | HG00408.hp2 HG00639.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.1150-807C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645762 | ||||||
| chr22:39645776
|
G | A | 1 | a0003c0005t0008g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1150-793G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645776 | ||||||
| chr22:39645799
|
C | T | 1 | a0002c0003t0001g0046 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1150-770C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645799 | ||||||
| chr22:39645882
|
A | C | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1150-687A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645882 | ||||||
| chr22:39645882
|
A | G | 46 | a0001c0001t0004g0065a0001c0001t0007g0038a0001c0001t0007g0141others(43): Show | 46 | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(43): Show |
intron_variant | MODIFIER | c.1150-687A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39645882 | ||||||
| chr22:39646049
|
C | T | 15 | a0001c0001t0004g0065a0001c0001t0036g0086a0001c0022t0032g0030others(12): Show | 15 | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1150-520C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646049 | ||||||
| chr22:39646092
|
G | T | 1 | a0001c0020t0001g0176 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1150-477G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646092 | ||||||
| chr22:39646110
|
G | A | 182 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(179): Show | 182 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.1150-459G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646110 | ||||||
| chr22:39646125
|
G | T | 1 | a0001c0001t0004g0107 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1150-444G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646125 | ||||||
| chr22:39646139
|
C | T | 1 | a0001c0026t0051g0169 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1150-430C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646139 | ||||||
| chr22:39646195
|
G | A | 1 | a0002c0013t0029g0164 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1150-374G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646195 | ||||||
| chr22:39646279
|
A | G | 169 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(166): Show | 169 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(166): Show |
intron_variant | MODIFIER | c.1150-290A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646279 | ||||||
| chr22:39646279
|
A | T | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1150-290A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646279 | ||||||
| chr22:39646460
|
C | G | 6 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(3): Show | 6 | HG01243.hp1 HG02109.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1150-109C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646460 | ||||||
| chr22:39646520
|
C | T | 1 | a0001c0051t0001g0194 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1150-49C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646520 | ||||||
| chr22:39646527
|
ATCCCTG | A | 7 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(4): Show | 7 | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1150-26_1150-21del others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr22 | 39646527 | |||||
| chr22:39646542
|
C | T | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1150-27C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | chr22 | 39646542 | ||||||
| chr22:39647162
|
CGGA | C | 144 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(141): Show | 144 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(141): Show |
intron_variant | MODIFIER | c.1462+285_1462+287d others(5): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr22 | 39647162 | |||||
| chr22:39647280
|
C | A | 1 | a0002c0003t0001g0144 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1462+399C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647280 | ||||||
| chr22:39647450
|
G | C | 7 | a0001c0027t0015g0092a0001c0027t0015g0136a0003c0005t0005g0055others(4): Show | 7 | HG01891.hp2 HG02572.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1463-372G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647450 | ||||||
| chr22:39647450
|
G | T | 9 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(6): Show | 9 | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1463-372G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647450 | ||||||
| chr22:39647535
|
C | T | 1 | a0001c0001t0003g0041 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1463-287C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647535 | ||||||
| chr22:39647551
|
A | G | 23 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148others(20): Show | 23 | HG00408.hp2 HG00609.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.1463-271A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647551 | ||||||
| chr22:39647552
|
C | G | 1 | a0001c0001t0047g0168 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1463-270C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647552 | ||||||
| chr22:39647807
|
A | G | 128 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(125): Show | 128 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.1463-15A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | chr22 | 39647807 | ||||||
| chr22:39648081
|
C | A | 4 | a0001c0022t0032g0030a0009c0016t0005g0108a0009c0016t0015g0111others(1): Show | 4 | HG01891.hp1 HG03098.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1567+155C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648081 | ||||||
| chr22:39648302
|
C | T | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1567+376C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648302 | ||||||
| chr22:39648384
|
G | A | 97 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(94): Show | 97 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.1567+458G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648384 | ||||||
| chr22:39648397
|
C | T | 77 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(74): Show | 77 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.1567+471C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648397 | ||||||
| chr22:39648473
|
C | T | 5 | a0001c0001t0036g0086a0001c0002t0031g0200a0001c0034t0028g0102others(2): Show | 5 | HG02257.hp1 HG02615.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1567+547C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648473 | ||||||
| chr22:39648496
|
G | A | 8 | a0002c0003t0001g0046a0002c0003t0001g0049a0002c0003t0001g0073others(5): Show | 8 | HG02145.hp1 HG02280.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1567+570G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648496 | ||||||
| chr22:39648526
|
C | T | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1567+600C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648526 | ||||||
| chr22:39648719
|
C | T | 1 | a0001c0020t0001g0146 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1568-782C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648719 | ||||||
| chr22:39648834
|
C | T | 8 | a0001c0009t0002g0009a0001c0009t0003g0103a0001c0009t0004g0132others(5): Show | 8 | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1568-667C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648834 | ||||||
| chr22:39648835
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1568-666G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39648835 | ||||||
| chr22:39649011
|
C | A | 1 | a0001c0002t0004g0190 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1568-490C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39649011 | ||||||
| chr22:39649205
|
G | T | 136 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(133): Show | 136 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1568-296G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39649205 | ||||||
| chr22:39649231
|
C | T | 1 | a0001c0009t0004g0132 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1568-270C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39649231 | ||||||
| chr22:39649345
|
G | A | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1568-156G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 9/36 | chr22 | 39649345 | ||||||
| chr22:39649943
|
G | A | 1 | a0001c0020t0001g0176 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1992+18G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39649943 | ||||||
| chr22:39650059
|
G | C | 1 | a0004c0006t0014g0207 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1992+134G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650059 | ||||||
| chr22:39650072
|
A | G | 88 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(85): Show | 88 | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.1992+147A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650072 | ||||||
| chr22:39650133
|
G | A | 1 | a0001c0001t0002g0147 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1992+208G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650133 | ||||||
| chr22:39650151
|
C | T | 1 | a0003c0005t0005g0056 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1992+226C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650151 | ||||||
| chr22:39650171
|
T | C | 28 | a0001c0001t0007g0038a0001c0001t0008g0008a0001c0001t0008g0131others(25): Show | 28 | HG00642.hp1 HG00733.hp2 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.1992+246T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650171 | ||||||
| chr22:39650277
|
T | C | 11 | a0001c0001t0007g0038a0001c0001t0011g0063a0004c0004t0016g0150others(8): Show | 11 | HG00642.hp1 HG00733.hp2 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.1992+352T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650277 | ||||||
| chr22:39650305
