geneid | 779 |
---|---|
ensemblid | ENSG00000081248.12 |
hgncid | 1397 |
symbol | CACNA1S |
name | calcium voltage-gated channel subunit alpha1 S |
refseq_nuc | NM_000069.3 |
refseq_prot | NP_000060.2 |
ensembl_nuc | ENST00000362061.4 |
ensembl_prot | ENSP00000355192.3 |
mane_status | MANE Select |
chr | chr1 |
start | 201039512 |
end | 201112426 |
strand | - |
ver | v1.2 |
region | chr1:201039512-201112426 |
region5000 | chr1:201034512-201117426 |
regionname0 | CACNA1S_chr1_201039512_201112426 |
regionname5000 | CACNA1S_chr1_201034512_201117426 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 1873 | 182 | 31 | 43 | 85 | 3 | 19 | 59 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002 | 0/0 | 1873 | 36 | 20 | 4 | 10 | 0 | 2 | 7 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003 | 0/1 | 1873 | 22 | 0 | 4 | 5 | 4 | 8 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0004 | 0/0 | 1873 | 14 | 2 | 9 | 0 | 2 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005 | 0/0 | 1873 | 11 | 11 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006 | 0/0 | 1873 | 5 | 2 | 0 | 1 | 1 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0007 | 0/0 | 1873 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0009 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0010 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0011 | 0/0 | 1873 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0012 | 0/0 | 1873 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0013 | 0/0 | 1873 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0014 | 0/0 | 1873 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0015 | 0/0 | 1873 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0016 | 0/0 | 1873 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0017 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0018 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0019 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0020 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0021 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0022 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0023 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0024 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0025 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0026 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0027 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0028 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0029 | 0/0 | 1873 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0030 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0031 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0032 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0033 | 0/0 | 1873 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0034 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0035 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0036 | 0/0 | 16 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/0 | 5622 | 58 | 2 | 16 | 30 | 1 | 8 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0002 | 0/0 | 5622 | 20 | 0 | 5 | 10 | 0 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0003 | 0/0 | 5622 | 20 | 0 | 6 | 14 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0004 | 0/0 | 5622 | 16 | 6 | 5 | 3 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0005 | 0/1 | 5622 | 14 | 0 | 3 | 3 | 2 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0006 | 0/0 | 5622 | 13 | 2 | 8 | 0 | 2 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0007 | 0/0 | 5622 | 10 | 0 | 0 | 10 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0008 | 0/0 | 5622 | 9 | 8 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0009 | 0/0 | 5622 | 8 | 7 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0010 | 0/0 | 5622 | 7 | 0 | 0 | 5 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0011 | 0/0 | 5622 | 7 | 3 | 3 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0012 | 0/0 | 5622 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0013 | 0/0 | 5622 | 5 | 0 | 4 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0014 | 0/0 | 5622 | 4 | 3 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0015 | 0/0 | 5622 | 4 | 0 | 0 | 1 | 0 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0016 | 0/0 | 5622 | 4 | 0 | 0 | 4 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0017 | 0/0 | 5622 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0018 | 0/0 | 5622 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0019 | 0/0 | 5622 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0020 | 0/0 | 5622 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0021 | 0/0 | 5622 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0022 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0023 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0024 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0025 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0026 | 0/0 | 5622 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0027 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0028 | 0/0 | 5622 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0029 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0030 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0031 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0032 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0033 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0034 | 0/0 | 5622 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0035 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0036 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0037 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0038 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0039 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0040 | 0/0 | 5608 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0041 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0042 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0043 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0044 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0045 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0046 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0047 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0048 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0049 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0050 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0051 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0052 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0053 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0054 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0055 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0056 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0057 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0058 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0059 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0060 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0061 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0062 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0063 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0064 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0065 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0066 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0067 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0068 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0069 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0070 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0071 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0072 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0073 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0074 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0075 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0076 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0077 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0078 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0079 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0080 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0081 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0082 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0083 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0084 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0085 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0086 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0087 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0088 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0089 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0090 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0091 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0092 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0093 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0094 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0095 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0096 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
c0097 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
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 | 1/1 | 407 | 303 | 83 | 68 | 104 | 14 | 32 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
t0002 | 0/0 | 407 | 10 | 4 | 0 | 4 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
t0003 | 0/0 | 407 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
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 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0043 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0094 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0287 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0290 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0291 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0293 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0305 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 5622 | 58 | 2 | 16 | 30 | 1 | 8 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0002 | 0/0 | 5622 | 20 | 0 | 5 | 10 | 0 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0003 | 0/0 | 5622 | 20 | 0 | 6 | 14 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0004 | 0/0 | 5622 | 16 | 6 | 5 | 3 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0007 | 0/0 | 5622 | 10 | 0 | 0 | 10 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0009 | 0/0 | 5622 | 8 | 7 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0011 | 0/0 | 5622 | 7 | 3 | 3 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0013 | 0/0 | 5622 | 5 | 0 | 4 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0014 | 0/0 | 5622 | 4 | 3 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0016 | 0/0 | 5622 | 4 | 0 | 0 | 4 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0017 | 0/0 | 5622 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0021 | 0/0 | 5622 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0025 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0026 | 0/0 | 5622 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0029 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0030 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0031 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0033 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0038 | 0/0 | 5622 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0050 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0051 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0063 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0070 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0073 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0079 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0083 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0084 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0090 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0008 | 0/0 | 5622 | 9 | 8 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0010 | 0/0 | 5622 | 7 | 0 | 0 | 5 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0012 | 0/0 | 5622 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0020 | 0/0 | 5622 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0023 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0045 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0047 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0048 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0058 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0064 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0067 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0072 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0074 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0075 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0089 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0005 | 0/1 | 5622 | 14 | 0 | 3 | 3 | 2 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0015 | 0/0 | 5622 | 4 | 0 | 0 | 1 | 0 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0056 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0057 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0082 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0086 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0004c0006 | 0/0 | 5622 | 13 | 2 | 8 | 0 | 2 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0004c0043 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0022 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0024 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0044 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0046 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0049 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0052 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0054 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0078 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0094 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0055 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0066 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0071 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0085 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0088 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0007c0036 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0007c0081 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008c0039 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008c0077 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0009c0018 | 0/0 | 5622 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0010c0019 | 0/0 | 5622 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0011c0034 | 0/0 | 5622 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0012c0037 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0013c0035 | 0/0 | 5622 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0014c0027 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0015c0028 | 0/0 | 5622 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0016c0032 | 0/0 | 5622 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0017c0093 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0018c0092 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0019c0042 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0020c0076 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0021c0080 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0022c0041 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0023c0060 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0024c0061 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0025c0059 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0026c0053 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0027c0065 | 0/0 | 5622 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0028c0068 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0029c0087 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0030c0069 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0031c0062 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0032c0091 | 0/0 | 5622 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0033c0097 | 0/0 | 5622 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0034c0095 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0035c0096 | 0/0 | 5622 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0036c0040 | 0/0 | 5608 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 6028 | 57 | 2 | 16 | 30 | 1 | 7 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0001t0002 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0002t0001 | 0/0 | 6028 | 20 | 0 | 5 | 10 | 0 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0003t0001 | 0/0 | 6028 | 18 | 0 | 6 | 12 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0003t0002 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0004t0001 | 0/0 | 6028 | 16 | 6 | 5 | 3 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0007t0001 | 0/0 | 6028 | 9 | 0 | 0 | 9 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0007t0002 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0009t0001 | 0/0 | 6028 | 8 | 7 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0011t0001 | 0/0 | 6028 | 7 | 3 | 3 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0013t0001 | 0/0 | 6028 | 5 | 0 | 4 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0014t0001 | 0/0 | 6028 | 4 | 3 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0016t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0016t0002 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0017t0001 | 0/0 | 6028 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0021t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0025t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0026t0001 | 0/0 | 6028 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0029t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0030t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0031t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0033t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0038t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0050t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0051t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0063t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0070t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0073t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0079t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0083t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0084t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0001c0090t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0008t0001 | 0/0 | 6028 | 9 | 8 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0010t0001 | 0/0 | 6028 | 7 | 0 | 0 | 5 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0012t0001 | 0/0 | 6028 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0020t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0023t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0023t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0045t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0047t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0048t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0058t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0064t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0067t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0072t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0074t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0075t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0002c0089t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0005t0001 | 0/1 | 6028 | 13 | 0 | 3 | 3 | 2 | 4 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0005t0002 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0015t0001 | 0/0 | 6028 | 4 | 0 | 0 | 1 | 0 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0056t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0057t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0082t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0003c0086t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0004c0006t0001 | 0/0 | 6028 | 13 | 2 | 8 | 0 | 2 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0004c0043t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0022t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0022t0003 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0024t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0024t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0044t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0046t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0049t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0052t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0054t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0078t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0005c0094t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0055t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0066t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0071t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0085t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0006c0088t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0007c0036t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0007c0081t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008c0039t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008c0039t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0008c0077t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0009c0018t0001 | 0/0 | 6028 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0010c0019t0001 | 0/0 | 6028 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0011c0034t0001 | 0/0 | 6028 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0012c0037t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0013c0035t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0014c0027t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0015c0028t0001 | 0/0 | 6028 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0016c0032t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0017c0093t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0018c0092t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0019c0042t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0020c0076t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0021c0080t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0022c0041t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0023c0060t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0024c0061t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0025c0059t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0026c0053t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0027c0065t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0028c0068t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0029c0087t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0030c0069t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0031c0062t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0032c0091t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0033c0097t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0034c0095t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0035c0096t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