|
TA | T | 31 | a0001c0001t0002g0148a0001c0001t0003g0151a0001c0001t0007g0038others(28): Show | 31 | HG00642.hp1 HG00733.hp2 HG01099.hp2 others(28): Show |
intron_variant | MODIFIER | c.1992+396delA | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39650305 | |||||
| chr22:39650325
|
A | T | 8 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(5): Show | 8 | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1992+400A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650325 | ||||||
| chr22:39650448
|
G | A | 2 | a0009c0016t0005g0108a0009c0016t0055g0109 | 2 | HG03098.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1992+523G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650448 | ||||||
| chr22:39650479
|
C | A | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1992+554C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650479 | ||||||
| chr22:39650522
|
C | G | 1 | a0001c0001t0046g0115 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1992+597C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650522 | ||||||
| chr22:39650533
|
C | T | 37 | a0001c0001t0007g0038a0001c0001t0008g0008a0001c0001t0008g0131others(34): Show | 37 | HG00642.hp1 HG00733.hp2 HG01192.hp1 others(34): Show |
intron_variant | MODIFIER | c.1992+608C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650533 | ||||||
| chr22:39650580
|
C | T | 17 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(14): Show | 17 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.1992+655C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650580 | ||||||
| chr22:39650678
|
A | G | 2 | a0001c0002t0002g0192a0001c0002t0002g0193 | 2 | NA18947.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1992+753A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650678 | ||||||
| chr22:39650752
|
A | C | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1992+827A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650752 | ||||||
| chr22:39650878
|
G | T | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1992+953G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39650878 | ||||||
| chr22:39651152
|
G | GTCACTGG others(3): Show |
4 | a0002c0013t0001g0140a0002c0013t0029g0164a0002c0025t0001g0090others(1): Show | 4 | HG03041.hp1 HG03195.hp2 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.1992+1228_1992+123 others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39651152 | |||||
| chr22:39651246
|
C | T | 2 | a0002c0031t0003g0080a0002c0031t0003g0081 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1992+1321C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651246 | ||||||
| chr22:39651365
|
T | C | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1992+1440T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651365 | ||||||
| chr22:39651435
|
CTTAA | C | 2 | a0002c0003t0012g0002a0002c0003t0049g0010 | 2 | HG01255.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.1992+1515_1992+151 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39651435 | |||||
| chr22:39651524
|
T | C | 124 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(121): Show | 124 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.1992+1599T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651524 | ||||||
| chr22:39651566
|
G | C | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1992+1641G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651566 | ||||||
| chr22:39651617
|
C | T | 1 | a0001c0002t0004g0232 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1992+1692C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651617 | ||||||
| chr22:39651904
|
T | C | 1 | a0001c0001t0003g0173 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.1992+1979T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651904 | ||||||
| chr22:39651915
|
C | T | 1 | a0006c0012t0008g0143 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1992+1990C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651915 | ||||||
| chr22:39651949
|
G | A | 1 | a0001c0001t0047g0168 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1992+2024G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39651949 | ||||||
| chr22:39652039
|
C | CT | 45 | a0001c0001t0007g0038a0001c0001t0008g0008a0001c0001t0008g0131others(42): Show | 45 | HG00642.hp1 HG00733.hp2 HG01109.hp2 others(42): Show |
intron_variant | MODIFIER | c.1992+2126dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39652039 | |||||
| chr22:39652039
|
C | CTT | 125 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(122): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.1992+2125_1992+212 others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39652039 | |||||
| chr22:39652170
|
A | T | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1992+2245A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652170 | ||||||
| chr22:39652286
|
G | A | 4 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(1): Show | 4 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1992+2361G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652286 | ||||||
| chr22:39652308
|
T | C | 1 | a0002c0003t0004g0005 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1992+2383T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652308 | ||||||
| chr22:39652312
|
G | A | 1 | a0001c0002t0014g0226 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1992+2387G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652312 | ||||||
| chr22:39652553
|
T | C | 210 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(207): Show | 210 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1992+2628T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652553 | ||||||
| chr22:39652744
|
A | G | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1992+2819A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652744 | ||||||
| chr22:39652772
|
G | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1992+2847G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652772 | ||||||
| chr22:39652898
|
A | C | 183 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(180): Show | 183 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.1992+2973A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652898 | ||||||
| chr22:39652948
|
G | T | 1 | a0001c0050t0003g0201 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1992+3023G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652948 | ||||||
| chr22:39652975
|
C | T | 1 | a0001c0002t0014g0226 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1992+3050C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39652975 | ||||||
| chr22:39653035
|
T | TCCCCCCA others(42): Show |
2 | a0001c0018t0002g0157a0001c0018t0002g0158 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1992+3170_1992+321 others(53): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653035 | |||||
| chr22:39653036
|
C | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1992+3111C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653036 | ||||||
| chr22:39653046
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1992+3121G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653046 | ||||||
| chr22:39653046
|
G | GGTGGCTA others(42): Show |
1 | a0004c0006t0016g0191 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1992+3158_1992+315 others(53): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653046 | |||||
| chr22:39653046
|
G | GGTGGCTA others(91): Show |
2 | a0001c0001t0039g0121a0004c0004t0016g0150 | 2 | HG02165.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1992+3158_1992+315 others(102): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653046 | |||||
| chr22:39653046
|
GGTGGCTA others(91): Show |
G | 8 | a0001c0009t0002g0009a0001c0009t0003g0103a0001c0009t0004g0132others(5): Show | 8 | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1992+3147_1992+324 others(102): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653046 | |||||
| chr22:39653071
|
G | A | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1992+3146G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653071 | ||||||
| chr22:39653084
|
G | T | 27 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(24): Show | 27 | HG00642.hp1 HG00733.hp2 HG01257.hp1 others(24): Show |
intron_variant | MODIFIER | c.1992+3159G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653084 | ||||||
| chr22:39653085
|
C | T | 26 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(23): Show | 26 | HG00642.hp1 HG00733.hp2 HG01257.hp1 others(23): Show |
intron_variant | MODIFIER | c.1992+3160C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653085 | ||||||
| chr22:39653095
|
G | A | 27 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(24): Show | 27 | HG00642.hp1 HG00733.hp2 HG01257.hp1 others(24): Show |
intron_variant | MODIFIER | c.1992+3170G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653095 | ||||||
| chr22:39653095
|
GGTGGCTA others(42): Show |
G | 58 | a0001c0001t0003g0173a0001c0001t0005g0007a0001c0001t0005g0050others(55): Show | 58 | HG00408.hp2 HG00639.hp2 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.1992+3196_1992+324 others(53): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653095 | |||||
| chr22:39653133
|
G | T | 12 | a0001c0002t0003g0228a0004c0004t0018g0003a0004c0004t0019g0021others(9): Show | 12 | HG00642.hp1 HG00733.hp2 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.1992+3208G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653133 | ||||||
| chr22:39653134
|
C | T | 12 | a0001c0002t0003g0228a0004c0004t0018g0003a0004c0004t0019g0021others(9): Show | 12 | HG00642.hp1 HG00733.hp2 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.1992+3209C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653134 | ||||||
| chr22:39653144
|
A | AGTGGCTA others(42): Show |
1 | a0004c0049t0040g0182 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1992+3244_1992+324 others(53): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653144 | |||||
| chr22:39653144
|
A | AGTGGCTA others(91): Show |
9 | a0001c0002t0003g0228a0004c0004t0018g0003a0004c0004t0019g0021others(6): Show | 9 | HG00642.hp1 HG01358.hp1 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.1992+3244_1992+324 others(102): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653144 | |||||
| chr22:39653144
|
A | AGTGGCTA others(140): Show |
2 | a0004c0006t0014g0207a0004c0006t0014g0208 | 2 | HG00733.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.1992+3244_1992+324 others(151): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39653144 | |||||
| chr22:39653144
|
A | G | 106 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(103): Show | 106 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.1992+3219A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653144 | ||||||
| chr22:39653180
|
G | T | 31 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(28): Show | 31 | HG00639.hp2 HG01109.hp1 HG01169.hp2 others(28): Show |
intron_variant | MODIFIER | c.1992+3255G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653180 | ||||||
| chr22:39653356
|
C | T | 8 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(5): Show | 8 | HG01884.hp2 HG01934.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1992+3431C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653356 | ||||||
| chr22:39653405
|
G | A | 173 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(170): Show | 173 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(170): Show |
intron_variant | MODIFIER | c.1992+3480G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653405 | ||||||
| chr22:39653409
|
G | A | 3 | a0001c0001t0007g0141a0001c0002t0002g0210a0001c0002t0007g0218 | 3 | HG02165.hp2 NA18966.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.1992+3484G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653409 | ||||||
| chr22:39653513
|
C | T | 3 | a0001c0001t0002g0162a0001c0001t0038g0161a0006c0015t0002g0188 | 3 | HG01071.hp2 HG01106.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.1992+3588C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653513 | ||||||
| chr22:39653587
|
G | A | 120 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(117): Show | 120 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(117): Show |
intron_variant | MODIFIER | c.1992+3662G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653587 | ||||||
| chr22:39653590
|
A | G | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1992+3665A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653590 | ||||||
| chr22:39653692
|
T | G | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1992+3767T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653692 | ||||||
| chr22:39653719
|
T | C | 210 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(207): Show | 210 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1992+3794T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653719 | ||||||
| chr22:39653740
|
G | A | 8 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(5): Show | 8 | HG01884.hp2 HG01934.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1992+3815G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653740 | ||||||
| chr22:39653838
|
G | C | 9 | a0001c0009t0002g0009a0001c0009t0003g0103a0001c0009t0004g0132others(6): Show | 9 | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1992+3913G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653838 | ||||||
| chr22:39653947
|
C | A | 1 | a0008c0011t0003g0061 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1992+4022C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39653947 | ||||||
| chr22:39654091
|
G | T | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1993-4061G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654091 | ||||||
| chr22:39654189
|
C | T | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1993-3963C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654189 | ||||||
| chr22:39654299
|
A | T | 1 | a0007c0010t0001g0018 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1993-3853A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654299 | ||||||
| chr22:39654390
|
A | C | 6 | a0001c0026t0051g0169a0001c0026t0056g0071a0009c0016t0005g0108others(3): Show | 6 | HG01109.hp2 HG01884.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1993-3762A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654390 | ||||||
| chr22:39654410
|
G | A | 6 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(3): Show | 6 | HG01884.hp2 HG01934.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.1993-3742G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654410 | ||||||
| chr22:39654489
|
TC | T | 44 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(41): Show | 44 | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(41): Show |
intron_variant | MODIFIER | c.1993-3660delC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39654489 | |||||
| chr22:39654658
|
G | T | 1 | a0004c0004t0034g0011 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1993-3494G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654658 | ||||||
| chr22:39654729
|
G | A | 1 | a0016c0045t0002g0220 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1993-3423G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654729 | ||||||
| chr22:39654785
|
G | A | 5 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(2): Show | 5 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1993-3367G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654785 | ||||||
| chr22:39654858
|
A | C | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1993-3294A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654858 | ||||||
| chr22:39654959
|
T | C | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1993-3193T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39654959 | ||||||
| chr22:39655084
|
G | C | 5 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(2): Show | 5 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1993-3068G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39655084 | ||||||
| chr22:39655161
|
A | T | 90 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(87): Show | 90 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.1993-2991A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39655161 | ||||||
| chr22:39655175
|
G | A | 1 | a0002c0003t0001g0159 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1993-2977G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39655175 | ||||||
| chr22:39655270
|
G | GC | 182 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(179): Show | 182 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(179): Show |
intron_variant | MODIFIER | c.1993-2881dupC | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39655270 | |||||
| chr22:39655672
|
G | A | 1 | a0021c0038t0001g0074 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1993-2480G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39655672 | ||||||
| chr22:39656074
|
T | C | 5 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(2): Show | 5 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1993-2078T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39656074 | ||||||
| chr22:39656110
|
G | A | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1993-2042G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39656110 | ||||||
| chr22:39656112
|
C | G | 4 | a0001c0026t0051g0169a0001c0026t0056g0071a0012c0021t0022g0072others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993-2040C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39656112 | ||||||
| chr22:39656212
|
C | T | 6 | a0001c0001t0036g0086a0001c0023t0010g0113a0001c0023t0010g0130others(3): Show | 6 | HG01109.hp2 HG01884.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.1993-1940C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39656212 | ||||||
| chr22:39656225
|
A | AT | 12 | a0001c0001t0036g0086a0001c0009t0002g0009a0001c0009t0003g0103others(9): Show | 12 | HG01243.hp2 HG02055.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.1993-1917dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39656225 | |||||
| chr22:39656303
|
G | T | 4 | a0001c0001t0036g0086a0001c0023t0010g0113a0001c0023t0010g0130others(1): Show | 4 | HG02257.hp1 HG02622.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993-1849G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39656303 | ||||||
| chr22:39656641
|
G | GGAAT | 33 | a0001c0001t0002g0123a0001c0001t0003g0165a0001c0001t0004g0133others(30): Show | 33 | HG00099.hp1 HG00408.hp2 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.1993-1482_1993-147 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39656641 | |||||
| chr22:39656641
|
G | GGAATGAA others(5): Show |
8 | a0001c0009t0002g0009a0001c0009t0003g0103a0001c0009t0004g0132others(5): Show | 8 | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1993-1490_1993-147 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39656641 | |||||
| chr22:39656661
|
T | TGAAC | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1993-1488_1993-148 others(8): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39656661 | |||||
| chr22:39657010
|
C | A | 1 | a0004c0004t0043g0064 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1993-1142C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657010 | ||||||
| chr22:39657039
|
C | T | 1 | a0010c0028t0004g0035 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1993-1113C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657039 | ||||||
| chr22:39657040
|