a0036c0040t0001 | 0/0 | 6014 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | copy fasta | chr1 | 201034512 | 201117426 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0043 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0002g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0002g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0002g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0293 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0002g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0025t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0025t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0026t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0026t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0029t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0029t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0030t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0030t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0031t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0031t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0033t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0033t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0038t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0038t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0050t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0051t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0063t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0070t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0073t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0079t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0083t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0084t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0090t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0023t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0023t0002g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0045t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0047t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0048t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0058t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0064t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0067t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0072t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0074t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0075t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0089t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0094 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0002g0305 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0056t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0057t0001g0291 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0082t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0086t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0043t0001g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0022t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0022t0003g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0024t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0024t0002g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0044t0001g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0046t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0049t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0052t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0054t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0078t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0094t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0055t0001g0290 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0066t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0071t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0085t0002g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0088t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0036t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0036t0001g0287 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0081t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0039t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0039t0002g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0077t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0018t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0018t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0018t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0019t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0019t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0019t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0011c0034t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0012c0037t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0012c0037t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0013c0035t0001g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0014c0027t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0014c0027t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0015c0028t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0015c0028t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0016c0032t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0016c0032t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0017c0093t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0018c0092t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0019c0042t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0020c0076t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0021c0080t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0022c0041t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0023c0060t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0024c0061t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0025c0059t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0026c0053t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0027c0065t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0028c0068t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0029c0087t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0030c0069t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0031c0062t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0032c0091t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0033c0097t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0034c0095t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0035c0096t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0036c0040t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00099 | hp2 | a0003 | c0005 | t0001 | g0095 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00140 | hp1 | a0021 | c0080 | t0001 | g0075 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00140 | hp2 | a0004 | c0006 | t0001 | g0089 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00280 | hp1 | a0020 | c0076 | t0001 | g0087 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00280 | hp2 | a0003 | c0086 | t0001 | g0093 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00323 | hp1 | a0003 | c0057 | t0001 | g0291 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00323 | hp2 | a0001 | c0063 | t0001 | g0193 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00408 | hp2 | a0001 | c0030 | t0001 | g0171 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00438 | hp1 | a0002 | c0067 | t0001 | g0197 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0271 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00544 | hp1 | a0001 | c0029 | t0001 | g0274 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00544 | hp2 | a0001 | c0021 | t0001 | g0170 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00558 | hp1 | a0002 | c0010 | t0001 | g0099 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00558 | hp2 | a0006 | c0088 | t0001 | g0237 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00597 | hp1 | a0001 | c0003 | t0001 | g0144 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0151 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00621 | hp1 | a0003 | c0015 | t0001 | g0078 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00621 | hp2 | a0002 | c0020 | t0001 | g0139 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00639 | hp1 | a0033 | c0097 | t0001 | g0036 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00735 | hp1 | a0003 | c0005 | t0001 | g0110 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00738 | hp1 | a0001 | c0025 | t0001 | g0076 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00738 | hp2 | a0004 | c0006 | t0001 | g0074 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01069 | hp1 | a0001 | c0011 | t0001 | g0085 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01069 | hp2 | a0004 | c0006 | t0001 | g0100 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01070 | hp1 | a0013 | c0035 | t0001 | g0004 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01070 | hp2 | a0002 | c0008 | t0001 | g0038 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01071 | hp1 | a0001 | c0011 | t0001 | g0084 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01071 | hp2 | a0013 | c0035 | t0001 | g0004 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01074 | hp1 | a0004 | c0006 | t0001 | g0067 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01074 | hp2 | a0002 | c0064 | t0001 | g0238 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01081 | hp1 | a0001 | c0013 | t0001 | g0292 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01081 | hp2 | a0001 | c0002 | t0001 | g0051 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01106 | hp2 | a0007 | c0036 | t0001 | g0287 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01109 | hp2 | a0002 | c0072 | t0001 | g0266 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01167 | hp1 | a0004 | c0006 | t0001 | g0295 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01167 | hp2 | a0001 | c0003 | t0001 | g0005 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01168 | hp1 | a0001 | c0004 | t0001 | g0157 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01168 | hp2 | a0004 | c0006 | t0001 | g0026 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01169 | hp1 | a0001 | c0003 | t0001 | g0005 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01169 | hp2 | a0004 | c0006 | t0001 | g0024 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01175 | hp1 | a0029 | c0087 | t0001 | g0019 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01175 | hp2 | a0001 | c0003 | t0001 | g0072 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01243 | hp1 | a0001 | c0009 | t0001 | g0262 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01255 | hp1 | a0001 | c0002 | t0001 | g0124 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01256 | hp1 | a0001 | c0013 | t0001 | g0296 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01258 | hp1 | a0001 | c0013 | t0001 | g0007 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01261 | hp1 | a0004 | c0006 | t0001 | g0022 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01261 | hp2 | a0001 | c0004 | t0001 | g0029 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01346 | hp1 | a0004 | c0043 | t0001 | g0288 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01361 | hp1 | a0001 | c0004 | t0001 | g0068 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01361 | hp2 | a0012 | c0037 | t0001 | g0229 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01433 | hp1 | a0004 | c0006 | t0001 | g0192 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01433 | hp2 | a0003 | c0005 | t0001 | g0161 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01496 | hp1 | a0001 | c0003 | t0001 | g0143 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01496 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01516 | hp1 | a0011 | c0034 | t0001 | g0001 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01516 | hp2 | a0001 | c0026 | t0001 | g0065 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01517 | hp1 | a0006 | c0055 | t0001 | g0290 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01517 | hp2 | a0011 | c0034 | t0001 | g0001 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01884 | hp1 | a0001 | c0014 | t0001 | g0252 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01884 | hp2 | a0002 | c0089 | t0001 | g0054 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01891 | hp1 | a0002 | c0012 | t0001 | g0256 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01891 | hp2 | a0002 | c0008 | t0001 | g0041 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01928 | hp1 | a0001 | c0004 | t0001 | g0071 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0128 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01934 | hp2 | a0001 | c0003 | t0001 | g0289 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01952 | hp1 | a0001 | c0026 | t0001 | g0027 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01952 | hp2 | a0001 | c0002 | t0001 | g0028 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01978 | hp1 | a0001 | c0003 | t0001 | g0125 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01978 | hp2 | a0001 | c0011 | t0001 | g0169 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01981 | hp1 | a0001 | c0004 | t0001 | g0158 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0069 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01993 | hp2 | a0002 | c0012 | t0001 | g0194 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02004 | hp1 | a0001 | c0002 | t0001 | g0002 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02004 | hp2 | a0012 | c0037 | t0001 | g0086 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02015 | hp1 | a0001 | c0002 | t0001 | g0214 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02015 | hp2 | a0001 | c0007 | t0001 | g0111 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02040 | hp1 | a0001 | c0016 | t0002 | g0302 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02040 | hp2 | a0001 | c0030 | t0001 | g0200 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02055 | hp1 | a0009 | c0018 | t0001 | g0189 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02055 | hp2 | a0006 | c0085 | t0002 | g0299 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02056 | hp1 | a0001 | c0021 | t0001 | g0207 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02056 | hp2 | a0001 | c0007 | t0001 | g0216 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02074 | hp2 | a0001 | c0031 | t0001 | g0048 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02080 | hp1 | a0001 | c0002 | t0001 | g0104 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02080 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02145 | hp1 | a0009 | c0018 | t0001 | g0174 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02145 | hp2 | a0002 | c0012 | t0001 | g0261 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02148 | hp1 | a0003 | c0082 | t0001 | g0122 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02148 | hp2 | a0001 | c0025 | t0001 | g0236 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02165 | hp1 | a0001 | c0031 | t0001 | g0209 | EAS | CDX | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02165 | hp2 | a0003 | c0005 | t0001 | g0281 | EAS | CDX | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02257 | hp1 | a0035 | c0096 | t0001 | g0037 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02257 | hp2 | a0002 | c0058 | t0001 | g0103 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02258 | hp2 | a0034 | c0095 | t0001 | g0235 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02273 | hp2 | a0003 | c0005 | t0001 | g0131 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02280 | hp1 | a0002 | c0008 | t0001 | g0221 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02451 | hp1 | a0001 | c0009 | t0001 | g0006 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02451 | hp2 | a0002 | c0047 | t0001 | g0187 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02615 | hp1 | a0004 | c0006 | t0001 | g0106 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02615 | hp2 | a0005 | c0046 | t0001 | g0255 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02630 | hp1 | a0005 | c0044 | t0001 | g0286 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02630 | hp2 | a0005 | c0024 | t0001 | g0257 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02647 | hp1 | a0007 | c0081 | t0001 | g0023 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02647 | hp2 | a0017 | c0093 | t0001 | g0246 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02698 | hp1 | a0003 | c0015 | t0001 | g0061 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0230 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02717 | hp1 | a0002 | c0012 | t0001 | g0270 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02717 | hp2 | a0001 | c0004 | t0001 | g0123 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02723 | hp1 | a0002 | c0008 | t0001 | g0275 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02723 | hp2 | a0001 | c0017 | t0001 | g0052 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02735 | hp1 | a0027 | c0065 | t0001 | g0113 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02735 | hp2 | a0003 | c0005 | t0001 | g0191 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02738 | hp1 | a0001 | c0004 | t0001 | g0025 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02738 | hp2 | a0004 | c0006 | t0001 | g0205 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02809 | hp1 | a0010 | c0019 | t0001 | g0188 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02809 | hp2 | a0002 | c0008 | t0001 | g0250 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02818 | hp1 | a0002 | c0012 | t0001 | g0245 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02818 | hp2 | a0001 | c0050 | t0001 | g0233 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02886 | hp1 | a0010 | c0019 | t0001 | g0164 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02886 | hp2 | a0008 | c0039 | t0002 | g0298 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02895 | hp1 | a0005 | c0024 | t0002 | g0301 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02895 | hp2 | a0016 | c0032 | t0001 | g0268 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02896 | hp1 | a0014 | c0027 | t0001 | g0181 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02896 | hp2 | a0001 | c0017 | t0001 | g0047 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02897 | hp1 | a0014 | c0027 | t0001 | g0182 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02897 | hp2 | a0016 | c0032 | t0001 | g0267 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02922 | hp1 | a0001 | c0017 | t0001 | g0223 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02922 | hp2 | a0001 | c0073 | t0001 | g0046 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02965 | hp1 | a0001 | c0004 | t0001 | g0040 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02965 | hp2 | a0002 | c0074 | t0001 | g0249 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02970 | hp1 | a0001 | c0009 | t0001 | g0006 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02970 | hp2 | a0002 | c0008 | t0001 | g0013 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02976 | hp1 | a0008 | c0039 | t0001 | g0045 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02976 | hp2 | a0002 | c0008 | t0001 | g0218 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03041 | hp1 | a0010 | c0019 | t0001 | g0253 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03041 | hp2 | a0005 | c0052 | t0001 | g0185 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03098 | hp1 | a0005 | c0022 | t0001 | g0260 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03098 | hp2 | a0002 | c0045 | t0001 | g0219 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03139 | hp1 | a0001 | c0014 | t0001 | g0011 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03139 | hp2 | a0002 | c0008 | t0001 | g0042 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03195 | hp1 | a0001 | c0011 | t0001 | g0014 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03195 | hp2 | a0005 | c0049 | t0001 | g0254 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03209 | hp1 | a0005 | c0078 | t0001 | g0226 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03209 | hp2 | a0001 | c0017 | t0001 | g0107 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03225 | hp1 | a0002 | c0023 | t0001 | g0227 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03225 | hp2 | a0005 | c0022 | t0003 | g0258 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03239 | hp1 | a0002 | c0010 | t0001 | g0102 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0239 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03453 | hp1 | a0001 | c0009 | t0001 | g0186 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03453 | hp2 | a0009 | c0018 | t0001 | g0165 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03486 | hp1 | a0005 | c0054 | t0001 | g0177 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03486 | hp2 | a0024 | c0061 | t0001 | g0190 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03540 | hp1 | a0001 | c0009 | t0001 | g0053 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03540 | hp2 | a0001 | c0079 | t0001 | g0269 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03579 | hp1 | a0001 | c0009 | t0001 | g0259 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03579 | hp2 | a0023 | c0060 | t0001 | g0175 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03654 | hp1 | a0001 | c0013 | t0001 | g0293 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03654 | hp2 | a0003 | c0005 | t0001 | g0149 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03669 | hp1 | a0003 | c0015 | t0001 | g0118 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03669 | hp2 | a0001 | c0083 | t0001 | g0101 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03688 | hp1 | a0001 | c0002 | t0001 | g0277 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0017 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03704 | hp1 | a0006 | c0066 | t0001 | g0196 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03704 | hp2 | a0001 | c0051 | t0001 | g0064 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03710 | hp1 | a0015 | c0028 | t0001 | g0058 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03710 | hp2 | a0001 | c0014 | t0001 | g0063 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03831 | hp1 | a0001 | c0002 | t0001 | g0077 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03831 | hp2 | a0015 | c0028 | t0001 | g0222 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03834 | hp1 | a0001 | c0002 | t0001 | g0115 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03927 | hp1 | a0003 | c0005 | t0002 | g0305 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03927 | hp2 | a0001 | c0002 | t0001 | g0272 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03942 | hp2 | a0003 | c0005 | t0001 | g0130 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04115 | hp2 | a0001 | c0002 | t0001 | g0231 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04184 | hp1 | a0001 | c0004 | t0001 | g0018 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0167 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04228 | hp1 | a0002 | c0010 | t0001 | g0117 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04228 | hp2 | a0003 | c0005 | t0001 | g0126 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18522 | hp1 | a0019 | c0042 | t0001 | g0009 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18522 | hp2 | a0001 | c0033 | t0001 | g0082 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18612 | hp1 | a0001 | c0007 | t0001 | g0162 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0276 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18747 | hp2 | a0001 | c0007 | t0002 | g0303 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18906 | hp1 | a0001 | c0011 | t0001 | g0016 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18906 | hp2 | a0001 | c0033 | t0001 | g0251 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18945 | hp1 | a0001 | c0090 | t0001 | g0112 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18945 | hp2 | a0001 | c0029 | t0001 | g0049 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18946 | hp1 | a0002 | c0010 | t0001 | g0225 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18946 | hp2 | a0001 | c0002 | t0001 | g0119 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18947 | hp2 | a0001 | c0011 | t0001 | g0278 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18949 | hp1 | a0018 | c0092 | t0001 | g0228 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18949 | hp2 | a0031 | c0062 | t0001 | g0243 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18950 | hp1 | a0001 | c0003 | t0001 | g0160 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18950 | hp2 | a0001 | c0007 | t0001 | g0142 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18956 | hp2 | a0026 | c0053 | t0001 | g0066 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18959 | hp2 | a0001 | c0007 | t0001 | g0062 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18960 | hp1 | a0001 | c0003 | t0001 | g0213 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18960 | hp2 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18962 | hp1 | a0001 | c0003 | t0001 | g0153 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18962 | hp2 | a0002 | c0010 | t0001 | g0034 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18967 | hp1 | a0001 | c0007 | t0001 | g0056 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18969 | hp2 | a0001 | c0007 | t0001 | g0284 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18971 | hp1 | a0001 | c0003 | t0001 | g0242 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18971 | hp2 | a0001 | c0038 | t0001 | g0096 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18981 | hp1 | a0001 | c0016 | t0001 | g0152 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18981 | hp2 | a0003 | c0005 | t0001 | g0136 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18983 | hp2 | a0002 | c0010 | t0001 | g0215 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18984 | hp1 | a0001 | c0016 | t0001 | g0199 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18984 | hp2 | a0003 | c0056 | t0001 | g0176 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18986 | hp1 | a0001 | c0004 | t0001 | g0154 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18986 | hp2 | a0001 | c0003 | t0001 | g0145 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18989 | hp1 | a0022 | c0041 | t0001 | g0044 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19003 | hp1 | a0002 | c0010 | t0001 | g0173 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19005 | hp2 | a0001 | c0038 | t0001 | g0138 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19009 | hp1 | a0028 | c0068 | t0001 | g0273 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0279 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19010 | hp1 | a0001 | c0004 | t0001 | g0208 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19010 | hp2 | a0003 | c0005 | t0001 | g0137 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19043 | hp1 | a0008 | c0077 | t0001 | g0010 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19043 | hp2 | a0001 | c0009 | t0001 | g0264 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19054 | hp1 | a0002 | c0020 | t0001 | g0134 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19054 | hp2 | a0001 | c0007 | t0001 | g0179 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19057 | hp1 | a0001 | c0003 | t0001 | g0285 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19057 | hp2 | a0002 | c0075 | t0001 | g0195 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19062 | hp1 | a0001 | c0016 | t0001 | g0129 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19062 | hp2 | a0001 | c0021 | t0001 | g0232 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19065 | hp1 | a0036 | c0040 | t0001 | g0008 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19065 | hp2 | a0001 | c0003 | t0002 | g0306 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19070 | hp1 | a0001 | c0002 | t0001 | g0148 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19070 | hp2 | a0001 | c0003 | t0002 | g0307 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19074 | hp1 | a0001 | c0003 | t0001 | g0166 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19074 | hp2 | a0002 | c0020 | t0001 | g0135 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19076 | hp1 | a0001 | c0003 | t0001 | g0210 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19076 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19077 | hp1 | a0001 | c0007 | t0001 | g0097 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19077 | hp2 | a0001 | c0003 | t0001 | g0159 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19078 | hp1 | a0032 | c0091 | t0001 | g0033 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19078 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19079 | hp1 | a0001 | c0003 | t0001 | g0212 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19080 | hp1 | a0001 | c0002 | t0001 | g0206 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19080 | hp2 | a0001 | c0004 | t0001 | g0108 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19081 | hp1 | a0001 | c0084 | t0001 | g0203 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0283 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19084 | hp1 | a0001 | c0003 | t0001 | g0211 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19084 | hp2 | a0001 | c0002 | t0001 | g0050 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0280 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19086 | hp1 | a0001 | c0002 | t0001 | g0147 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19086 | hp2 | a0001 | c0001 | t0001 | g0297 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19090 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19240 | hp1 | a0001 | c0011 | t0001 | g0015 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19240 | hp2 | a0002 | c0023 | t0002 | g0300 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20129 | hp1 | a0005 | c0094 | t0001 | g0263 | AFR | ASW | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20129 | hp2 | a0025 | c0059 | t0001 | g0083 | AFR | ASW | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20752 | hp1 | a0003 | c0005 | t0001 | g0073 | EUR | TSI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20752 | hp2 | a0004 | c0006 | t0001 | g0060 | EUR | TSI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20905 | hp1 | a0001 | c0001 | t0002 | g0304 | SAS | GIH | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20905 | hp2 | a0003 | c0015 | t0001 | g0091 | SAS | GIH | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01123 | hp1 | a0001 | c0013 | t0001 | g0007 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01123 | hp2 | a0007 | c0036 | t0001 | g0244 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02109 | hp1 | a0002 | c0048 | t0001 | g0234 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02109 | hp2 | a0001 | c0014 | t0001 | g0012 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02486 | hp1 | a0001 | c0004 | t0001 | g0059 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02486 | hp2 | a0004 | c0006 | t0001 | g0294 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02559 | hp1 | a0006 | c0071 | t0001 | g0039 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02559 | hp2 | a0002 | c0008 | t0001 | g0220 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG06807 | hp1 | a0001 | c0009 | t0001 | g0265 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG06807 | hp2 | a0001 | c0004 | t0001 | g0121 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20300 | hp1 | a0001 | c0070 | t0001 | g0120 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20300 | hp2 | a0001 | c0004 | t0001 | g0224 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA21309 | hp1 | a0001 | c0004 | t0001 | g0105 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA21309 | hp2 | a0030 | c0069 | t0001 | g0081 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