G | A | 29 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(26): Show | 29 | HG01109.hp1 HG01169.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1993-1112G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657040 | ||||||
| chr22:39657146
|
C | T | 5 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(2): Show | 5 | HG02109.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1993-1006C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657146 | ||||||
| chr22:39657155
|
C | T | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1993-997C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657155 | ||||||
| chr22:39657257
|
G | T | 1 | a0002c0003t0001g0046 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1993-895G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657257 | ||||||
| chr22:39657409
|
G | A | 1 | a0008c0047t0017g0202 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1993-743G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657409 | ||||||
| chr22:39657510
|
G | A | 9 | a0003c0008t0006g0124a0005c0007t0006g0096a0005c0007t0006g0097others(6): Show | 9 | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1993-642G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657510 | ||||||
| chr22:39657563
|
G | A | 3 | a0001c0023t0010g0113a0001c0023t0010g0130a0001c0034t0028g0102 | 3 | HG02257.hp1 HG02622.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1993-589G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657563 | ||||||
| chr22:39657677
|
TGTGAGGG others(10): Show |
T | 10 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(7): Show | 10 | HG01884.hp2 HG01891.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.1993-470_1993-454d others(19): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | 39657677 | |||||
| chr22:39657724
|
C | T | 1 | a0001c0001t0002g0147 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1993-428C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657724 | ||||||
| chr22:39657762
|
C | T | 3 | a0001c0002t0002g0210a0001c0002t0002g0223a0001c0002t0045g0195 | 3 | HG02155.hp1 NA18612.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.1993-390C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657762 | ||||||
| chr22:39657769
|
C | T | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1993-383C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39657769 | ||||||
| chr22:39658001
|
C | T | 3 | a0001c0020t0001g0146a0001c0020t0001g0176a0006c0015t0002g0225 | 3 | HG01255.hp2 HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.1993-151C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39658001 | ||||||
| chr22:39658038
|
A | G | 4 | a0001c0027t0015g0092a0001c0027t0015g0136a0003c0024t0005g0174others(1): Show | 4 | HG00639.hp2 HG01891.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1993-114A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39658038 | ||||||
| chr22:39658077
|
G | A | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1993-75G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39658077 | ||||||
| chr22:39658084
|
T | C | 1 | a0001c0002t0002g0210 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1993-68T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | chr22 | 39658084 | ||||||
| chr22:39658330
|
G | A | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2144+27G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 11/36 | chr22 | 39658330 | ||||||
| chr22:39658423
|
T | G | 168 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(165): Show | 168 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.2144+120T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 11/36 | chr22 | 39658423 | ||||||
| chr22:39658851
|
T | C | 8 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(5): Show | 8 | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2145-80T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 11/36 | chr22 | 39658851 | ||||||
| chr22:39659245
|
T | C | 181 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(178): Show | 181 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.2330+129T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 12/36 | chr22 | 39659245 | ||||||
| chr22:39659299
|
T | C | 181 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(178): Show | 181 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.2331-134T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 12/36 | chr22 | 39659299 | ||||||
| chr22:39659561
|
G | A | 1 | a0001c0002t0002g0210 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.2448+11G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 13/36 | chr22 | 39659561 | ||||||
| chr22:39659565
|
C | T | 1 | a0001c0001t0003g0041 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2448+15C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 13/36 | chr22 | 39659565 | ||||||
| chr22:39659588
|
C | T | 1 | a0006c0012t0008g0143 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2448+38C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 13/36 | chr22 | 39659588 | ||||||
| chr22:39659891
|
T | C | 181 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(178): Show | 181 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.2604+39T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39659891 | ||||||
| chr22:39659964
|
C | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2604+112C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39659964 | ||||||
| chr22:39660036
|
C | T | 1 | a0001c0002t0007g0218 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.2604+184C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39660036 | ||||||
| chr22:39660059
|
C | G | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.2604+207C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39660059 | ||||||
| chr22:39660245
|
C | T | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.2605-99C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39660245 | ||||||
| chr22:39660254
|
G | A | 1 | a0005c0007t0006g0099 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2605-90G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39660254 | ||||||
| chr22:39660325
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2605-19G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 14/36 | chr22 | 39660325 | ||||||
| chr22:39660812
|
G | A | 25 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(22): Show | 25 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.2699-296G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 15/36 | chr22 | 39660812 | ||||||
| chr22:39660932
|
C | T | 3 | a0004c0006t0014g0207a0004c0006t0014g0208a0004c0049t0040g0182 | 3 | HG00733.hp2 HG01261.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.2699-176C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 15/36 | chr22 | 39660932 | ||||||
| chr22:39661037
|
G | A | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2699-71G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 15/36 | chr22 | 39661037 | ||||||
| chr22:39661435
|
C | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2901+125C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 16/36 | chr22 | 39661435 | ||||||
| chr22:39661491
|
C | T | 3 | a0002c0003t0013g0017a0002c0032t0013g0224a0010c0028t0013g0052 | 3 | HG02738.hp1 HG03491.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.2901+181C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 16/36 | chr22 | 39661491 | ||||||
| chr22:39661847
|
C | T | 1 | a0005c0007t0060g0095 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2902-118C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 16/36 | chr22 | 39661847 | ||||||
| chr22:39662586
|
A | AG | 4 | a0001c0001t0002g0117a0001c0002t0002g0193a0001c0002t0004g0209others(1): Show | 4 | NA18947.hp1 NA18947.hp2 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.3372+155dupG | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr22 | 39662586 | |||||
| chr22:39662994
|
C | T | 61 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(58): Show | 61 | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(58): Show |
intron_variant | MODIFIER | c.3473+118C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 18/36 | chr22 | 39662994 | ||||||
| chr22:39663144
|
G | A | 2 | a0001c0001t0004g0065a0006c0012t0004g0031 | 2 | HG01099.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.3473+268G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 18/36 | chr22 | 39663144 | ||||||
| chr22:39663254
|
T | C | 1 | a0001c0022t0032g0030 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3473+378T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 18/36 | chr22 | 39663254 | ||||||
| chr22:39663330
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3474-388G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 18/36 | chr22 | 39663330 | ||||||
| chr22:39664501
|
C | G | 1 | a0001c0001t0003g0116 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3667-238C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 20/36 | chr22 | 39664501 | ||||||
| chr22:39664576
|
C | T | 1 | a0001c0002t0002g0213 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.3667-163C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 20/36 | chr22 | 39664576 | ||||||
| chr22:39664657
|
C | T | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.3667-82C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 20/36 | chr22 | 39664657 | ||||||
| chr22:39664719
|
C | A | 2 | a0001c0023t0010g0113a0001c0023t0010g0130 | 2 | HG02622.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.3667-20C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 20/36 | chr22 | 39664719 | ||||||
| chr22:39665000
|
A | G | 1 | a0004c0049t0040g0182 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3851+77A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665000 | ||||||
| chr22:39665084
|