homoSapiens_chm13v2 | hp1 | a0003 | c0005 | t0001 | g0094 | REF | REF | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0043 | REF | REF | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201039883
|
C | T | 1 | a0021 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.5570G>A | p.Ser1857Asn | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5657/6028 | 5570/5622 | 1857/1873 | chr1 | 201039883 | ||
chr1:201039922
|
C | G | 1 | a0016 | 2 | HG02895.hp2 HG02897.hp2 |
missense_variant | MODERATE | c.5531G>C | p.Ser1844Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5618/6028 | 5531/5622 | 1844/1873 | chr1 | 201039922 | ||
chr1:201040054
|
A | G | 17 | a0002a0005a0007others(14): Show | 70 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(67): Show |
missense_variant | MODERATE | c.5399T>C | p.Leu1800Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5486/6028 | 5399/5622 | 1800/1873 | chr1 | 201040054 | ||
chr1:201043356
|
C | T | 7 | a0005a0006a0009others(4): Show | 24 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(21): Show |
missense_variant | MODERATE | c.4973G>A | p.Arg1658His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/44 | 5060/6028 | 4973/5622 | 1658/1873 | chr1 | 201043356 | ||
chr1:201047168
|
G | A | 2 | a0003a0012 | 24 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(21): Show |
missense_variant | MODERATE | c.4615C>T | p.Arg1539Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/44 | 4702/6028 | 4615/5622 | 1539/1873 | chr1 | 201047168 | ||
chr1:201050459
|
A | G | 1 | a0036 | 1 | NA19065.hp1 | missense_variant | MODERATE | c.4171T>C | p.Trp1391Arg | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/44 | 4258/6028 | 4171/5622 | 1391/1873 | chr1 | 201050459 | ||
chr1:201053259
|
C | T | 1 | a0008 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
missense_variant | MODERATE | c.3811G>A | p.Ala1271Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/44 | 3898/6028 | 3811/5622 | 1271/1873 | chr1 | 201053259 | ||
chr1:201053493
|
C | T | 1 | a0015 | 2 | HG03710.hp1 HG03831.hp2 |
missense_variant | MODERATE | c.3761G>A | p.Arg1254Gln | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/44 | 3848/6028 | 3761/5622 | 1254/1873 | chr1 | 201053493 | ||
chr1:201061398
|
C | T | 1 | a0027 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.3124G>A | p.Ala1042Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/44 | 3211/6028 | 3124/5622 | 1042/1873 | chr1 | 201061398 | ||
chr1:201062037
|
T | C | 1 | a0028 | 1 | NA19009.hp1 | missense_variant | MODERATE | c.2960A>G | p.His987Arg | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/44 | 3047/6028 | 2960/5622 | 987/1873 | chr1 | 201062037 | ||
chr1:201065852
|
C | T | 1 | a0026 | 1 | NA18956.hp2 | missense_variant | MODERATE | c.2839G>A | p.Val947Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/44 | 2926/6028 | 2839/5622 | 947/1873 | chr1 | 201065852 | ||
chr1:201069482
|
A | G | 2 | a0009a0010 | 6 | HG02055.hp1 HG02145.hp1 HG02809.hp1 others(3): Show |
missense_variant | MODERATE | c.2480T>C | p.Met827Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2567/6028 | 2480/5622 | 827/1873 | chr1 | 201069482 | ||
chr1:201069597
|
G | A | 1 | a0025 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.2365C>T | p.Arg789Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2452/6028 | 2365/5622 | 789/1873 | chr1 | 201069597 | ||
chr1:201070289
|
G | C | 1 | a0029 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.2343C>G | p.Ile781Met | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/44 | 2430/6028 | 2343/5622 | 781/1873 | chr1 | 201070289 | ||
chr1:201072817
|
A | G | 1 | a0030 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.2165T>C | p.Ile722Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/44 | 2252/6028 | 2165/5622 | 722/1873 | chr1 | 201072817 | ||
chr1:201074522
|
G | A | 3 | a0014a0023a0024 | 4 | HG02896.hp1 HG02897.hp1 HG03486.hp2 others(1): Show |
missense_variant | MODERATE | c.2047C>T | p.Arg683Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/44 | 2134/6028 | 2047/5622 | 683/1873 | chr1 | 201074522 | ||
chr1:201075507
|
C | T | 1 | a0022 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.1936G>A | p.Val646Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/44 | 2023/6028 | 1936/5622 | 646/1873 | chr1 | 201075507 | ||
chr1:201077919
|
G | C | 1 | a0031 | 1 | NA18949.hp2 | missense_variant | MODERATE | c.1579C>G | p.Leu527Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1666/6028 | 1579/5622 | 527/1873 | chr1 | 201077919 | ||
chr1:201083182
|
A | T | 7 | a0004a0007a0011others(4): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
missense_variant | MODERATE | c.1373T>A | p.Leu458His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/44 | 1460/6028 | 1373/5622 | 458/1873 | chr1 | 201083182 | ||
chr1:201085474
|
G | A | 1 | a0020 | 1 | HG00280.hp1 | missense_variant | MODERATE | c.1112C>T | p.Thr371Met | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/44 | 1199/6028 | 1112/5622 | 371/1873 | chr1 | 201085474 | ||
chr1:201089263
|
A | G | 1 | a0019 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.895T>C | p.Tyr299His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 982/6028 | 895/5622 | 299/1873 | chr1 | 201089263 | ||
chr1:201089385
|
C | T | 1 | a0011 | 2 | HG01516.hp1 HG01517.hp2 |
missense_variant | MODERATE | c.773G>A | p.Gly258Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 860/6028 | 773/5622 | 258/1873 | chr1 | 201089385 | ||
chr1:201089392
|
T | C | 1 | a0032 | 1 | NA19078.hp1 | missense_variant | MODERATE | c.766A>G | p.Ile256Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 853/6028 | 766/5622 | 256/1873 | chr1 | 201089392 | ||
chr1:201092068
|
T | C | 1 | a0018 | 1 | NA18949.hp1 | missense_variant | MODERATE | c.445A>G | p.Thr149Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 4/44 | 532/6028 | 445/5622 | 149/1873 | chr1 | 201092068 | ||
chr1:201093897
|
G | C | 1 | a0017 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.383C>G | p.Thr128Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/44 | 470/6028 | 383/5622 | 128/1873 | chr1 | 201093897 | ||
chr1:201110216
|
G | C | 3 | a0033a0034a0035 | 3 | HG00639.hp1 HG02257.hp1 HG02258.hp2 |
missense_variant | MODERATE | c.206C>G | p.Ala69Gly | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/44 | 293/6028 | 206/5622 | 69/1873 | chr1 | 201110216 | ||
chr1:201112283
|
TGGCTTCT others(7): Show |
T | 1 | a0036 | 1 | NA19065.hp1 | frameshift_variant | HIGH | c.43_56delCAGCCCAAGA others(4): Show |
p.Gln15fs | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/44 | 143/6028 | 43/5622 | 15/1873 | chr1 | 201112283 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201043469
|
G | A | 3 | a0001c0013a0001c0025a0004c0043 | 8 | HG00738.hp1 HG01081.hp1 HG01123.hp1 others(5): Show |
synonymous_variant | LOW | c.4860C>T | p.Pro1620Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/44 | 4947/6028 | 4860/5622 | 1620/1873 | chr1 | 201043469 | ||
chr1:201044439
|
A | G | 1 | a0001c0070 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.4686T>C | p.Ile1562Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/44 | 4773/6028 | 4686/5622 | 1562/1873 | chr1 | 201044439 | ||
chr1:201053248
|
G | A | 10 | a0001c0007a0001c0016a0001c0021others(7): Show | 27 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(24): Show |
synonymous_variant | LOW | c.3822C>T | p.Ile1274Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/44 | 3909/6028 | 3822/5622 | 1274/1873 | chr1 | 201053248 | ||
chr1:201058408
|
G | A | 1 | a0005c0024 | 2 | HG02630.hp2 HG02895.hp1 |
splice_region_variant&synonymous_variant | LOW | c.3609C>T | p.Asp1203Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/44 | 3696/6028 | 3609/5622 | 1203/1873 | chr1 | 201058408 | ||
chr1:201058411
|
G | A | 1 | a0002c0067 | 1 | HG00438.hp1 | synonymous_variant | LOW | c.3606C>T | p.Ile1202Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/44 | 3693/6028 | 3606/5622 | 1202/1873 | chr1 | 201058411 | ||
chr1:201065943
|
G | A | 9 | a0001c0007a0001c0021a0001c0029others(6): Show | 22 | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(19): Show |
splice_region_variant&synonymous_variant | LOW | c.2748C>T | p.His916His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/44 | 2835/6028 | 2748/5622 | 916/1873 | chr1 | 201065943 | ||
chr1:201066301
|
G | A | 5 | a0002c0023a0002c0048a0002c0058others(2): Show | 6 | HG01074.hp2 HG02109.hp1 HG02257.hp2 others(3): Show |
synonymous_variant | LOW | c.2673C>T | p.Ser891Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/44 | 2760/6028 | 2673/5622 | 891/1873 | chr1 | 201066301 | ||
chr1:201069508
|
C | A | 1 | a0001c0030 | 2 | HG00408.hp2 HG02040.hp2 |
synonymous_variant | LOW | c.2454G>T | p.Ala818Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2541/6028 | 2454/5622 | 818/1873 | chr1 | 201069508 | ||
chr1:201069508
|
C | T | 1 | a0001c0051 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.2454G>A | p.Ala818Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2541/6028 | 2454/5622 | 818/1873 | chr1 | 201069508 | ||
chr1:201069544
|
C | G | 1 | a0001c0084 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.2418G>C | p.Leu806Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2505/6028 | 2418/5622 | 806/1873 | chr1 | 201069544 | ||
chr1:201069559
|
A | G | 39 | a0001c0009a0001c0013a0001c0014others(36): Show | 85 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(82): Show |
synonymous_variant | LOW | c.2403T>C | p.Phe801Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2490/6028 | 2403/5622 | 801/1873 | chr1 | 201069559 | ||
chr1:201069577
|
G | T | 1 | a0001c0084 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.2385C>A | p.Ile795Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2472/6028 | 2385/5622 | 795/1873 | chr1 | 201069577 | ||
chr1:201070373
|
C | T | 1 | a0001c0063 | 1 | HG00323.hp2 | synonymous_variant | LOW | c.2259G>A | p.Pro753Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/44 | 2346/6028 | 2259/5622 | 753/1873 | chr1 | 201070373 | ||
chr1:201074574
|
G | A | 3 | a0002c0047a0002c0048a0005c0046 | 3 | HG02109.hp1 HG02451.hp2 HG02615.hp2 |
synonymous_variant | LOW | c.1995C>T | p.Ala665Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/44 | 2082/6028 | 1995/5622 | 665/1873 | chr1 | 201074574 | ||
chr1:201077920
|
C | G | 1 | a0031c0062 | 1 | NA18949.hp2 | synonymous_variant | LOW | c.1578G>C | p.Val526Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1665/6028 | 1578/5622 | 526/1873 | chr1 | 201077920 | ||
chr1:201077934
|
G | A | 22 | a0001c0004a0001c0013a0001c0014others(19): Show | 56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
synonymous_variant | LOW | c.1564C>T | p.Leu522Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1651/6028 | 1564/5622 | 522/1873 | chr1 | 201077934 | ||
chr1:201077947
|
A | G | 68 | a0001c0003a0001c0004a0001c0009others(65): Show | 168 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(165): Show |
synonymous_variant | LOW | c.1551T>C | p.Gly517Gly | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1638/6028 | 1551/5622 | 517/1873 | chr1 | 201077947 | ||
chr1:201077950
|
C | T | 7 | a0002c0045a0002c0047a0002c0048others(4): Show | 7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
synonymous_variant | LOW | c.1548G>A | p.Ser516Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1635/6028 | 1548/5622 | 516/1873 | chr1 | 201077950 | ||
chr1:201077983
|
A | G | 9 | a0004c0006a0004c0043a0007c0036others(6): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
synonymous_variant | LOW | c.1515T>C | p.Cys505Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1602/6028 | 1515/5622 | 505/1873 | chr1 | 201077983 | ||
chr1:201077992
|
G | A | 1 | a0002c0074 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.1506C>T | p.Phe502Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1593/6028 | 1506/5622 | 502/1873 | chr1 | 201077992 | ||
chr1:201078007
|
G | A | 16 | a0001c0003a0001c0011a0001c0017others(13): Show | 47 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(44): Show |
synonymous_variant | LOW | c.1491C>T | p.Asn497Asn | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1578/6028 | 1491/5622 | 497/1873 | chr1 | 201078007 | ||
chr1:201078040
|
C | T | 1 | a0003c0082 | 1 | HG02148.hp1 | synonymous_variant | LOW | c.1458G>A | p.Leu486Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1545/6028 | 1458/5622 | 486/1873 | chr1 | 201078040 | ||
chr1:201078103
|
G | A | 1 | a0001c0031 | 2 | HG02074.hp2 HG02165.hp1 |
splice_region_variant&synonymous_variant | LOW | c.1395C>T | p.Asp465Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1482/6028 | 1395/5622 | 465/1873 | chr1 | 201078103 | ||
chr1:201083184
|
A | C | 9 | a0004c0006a0004c0043a0007c0036others(6): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
synonymous_variant | LOW | c.1371T>G | p.Pro457Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/44 | 1458/6028 | 1371/5622 | 457/1873 | chr1 | 201083184 | ||
chr1:201085443
|
G | A | 1 | a0002c0075 | 1 | NA19057.hp2 | synonymous_variant | LOW | c.1143C>T | p.Phe381Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/44 | 1230/6028 | 1143/5622 | 381/1873 | chr1 | 201085443 | ||
chr1:201089300
|
G | A | 5 | a0001c0033a0001c0079a0005c0078others(2): Show | 7 | HG02895.hp2 HG02897.hp2 HG03209.hp1 others(4): Show |
synonymous_variant | LOW | c.858C>T | p.Tyr286Tyr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 945/6028 | 858/5622 | 286/1873 | chr1 | 201089300 | ||
chr1:201091737
|
G | A | 26 | a0001c0002a0001c0003a0001c0021others(23): Show | 99 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
synonymous_variant | LOW | c.597C>T | p.Ile199Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/44 | 684/6028 | 597/5622 | 199/1873 | chr1 | 201091737 | ||
chr1:201093983
|
A | T | 1 | a0022c0041 | 1 | NA18989.hp1 | synonymous_variant | LOW | c.297T>A | p.Ile99Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/44 | 384/6028 | 297/5622 | 99/1873 | chr1 | 201093983 | ||
chr1:201110170
|
G | A | 1 | a0005c0094 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.252C>T | p.Leu84Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/44 | 339/6028 | 252/5622 | 84/1873 | chr1 | 201110170 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201039521
|
T | A | 1 | a0005c0022t0003 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*310A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 310 | chr1 | 201039521 | |||||
chr1:201112422
|
G | A | 9 | a0001c0001t0002a0001c0003t0002a0001c0007t0002others(6): Show | 10 | HG02040.hp1 HG02055.hp2 HG02886.hp2 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-83C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/44 | 83 | chr1 | 201112422 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201040428
|
A | G | 98 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0109others(95): Show | 101 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.5227-54T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 42/43 | chr1 | 201040428 | ||||||
chr1:201040769
|
T | C | 306 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(303): Show | 313 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
intron_variant | MODIFIER | c.5135-56A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 41/43 | chr1 | 201040769 | ||||||
chr1:201040779
|
G | A | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5135-66C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 41/43 | chr1 | 201040779 | ||||||
chr1:201041734
|
T | C | 156 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0109others(153): Show | 160 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.5049-145A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201041734 | ||||||
chr1:201041889
|
CT | C | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5049-301delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201041889 | ||||||
chr1:201042283
|
C | T | 5 | a0001c0002t0001g0050a0001c0002t0001g0178a0001c0003t0001g0166others(2): Show | 5 | HG02080.hp2 NA18960.hp1 NA19074.hp1 others(2): Show |
intron_variant | MODIFIER | c.5049-694G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042283 | ||||||
chr1:201042344
|
G | T | 2 | a0002c0072t0001g0266a0002c0089t0001g0054 | 2 | HG01109.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.5049-755C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042344 | ||||||
chr1:201042433
|
T | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.5049-844A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042433 | ||||||
chr1:201042467
|
C | T | 3 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120 | 3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.5048+814G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042467 | ||||||
chr1:201042609
|
G | T | 32 | a0001c0007t0001g0097a0001c0007t0001g0111a0001c0007t0001g0142others(29): Show | 33 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(30): Show |
intron_variant | MODIFIER | c.5048+672C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042609 | ||||||
chr1:201042696
|
G | A | 106 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0109others(103): Show | 109 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.5048+585C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042696 | ||||||
chr1:201042885
|
C | T | 23 | a0005c0022t0001g0260a0005c0022t0003g0258a0005c0024t0001g0257others(20): Show | 24 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.5048+396G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042885 | ||||||
chr1:201042912
|
AC | A | 44 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(41): Show | 45 | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.5048+368delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042912 | ||||||
chr1:201042914
|
C | A | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5048+367G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042914 | ||||||
chr1:201042916
|
A | T | 44 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(41): Show | 45 | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.5048+365T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042916 | ||||||
chr1:201043059
|
T | TGGGGCCA others(8): Show |
1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.5048+207_5048+221d others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043059 | ||||||
chr1:201043119
|
C | T | 37 | a0002c0008t0001g0038a0002c0008t0001g0218a0002c0008t0001g0220others(34): Show | 38 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.5048+162G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043119 | ||||||
chr1:201043160
|
C | T | 2 | a0001c0001t0001g0133a0001c0001t0001g0198 | 2 | NA18612.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.5048+121G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043160 | ||||||
chr1:201043241
|
C | A | 1 | a0001c0021t0001g0232 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.5048+40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043241 | ||||||
chr1:201043560
|
G | T | 1 | a0001c0002t0001g0147 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.4798-29C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043560 | ||||||
chr1:201043693
|
T | C | 1 | a0001c0002t0001g0231 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.4798-162A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043693 | ||||||
chr1:201043754
|
T | C | 2 | a0001c0014t0001g0252a0001c0017t0001g0107 | 2 | HG01884.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4798-223A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043754 | ||||||
chr1:201043767
|
C | A | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4798-236G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043767 | ||||||
chr1:201043809
|
C | T | 15 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(12): Show | 16 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.4798-278G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043809 | ||||||
chr1:201043840
|
G | A | 23 | a0001c0007t0001g0097a0001c0007t0001g0111a0001c0007t0001g0142others(20): Show | 23 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(20): Show |
intron_variant | MODIFIER | c.4798-309C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043840 | ||||||
chr1:201043964
|
G | A | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4797+364C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043964 | ||||||
chr1:201043991
|
G | A | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4797+337C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043991 | ||||||
chr1:201044208
|
T | C | 157 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0109others(154): Show | 161 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.4797+120A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201044208 | ||||||
chr1:201044226
|
C | A | 1 | a0001c0004t0001g0040 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4797+102G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201044226 | ||||||
chr1:201044563
|
T | C | 2 | a0014c0027t0001g0181a0014c0027t0001g0182 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4669-107A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044563 | ||||||
chr1:201044606
|
G | A | 84 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(81): Show | 85 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(82): Show |
intron_variant | MODIFIER | c.4669-150C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044606 | ||||||
chr1:201044716
|
G | T | 1 | a0023c0060t0001g0175 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4669-260C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044716 | ||||||
chr1:201044819
|
G | C | 157 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0109others(154): Show | 161 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.4669-363C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044819 | ||||||
chr1:201044893
|
T | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4669-437A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044893 | ||||||
chr1:201045480
|
A | G | 59 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(56): Show | 60 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.4669-1024T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045480 | ||||||
chr1:201045658
|
C | T | 4 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(1): Show | 5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.4669-1202G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045658 | ||||||
chr1:201045660
|
G | A | 1 | a0002c0010t0001g0117 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4669-1204C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045660 | ||||||
chr1:201045662
|
G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4669-1206C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045662 | ||||||
chr1:201045696
|
C | T | 7 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(4): Show | 7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4669-1240G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045696 | ||||||
chr1:201045711
|
G | A | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4669-1255C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045711 | ||||||
chr1:201045734
|
C | CA | 6 | a0001c0001t0001g0030a0001c0001t0001g0140a0001c0001t0001g0180others(3): Show | 6 | HG00544.hp1 HG01891.hp1 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.4669-1279dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | ||||||
chr1:201045734
|
CA | C | 232 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(229): Show | 238 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
intron_variant | MODIFIER | c.4669-1279delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | ||||||
chr1:201045734
|
CAA | C | 23 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(20): Show | 24 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.4669-1280_4669-127 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | ||||||
chr1:201045734
|
CAAAAAAA others(1): Show |
C | 7 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(4): Show | 7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4669-1286_4669-127 others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | ||||||
chr1:201045751
|
A | G | 3 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016 | 3 | HG03195.hp1 NA18906.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4669-1295T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045751 | ||||||
chr1:201045825
|
C | T | 2 | a0006c0071t0001g0039a0017c0093t0001g0246 | 2 | HG02559.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4668+1290G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045825 | ||||||
chr1:201045838
|
C | T | 16 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0002t0001g0124others(13): Show | 17 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.4668+1277G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045838 | ||||||
chr1:201045987
|
CAAAATA | C | 49 | a0002c0008t0001g0013a0002c0008t0001g0038a0002c0008t0001g0041others(46): Show | 50 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.4668+1122_4668+112 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045987 | ||||||
chr1:201046167
|
TTTATTTA | T | 35 | a0002c0008t0001g0038a0002c0008t0001g0218a0002c0008t0001g0220others(32): Show | 36 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.4668+941_4668+947d others(9): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046167 | ||||||
chr1:201046171
|
TTTA | T | 9 | a0005c0022t0001g0260a0005c0046t0001g0255a0005c0052t0001g0185others(6): Show | 9 | HG02145.hp1 HG02615.hp2 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4668+941_4668+943d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046171 | ||||||
chr1:201046174
|
A | AT | 10 | a0001c0014t0001g0011a0001c0017t0001g0047a0001c0017t0001g0052others(7): Show | 10 | HG01891.hp2 HG02723.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.4668+940dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | ||||||
chr1:201046174
|
A | ATTTAT | 55 | a0001c0007t0001g0097a0001c0007t0001g0111a0001c0007t0001g0142others(52): Show | 57 | HG00544.hp2 HG00558.hp2 HG01070.hp1 others(54): Show |
intron_variant | MODIFIER | c.4668+940_4668+941i others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | ||||||
chr1:201046174
|
A | ATTTATTT others(2): Show |
31 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(28): Show | 31 | HG00408.hp1 HG00597.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.4668+940_4668+941i others(11): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | ||||||
chr1:201046174
|
A | ATTTATTT others(6): Show |
1 | a0001c0001t0001g0297 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.4668+940_4668+941i others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | ||||||
chr1:201046187
|
T | C | 33 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(30): Show | 33 | HG00408.hp1 HG00597.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.4668+928A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046187 | ||||||
chr1:201046423
|
C | T | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4668+692G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046423 | ||||||
chr1:201046446
|
G | A | 1 | a0001c0001t0002g0304 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4668+669C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046446 | ||||||
chr1:201046476
|
TG | T | 44 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0030others(41): Show | 45 | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.4668+638delC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046476 | ||||||
chr1:201046655
|
C | G | 25 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0001t0001g0241others(22): Show | 26 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.4668+460G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046655 | ||||||
chr1:201046825
|
C | T | 1 | a0002c0012t0001g0256 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4668+290G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046825 | ||||||
chr1:201046914
|
C | T | 2 | a0001c0014t0001g0063a0001c0051t0001g0064 | 2 | HG03704.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.4668+201G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046914 | ||||||
chr1:201046996
|
G | C | 32 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(29): Show | 32 | HG00408.hp1 HG00597.hp1 HG01928.hp2 others(29): Show |
intron_variant | MODIFIER | c.4668+119C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046996 | ||||||
chr1:201047003
|
T | C | 1 | a0001c0001t0001g0183 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.4668+112A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201047003 | ||||||
chr1:201047096
|
A | G | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4668+19T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201047096 | ||||||
chr1:201047302
|
T | G | 1 | a0001c0003t0001g0160 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.4544-63A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 37/43 | chr1 | 201047302 | ||||||
chr1:201047518
|
C | T | 58 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(55): Show | 59 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(56): Show |
splice_region_variant&intron_variant | LOW | c.4543+7G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 37/43 | chr1 | 201047518 | ||||||
chr1:201047787
|
G | A | 1 | a0001c0002t0001g0115 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4442-161C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047787 | ||||||
chr1:201047855
|
C | T | 1 | a0001c0003t0001g0242 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.4442-229G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047855 | ||||||
chr1:201047890
|
C | T | 2 | a0003c0005t0001g0136a0003c0005t0001g0137 | 2 | NA18981.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.4442-264G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047890 | ||||||
chr1:201047903
|
T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-277A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047903 | ||||||
chr1:201047907
|
A | G | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-281T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047907 | ||||||
chr1:201047920
|
CCCCAGGC others(10): Show |
C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-311_4442-295d others(19): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047920 | ||||||
chr1:201047949
|
C | T | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-323G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047949 | ||||||
chr1:201047961
|
T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-335A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047961 | ||||||
chr1:201047981
|
T | A | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-355A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047981 | ||||||
chr1:201047985
|
T | G | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-359A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047985 | ||||||
chr1:201047989
|
G | T | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-363C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047989 | ||||||
chr1:201047991
|
C | A | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-365G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047991 | ||||||
chr1:201047992
|
T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-366A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047992 | ||||||
chr1:201048023
|
A | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-397T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048023 | ||||||
chr1:201048374
|
C | T | 1 | a0006c0088t0001g0237 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4441+208G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048374 | ||||||
chr1:201048474
|
T | G | 22 | a0005c0022t0001g0260a0005c0022t0003g0258a0005c0024t0001g0257others(19): Show | 23 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.4441+108A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048474 | ||||||
chr1:201048549
|
A | C | 2 | a0030c0069t0001g0081a0034c0095t0001g0235 | 2 | HG02258.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4441+33T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048549 | ||||||
chr1:201048559
|
C | CT | 49 | a0001c0001t0001g0035a0002c0008t0001g0013a0002c0008t0001g0038others(46): Show | 50 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.4441+22dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048559 | ||||||
chr1:201048930
|
C | A | 2 | a0001c0004t0001g0068a0001c0083t0001g0101 | 2 | HG01361.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.4338+73G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 35/43 | chr1 | 201048930 | ||||||
chr1:201048990
|
C | A | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4338+13G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 35/43 | chr1 | 201048990 | ||||||
chr1:201049334
|
T | G | 17 | a0005c0022t0001g0260a0005c0022t0003g0258a0005c0024t0001g0257others(14): Show | 17 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.4242-235A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049334 | ||||||
chr1:201049357
|
G | A | 5 | a0001c0001t0001g0240a0001c0001t0001g0271a0001c0001t0001g0276others(2): Show | 5 | HG00438.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.4242-258C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049357 | ||||||
chr1:201049493
|
T | C | 1 | a0001c0002t0001g0148 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.4242-394A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049493 | ||||||
chr1:201049563
|
G | T | 1 | a0002c0075t0001g0195 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.4242-464C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049563 | ||||||
chr1:201049818
|
T | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+571A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049818 | ||||||
chr1:201049850
|
A | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+539T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049850 | ||||||
chr1:201049911
|
G | A | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+478C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049911 | ||||||
chr1:201049931
|
C | T | 24 | a0001c0001t0001g0057a0001c0001t0001g0116a0001c0001t0001g0241others(21): Show | 25 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.4241+458G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049931 | ||||||
chr1:201049951
|
C | T | 7 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(4): Show | 7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4241+438G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049951 | ||||||
chr1:201049953
|
G | A | 5 | a0006c0055t0001g0290a0006c0066t0001g0196a0006c0085t0002g0299others(2): Show | 6 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.4241+436C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049953 | ||||||
chr1:201050206
|
C | T | 58 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(55): Show | 59 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.4241+183G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050206 | ||||||
chr1:201050234
|
G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4241+155C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050234 | ||||||
chr1:201050315
|
G | C | 4 | a0001c0002t0001g0050a0001c0003t0001g0166a0001c0003t0001g0212others(1): Show | 4 | NA18960.hp1 NA19074.hp1 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.4241+74C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050315 | ||||||
chr1:201050591
|
T | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4114-75A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050591 | ||||||
chr1:201050615
|
C | T | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4114-99G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050615 | ||||||
chr1:201050637
|
C | T | 1 | a0001c0002t0001g0277 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4114-121G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050637 | ||||||
chr1:201050705
|
G | A | 1 | a0001c0029t0001g0274 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.4114-189C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050705 | ||||||
chr1:201050706
|
T | C | 1 | a0001c0002t0001g0277 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4114-190A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050706 | ||||||
chr1:201050868
|
G | A | 5 | a0002c0008t0001g0275a0002c0012t0001g0245a0002c0072t0001g0266others(2): Show | 5 | HG01109.hp2 HG01884.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4113+116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050868 | ||||||
chr1:201050977
|
A | G | 282 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(279): Show | 288 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
splice_region_variant&intron_variant | LOW | c.4113+7T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050977 | ||||||
chr1:201051223
|
G | T | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3954-80C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051223 | ||||||
chr1:201051232
|
G | A | 7 | a0001c0013t0001g0007a0001c0013t0001g0292a0001c0013t0001g0293others(4): Show | 8 | HG00738.hp1 HG01081.hp1 HG01123.hp1 others(5): Show |
intron_variant | MODIFIER | c.3954-89C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051232 | ||||||
chr1:201051446
|
T | G | 281 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(278): Show | 287 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
intron_variant | MODIFIER | c.3954-303A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051446 | ||||||
chr1:201051599
|
A | G | 281 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(278): Show | 287 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
intron_variant | MODIFIER | c.3954-456T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051599 | ||||||
chr1:201051605
|
A | T | 1 | a0001c0070t0001g0120 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3954-462T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051605 | ||||||
chr1:201051689
|
C | A | 6 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(3): Show | 6 | HG02895.hp2 HG02897.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.3954-546G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051689 | ||||||
chr1:201051723
|
T | C | 138 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(135): Show | 141 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
intron_variant | MODIFIER | c.3954-580A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051723 | ||||||
chr1:201051763
|
G | T | 1 | a0001c0001t0001g0282 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.3954-620C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051763 | ||||||
chr1:201051984
|
G | A | 1 | a0004c0006t0001g0295 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3953+573C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051984 | ||||||
chr1:201052068
|
C | T | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3953+489G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052068 | ||||||
chr1:201052127
|
C | T | 4 | a0001c0033t0001g0082a0001c0033t0001g0251a0016c0032t0001g0267others(1): Show | 4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3953+430G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052127 | ||||||
chr1:201052233
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.3953+324G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052233 | ||||||
chr1:201052247
|
C | T | 12 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0032others(9): Show | 12 | HG01243.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.3953+310G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052247 | ||||||
chr1:201052392
|
C | T | 1 | a0002c0020t0001g0139 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3953+165G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052392 | ||||||
chr1:201052491
|
C | G | 82 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(79): Show | 84 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(81): Show |
intron_variant | MODIFIER | c.3953+66G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052491 | ||||||
chr1:201052550
|
C | T | 3 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120 | 3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
splice_region_variant&intron_variant | LOW | c.3953+7G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052550 | ||||||
chr1:201052551
|
G | A | 4 | a0001c0004t0001g0123a0001c0017t0001g0223a0001c0050t0001g0233others(1): Show | 4 | HG02717.hp2 HG02818.hp2 HG02922.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.3953+6C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052551 | ||||||
chr1:201052717
|
C | T | 1 | a0005c0078t0001g0226 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3862-69G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052717 | ||||||
chr1:201052861
|
G | A | 3 | a0001c0001t0001g0030a0001c0001t0001g0127a0001c0001t0001g0202 | 3 | HG00609.hp2 NA19003.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.3862-213C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052861 | ||||||
chr1:201052899
|
A | T | 4 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(1): Show | 5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.3862-251T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052899 | ||||||
chr1:201053041
|
A | C | 1 | a0001c0001t0001g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3861+168T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053041 | ||||||
chr1:201053078
|
T | C | 2 | a0002c0012t0001g0256a0002c0045t0001g0219 | 2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3861+131A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053078 | ||||||
chr1:201053195
|
C | T | 1 | a0036c0040t0001g0008 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3861+14G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053195 | ||||||
chr1:201053283
|
C | T | 1 | a0001c0063t0001g0193 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3796-9G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053283 | ||||||
chr1:201053343
|
G | C | 1 | a0004c0006t0001g0089 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3796-69C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053343 | ||||||
chr1:201053385
|
G | T | 3 | a0002c0012t0001g0270a0002c0023t0001g0227a0002c0023t0002g0300 | 3 | HG02717.hp1 HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3795+74C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053385 | ||||||
chr1:201053406
|
A | C | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3795+53T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053406 | ||||||
chr1:201053651
|
C | T | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3667-64G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053651 | ||||||
chr1:201053817
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3667-230G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053817 | ||||||
chr1:201053906
|
C | G | 137 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(134): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
intron_variant | MODIFIER | c.3667-319G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053906 | ||||||
chr1:201053950
|
C | T | 16 | a0005c0022t0001g0260a0005c0022t0003g0258a0005c0024t0001g0257others(13): Show | 16 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.3667-363G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053950 | ||||||
chr1:201053951
|
C | T | 271 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(268): Show | 277 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
intron_variant | MODIFIER | c.3667-364G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053951 | ||||||
chr1:201053970
|
T | C | 281 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(278): Show | 287 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
intron_variant | MODIFIER | c.3667-383A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053970 | ||||||
chr1:201053981
|
C | T | 16 | a0005c0022t0001g0260a0005c0022t0003g0258a0005c0024t0001g0257others(13): Show | 16 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.3667-394G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053981 | ||||||
chr1:201054308
|
C | T | 204 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(201): Show | 209 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
intron_variant | MODIFIER | c.3666+197G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201054308 | ||||||
chr1:201054366
|
C | T | 1 | a0001c0030t0001g0200 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.3666+139G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201054366 | ||||||
chr1:201054656
|
A | T | 1 | a0001c0007t0001g0111 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.3610-95T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054656 | ||||||
chr1:201054852
|
G | C | 280 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(277): Show | 286 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
intron_variant | MODIFIER | c.3610-291C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054852 | ||||||
chr1:201054898
|
G | A | 1 | a0004c0006t0001g0295 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3610-337C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054898 | ||||||
chr1:201054931
|
G | A | 282 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(279): Show | 288 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
intron_variant | MODIFIER | c.3610-370C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054931 | ||||||
chr1:201054964
|
T | C | 1 | a0001c0001t0001g0183 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3610-403A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054964 | ||||||
chr1:201055158
|
T | C | 1 | a0002c0010t0001g0102 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3610-597A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055158 | ||||||
chr1:201055193
|
G | T | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3610-632C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055193 | ||||||
chr1:201055458
|
C | T | 27 | a0001c0007t0001g0056a0001c0007t0001g0062a0001c0007t0001g0097others(24): Show | 27 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(24): Show |
intron_variant | MODIFIER | c.3610-897G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055458 | ||||||
chr1:201055821
|
C | T | 60 | a0001c0001t0001g0035a0001c0033t0001g0082a0001c0033t0001g0251others(57): Show | 61 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(58): Show |
intron_variant | MODIFIER | c.3610-1260G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055821 | ||||||
chr1:201055903
|
T | C | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3610-1342A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055903 | ||||||
chr1:201055928
|
G | A | 3 | a0002c0058t0001g0103a0002c0064t0001g0238a0007c0081t0001g0023 | 3 | HG01074.hp2 HG02257.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.3610-1367C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055928 | ||||||
chr1:201055946
|
T | A | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3610-1385A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055946 | ||||||
chr1:201056050
|
C | CACAG | 4 | a0001c0001t0001g0057a0008c0039t0001g0045a0008c0039t0002g0298others(1): Show | 4 | HG02886.hp2 HG02976.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1493_3610-149 others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056050 | ||||||
chr1:201056050
|
C | G | 65 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(62): Show | 66 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.3610-1489G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056050 | ||||||
chr1:201056066
|
G | GACACACA others(3): Show |
1 | a0002c0010t0001g0117 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3610-1506_3610-150 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056066 | ||||||
chr1:201056070
|
G | C | 5 | a0001c0004t0001g0018a0001c0004t0001g0040a0001c0009t0001g0053others(2): Show | 5 | HG02559.hp1 HG02965.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1509C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GAC | 5 | a0002c0048t0001g0234a0006c0066t0001g0196a0006c0088t0001g0237others(2): Show | 5 | HG00558.hp2 HG02004.hp2 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1511_3610-151 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACAC | 20 | a0001c0033t0001g0082a0001c0033t0001g0251a0002c0008t0001g0013others(17): Show | 22 | HG00639.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.3610-1513_3610-151 others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACAC | 27 | a0001c0001t0001g0201a0001c0001t0001g0217a0001c0001t0001g0247others(24): Show | 27 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(24): Show |
intron_variant | MODIFIER | c.3610-1515_3610-151 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(1): Show |
21 | a0001c0001t0001g0128a0001c0002t0001g0148a0001c0009t0001g0006others(18): Show | 22 | HG01070.hp2 HG01884.hp2 HG01928.hp2 others(19): Show |
intron_variant | MODIFIER | c.3610-1517_3610-151 others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(3): Show |
5 | a0001c0014t0001g0011a0001c0014t0001g0012a0001c0026t0001g0027others(2): Show | 5 | HG01891.hp1 HG01952.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.3610-1519_3610-151 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(5): Show |
19 | a0001c0001t0001g0109a0001c0001t0001g0248a0001c0002t0001g0277others(16): Show | 19 | HG02015.hp2 HG02040.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3610-1521_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(7): Show |
15 | a0001c0001t0001g0079a0001c0002t0001g0204a0001c0002t0001g0231others(12): Show | 15 | HG00544.hp2 HG02056.hp2 HG04115.hp1 others(12): Show |
intron_variant | MODIFIER | c.3610-1523_3610-151 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(9): Show |
5 | a0001c0002t0001g0119a0001c0007t0001g0097a0001c0007t0001g0179others(2): Show | 5 | NA18946.hp2 NA18969.hp2 NA19054.hp2 others(2): Show |
intron_variant | MODIFIER | c.3610-1525_3610-151 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
G | GACACACA others(11): Show |
2 | a0001c0021t0001g0207a0022c0041t0001g0044 | 2 | HG02056.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.3610-1527_3610-151 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056070
|
GAC | G | 3 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120 | 3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3610-1511_3610-151 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | ||||||
chr1:201056078
|
C | CACACACA others(9): Show |
1 | a0001c0011t0001g0015 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3610-1518_3610-151 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056078 | ||||||
chr1:201056078
|
C | CACACACA others(5): Show |
1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3610-1518_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056078 | ||||||
chr1:201056080
|
C | CACACACA others(7): Show |
4 | a0001c0004t0001g0059a0001c0009t0001g0262a0001c0011t0001g0014others(1): Show | 4 | HG01243.hp1 HG02486.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1520_3610-151 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056080 | ||||||
chr1:201056080
|
C | CACACACA others(5): Show |
1 | a0001c0004t0001g0025 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3610-1520_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056080 | ||||||
chr1:201056082
|
C | CACACACA others(6): Show |
1 | a0001c0001t0001g0090 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3610-1522_3610-152 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | ||||||
chr1:201056082
|
C | CACACACA others(5): Show |
120 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(117): Show | 123 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.3610-1522_3610-152 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | ||||||
chr1:201056082
|
C | CACACACA others(3): Show |
5 | a0001c0001t0001g0240a0001c0001t0001g0271a0001c0001t0001g0276others(2): Show | 5 | HG00438.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1522_3610-152 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | ||||||
chr1:201056084
|
C | CACACACA others(3): Show |
1 | a0001c0017t0001g0107 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3610-1524_3610-152 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056084 | ||||||
chr1:201056147
|
C | T | 3 | a0001c0004t0001g0040a0001c0009t0001g0053a0017c0093t0001g0246 | 3 | HG02647.hp2 HG02965.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3610-1586G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056147 | ||||||
chr1:201056215
|
G | T | 4 | a0001c0004t0001g0123a0001c0017t0001g0223a0001c0050t0001g0233others(1): Show | 4 | HG02717.hp2 HG02818.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1654C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056215 | ||||||
chr1:201056399
|
A | C | 2 | a0002c0074t0001g0249a0030c0069t0001g0081 | 2 | HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3610-1838T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056399 | ||||||
chr1:201056503
|
A | G | 2 | a0002c0074t0001g0249a0030c0069t0001g0081 | 2 | HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3609+1905T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056503 | ||||||
chr1:201056554
|
C | A | 141 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(138): Show | 144 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
intron_variant | MODIFIER | c.3609+1854G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056554 | ||||||
chr1:201056567
|
C | A | 142 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(139): Show | 145 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
intron_variant | MODIFIER | c.3609+1841G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056567 | ||||||
chr1:201056684
|
C | A | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1724G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056684 | ||||||