A | T | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3851+161A>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665084 | ||||||
| chr22:39665119
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3851+196G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665119 | ||||||
| chr22:39665141
|
G | C | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.3851+218G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665141 | ||||||
| chr22:39665184
|
T | C | 1 | a0001c0001t0057g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3851+261T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665184 | ||||||
| chr22:39665339
|
A | G | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3852-159A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665339 | ||||||
| chr22:39665492
|
C | T | 3 | a0001c0023t0010g0113a0001c0023t0010g0130a0001c0034t0028g0102 | 3 | HG02257.hp1 HG02622.hp2 HG03209.hp2 |
splice_region_variant&intron_variant | LOW | c.3852-6C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 21/36 | chr22 | 39665492 | ||||||
| chr22:39665641
|
C | G | 2 | a0003c0005t0005g0055a0003c0005t0005g0056 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3978+17C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 22/36 | chr22 | 39665641 | ||||||
| chr22:39665678
|
A | G | 54 | a0001c0002t0003g0228a0001c0022t0010g0004a0001c0027t0015g0092others(51): Show | 54 | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.3978+54A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 22/36 | chr22 | 39665678 | ||||||
| chr22:39665696
|
G | A | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.3978+72G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 22/36 | chr22 | 39665696 | ||||||
| chr22:39665773
|
C | T | 1 | a0020c0042t0005g0077 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3979-108C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 22/36 | chr22 | 39665773 | ||||||
| chr22:39666338
|
C | T | 7 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02280.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4104+332C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39666338 | ||||||
| chr22:39666504
|
G | GCAGA | 2 | a0001c0002t0017g0215a0006c0015t0002g0221 | 2 | HG04184.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.4104+500_4104+503d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr22 | 39666504 | |||||
| chr22:39666785
|
CACCTGGG others(14): Show |
C | 1 | a0001c0001t0047g0168 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.4104+780_4104+800d others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39666785 | ||||||
| chr22:39667007
|
G | A | 126 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(123): Show | 126 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.4104+1001G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667007 | ||||||
| chr22:39667022
|
A | G | 2 | a0004c0004t0034g0011a0004c0004t0035g0025 | 2 | HG02683.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4104+1016A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667022 | ||||||
| chr22:39667047
|
C | G | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4104+1041C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667047 | ||||||
| chr22:39667067
|
T | C | 41 | a0001c0002t0031g0200a0001c0014t0001g0045a0001c0014t0012g0126others(38): Show | 41 | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(38): Show |
intron_variant | MODIFIER | c.4104+1061T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667067 | ||||||
| chr22:39667129
|
C | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4104+1123C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667129 | ||||||
| chr22:39667356
|
G | C | 1 | a0010c0041t0001g0037 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4105-936G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667356 | ||||||
| chr22:39667408
|
G | C | 1 | a0004c0004t0059g0058 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.4105-884G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667408 | ||||||
| chr22:39667408
|
G | T | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4105-884G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667408 | ||||||
| chr22:39667419
|
C | T | 135 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(132): Show | 135 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.4105-873C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667419 | ||||||
| chr22:39667463
|
C | T | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4105-829C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667463 | ||||||
| chr22:39667488
|
G | A | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4105-804G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667488 | ||||||
| chr22:39667926
|
G | A | 1 | a0010c0028t0004g0035 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4105-366G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39667926 | ||||||
| chr22:39668031
|
A | G | 1 | a0003c0005t0053g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4105-261A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39668031 | ||||||
| chr22:39668148
|
G | A | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4105-144G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39668148 | ||||||
| chr22:39668204
|
CAGA | C | 9 | a0001c0009t0002g0009a0001c0009t0003g0103a0001c0009t0004g0132others(6): Show | 9 | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.4105-83_4105-81del others(3): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr22 | 39668204 | |||||
| chr22:39668276
|
T | C | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4105-16T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | chr22 | 39668276 | ||||||
| chr22:39668414
|
T | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4194+33T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668414 | ||||||
| chr22:39668449
|
G | A | 3 | a0001c0023t0010g0113a0001c0023t0010g0130a0001c0034t0028g0102 | 3 | HG02257.hp1 HG02622.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.4194+68G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668449 | ||||||
| chr22:39668543
|
A | G | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4194+162A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668543 | ||||||
| chr22:39668553
|
T | C | 210 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(207): Show | 210 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.4194+172T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668553 | ||||||
| chr22:39668568
|
C | T | 1 | a0001c0002t0002g0205 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.4194+187C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668568 | ||||||
| chr22:39668569
|
G | T | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4194+188G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668569 | ||||||
| chr22:39668576
|
G | A | 128 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(125): Show | 128 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.4194+195G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668576 | ||||||
| chr22:39668627
|
G | A | 3 | a0002c0003t0013g0017a0002c0032t0013g0224a0010c0028t0013g0052 | 3 | HG02738.hp1 HG03491.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.4194+246G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668627 | ||||||
| chr22:39668755
|
G | A | 1 | a0022c0037t0041g0166 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.4194+374G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668755 | ||||||
| chr22:39668809
|
G | GT | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4194+429dupT | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr22 | 39668809 | |||||
| chr22:39668831
|
C | T | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.4194+450C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668831 | ||||||
| chr22:39668889
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4194+508G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39668889 | ||||||
| chr22:39669000
|
A | G | 129 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(126): Show | 129 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.4194+619A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669000 | ||||||
| chr22:39669064
|
A | G | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4194+683A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669064 | ||||||
| chr22:39669118
|
T | C | 1 | a0001c0001t0005g0125 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4194+737T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669118 | ||||||
| chr22:39669133
|
G | A | 4 | a0001c0001t0002g0145a0001c0001t0002g0147a0001c0001t0002g0148others(1): Show | 4 | HG00609.hp1 NA18954.hp1 NA18954.hp2 others(1): Show |
intron_variant | MODIFIER | c.4194+752G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669133 | ||||||
| chr22:39669317
|
C | T | 185 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(182): Show | 185 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.4195-721C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669317 | ||||||
| chr22:39669327
|
T | C | 125 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(122): Show | 125 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.4195-711T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669327 | ||||||
| chr22:39669334
|
C | T | 16 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(13): Show | 16 | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.4195-704C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669334 | ||||||
| chr22:39669548
|
G | A | 2 | a0001c0018t0002g0157a0001c0018t0002g0158 | 2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.4195-490G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669548 | ||||||
| chr22:39669549
|