chr1:201056685
|
A | C | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1723T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056685 | ||||||
chr1:201056722
|
C | T | 262 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(259): Show | 267 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
intron_variant | MODIFIER | c.3609+1686G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056722 | ||||||
chr1:201056812
|
T | C | 25 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(22): Show | 25 | HG00408.hp1 HG00597.hp1 HG01928.hp2 others(22): Show |
intron_variant | MODIFIER | c.3609+1596A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056812 | ||||||
chr1:201056841
|
C | G | 6 | a0001c0007t0001g0062a0001c0007t0001g0162a0001c0007t0001g0179others(3): Show | 6 | HG02056.hp2 NA18612.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.3609+1567G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056841 | ||||||
chr1:201057014
|
G | T | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1394C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057014 | ||||||
chr1:201057159
|
C | A | 25 | a0001c0007t0001g0056a0001c0007t0001g0062a0001c0007t0001g0097others(22): Show | 25 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(22): Show |
intron_variant | MODIFIER | c.3609+1249G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057159 | ||||||
chr1:201057179
|
T | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3609+1229A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057179 | ||||||
chr1:201057206
|
A | T | 1 | a0001c0030t0001g0200 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.3609+1202T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057206 | ||||||
chr1:201057626
|
C | T | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+782G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057626 | ||||||
chr1:201057759
|
G | A | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+649C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057759 | ||||||
chr1:201057788
|
T | C | 258 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(255): Show | 263 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
intron_variant | MODIFIER | c.3609+620A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057788 | ||||||
chr1:201057812
|
AT | A | 249 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(246): Show | 253 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
intron_variant | MODIFIER | c.3609+595delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057812 | ||||||
chr1:201057916
|
G | A | 1 | a0001c0009t0001g0186 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3609+492C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057916 | ||||||
chr1:201057927
|
C | T | 146 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(143): Show | 149 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(146): Show |
intron_variant | MODIFIER | c.3609+481G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057927 | ||||||
chr1:201057948
|
C | T | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+460G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057948 | ||||||
chr1:201058192
|
A | G | 4 | a0001c0014t0001g0011a0001c0014t0001g0012a0015c0028t0001g0058others(1): Show | 4 | HG02109.hp2 HG03139.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.3609+216T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201058192 | ||||||
chr1:201058521
|
G | C | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3526-30C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058521 | ||||||
chr1:201058688
|
T | C | 4 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(1): Show | 5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.3526-197A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058688 | ||||||
chr1:201058723
|
G | A | 8 | a0002c0008t0001g0275a0002c0012t0001g0245a0002c0012t0001g0261others(5): Show | 8 | HG01109.hp2 HG01884.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.3526-232C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058723 | ||||||
chr1:201058820
|
G | C | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3526-329C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058820 | ||||||
chr1:201059140
|
C | A | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3525+49G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201059140 | ||||||
chr1:201059328
|
CA | C | 4 | a0001c0033t0001g0082a0001c0033t0001g0251a0016c0032t0001g0267others(1): Show | 4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3415-30delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059328 | ||||||
chr1:201059338
|
G | A | 21 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(18): Show | 21 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.3415-39C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059338 | ||||||
chr1:201059373
|
C | T | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3415-74G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059373 | ||||||
chr1:201059582
|
A | G | 2 | a0003c0057t0001g0291a0003c0086t0001g0093 | 2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.3415-283T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059582 | ||||||
chr1:201059706
|
C | A | 4 | a0002c0008t0001g0013a0002c0008t0001g0041a0002c0008t0001g0042others(1): Show | 4 | HG01891.hp2 HG02647.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.3415-407G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059706 | ||||||
chr1:201059892
|
T | C | 1 | a0004c0006t0001g0074 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3415-593A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059892 | ||||||
chr1:201060059
|
C | T | 3 | a0002c0012t0001g0194a0007c0036t0001g0287a0011c0034t0001g0001 | 4 | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.3414+599G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060059 | ||||||
chr1:201060085
|
T | C | 42 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0262others(39): Show | 43 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3414+573A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060085 | ||||||
chr1:201060216
|
C | T | 1 | a0004c0006t0001g0089 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3414+442G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060216 | ||||||
chr1:201060303
|
T | C | 142 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(139): Show | 146 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
intron_variant | MODIFIER | c.3414+355A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060303 | ||||||
chr1:201060591
|
T | TCATCCTG others(7): Show |
31 | a0001c0001t0001g0151a0001c0007t0001g0056a0001c0007t0001g0062others(28): Show | 31 | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(28): Show |
intron_variant | MODIFIER | c.3414+53_3414+66dup others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060591 | ||||||
chr1:201060832
|
C | T | 2 | a0001c0013t0001g0007a0001c0013t0001g0296 | 3 | HG01123.hp1 HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3256-16G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060832 | ||||||
chr1:201060856
|
C | A | 3 | a0002c0008t0001g0013a0002c0008t0001g0041a0002c0008t0001g0042 | 3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3256-40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060856 | ||||||
chr1:201060995
|
C | T | 2 | a0014c0027t0001g0181a0014c0027t0001g0182 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3256-179G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060995 | ||||||
chr1:201061010
|
G | A | 48 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0004t0001g0040others(45): Show | 49 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.3256-194C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061010 | ||||||
chr1:201061082
|
C | G | 4 | a0001c0033t0001g0082a0001c0033t0001g0251a0016c0032t0001g0267others(1): Show | 4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3255+185G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061082 | ||||||
chr1:201061134
|
G | A | 1 | a0001c0001t0001g0132 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3255+133C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061134 | ||||||
chr1:201061199
|
C | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3255+68G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061199 | ||||||
chr1:201061540
|
G | A | 110 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(107): Show | 112 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.3054-72C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061540 | ||||||
chr1:201061616
|
G | A | 3 | a0001c0009t0001g0262a0002c0074t0001g0249a0030c0069t0001g0081 | 3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3054-148C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061616 | ||||||
chr1:201061796
|
A | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3053+148T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061796 | ||||||
chr1:201061860
|
C | T | 41 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0262others(38): Show | 42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3053+84G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061860 | ||||||
chr1:201061931
|
A | G | 4 | a0002c0008t0001g0038a0002c0010t0001g0117a0029c0087t0001g0019others(1): Show | 4 | HG01070.hp2 HG01175.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.3053+13T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061931 | ||||||
chr1:201062179
|
A | C | 187 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(184): Show | 191 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
intron_variant | MODIFIER | c.2907-89T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062179 | ||||||
chr1:201062307
|
C | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2906+155G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062307 | ||||||
chr1:201062320
|
C | A | 2 | a0001c0002t0001g0147a0001c0002t0001g0204 | 2 | NA19078.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.2906+142G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062320 | ||||||
chr1:201062603
|
G | C | 26 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0132others(23): Show | 26 | HG00408.hp1 HG00597.hp1 HG01952.hp2 others(23): Show |
intron_variant | MODIFIER | c.2854-89C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062603 | ||||||
chr1:201062603
|
G | T | 1 | a0001c0002t0001g0115 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2854-89C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062603 | ||||||
chr1:201062865
|
C | T | 2 | a0002c0012t0001g0261a0002c0045t0001g0219 | 2 | HG02145.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.2854-351G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062865 | ||||||
chr1:201062898
|
G | C | 50 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0004t0001g0040others(47): Show | 51 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.2854-384C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062898 | ||||||
chr1:201062907
|
C | T | 1 | a0003c0005t0001g0281 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2854-393G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062907 | ||||||
chr1:201063073
|
G | A | 2 | a0002c0012t0001g0261a0002c0045t0001g0219 | 2 | HG02145.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.2854-559C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063073 | ||||||
chr1:201063081
|
T | G | 3 | a0001c0001t0001g0230a0001c0002t0001g0077a0001c0002t0001g0272 | 3 | HG02698.hp2 HG03831.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.2854-567A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063081 | ||||||
chr1:201063088
|
G | T | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2854-574C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063088 | ||||||
chr1:201063131
|
C | CT | 6 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(3): Show | 7 | HG02109.hp2 HG02451.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.2854-618dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063131 | ||||||
chr1:201063145
|
T | C | 6 | a0001c0001t0001g0230a0001c0004t0001g0123a0001c0009t0001g0186others(3): Show | 6 | HG02698.hp2 HG02717.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.2854-631A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063145 | ||||||
chr1:201063145
|
T | TC | 131 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(128): Show | 134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.2854-632dupG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063145 | ||||||
chr1:201063183
|
A | T | 111 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(108): Show | 113 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.2854-669T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063183 | ||||||
chr1:201063340
|
A | T | 41 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0262others(38): Show | 42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-826T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063340 | ||||||
chr1:201063410
|
C | T | 41 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0262others(38): Show | 42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-896G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063410 | ||||||
chr1:201063471
|
G | A | 24 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0132others(21): Show | 24 | HG00408.hp1 HG00597.hp1 HG01952.hp2 others(21): Show |
intron_variant | MODIFIER | c.2854-957C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063471 | ||||||
chr1:201063585
|
A | G | 3 | a0002c0058t0001g0103a0002c0064t0001g0238a0007c0081t0001g0023 | 3 | HG01074.hp2 HG02257.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2854-1071T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063585 | ||||||
chr1:201063609
|
G | T | 41 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0262others(38): Show | 42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-1095C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063609 | ||||||
chr1:201063680
|
G | A | 1 | a0001c0011t0001g0016 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2854-1166C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063680 | ||||||
chr1:201063808
|
C | T | 4 | a0008c0039t0001g0045a0008c0039t0002g0298a0008c0077t0001g0010others(1): Show | 4 | HG02258.hp2 HG02886.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2854-1294G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063808 | ||||||
chr1:201063813
|
G | A | 3 | a0002c0008t0001g0013a0002c0008t0001g0041a0002c0008t0001g0042 | 3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2854-1299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063813 | ||||||
chr1:201063933
|
C | T | 1 | a0024c0061t0001g0190 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2854-1419G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063933 | ||||||
chr1:201064191
|
C | G | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2853+1647G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064191 | ||||||
chr1:201064238
|
A | G | 3 | a0001c0009t0001g0262a0002c0074t0001g0249a0030c0069t0001g0081 | 3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2853+1600T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064238 | ||||||
chr1:201064487
|
C | T | 3 | a0001c0009t0001g0262a0002c0074t0001g0249a0030c0069t0001g0081 | 3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2853+1351G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064487 | ||||||
chr1:201064592
|
G | A | 79 | a0001c0001t0001g0128a0001c0001t0001g0151a0001c0001t0001g0217others(76): Show | 81 | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(78): Show |
intron_variant | MODIFIER | c.2853+1246C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064592 | ||||||
chr1:201064951
|
C | G | 29 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0006others(26): Show | 30 | HG00621.hp2 HG01070.hp2 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.2853+887G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064951 | ||||||
chr1:201065048
|
C | A | 1 | a0001c0004t0001g0208 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2853+790G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065048 | ||||||
chr1:201065144
|
C | T | 40 | a0001c0001t0001g0128a0001c0001t0001g0217a0001c0009t0001g0006others(37): Show | 41 | HG00621.hp2 HG01070.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.2853+694G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065144 | ||||||
chr1:201065147
|
G | A | 1 | a0002c0008t0001g0275 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2853+691C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065147 | ||||||
chr1:201065408
|
T | C | 78 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0128others(75): Show | 80 | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(77): Show |
intron_variant | MODIFIER | c.2853+430A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065408 | ||||||
chr1:201065520
|
A | T | 65 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0132others(62): Show | 65 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2853+318T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065520 | ||||||
chr1:201065702
|
C | T | 1 | a0005c0046t0001g0255 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2853+136G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065702 | ||||||
chr1:201065739
|
G | A | 21 | a0001c0014t0001g0011a0001c0014t0001g0012a0001c0033t0001g0082others(18): Show | 21 | HG01074.hp2 HG02109.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.2853+99C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065739 | ||||||
chr1:201065807
|
G | T | 1 | a0003c0005t0001g0161 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2853+31C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065807 | ||||||
chr1:201065959
|
G | A | 6 | a0001c0003t0001g0072a0006c0066t0001g0196a0006c0088t0001g0237others(3): Show | 6 | HG00558.hp2 HG01175.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2746-14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201065959 | ||||||
chr1:201065970
|
A | G | 8 | a0002c0008t0001g0218a0002c0008t0001g0220a0002c0008t0001g0221others(5): Show | 8 | HG01074.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2746-25T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201065970 | ||||||
chr1:201066151
|
G | A | 1 | a0003c0005t0001g0094 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2745+78C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201066151 | ||||||
chr1:201066215
|
G | A | 4 | a0001c0033t0001g0082a0001c0033t0001g0251a0016c0032t0001g0267others(1): Show | 4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.2745+14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201066215 | ||||||
chr1:201066360
|
A | T | 4 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0074t0001g0249others(1): Show | 4 | HG02109.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2658-44T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066360 | ||||||
chr1:201066390
|
C | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2658-74G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066390 | ||||||
chr1:201066460
|
C | T | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2658-144G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066460 | ||||||
chr1:201066479
|
G | T | 106 | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0001g0132others(103): Show | 108 | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(105): Show |
intron_variant | MODIFIER | c.2658-163C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066479 | ||||||
chr1:201066522
|
A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2658-206T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066522 | ||||||
chr1:201066574
|
T | C | 1 | a0001c0002t0001g0051 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2658-258A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066574 | ||||||
chr1:201066577
|
G | A | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2658-261C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066577 | ||||||
chr1:201066593
|
G | A | 1 | a0001c0002t0001g0119 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.2658-277C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066593 | ||||||
chr1:201066770
|
C | T | 7 | a0001c0001t0001g0151a0001c0004t0001g0029a0001c0004t0001g0071others(4): Show | 7 | HG00597.hp2 HG01168.hp1 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.2657+117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066770 | ||||||
chr1:201067069
|
G | A | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2551-76C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067069 | ||||||
chr1:201067132
|
A | G | 1 | a0025c0059t0001g0083 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2551-139T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067132 | ||||||
chr1:201067185
|
T | C | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2551-192A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067185 | ||||||
chr1:201067279
|
G | C | 25 | a0001c0001t0001g0151a0001c0007t0001g0056a0001c0007t0001g0062others(22): Show | 25 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.2551-286C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067279 | ||||||
chr1:201067340
|
T | G | 4 | a0001c0033t0001g0082a0001c0033t0001g0251a0016c0032t0001g0267others(1): Show | 4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.2551-347A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067340 | ||||||
chr1:201067516
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2551-523T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067516 | ||||||
chr1:201067551
|
C | T | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2551-558G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067551 | ||||||
chr1:201067608
|
G | A | 25 | a0001c0001t0001g0151a0001c0007t0001g0056a0001c0007t0001g0062others(22): Show | 25 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.2551-615C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067608 | ||||||
chr1:201067808
|
G | A | 13 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(10): Show | 15 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(12): Show |
intron_variant | MODIFIER | c.2551-815C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067808 | ||||||
chr1:201067826
|
C | G | 1 | a0004c0006t0001g0205 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2551-833G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067826 | ||||||
chr1:201067941
|
T | C | 256 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(253): Show | 262 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
intron_variant | MODIFIER | c.2551-948A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067941 | ||||||
chr1:201067955
|
C | T | 9 | a0005c0044t0001g0286a0005c0054t0001g0177a0006c0055t0001g0290others(6): Show | 10 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2551-962G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067955 | ||||||
chr1:201067956
|
G | A | 2 | a0001c0001t0001g0030a0001c0001t0001g0202 | 2 | NA19003.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.2551-963C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067956 | ||||||
chr1:201067986
|
T | C | 1 | a0002c0047t0001g0187 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2551-993A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067986 | ||||||
chr1:201068008
|
C | T | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2551-1015G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068008 | ||||||
chr1:201068039
|
A | G | 3 | a0008c0039t0001g0045a0008c0039t0002g0298a0034c0095t0001g0235 | 3 | HG02258.hp2 HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2551-1046T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068039 | ||||||
chr1:201068042
|
T | C | 1 | a0002c0012t0001g0256 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2551-1049A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068042 | ||||||
chr1:201068071
|
C | T | 5 | a0002c0045t0001g0219a0005c0022t0001g0260a0009c0018t0001g0165others(2): Show | 5 | HG02145.hp1 HG03098.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.2550+1066G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068071 | ||||||
chr1:201068084
|
G | A | 23 | a0001c0001t0001g0151a0001c0004t0001g0040a0001c0007t0001g0097others(20): Show | 23 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.2550+1053C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068084 | ||||||
chr1:201068179
|
A | G | 54 | a0001c0001t0001g0151a0001c0001t0001g0282a0001c0004t0001g0040others(51): Show | 55 | HG00544.hp2 HG00597.hp2 HG01109.hp2 others(52): Show |
intron_variant | MODIFIER | c.2550+958T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068179 | ||||||
chr1:201068192
|
G | A | 1 | a0002c0012t0001g0194 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2550+945C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068192 | ||||||
chr1:201068222
|
G | A | 1 | a0036c0040t0001g0008 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2550+915C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068222 | ||||||
chr1:201068231
|
C | CT | 15 | a0001c0002t0001g0147a0001c0003t0001g0072a0001c0003t0001g0153others(12): Show | 15 | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.2550+905dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CT | C | 157 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0021others(154): Show | 160 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
intron_variant | MODIFIER | c.2550+905delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTT | C | 34 | a0001c0001t0001g0155a0001c0001t0001g0276a0001c0009t0001g0186others(31): Show | 35 | HG01070.hp1 HG01071.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.2550+904_2550+905d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTT | C | 7 | a0002c0023t0001g0227a0002c0023t0002g0300a0005c0094t0001g0263others(4): Show | 7 | HG02055.hp1 HG02647.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.2550+903_2550+905d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTTT | C | 19 | a0001c0001t0001g0151a0001c0007t0001g0097a0001c0007t0001g0111others(16): Show | 19 | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.2550+902_2550+905d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTTTT | C | 15 | a0001c0001t0001g0282a0001c0004t0001g0040a0001c0009t0001g0053others(12): Show | 16 | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.2550+901_2550+905d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTTTTT | C | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2550+900_2550+905d others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTTTTTT others(3): Show |
C | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2550+896_2550+905d others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068231
|
CTTTTTTT others(6): Show |
C | 2 | a0001c0030t0001g0171a0001c0030t0001g0200 | 2 | HG00408.hp2 HG02040.hp2 |
intron_variant | MODIFIER | c.2550+893_2550+905d others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | ||||||
chr1:201068232
|
T | C | 2 | a0001c0050t0001g0233a0001c0079t0001g0269 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2550+905A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068232 | ||||||
chr1:201068270
|
G | GTC | 3 | a0002c0008t0001g0013a0002c0008t0001g0041a0002c0008t0001g0042 | 3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2550+865_2550+866d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068270 | ||||||
chr1:201068278
|
C | CTT | 20 | a0001c0009t0001g0006a0001c0009t0001g0262a0001c0009t0001g0264others(17): Show | 22 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.2550+858_2550+859i others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068278 | ||||||
chr1:201068278
|
C | T | 4 | a0001c0013t0001g0007a0001c0013t0001g0292a0001c0013t0001g0293others(1): Show | 5 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.2550+859G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068278 | ||||||
chr1:201068297
|
C | T | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2550+840G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068297 | ||||||
chr1:201068329
|
G | A | 8 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120others(5): Show | 8 | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.2550+808C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068329 | ||||||
chr1:201068353
|
C | T | 5 | a0001c0013t0001g0007a0001c0013t0001g0292a0001c0013t0001g0293others(2): Show | 6 | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.2550+784G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068353 | ||||||
chr1:201068367
|
T | C | 2 | a0001c0001t0001g0098a0001c0002t0001g0231 | 2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2550+770A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068367 | ||||||
chr1:201068374
|
T | C | 3 | a0001c0001t0001g0133a0001c0003t0001g0210a0001c0003t0002g0307 | 3 | NA18967.hp2 NA19070.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.2550+763A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068374 | ||||||
chr1:201068480
|
T | C | 1 | a0001c0001t0001g0021 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2550+657A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068480 | ||||||
chr1:201068486
|
G | A | 1 | a0002c0010t0001g0215 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2550+651C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068486 | ||||||
chr1:201068512
|
G | A | 3 | a0002c0020t0001g0134a0002c0020t0001g0135a0003c0005t0001g0281 | 3 | HG02165.hp2 NA19054.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.2550+625C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068512 | ||||||
chr1:201068570
|
T | C | 12 | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(9): Show | 12 | HG01891.hp2 HG02055.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.2550+567A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068570 | ||||||
chr1:201068584
|
G | C | 107 | a0001c0001t0001g0079a0001c0001t0001g0151a0001c0001t0001g0163others(104): Show | 109 | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(106): Show |
intron_variant | MODIFIER | c.2550+553C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068584 | ||||||
chr1:201068600
|
A | C | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2550+537T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068600 | ||||||
chr1:201068610
|
T | C | 69 | a0001c0001t0001g0003a0001c0001t0001g0080a0001c0001t0001g0088others(66): Show | 72 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.2550+527A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068610 | ||||||
chr1:201068638
|
T | C | 4 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(1): Show | 4 | HG02055.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2550+499A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068638 | ||||||
chr1:201068643
|
T | C | 4 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(1): Show | 4 | HG02055.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2550+494A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068643 | ||||||
chr1:201068707
|
T | C | 3 | a0001c0001t0001g0031a0001c0001t0001g0128a0001c0001t0001g0217 | 3 | HG01928.hp2 HG02293.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.2550+430A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068707 | ||||||
chr1:201068740
|
CAG | C | 3 | a0001c0009t0001g0186a0001c0009t0001g0259a0002c0012t0001g0270 | 3 | HG02717.hp1 HG03453.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2550+395_2550+396d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068740 | ||||||
chr1:201068741
|
A | G | 6 | a0001c0033t0001g0082a0001c0033t0001g0251a0002c0047t0001g0187others(3): Show | 6 | HG02258.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.2550+396T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068741 | ||||||
chr1:201068830
|
C | T | 1 | a0006c0088t0001g0237 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2550+307G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068830 | ||||||
chr1:201068834
|
T | C | 209 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(206): Show | 216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.2550+303A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068834 | ||||||
chr1:201069120
|
C | T | 2 | a0001c0031t0001g0048a0001c0031t0001g0209 | 2 | HG02074.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.2550+17G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201069120 | ||||||
chr1:201069345
|
T | C | 4 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120others(1): Show | 4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2490+127A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/43 | chr1 | 201069345 | ||||||
chr1:201069373
|
T | C | 2 | a0001c0003t0001g0005a0001c0003t0001g0072 | 3 | HG01167.hp2 HG01169.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.2490+99A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/43 | chr1 | 201069373 | ||||||
chr1:201069614
|
G | A | 4 | a0005c0044t0001g0286a0005c0052t0001g0185a0017c0093t0001g0246others(1): Show | 4 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.2361-13C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069614 | ||||||
chr1:201069870
|
T | G | 1 | a0001c0017t0001g0107 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2361-269A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069870 | ||||||
chr1:201069991
|
A | G | 4 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120others(1): Show | 4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2360+281T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069991 | ||||||
chr1:201070521
|
C | T | 2 | a0003c0005t0001g0136a0003c0005t0001g0137 | 2 | NA18981.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.2228-117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070521 | ||||||
chr1:201070752
|
G | T | 34 | a0001c0009t0001g0006a0001c0009t0001g0053a0001c0009t0001g0186others(31): Show | 35 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.2228-348C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070752 | ||||||
chr1:201070770
|
G | C | 1 | a0001c0001t0001g0241 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2228-366C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070770 | ||||||
chr1:201070785
|
C | T | 3 | a0001c0014t0001g0252a0005c0024t0001g0257a0005c0024t0002g0301 | 3 | HG01884.hp1 HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2228-381G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070785 | ||||||
chr1:201071052
|
A | G | 264 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(261): Show | 271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.2228-648T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071052 | ||||||
chr1:201071156
|
C | G | 1 | a0001c0001t0001g0271 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.2228-752G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071156 | ||||||
chr1:201071319
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2228-915C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071319 | ||||||
chr1:201071324
|
G | A | 1 | a0003c0015t0001g0118 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2228-920C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071324 | ||||||
chr1:201071324
|
G | C | 3 | a0002c0008t0001g0013a0002c0008t0001g0041a0002c0008t0001g0042 | 3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2228-920C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071324 | ||||||
chr1:201071366
|
C | T | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2228-962G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071366 | ||||||
chr1:201071440
|
C | T | 1 | a0003c0005t0001g0149 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2228-1036G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071440 | ||||||
chr1:201071618
|
A | G | 30 | a0001c0009t0001g0006a0001c0009t0001g0053a0001c0009t0001g0186others(27): Show | 31 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.2227+1137T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071618 | ||||||
chr1:201071727
|
G | A | 5 | a0001c0017t0001g0107a0005c0044t0001g0286a0005c0052t0001g0185others(2): Show | 5 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2227+1028C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071727 | ||||||
chr1:201071765
|
T | C | 2 | a0002c0045t0001g0219a0019c0042t0001g0009 | 2 | HG03098.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2227+990A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071765 | ||||||
chr1:201071889
|
A | G | 1 | a0001c0001t0001g0003 | 2 | HG02258.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.2227+866T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071889 | ||||||
chr1:201072064
|
T | C | 3 | a0001c0017t0001g0223a0002c0045t0001g0219a0002c0072t0001g0266 | 3 | HG01109.hp2 HG02922.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2227+691A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072064 | ||||||
chr1:201072070
|
G | A | 26 | a0002c0012t0001g0194a0002c0074t0001g0249a0004c0006t0001g0022others(23): Show | 28 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.2227+685C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072070 | ||||||
chr1:201072113
|
T | C | 264 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(261): Show | 271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.2227+642A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072113 | ||||||
chr1:201072155
|
C | T | 1 | a0001c0002t0001g0272 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2227+600G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072155 | ||||||
chr1:201072236
|
G | A | 25 | a0002c0012t0001g0194a0004c0006t0001g0022a0004c0006t0001g0024others(22): Show | 27 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.2227+519C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072236 | ||||||
chr1:201072352
|
A | G | 231 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(228): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
intron_variant | MODIFIER | c.2227+403T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072352 | ||||||
chr1:201072456
|
G | A | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2227+299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072456 | ||||||
chr1:201072509
|
C | G | 2 | a0003c0057t0001g0291a0006c0055t0001g0290 | 2 | HG00323.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2227+246G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072509 | ||||||
chr1:201072534
|
T | C | 30 | a0001c0009t0001g0006a0001c0009t0001g0053a0001c0009t0001g0186others(27): Show | 31 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.2227+221A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072534 | ||||||
chr1:201072715
|
C | A | 1 | a0001c0007t0001g0111 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2227+40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072715 | ||||||
chr1:201072928
|
T | C | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2158-104A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201072928 | ||||||
chr1:201073025
|
C | T | 37 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0143others(34): Show | 38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2158-201G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073025 | ||||||
chr1:201073127
|
G | A | 1 | a0001c0001t0001g0201 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2158-303C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073127 | ||||||
chr1:201073140
|
C | T | 37 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0143others(34): Show | 38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2158-316G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073140 | ||||||
chr1:201073186
|
T | A | 1 | a0001c0001t0001g0151 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2158-362A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073186 | ||||||
chr1:201073198
|
T | C | 226 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(223): Show | 232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.2157+351A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073198 | ||||||
chr1:201073247
|
G | A | 1 | a0027c0065t0001g0113 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2157+302C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073247 | ||||||
chr1:201073316
|
C | T | 2 | a0008c0039t0001g0045a0008c0039t0002g0298 | 2 | HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2157+233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073316 | ||||||
chr1:201073348
|
TCTG | T | 226 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(223): Show | 232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.2157+198_2157+200d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073348 | ||||||
chr1:201073490
|
G | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(191): Show | 198 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.2157+59C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073490 | ||||||
chr1:201073828
|
G | A | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2064-186C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073828 | ||||||
chr1:201073855
|
G | A | 139 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(136): Show | 141 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.2064-213C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073855 | ||||||
chr1:201073888
|
T | C | 1 | a0001c0001t0001g0150 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2064-246A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073888 | ||||||
chr1:201074019
|
C | T | 1 | a0001c0001t0001g0140 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.2064-377G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074019 | ||||||
chr1:201074076
|
G | A | 5 | a0001c0017t0001g0107a0005c0044t0001g0286a0005c0052t0001g0185others(2): Show | 5 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2063+430C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074076 | ||||||
chr1:201074173
|
C | T | 196 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(193): Show | 200 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
intron_variant | MODIFIER | c.2063+333G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074173 | ||||||
chr1:201074174
|
GC | G | 24 | a0002c0012t0001g0194a0004c0006t0001g0022a0004c0006t0001g0024others(21): Show | 26 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.2063+331delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074174 | ||||||
chr1:201074181
|
G | A | 1 | a0001c0001t0001g0146 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2063+325C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074181 | ||||||
chr1:201074188
|
C | T | 54 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0143others(51): Show | 56 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.2063+318G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074188 | ||||||
chr1:201074231
|
C | T | 3 | a0001c0009t0001g0262a0005c0078t0001g0226a0008c0077t0001g0010 | 3 | HG01243.hp1 HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2063+275G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074231 | ||||||
chr1:201074253
|
G | A | 3 | a0001c0014t0001g0252a0005c0024t0001g0257a0005c0024t0002g0301 | 3 | HG01884.hp1 HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2063+253C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074253 | ||||||
chr1:201074463
|
C | T | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2063+43G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074463 | ||||||
chr1:201074499
|
C | A | 1 | a0020c0076t0001g0087 | 1 | HG00280.hp1 | splice_region_variant&intron_variant | LOW | c.2063+7G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074499 | ||||||
chr1:201074717
|
ACT | A | 231 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(228): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
intron_variant | MODIFIER | c.1949-99_1949-98del others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201074717 | ||||||
chr1:201074969
|
T | C | 230 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(227): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
intron_variant | MODIFIER | c.1949-349A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201074969 | ||||||
chr1:201075135
|
T | A | 2 | a0001c0050t0001g0233a0001c0079t0001g0269 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1948+360A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075135 | ||||||
chr1:201075175
|
G | A | 27 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0032others(24): Show | 27 | HG00609.hp1 HG01243.hp2 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.1948+320C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075175 | ||||||
chr1:201075216
|
C | T | 196 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(193): Show | 200 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
intron_variant | MODIFIER | c.1948+279G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075216 | ||||||
chr1:201075267
|
GCTGTAGC others(9): Show |
G | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1948+212_1948+227d others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075267 | ||||||
chr1:201075620
|
A | G | 231 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(228): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
splice_region_variant&intron_variant | LOW | c.1828-5T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075620 | ||||||
chr1:201075669
|
C | G | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1828-54G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075669 | ||||||
chr1:201075672
|
T | C | 4 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120others(1): Show | 4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1828-57A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075672 | ||||||
chr1:201075865
|
C | T | 1 | a0030c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1828-250G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075865 | ||||||
chr1:201075984
|
C | T | 2 | a0002c0020t0001g0134a0002c0020t0001g0135 | 2 | NA19054.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.1828-369G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075984 | ||||||
chr1:201076015
|
C | T | 1 | a0001c0026t0001g0065 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1828-400G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076015 | ||||||
chr1:201076208
|
C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1828-593G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076208 | ||||||
chr1:201076345
|
A | G | 142 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(139): Show | 144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.1827+575T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076345 | ||||||
chr1:201076377
|
T | C | 1 | a0001c0002t0001g0231 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1827+543A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076377 | ||||||
chr1:201076397
|
C | T | 28 | a0001c0050t0001g0233a0001c0079t0001g0269a0002c0012t0001g0194others(25): Show | 30 | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.1827+523G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076397 | ||||||
chr1:201076398
|
G | A | 142 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(139): Show | 144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.1827+522C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076398 | ||||||
chr1:201076482
|
A | G | 1 | a0001c0003t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1827+438T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076482 | ||||||
chr1:201076528
|
G | A | 2 | a0001c0009t0001g0259a0002c0012t0001g0270 | 2 | HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1827+392C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076528 | ||||||
chr1:201076601
|
C | T | 1 | a0001c0001t0001g0132 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1827+319G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076601 | ||||||
chr1:201076613
|
C | T | 4 | a0005c0044t0001g0286a0005c0052t0001g0185a0017c0093t0001g0246others(1): Show | 4 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.1827+307G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076613 | ||||||
chr1:201076897
|
G | T | 11 | a0001c0013t0001g0007a0001c0013t0001g0292a0001c0013t0001g0293others(8): Show | 12 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.1827+23C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076897 | ||||||
chr1:201077149
|
G | A | 2 | a0016c0032t0001g0267a0016c0032t0001g0268 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1620-22C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077149 | ||||||
chr1:201077154
|
G | A | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1620-27C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077154 | ||||||
chr1:201077201
|
G | GGGGGAAA others(33): Show |
1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1620-75_1620-74ins others(40): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077201 | ||||||
chr1:201077251
|
T | G | 210 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(207): Show | 216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.1620-124A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077251 | ||||||
chr1:201077260
|
A | G | 265 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(262): Show | 272 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
intron_variant | MODIFIER | c.1620-133T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077260 | ||||||
chr1:201077416
|
C | T | 9 | a0001c0009t0001g0186a0001c0009t0001g0259a0002c0012t0001g0256others(6): Show | 9 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1620-289G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077416 | ||||||
chr1:201077446
|
A | G | 2 | a0001c0050t0001g0233a0001c0079t0001g0269 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1620-319T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077446 | ||||||
chr1:201077520
|
C | G | 3 | a0001c0004t0001g0108a0026c0053t0001g0066a0036c0040t0001g0008 | 3 | NA18956.hp2 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1619+359G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077520 | ||||||
chr1:201077631
|
C | T | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1619+248G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077631 | ||||||
chr1:201077819
|
C | T | 4 | a0002c0008t0001g0218a0002c0008t0001g0220a0002c0008t0001g0221others(1): Show | 4 | HG02280.hp1 HG02559.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.1619+60G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077819 | ||||||
chr1:201078218
|
C | A | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-114G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078218 | ||||||
chr1:201078294
|
A | T | 4 | a0014c0027t0001g0181a0014c0027t0001g0182a0023c0060t0001g0175others(1): Show | 4 | HG02896.hp1 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394-190T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078294 | ||||||
chr1:201078447
|
G | C | 1 | a0003c0005t0001g0281 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1394-343C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078447 | ||||||
chr1:201078517
|
C | CA | 20 | a0004c0006t0001g0024a0004c0006t0001g0026a0004c0006t0001g0060others(17): Show | 22 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(19): Show |
intron_variant | MODIFIER | c.1394-414dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078517
|
CA | C | 8 | a0001c0017t0001g0223a0002c0047t0001g0187a0002c0048t0001g0234others(5): Show | 8 | HG01109.hp2 HG02109.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1394-414delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078517
|
CAA | C | 39 | a0001c0001t0001g0240a0001c0003t0001g0005a0001c0003t0001g0072others(36): Show | 40 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(37): Show |
intron_variant | MODIFIER | c.1394-415_1394-414d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078517
|
CAAA | C | 168 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(165): Show | 171 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.1394-416_1394-414d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078517
|
CAAAA | C | 45 | a0001c0001t0001g0031a0001c0001t0001g0180a0001c0001t0001g0183others(42): Show | 45 | HG00738.hp1 HG01070.hp2 HG01243.hp1 others(42): Show |
intron_variant | MODIFIER | c.1394-417_1394-414d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078517
|
CAAAAA | C | 14 | a0001c0004t0001g0029a0001c0004t0001g0071a0001c0004t0001g0157others(11): Show | 15 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1394-418_1394-414d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | ||||||
chr1:201078633
|
A | G | 1 | a0003c0015t0001g0091 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1394-529T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078633 | ||||||
chr1:201078646
|
C | T | 55 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(52): Show | 56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
intron_variant | MODIFIER | c.1394-542G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078646 | ||||||
chr1:201078648
|
C | T | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-544G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078648 | ||||||
chr1:201078649
|
T | C | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-545A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078649 | ||||||
chr1:201078721
|
C | T | 2 | a0001c0001t0001g0198a0001c0007t0001g0142 | 2 | NA18612.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.1394-617G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078721 | ||||||
chr1:201078760
|
G | A | 167 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(164): Show | 170 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.1394-656C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078760 | ||||||
chr1:201078813
|
A | C | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-709T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078813 | ||||||
chr1:201078845
|
G | A | 1 | a0001c0009t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1394-741C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078845 | ||||||
chr1:201078888
|
C | T | 10 | a0001c0013t0001g0007a0001c0013t0001g0292a0001c0013t0001g0293others(7): Show | 11 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-784G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078888 | ||||||
chr1:201078893
|
C | T | 1 | a0030c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1394-789G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078893 | ||||||
chr1:201079036
|
G | A | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-932C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079036 | ||||||
chr1:201079119
|