G | A | 1 | a0001c0001t0052g0075 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4195-489G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669549 | ||||||
| chr22:39669748
|
T | C | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4195-290T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669748 | ||||||
| chr22:39669855
|
C | T | 1 | a0001c0002t0002g0234 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.4195-183C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 24/36 | chr22 | 39669855 | ||||||
| chr22:39670382
|
G | C | 3 | a0001c0002t0031g0200a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4387+152G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/36 | chr22 | 39670382 | ||||||
| chr22:39670413
|
T | C | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4387+183T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/36 | chr22 | 39670413 | ||||||
| chr22:39670438
|
T | C | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.4387+208T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/36 | chr22 | 39670438 | ||||||
| chr22:39670622
|
T | C | 1 | a0001c0002t0004g0184 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4388-181T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/36 | chr22 | 39670622 | ||||||
| chr22:39670751
|
C | T | 2 | a0011c0029t0020g0082a0011c0029t0020g0083 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4388-52C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 25/36 | chr22 | 39670751 | ||||||
| chr22:39671465
|
T | C | 153 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(150): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(150): Show |
intron_variant | MODIFIER | c.4539+511T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671465 | ||||||
| chr22:39671487
|
G | A | 7 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(4): Show | 7 | HG01243.hp1 HG02109.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.4539+533G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671487 | ||||||
| chr22:39671515
|
G | A | 1 | a0005c0007t0006g0098 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4539+561G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671515 | ||||||
| chr22:39671606
|
G | A | 1 | a0001c0002t0004g0184 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4540-593G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671606 | ||||||
| chr22:39671635
|
G | A | 153 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(150): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(150): Show |
intron_variant | MODIFIER | c.4540-564G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671635 | ||||||
| chr22:39671813
|
C | T | 153 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(150): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(150): Show |
intron_variant | MODIFIER | c.4540-386C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671813 | ||||||
| chr22:39671835
|
T | C | 154 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(151): Show | 154 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.4540-364T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39671835 | ||||||
| chr22:39672046
|
C | T | 153 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(150): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(150): Show |
intron_variant | MODIFIER | c.4540-153C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 26/36 | chr22 | 39672046 | ||||||
| chr22:39672377
|
T | C | 1 | a0003c0005t0054g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4649+69T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672377 | ||||||
| chr22:39672498
|
G | A | 1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4649+190G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672498 | ||||||
| chr22:39672600
|
G | C | 2 | a0001c0020t0001g0146a0001c0020t0001g0176 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.4649+292G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672600 | ||||||
| chr22:39672674
|
T | G | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4650-275T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672674 | ||||||
| chr22:39672712
|
C | T | 1 | a0001c0014t0030g0129 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4650-237C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672712 | ||||||
| chr22:39672752
|
G | A | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4650-197G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672752 | ||||||
| chr22:39672848
|
T | C | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4650-101T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 27/36 | chr22 | 39672848 | ||||||
| chr22:39673239
|
C | G | 1 | a0001c0034t0028g0102 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.4783+157C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673239 | ||||||
| chr22:39673240
|
T | C | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4783+158T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673240 | ||||||
| chr22:39673271
|
A | G | 30 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(27): Show | 30 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(27): Show |
intron_variant | MODIFIER | c.4783+189A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673271 | ||||||
| chr22:39673354
|
G | T | 1 | a0003c0008t0006g0093 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4783+272G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673354 | ||||||
| chr22:39673444
|
A | G | 81 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(78): Show | 81 | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(78): Show |
intron_variant | MODIFIER | c.4783+362A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673444 | ||||||
| chr22:39673472
|
C | T | 1 | a0005c0007t0006g0100 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4783+390C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673472 | ||||||
| chr22:39673485
|
T | C | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4783+403T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673485 | ||||||
| chr22:39673488
|
T | G | 113 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(110): Show | 113 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.4783+406T>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673488 | ||||||
| chr22:39673588
|
C | T | 1 | a0001c0027t0015g0092 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4784-375C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673588 | ||||||
| chr22:39673639
|
C | T | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4784-324C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673639 | ||||||
| chr22:39673662
|
C | T | 3 | a0001c0002t0031g0200a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4784-301C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673662 | ||||||
| chr22:39673731
|
C | T | 3 | a0001c0001t0002g0123a0001c0001t0003g0122a0001c0002t0017g0215 | 3 | HG03704.hp1 HG03942.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.4784-232C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673731 | ||||||
| chr22:39673914
|
G | A | 3 | a0001c0030t0004g0138a0003c0024t0005g0174a0003c0024t0005g0175 | 3 | HG00639.hp2 HG02896.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.4784-49G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673914 | ||||||
| chr22:39673923
|
G | A | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.4784-40G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 28/36 | chr22 | 39673923 | ||||||
| chr22:39674125
|
C | T | 2 | a0002c0031t0003g0080a0002c0031t0003g0081 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.4854+92C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674125 | ||||||
| chr22:39674173
|
C | T | 1 | a0002c0003t0001g0106 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.4854+140C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674173 | ||||||
| chr22:39674229
|
T | C | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4854+196T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674229 | ||||||
| chr22:39674240
|
G | A | 7 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02280.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4854+207G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674240 | ||||||
| chr22:39674316
|
G | A | 1 | a0001c0002t0007g0203 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.4854+283G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674316 | ||||||
| chr22:39674415
|
C | A | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.4854+382C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674415 | ||||||
| chr22:39674441
|
A | G | 155 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(152): Show | 155 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.4854+408A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674441 | ||||||
| chr22:39674536
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4854+503G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674536 | ||||||
| chr22:39674572
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4854+539G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674572 | ||||||
| chr22:39674637
|
C | G | 109 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
intron_variant | MODIFIER | c.4854+604C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674637 | ||||||
| chr22:39674745
|
C | CATTT | 170 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(167): Show | 170 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.4854+716_4854+719d others(6): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | 39674745 | |||||
| chr22:39674878
|
C | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4854+845C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674878 | ||||||
| chr22:39674965
|
A | G | 1 | a0003c0008t0005g0177 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.4854+932A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39674965 | ||||||
| chr22:39675065
|
C | G | 2 | a0002c0013t0001g0140a0002c0013t0029g0164 | 2 | HG03041.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4854+1032C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675065 | ||||||
| chr22:39675152
|
G | T | 4 | a0002c0013t0001g0140a0002c0013t0029g0164a0002c0025t0001g0090others(1): Show | 4 | HG03041.hp1 HG03195.hp2 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.4854+1119G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675152 | ||||||
| chr22:39675183
|
G | A | 1 | a0005c0007t0006g0101 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4854+1150G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675183 | ||||||
| chr22:39675225
|
C | T | 13 | a0004c0004t0016g0150a0004c0004t0018g0003a0004c0004t0019g0021others(10): Show | 13 | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(10): Show |
intron_variant | MODIFIER | c.4854+1192C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675225 | ||||||
| chr22:39675261
|
G | T | 7 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02280.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4854+1228G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675261 | ||||||
| chr22:39675292
|
G | A | 4 | a0001c0026t0051g0169a0001c0026t0056g0071a0001c0027t0015g0092others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.4854+1259G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675292 | ||||||
| chr22:39675317
|
G | A | 112 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(109): Show | 112 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.4854+1284G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675317 | ||||||
| chr22:39675540
|
C | T | 19 | a0004c0004t0016g0150a0004c0004t0018g0003a0004c0004t0019g0021others(16): Show | 19 | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(16): Show |
intron_variant | MODIFIER | c.4854+1507C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675540 | ||||||
| chr22:39675742
|
T | C | 7 | a0002c0003t0009g0012a0002c0003t0009g0014a0002c0003t0009g0015others(4): Show | 7 | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.4855-1599T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675742 | ||||||
| chr22:39675889
|
G | A | 108 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(105): Show | 108 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.4855-1452G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39675889 | ||||||
| chr22:39676020
|
A | G | 1 | a0001c0002t0002g0189 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.4855-1321A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676020 | ||||||
| chr22:39676160
|
C | T | 2 | a0012c0021t0022g0072a0012c0021t0022g0087 | 2 | HG02615.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4855-1181C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676160 | ||||||
| chr22:39676346
|
C | T | 1 | a0001c0001t0008g0008 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.4855-995C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676346 | ||||||
| chr22:39676347
|
G | A | 1 | a0001c0001t0005g0050 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4855-994G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676347 | ||||||
| chr22:39676727
|
A | C | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4855-614A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676727 | ||||||
| chr22:39676821
|
G | A | 1 | a0008c0011t0004g0068 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.4855-520G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676821 | ||||||
| chr22:39676895
|
C | T | 7 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02280.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4855-446C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39676895 | ||||||
| chr22:39677103
|
A | G | 16 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(13): Show | 16 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.4855-238A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39677103 | ||||||
| chr22:39677241
|
C | T | 1 | a0001c0001t0039g0121 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4855-100C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 29/36 | chr22 | 39677241 | ||||||
| chr22:39677492
|
G | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4933+73G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 30/36 | chr22 | 39677492 | ||||||
| chr22:39677693
|
G | A | 1 | a0002c0044t0026g0155 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4933+274G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 30/36 | chr22 | 39677693 | ||||||
| chr22:39677750
|
C | T | 1 | a0001c0009t0004g0132 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4934-237C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 30/36 | chr22 | 39677750 | ||||||
| chr22:39677780
|
C | T | 127 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(124): Show | 127 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.4934-207C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 30/36 | chr22 | 39677780 | ||||||
| chr22:39677940
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4934-47G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 30/36 | chr22 | 39677940 | ||||||
| chr22:39678360
|
A | C | 3 | a0001c0002t0002g0193a0001c0002t0007g0203a0001c0002t0007g0214 | 3 | NA18947.hp1 NA18952.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.5055+252A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678360 | ||||||
| chr22:39678375
|
G | A | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.5055+267G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678375 | ||||||
| chr22:39678413
|
G | T | 1 | a0001c0002t0003g0183 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.5055+305G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678413 | ||||||
| chr22:39678437
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5055+329G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678437 | ||||||
| chr22:39678657
|
G | A | 51 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0145others(48): Show | 51 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.5056-450G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678657 | ||||||
| chr22:39678719
|
G | T | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.5056-388G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678719 | ||||||
| chr22:39678906
|
C | T | 1 | a0001c0022t0032g0030 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5056-201C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678906 | ||||||
| chr22:39678907
|
G | A | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.5056-200G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39678907 | ||||||
| chr22:39679008
|
G | A | 5 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(2): Show | 5 | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.5056-99G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39679008 | ||||||
| chr22:39679102
|
C | T | 2 | a0003c0024t0005g0174a0003c0024t0005g0175 | 2 | HG00639.hp2 HG02896.hp2 |
splice_region_variant&intron_variant | LOW | c.5056-5C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 31/36 | chr22 | 39679102 | ||||||
| chr22:39679468
|
T | C | 219 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(216): Show | 219 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
intron_variant | MODIFIER | c.5394+23T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/36 | chr22 | 39679468 | ||||||
| chr22:39679663
|
A | G | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5395-59A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/36 | chr22 | 39679663 | ||||||
| chr22:39679678
|
G | A | 1 | a0004c0004t0043g0064 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.5395-44G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 32/36 | chr22 | 39679678 | ||||||
| chr22:39679882
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5541+14G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39679882 | ||||||
| chr22:39679892
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5541+24G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39679892 | ||||||
| chr22:39679943
|
C | T | 6 | a0002c0003t0001g0106a0002c0003t0025g0028a0002c0013t0012g0137others(3): Show | 6 | HG01261.hp1 HG01884.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.5541+75C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39679943 | ||||||
| chr22:39680011
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5541+143G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680011 | ||||||
| chr22:39680020
|
G | T | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.5541+152G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680020 | ||||||
| chr22:39680027
|
G | A | 33 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(30): Show | 33 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.5541+159G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680027 | ||||||
| chr22:39680060
|
G | A | 33 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(30): Show | 33 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.5541+192G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680060 | ||||||
| chr22:39680120
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5541+252G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680120 | ||||||
| chr22:39680163
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5541+295G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680163 | ||||||
| chr22:39680275
|
C | A | 3 | a0001c0001t0003g0114a0001c0001t0003g0116a0001c0001t0046g0115 | 3 | HG00544.hp1 NA18612.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.5541+407C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680275 | ||||||