C | CA | 156 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(153): Show | 160 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
intron_variant | MODIFIER | c.1394-1016dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079119 | ||||||
chr1:201079119
|
C | CAA | 16 | a0001c0001t0001g0133a0001c0001t0001g0282a0001c0007t0001g0062others(13): Show | 16 | HG00280.hp2 HG00558.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1394-1017_1394-101 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079119 | ||||||
chr1:201079133
|
C | A | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-1029G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079133 | ||||||
chr1:201079137
|
A | G | 55 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(52): Show | 56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
intron_variant | MODIFIER | c.1394-1033T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079137 | ||||||
chr1:201079157
|
T | G | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-1053A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079157 | ||||||
chr1:201079206
|
T | C | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1102A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079206 | ||||||
chr1:201079207
|
C | T | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1103G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079207 | ||||||
chr1:201079318
|
C | G | 2 | a0001c0007t0001g0162a0001c0016t0001g0152 | 2 | NA18612.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.1394-1214G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079318 | ||||||
chr1:201079447
|
G | C | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1343C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079447 | ||||||
chr1:201079448
|
C | G | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1344G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079448 | ||||||
chr1:201079485
|
T | C | 42 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(39): Show | 43 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.1394-1381A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079485 | ||||||
chr1:201079516
|
C | G | 1 | a0035c0096t0001g0037 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1394-1412G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079516 | ||||||
chr1:201079554
|
T | C | 299 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(296): Show | 306 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
intron_variant | MODIFIER | c.1394-1450A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079554 | ||||||
chr1:201079579
|
CTG | C | 223 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(220): Show | 227 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.1394-1477_1394-147 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079579 | ||||||
chr1:201079670
|
C | T | 1 | a0001c0083t0001g0101 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1394-1566G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079670 | ||||||
chr1:201079726
|
G | T | 1 | a0001c0001t0002g0304 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1394-1622C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079726 | ||||||
chr1:201079780
|
C | G | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1394-1676G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079780 | ||||||
chr1:201079791
|
G | A | 1 | a0003c0005t0001g0094 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1394-1687C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079791 | ||||||
chr1:201079802
|
GGTAGAAC others(25): Show |
G | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1730_1394-169 others(36): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079802 | ||||||
chr1:201079811
|
C | G | 1 | a0001c0001t0001g0069 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1394-1707G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079811 | ||||||
chr1:201080012
|
G | T | 1 | a0001c0073t0001g0046 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1394-1908C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080012 | ||||||
chr1:201080158
|
G | A | 7 | a0002c0045t0001g0219a0002c0047t0001g0187a0002c0048t0001g0234others(4): Show | 7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1394-2054C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080158 | ||||||
chr1:201080192
|
T | C | 282 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(279): Show | 289 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
intron_variant | MODIFIER | c.1394-2088A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080192 | ||||||
chr1:201080193
|
G | A | 6 | a0001c0001t0001g0247a0001c0003t0001g0125a0001c0017t0001g0047others(3): Show | 6 | HG01978.hp1 HG02071.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1394-2089C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080193 | ||||||
chr1:201080308
|
A | T | 36 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(33): Show | 37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1394-2204T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080308 | ||||||
chr1:201080730
|
C | A | 1 | a0001c0002t0001g0178 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1393+2432G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080730 | ||||||
chr1:201080731
|
A | AG | 59 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(56): Show | 62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+2430dupC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080731 | ||||||
chr1:201080739
|
T | G | 138 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(135): Show | 140 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1393+2423A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080739 | ||||||
chr1:201080741
|
T | G | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+2421A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080741 | ||||||
chr1:201080779
|
C | G | 36 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(33): Show | 37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+2383G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080779 | ||||||
chr1:201080918
|
C | T | 223 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(220): Show | 227 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.1393+2244G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080918 | ||||||
chr1:201081105
|
A | C | 282 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(279): Show | 289 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
intron_variant | MODIFIER | c.1393+2057T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081105 | ||||||
chr1:201081156
|
C | T | 59 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(56): Show | 62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+2006G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081156 | ||||||
chr1:201081164
|
T | C | 59 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(56): Show | 62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+1998A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081164 | ||||||
chr1:201081165
|
C | T | 2 | a0001c0050t0001g0233a0001c0079t0001g0269 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1393+1997G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081165 | ||||||
chr1:201081169
|
G | A | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1993C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081169 | ||||||
chr1:201081217
|
A | G | 1 | a0001c0073t0001g0046 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1393+1945T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081217 | ||||||
chr1:201081236
|
C | T | 59 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(56): Show | 62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+1926G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081236 | ||||||
chr1:201081344
|
T | C | 1 | a0002c0058t0001g0103 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1393+1818A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081344 | ||||||
chr1:201081403
|
C | T | 9 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(6): Show | 10 | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(7): Show |
intron_variant | MODIFIER | c.1393+1759G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081403 | ||||||
chr1:201081432
|
C | G | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1393+1730G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081432 | ||||||
chr1:201081440
|
A | G | 36 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(33): Show | 37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1722T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081440 | ||||||
chr1:201081472
|
G | A | 4 | a0009c0018t0001g0189a0010c0019t0001g0164a0010c0019t0001g0188others(1): Show | 4 | HG02055.hp1 HG02809.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393+1690C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081472 | ||||||
chr1:201081495
|
G | A | 2 | a0005c0078t0001g0226a0008c0077t0001g0010 | 2 | HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1393+1667C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081495 | ||||||
chr1:201081639
|
C | T | 1 | a0001c0001t0001g0021 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1393+1523G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081639 | ||||||
chr1:201081640
|
G | A | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1393+1522C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081640 | ||||||
chr1:201081680
|
T | C | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1393+1482A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081680 | ||||||
chr1:201081709
|
T | TG | 37 | a0001c0001t0001g0114a0001c0003t0001g0005a0001c0003t0001g0072others(34): Show | 38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.1393+1452dupC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081709 | ||||||
chr1:201081710
|
G | C | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1393+1452C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081710 | ||||||
chr1:201081715
|
G | T | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1447C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081715 | ||||||
chr1:201081716
|
T | C | 2 | a0001c0007t0002g0303a0001c0016t0002g0302 | 2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.1393+1446A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081716 | ||||||
chr1:201081904
|
C | T | 61 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(58): Show | 64 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.1393+1258G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081904 | ||||||
chr1:201081969
|
C | G | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1193G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081969 | ||||||
chr1:201082029
|
A | AT | 145 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(142): Show | 147 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.1393+1132dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | ||||||
chr1:201082029
|
A | ATT | 35 | a0001c0001t0001g0088a0001c0001t0001g0114a0001c0001t0001g0133others(32): Show | 37 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1131_1393+113 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | ||||||
chr1:201082029
|
A | ATTTTTT | 27 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(24): Show | 28 | HG00558.hp2 HG01071.hp1 HG01167.hp2 others(25): Show |
intron_variant | MODIFIER | c.1393+1127_1393+113 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | ||||||
chr1:201082029
|
A | ATTTTTTT | 6 | a0001c0003t0001g0159a0001c0003t0001g0210a0001c0003t0002g0307others(3): Show | 6 | HG00544.hp2 HG01978.hp2 HG02056.hp1 others(3): Show |
intron_variant | MODIFIER | c.1393+1126_1393+113 others(11): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | ||||||
chr1:201082060
|
C | T | 1 | a0005c0046t0001g0255 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1393+1102G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082060 | ||||||
chr1:201082119
|
T | C | 36 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(33): Show | 37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1043A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082119 | ||||||
chr1:201082169
|
C | T | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+993G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082169 | ||||||
chr1:201082260
|
C | T | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+902G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082260 | ||||||
chr1:201082290
|
C | G | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+872G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082290 | ||||||
chr1:201082292
|
G | A | 30 | a0001c0003t0001g0125a0001c0003t0001g0143a0001c0003t0001g0144others(27): Show | 30 | HG00544.hp2 HG00597.hp1 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.1393+870C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082292 | ||||||
chr1:201082318
|
C | T | 1 | a0018c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1393+844G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082318 | ||||||
chr1:201082333
|
A | AT | 149 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(146): Show | 151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.1393+828dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082333 | ||||||
chr1:201082420
|
G | T | 3 | a0003c0005t0001g0110a0003c0005t0001g0130a0003c0005t0001g0161 | 3 | HG00735.hp1 HG01433.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1393+742C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082420 | ||||||
chr1:201082454
|
A | T | 288 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(285): Show | 295 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
intron_variant | MODIFIER | c.1393+708T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082454 | ||||||
chr1:201082470
|
T | C | 1 | a0003c0015t0001g0118 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1393+692A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082470 | ||||||
chr1:201082516
|
C | G | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1393+646G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082516 | ||||||
chr1:201082722
|
C | A | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+440G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082722 | ||||||
chr1:201082774
|
C | T | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+388G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082774 | ||||||
chr1:201082777
|
T | C | 6 | a0001c0009t0001g0262a0002c0012t0001g0245a0002c0023t0001g0227others(3): Show | 6 | HG01243.hp1 HG02818.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.1393+385A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082777 | ||||||
chr1:201082929
|
C | T | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1393+233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082929 | ||||||
chr1:201082936
|
G | A | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1393+226C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082936 | ||||||
chr1:201082985
|
C | T | 2 | a0001c0050t0001g0233a0001c0079t0001g0269 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1393+177G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082985 | ||||||
chr1:201083071
|
T | C | 53 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(50): Show | 54 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(51): Show |
intron_variant | MODIFIER | c.1393+91A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201083071 | ||||||
chr1:201083155
|
G | A | 26 | a0001c0003t0001g0125a0001c0003t0001g0143a0001c0003t0001g0144others(23): Show | 26 | HG00544.hp2 HG00597.hp1 HG01069.hp1 others(23): Show |
splice_region_variant&intron_variant | LOW | c.1393+7C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201083155 | ||||||
chr1:201083346
|
T | C | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-24A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083346 | ||||||
chr1:201083434
|
G | T | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-112C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083434 | ||||||
chr1:201083466
|
C | T | 1 | a0001c0002t0001g0214 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1233-144G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083466 | ||||||
chr1:201083512
|
G | A | 261 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(258): Show | 266 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(263): Show |
intron_variant | MODIFIER | c.1233-190C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083512 | ||||||
chr1:201083555
|
C | T | 6 | a0001c0001t0001g0133a0001c0001t0001g0279a0001c0001t0001g0280others(3): Show | 6 | HG02074.hp2 HG02165.hp1 HG03927.hp2 others(3): Show |
intron_variant | MODIFIER | c.1233-233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083555 | ||||||
chr1:201083593
|
C | T | 2 | a0001c0017t0001g0107a0019c0042t0001g0009 | 2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1233-271G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083593 | ||||||
chr1:201083615
|
G | A | 23 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(20): Show | 25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-293C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083615 | ||||||
chr1:201083755
|
A | C | 7 | a0002c0045t0001g0219a0002c0047t0001g0187a0002c0048t0001g0234others(4): Show | 7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1233-433T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083755 | ||||||
chr1:201083776
|
T | C | 42 | a0001c0003t0001g0005a0001c0003t0001g0072a0001c0003t0001g0125others(39): Show | 43 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.1233-454A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083776 | ||||||
chr1:201083879
|
G | A | 3 | a0001c0017t0001g0047a0001c0017t0001g0052a0001c0070t0001g0120 | 3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1233-557C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083879 | ||||||
chr1:201083913
|
C | G | 7 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(4): Show | 8 | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(5): Show |
intron_variant | MODIFIER | c.1233-591G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083913 | ||||||
chr1:201083991
|
C | G | 1 | a0001c0003t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1233-669G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083991 | ||||||
chr1:201083995
|
A | C | 1 | a0004c0043t0001g0288 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1233-673T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083995 | ||||||
chr1:201084203
|
C | T | 2 | a0003c0057t0001g0291a0006c0055t0001g0290 | 2 | HG00323.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1232+747G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084203 | ||||||
chr1:201084218
|
C | T | 1 | a0006c0066t0001g0196 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1232+732G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084218 | ||||||
chr1:201084304
|
G | A | 1 | a0001c0004t0001g0025 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1232+646C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084304 | ||||||
chr1:201084410
|
T | G | 2 | a0001c0001t0001g0080a0001c0001t0001g0090 | 2 | HG00099.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.1232+540A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084410 | ||||||
chr1:201084569
|
G | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1232+381C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084569 | ||||||
chr1:201085069
|
G | T | 35 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(32): Show | 35 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.1151-38C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085069 | ||||||
chr1:201085192
|
T | C | 1 | a0005c0022t0003g0258 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1151-161A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085192 | ||||||
chr1:201085226
|
G | T | 2 | a0002c0058t0001g0103a0023c0060t0001g0175 | 2 | HG02257.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1151-195C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085226 | ||||||
chr1:201085342
|
T | C | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1150+94A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085342 | ||||||
chr1:201085610
|
G | A | 10 | a0001c0002t0001g0148a0001c0002t0001g0214a0001c0038t0001g0096others(7): Show | 10 | HG00621.hp2 HG02015.hp1 HG02165.hp2 others(7): Show |
intron_variant | MODIFIER | c.1005-29C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201085610 | ||||||
chr1:201085837
|
C | T | 1 | a0003c0015t0001g0078 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1005-256G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201085837 | ||||||
chr1:201086063
|
AG | A | 6 | a0001c0001t0001g0163a0001c0001t0001g0239a0001c0063t0001g0193others(3): Show | 6 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(3): Show |
intron_variant | MODIFIER | c.1005-483delC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086063 | ||||||
chr1:201086279
|
G | T | 2 | a0001c0002t0001g0115a0001c0002t0001g0277 | 2 | HG03688.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1005-698C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086279 | ||||||
chr1:201086457
|
C | T | 6 | a0001c0017t0001g0107a0001c0073t0001g0046a0002c0008t0001g0218others(3): Show | 6 | HG02257.hp2 HG02280.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1005-876G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086457 | ||||||
chr1:201086549
|
T | C | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1005-968A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086549 | ||||||
chr1:201086556
|
G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1005-975C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086556 | ||||||
chr1:201086801
|
T | C | 19 | a0001c0001t0001g0017a0001c0001t0001g0248a0001c0013t0001g0007others(16): Show | 20 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(17): Show |
intron_variant | MODIFIER | c.1004+1025A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086801 | ||||||
chr1:201087020
|
G | A | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1004+806C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087020 | ||||||
chr1:201087110
|
C | G | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1004+716G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087110 | ||||||
chr1:201087126
|
A | C | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1004+700T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087126 | ||||||
chr1:201087433
|
C | A | 3 | a0001c0017t0001g0223a0002c0072t0001g0266a0006c0071t0001g0039 | 3 | HG01109.hp2 HG02559.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1004+393G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087433 | ||||||
chr1:201087531
|
G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1004+295C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087531 | ||||||
chr1:201087621
|
T | C | 2 | a0001c0001t0001g0017a0004c0043t0001g0288 | 2 | HG01346.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1004+205A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087621 | ||||||
chr1:201087734
|
C | T | 9 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0032others(6): Show | 9 | HG01243.hp2 HG01255.hp2 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.1004+92G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087734 | ||||||
chr1:201087993
|
C | T | 5 | a0001c0004t0001g0040a0001c0017t0001g0223a0002c0072t0001g0266others(2): Show | 5 | HG01109.hp2 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.901-64G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201087993 | ||||||
chr1:201088019
|
G | A | 7 | a0001c0009t0001g0186a0002c0047t0001g0187a0009c0018t0001g0189others(4): Show | 7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.901-90C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088019 | ||||||
chr1:201088078
|
G | C | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.901-149C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088078 | ||||||
chr1:201088167
|
G | T | 1 | a0001c0007t0001g0284 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.901-238C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088167 | ||||||
chr1:201088278
|
C | G | 5 | a0001c0003t0001g0145a0001c0003t0001g0159a0001c0003t0001g0160others(2): Show | 5 | NA18947.hp2 NA18950.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.901-349G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088278 | ||||||
chr1:201088301
|
C | T | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.901-372G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088301 | ||||||
chr1:201088682
|
C | T | 1 | a0001c0002t0001g0272 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.900+576G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088682 | ||||||
chr1:201088930
|
G | A | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.900+328C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088930 | ||||||
chr1:201088970
|
G | T | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.900+288C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088970 | ||||||
chr1:201089244
|
G | A | 2 | a0001c0009t0001g0006a0001c0009t0001g0265 | 3 | HG02451.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.900+14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201089244 | ||||||
chr1:201089564
|
T | C | 154 | a0001c0001t0001g0240a0001c0001t0001g0248a0001c0002t0001g0002others(151): Show | 160 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.695-101A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089564 | ||||||
chr1:201089795
|
C | A | 7 | a0001c0003t0001g0145a0001c0003t0001g0153a0001c0003t0001g0159others(4): Show | 7 | NA18947.hp2 NA18950.hp1 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.695-332G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089795 | ||||||
chr1:201089956
|
A | G | 200 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(197): Show | 206 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
intron_variant | MODIFIER | c.695-493T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089956 | ||||||
chr1:201090141
|
T | C | 1 | a0001c0003t0001g0005 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.695-678A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090141 | ||||||
chr1:201090353
|
A | T | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.695-890T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090353 | ||||||
chr1:201090367
|
G | C | 108 | a0001c0001t0001g0240a0001c0002t0001g0002a0001c0002t0001g0028others(105): Show | 113 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.695-904C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090367 | ||||||
chr1:201090392
|
G | A | 4 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(1): Show | 5 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.695-929C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090392 | ||||||
chr1:201090501
|
G | A | 1 | a0001c0001t0001g0241 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.695-1038C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090501 | ||||||
chr1:201090659
|
A | G | 51 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(48): Show | 51 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.694+981T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090659 | ||||||
chr1:201090662
|