| chr22:39680285
|
C | T | 1 | a0001c0002t0004g0190 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5541+417C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680285 | ||||||
| chr22:39680336
|
G | A | 1 | a0001c0022t0010g0004 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5541+468G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680336 | ||||||
| chr22:39680377
|
G | A | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5541+509G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680377 | ||||||
| chr22:39680611
|
C | T | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5542-319C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680611 | ||||||
| chr22:39680673
|
G | C | 2 | a0002c0003t0013g0017a0010c0028t0013g0052 | 2 | HG02738.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.5542-257G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680673 | ||||||
| chr22:39680728
|
G | A | 2 | a0001c0027t0015g0092a0001c0027t0015g0136 | 2 | HG01891.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.5542-202G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680728 | ||||||
| chr22:39680747
|
C | T | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5542-183C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 33/36 | chr22 | 39680747 | ||||||
| chr22:39681274
|
G | A | 2 | a0003c0005t0005g0170a0003c0005t0005g0172 | 2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5664+222G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681274 | ||||||
| chr22:39681331
|
C | T | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.5664+279C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681331 | ||||||
| chr22:39681483
|
C | T | 107 | a0001c0001t0002g0060a0001c0001t0002g0117a0001c0001t0002g0123others(104): Show | 107 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(104): Show |
intron_variant | MODIFIER | c.5664+431C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681483 | ||||||
| chr22:39681487
|
C | T | 1 | a0018c0039t0001g0024 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5664+435C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681487 | ||||||
| chr22:39681838
|
T | C | 3 | a0003c0008t0006g0124a0005c0007t0006g0101a0005c0007t0006g0112 | 3 | HG02970.hp1 HG03486.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5665-658T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681838 | ||||||
| chr22:39681839
|
T | C | 2 | a0005c0007t0006g0101a0005c0007t0006g0112 | 2 | HG02970.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5665-657T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39681839 | ||||||
| chr22:39682077
|
G | T | 3 | a0001c0022t0010g0004a0012c0021t0022g0072a0012c0021t0022g0087 | 3 | HG02615.hp1 HG02818.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5665-419G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39682077 | ||||||
| chr22:39682335
|
G | A | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5665-161G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39682335 | ||||||
| chr22:39682416
|
C | T | 1 | a0001c0001t0036g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5665-80C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39682416 | ||||||
| chr22:39682417
|
G | A | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5665-79G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39682417 | ||||||
| chr22:39682447
|
G | A | 1 | a0002c0013t0001g0140 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5665-49G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 34/36 | chr22 | 39682447 | ||||||
| chr22:39683155
|
T | A | 4 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(1): Show | 4 | HG01934.hp2 HG02055.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.5830+494T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683155 | ||||||
| chr22:39683260
|
A | G | 5 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(2): Show | 5 | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.5830+599A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683260 | ||||||
| chr22:39683343
|
A | C | 1 | a0001c0002t0004g0233 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.5830+682A>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683343 | ||||||
| chr22:39683402
|
C | T | 3 | a0001c0002t0002g0193a0001c0002t0007g0203a0001c0002t0007g0214 | 3 | NA18947.hp1 NA18952.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.5830+741C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683402 | ||||||
| chr22:39683713
|
C | G | 2 | a0001c0001t0002g0117a0001c0002t0002g0192 | 2 | NA18947.hp2 NA18954.hp1 |
intron_variant | MODIFIER | c.5831-589C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683713 | ||||||
| chr22:39683748
|
C | T | 3 | a0009c0016t0005g0108a0009c0016t0015g0111a0009c0016t0055g0109 | 3 | HG03098.hp1 HG03225.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.5831-554C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683748 | ||||||
| chr22:39683766
|
A | G | 4 | a0001c0026t0051g0169a0001c0026t0056g0071a0001c0027t0015g0092others(1): Show | 4 | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.5831-536A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683766 | ||||||
| chr22:39683809
|
T | C | 5 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(2): Show | 5 | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.5831-493T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683809 | ||||||
| chr22:39683812
|
C | T | 7 | a0001c0014t0001g0045a0001c0014t0012g0126a0001c0014t0030g0129others(4): Show | 7 | HG02109.hp1 HG02280.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.5831-490C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683812 | ||||||
| chr22:39683961
|
A | G | 1 | a0001c0014t0030g0129 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.5831-341A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 35/36 | chr22 | 39683961 | ||||||
| chr22:39684664
|
G | C | 1 | a0006c0012t0003g0013 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6027+166G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684664 | ||||||
| chr22:39684794
|
G | A | 1 | a0020c0042t0005g0077 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6027+296G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684794 | ||||||
| chr22:39684874
|
G | C | 33 | a0003c0005t0005g0055a0003c0005t0005g0056a0003c0005t0005g0079others(30): Show | 33 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.6027+376G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684874 | ||||||
| chr22:39684889
|
A | G | 1 | a0001c0001t0004g0133 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.6027+391A>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684889 | ||||||
| chr22:39684918
|
G | A | 1 | a0001c0001t0009g0134 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6027+420G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684918 | ||||||
| chr22:39684973
|
C | A | 2 | a0004c0004t0034g0011a0004c0004t0035g0025 | 2 | HG02683.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.6027+475C>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684973 | ||||||
| chr22:39684976
|
T | C | 1 | a0002c0019t0001g0036 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.6027+478T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39684976 | ||||||
| chr22:39685019
|
G | T | 16 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(13): Show | 16 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.6027+521G>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685019 | ||||||
| chr22:39685026
|
G | A | 2 | a0001c0026t0051g0169a0001c0026t0056g0071 | 2 | HG01109.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.6027+528G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685026 | ||||||
| chr22:39685038
|
G | C | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.6027+540G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685038 | ||||||
| chr22:39685097
|
T | A | 1 | a0001c0002t0002g0189 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.6027+599T>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685097 | ||||||
| chr22:39685262
|
C | G | 1 | a0002c0003t0001g0156 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.6028-499C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685262 | ||||||
| chr22:39685313
|
C | G | 3 | a0001c0002t0004g0197a0001c0002t0004g0198a0001c0002t0004g0199 | 3 | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.6028-448C>G | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685313 | ||||||
| chr22:39685430
|
G | C | 1 | a0001c0002t0031g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6028-331G>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685430 | ||||||
| chr22:39685526
|
G | A | 1 | a0002c0003t0001g0032 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.6028-235G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685526 | ||||||
| chr22:39685576
|
C | T | 1 | a0001c0046t0003g0185 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6028-185C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685576 | ||||||
| chr22:39685600
|
G | A | 12 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(9): Show | 12 | HG01243.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.6028-161G>A | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685600 | ||||||
| chr22:39685656
|
T | C | 38 | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(35): Show | 38 | HG00639.hp2 HG01109.hp1 HG01175.hp1 others(35): Show |
intron_variant | MODIFIER | c.6028-105T>C | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685656 | ||||||
| chr22:39685710
|
C | T | 2 | a0003c0008t0006g0084a0003c0008t0006g0085 | 2 | HG01109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.6028-51C>T | CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 36/36 | chr22 | 39685710 |