G | A | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.694+978C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090662 | ||||||
chr1:201090688
|
A | G | 4 | a0001c0014t0001g0252a0001c0017t0001g0047a0001c0017t0001g0052others(1): Show | 4 | HG01884.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.694+952T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090688 | ||||||
chr1:201090702
|
G | A | 9 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(6): Show | 9 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(6): Show |
intron_variant | MODIFIER | c.694+938C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090702 | ||||||
chr1:201090923
|
A | G | 39 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(36): Show | 39 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.694+717T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090923 | ||||||
chr1:201090965
|
A | G | 2 | a0004c0006t0001g0089a0004c0006t0001g0205 | 2 | HG00140.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.694+675T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090965 | ||||||
chr1:201091089
|
A | G | 5 | a0001c0009t0001g0053a0006c0071t0001g0039a0014c0027t0001g0181others(2): Show | 5 | HG02559.hp1 HG02647.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.694+551T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091089 | ||||||
chr1:201091191
|
A | G | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.694+449T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091191 | ||||||
chr1:201091223
|
T | C | 3 | a0001c0001t0001g0057a0001c0001t0001g0109a0026c0053t0001g0066 | 3 | NA18956.hp2 NA19081.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.694+417A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091223 | ||||||
chr1:201091366
|
G | A | 1 | a0001c0002t0001g0050 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.694+274C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091366 | ||||||
chr1:201091396
|
G | GT | 3 | a0001c0004t0001g0108a0001c0009t0001g0262a0036c0040t0001g0008 | 3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+243_694+244ins others(1): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091396 | ||||||
chr1:201091397
|
C | G | 3 | a0001c0004t0001g0108a0001c0009t0001g0262a0036c0040t0001g0008 | 3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+243G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091397 | ||||||
chr1:201091397
|
C | T | 303 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(300): Show | 310 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
intron_variant | MODIFIER | c.694+243G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091397 | ||||||
chr1:201091398
|
A | AGG | 42 | a0001c0004t0001g0018a0001c0004t0001g0029a0001c0004t0001g0059others(39): Show | 42 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.694+240_694+241dup others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091398 | ||||||
chr1:201091398
|
A | G | 3 | a0001c0004t0001g0108a0001c0009t0001g0262a0036c0040t0001g0008 | 3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+242T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091398 | ||||||
chr1:201091538
|
C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.694+102G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091538 | ||||||
chr1:201092242
|
C | T | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.399-128G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092242 | ||||||
chr1:201092259
|
A | T | 10 | a0001c0002t0001g0028a0003c0005t0001g0073a0003c0005t0001g0094others(7): Show | 10 | HG00280.hp2 HG00735.hp1 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.399-145T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092259 | ||||||
chr1:201092262
|
T | G | 1 | a0030c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.399-148A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092262 | ||||||
chr1:201092327
|
T | C | 2 | a0001c0001t0001g0017a0003c0015t0001g0078 | 2 | HG00621.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.399-213A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092327 | ||||||
chr1:201092362
|
T | G | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.399-248A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092362 | ||||||
chr1:201092376
|
G | A | 2 | a0001c0001t0001g0168a0001c0001t0001g0271 | 2 | HG00438.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.399-262C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092376 | ||||||
chr1:201092385
|
G | C | 2 | a0003c0005t0001g0149a0003c0005t0001g0191 | 2 | HG02735.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.399-271C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092385 | ||||||
chr1:201092466
|
T | C | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.399-352A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092466 | ||||||
chr1:201092542
|
C | T | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.399-428G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092542 | ||||||
chr1:201092551
|
T | G | 3 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265 | 4 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.399-437A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092551 | ||||||
chr1:201092649
|
G | A | 63 | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0057others(60): Show | 65 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(62): Show |
intron_variant | MODIFIER | c.399-535C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092649 | ||||||
chr1:201092669
|
A | G | 2 | a0001c0017t0001g0223a0002c0072t0001g0266 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.399-555T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092669 | ||||||
chr1:201092673
|
C | A | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.399-559G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092673 | ||||||
chr1:201092690
|
C | G | 161 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(158): Show | 165 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.399-576G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092690 | ||||||
chr1:201092858
|
G | A | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.399-744C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092858 | ||||||
chr1:201092863
|
T | C | 6 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(3): Show | 6 | HG02258.hp2 HG02809.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.399-749A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092863 | ||||||
chr1:201093036
|
G | A | 234 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(231): Show | 241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.398+846C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093036 | ||||||
chr1:201093109
|
T | C | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.398+773A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093109 | ||||||
chr1:201093137
|
C | A | 40 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(37): Show | 40 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(37): Show |
intron_variant | MODIFIER | c.398+745G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093137 | ||||||
chr1:201093202
|
G | A | 4 | a0004c0006t0001g0060a0007c0036t0001g0287a0011c0034t0001g0001others(1): Show | 5 | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.398+680C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093202 | ||||||
chr1:201093203
|
G | C | 7 | a0001c0009t0001g0186a0002c0047t0001g0187a0009c0018t0001g0189others(4): Show | 7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.398+679C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093203 | ||||||
chr1:201093272
|
C | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.398+610G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093272 | ||||||
chr1:201093458
|
C | A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+424G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093458 | ||||||
chr1:201093470
|
G | A | 1 | a0001c0002t0001g0002 | 2 | HG01496.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.398+412C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093470 | ||||||
chr1:201093679
|
G | A | 5 | a0001c0002t0001g0141a0001c0003t0001g0144a0001c0003t0001g0210others(2): Show | 5 | HG00597.hp1 NA18960.hp2 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.398+203C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093679 | ||||||
chr1:201093733
|
T | C | 8 | a0001c0004t0001g0040a0001c0009t0001g0006a0001c0009t0001g0264others(5): Show | 9 | HG02451.hp1 HG02615.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.398+149A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093733 | ||||||
chr1:201093734
|
G | A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+148C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093734 | ||||||
chr1:201093739
|
G | A | 1 | a0001c0003t0001g0289 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.398+143C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093739 | ||||||
chr1:201093842
|
C | T | 1 | a0003c0005t0002g0305 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.398+40G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093842 | ||||||
chr1:201093844
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+38T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093844 | ||||||
chr1:201094064
|
G | A | 1 | a0001c0014t0001g0252 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.259-43C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094064 | ||||||
chr1:201094120
|
G | T | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-99C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094120 | ||||||
chr1:201094443
|
AT | A | 6 | a0001c0009t0001g0262a0002c0023t0001g0227a0002c0023t0002g0300others(3): Show | 6 | HG01243.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.259-423delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094443 | ||||||
chr1:201094460
|
C | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-439G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094460 | ||||||
chr1:201094510
|
C | A | 8 | a0001c0009t0001g0186a0002c0045t0001g0219a0002c0047t0001g0187others(5): Show | 8 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.259-489G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094510 | ||||||
chr1:201094590
|
G | T | 1 | a0003c0005t0001g0073 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.259-569C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094590 | ||||||
chr1:201094614
|
T | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.259-593A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094614 | ||||||
chr1:201094626
|
C | T | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094626 | ||||||
chr1:201094722
|
C | A | 16 | a0001c0009t0001g0259a0001c0033t0001g0082a0001c0033t0001g0251others(13): Show | 16 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.259-701G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094722 | ||||||
chr1:201094774
|
A | G | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.259-753T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094774 | ||||||
chr1:201094841
|
A | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-820T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094841 | ||||||
chr1:201094897
|
C | A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-876G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094897 | ||||||
chr1:201094979
|
C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.259-958G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094979 | ||||||
chr1:201095060
|
C | T | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1039G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095060 | ||||||
chr1:201095121
|
G | GGT | 7 | a0001c0002t0001g0104a0001c0004t0001g0123a0001c0014t0001g0252others(4): Show | 7 | HG01884.hp1 HG02080.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-1102_259-1101d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | ||||||
chr1:201095121
|
G | GGTGT | 12 | a0001c0001t0001g0150a0001c0001t0001g0155a0001c0001t0001g0156others(9): Show | 12 | HG00735.hp2 HG01106.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.259-1104_259-1101d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | ||||||
chr1:201095121
|
G | GGTGTGT | 96 | a0001c0001t0001g0240a0001c0002t0001g0002a0001c0002t0001g0028others(93): Show | 100 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(97): Show |
intron_variant | MODIFIER | c.259-1106_259-1101d others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | ||||||
chr1:201095121
|
G | GGTGTGTG others(1): Show |
51 | a0001c0001t0001g0163a0001c0001t0001g0239a0001c0004t0001g0018others(48): Show | 51 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.259-1108_259-1101d others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | ||||||
chr1:201095121
|
G | GGTGTGTG others(3): Show |
1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.259-1110_259-1101d others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | ||||||
chr1:201095157
|
CAT | C | 4 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(1): Show | 5 | HG02148.hp2 HG02451.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-1138_259-1137d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095157 | ||||||
chr1:201095158
|
ATATATAT others(27): Show |
A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1171_259-1138d others(36): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095158 | ||||||
chr1:201095211
|
T | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1190A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095211 | ||||||
chr1:201095296
|
C | T | 1 | a0001c0014t0001g0252 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.259-1275G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095296 | ||||||
chr1:201095324
|
T | C | 5 | a0001c0003t0001g0166a0001c0003t0001g0211a0001c0003t0001g0212others(2): Show | 5 | NA18960.hp1 NA19062.hp2 NA19074.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-1303A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095324 | ||||||
chr1:201095347
|
A | G | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.259-1326T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095347 | ||||||
chr1:201095357
|
G | A | 4 | a0001c0001t0001g0031a0001c0001t0001g0128a0001c0001t0001g0202others(1): Show | 4 | HG01928.hp2 HG02293.hp1 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-1336C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095357 | ||||||
chr1:201095413
|
G | A | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-1392C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095413 | ||||||
chr1:201095434
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1413T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095434 | ||||||
chr1:201095503
|
T | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1482A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095503 | ||||||
chr1:201095640
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1619T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095640 | ||||||
chr1:201095697
|
G | A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1676C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095697 | ||||||
chr1:201095787
|
T | C | 233 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(230): Show | 240 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
intron_variant | MODIFIER | c.259-1766A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095787 | ||||||
chr1:201095831
|
C | T | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.259-1810G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095831 | ||||||
chr1:201096009
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1988T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096009 | ||||||
chr1:201096105
|
C | T | 2 | a0001c0031t0001g0048a0001c0031t0001g0209 | 2 | HG02074.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.259-2084G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096105 | ||||||
chr1:201096136
|
C | T | 3 | a0002c0008t0001g0218a0002c0008t0001g0220a0002c0008t0001g0221 | 3 | HG02280.hp1 HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.259-2115G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096136 | ||||||
chr1:201096137
|
G | A | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096137 | ||||||
chr1:201096258
|
A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0241a0003c0015t0001g0061 | 4 | HG01109.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-2237T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096258 | ||||||
chr1:201096318
|
C | T | 228 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(225): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
intron_variant | MODIFIER | c.259-2297G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096318 | ||||||
chr1:201096319
|
C | T | 1 | a0001c0009t0001g0186 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.259-2298G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096319 | ||||||
chr1:201096325
|
G | A | 3 | a0001c0007t0001g0162a0001c0007t0001g0216a0001c0016t0001g0152 | 3 | HG02056.hp2 NA18612.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.259-2304C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096325 | ||||||
chr1:201096344
|
T | C | 1 | a0001c0050t0001g0233 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.259-2323A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096344 | ||||||
chr1:201096410
|
C | T | 3 | a0002c0008t0001g0041a0002c0008t0001g0042a0005c0054t0001g0177 | 3 | HG01891.hp2 HG03139.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.259-2389G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096410 | ||||||
chr1:201096617
|
T | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2596A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096617 | ||||||
chr1:201096652
|
C | T | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2631G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096652 | ||||||
chr1:201096864
|
T | C | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2843A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096864 | ||||||
chr1:201096874
|
G | C | 44 | a0001c0004t0001g0018a0001c0004t0001g0025a0001c0004t0001g0029others(41): Show | 44 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.259-2853C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096874 | ||||||
chr1:201096997
|
A | G | 7 | a0001c0009t0001g0186a0002c0047t0001g0187a0009c0018t0001g0189others(4): Show | 7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-2976T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096997 | ||||||
chr1:201097005
|
C | T | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.259-2984G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097005 | ||||||
chr1:201097134
|
C | T | 7 | a0001c0009t0001g0186a0002c0047t0001g0187a0009c0018t0001g0189others(4): Show | 7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3113G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097134 | ||||||
chr1:201097156
|
A | G | 231 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(228): Show | 238 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
intron_variant | MODIFIER | c.259-3135T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097156 | ||||||
chr1:201097184
|
C | T | 1 | a0001c0002t0001g0028 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.259-3163G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097184 | ||||||
chr1:201097252
|
T | A | 2 | a0001c0007t0001g0284a0001c0029t0001g0049 | 2 | NA18945.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.259-3231A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097252 | ||||||
chr1:201097254
|
C | G | 2 | a0001c0004t0001g0040a0005c0046t0001g0255 | 2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.259-3233G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097254 | ||||||
chr1:201097264
|
A | C | 1 | a0002c0064t0001g0238 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.259-3243T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097264 | ||||||
chr1:201097393
|
A | G | 1 | a0017c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-3372T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097393 | ||||||
chr1:201097417
|
C | T | 2 | a0014c0027t0001g0181a0014c0027t0001g0182 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.259-3396G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097417 | ||||||
chr1:201097445
|
AC | A | 7 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(4): Show | 7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3425delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097445 | ||||||
chr1:201097554
|
G | T | 3 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265 | 4 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-3533C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097554 | ||||||
chr1:201097610
|
G | T | 1 | a0001c0001t0001g0092 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.259-3589C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097610 | ||||||
chr1:201097611
|
C | A | 1 | a0031c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.259-3590G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097611 | ||||||
chr1:201097619
|
T | C | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.259-3598A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097619 | ||||||
chr1:201097752
|
G | A | 52 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(49): Show | 52 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.259-3731C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097752 | ||||||
chr1:201097802
|
G | C | 7 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(4): Show | 7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3781C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097802 | ||||||
chr1:201097855
|
T | C | 65 | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0057others(62): Show | 67 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.259-3834A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097855 | ||||||
chr1:201097883
|
G | A | 47 | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0057others(44): Show | 49 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.259-3862C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097883 | ||||||
chr1:201097975
|
A | G | 3 | a0001c0009t0001g0053a0014c0027t0001g0181a0014c0027t0001g0182 | 3 | HG02896.hp1 HG02897.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.259-3954T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097975 | ||||||
chr1:201098082
|
G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.259-4061C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098082 | ||||||
chr1:201098206
|
G | C | 25 | a0001c0001t0001g0031a0001c0001t0001g0057a0001c0001t0001g0109others(22): Show | 25 | HG00558.hp1 HG00597.hp2 HG01928.hp2 others(22): Show |
intron_variant | MODIFIER | c.259-4185C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098206 | ||||||
chr1:201098285
|
A | C | 227 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(224): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
intron_variant | MODIFIER | c.259-4264T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098285 | ||||||
chr1:201098464
|
C | G | 2 | a0001c0007t0002g0303a0001c0016t0002g0302 | 2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.259-4443G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098464 | ||||||
chr1:201098519
|
C | T | 2 | a0002c0048t0001g0234a0006c0071t0001g0039 | 2 | HG02109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.259-4498G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098519 | ||||||
chr1:201098656
|
C | T | 47 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(44): Show | 47 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(44): Show |
intron_variant | MODIFIER | c.259-4635G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098656 | ||||||
chr1:201098771
|
G | A | 111 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(108): Show | 115 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.259-4750C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098771 | ||||||
chr1:201098797
|
C | T | 77 | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0057others(74): Show | 80 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(77): Show |
intron_variant | MODIFIER | c.259-4776G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098797 | ||||||
chr1:201098823
|
C | G | 225 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(222): Show | 232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.259-4802G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098823 | ||||||
chr1:201098827
|
C | G | 61 | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0057others(58): Show | 64 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.259-4806G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098827 | ||||||
chr1:201098898
|
T | C | 10 | a0001c0002t0001g0104a0001c0002t0001g0148a0001c0038t0001g0096others(7): Show | 10 | HG00621.hp2 HG02080.hp1 HG02165.hp2 others(7): Show |
intron_variant | MODIFIER | c.259-4877A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098898 | ||||||
chr1:201098979
|
G | T | 5 | a0001c0002t0001g0050a0001c0002t0001g0119a0001c0002t0001g0147others(2): Show | 5 | NA18946.hp2 NA19078.hp2 NA19081.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-4958C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098979 | ||||||
chr1:201099035
|
C | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0241a0003c0015t0001g0061 | 4 | HG01109.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-5014G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099035 | ||||||
chr1:201099057
|
C | T | 7 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(4): Show | 7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-5036G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099057 | ||||||
chr1:201099170
|
T | C | 216 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(213): Show | 222 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(219): Show |
intron_variant | MODIFIER | c.259-5149A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099170 | ||||||
chr1:201099538
|
T | C | 1 | a0001c0001t0001g0276 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.259-5517A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099538 | ||||||
chr1:201099551
|
G | A | 1 | a0002c0012t0001g0194 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.259-5530C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099551 | ||||||
chr1:201099568
|
G | A | 8 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(5): Show | 8 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(5): Show |
intron_variant | MODIFIER | c.259-5547C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099568 | ||||||
chr1:201099626
|
C | T | 2 | a0001c0033t0001g0082a0001c0033t0001g0251 | 2 | NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.259-5605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099626 | ||||||
chr1:201099659
|
A | G | 148 | a0001c0001t0001g0003a0001c0001t0001g0057a0001c0001t0001g0092others(145): Show | 154 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
intron_variant | MODIFIER | c.259-5638T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099659 | ||||||
chr1:201099786
|
T | C | 1 | a0001c0001t0001g0168 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.259-5765A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099786 | ||||||
chr1:201099814
|
C | A | 7 | a0001c0009t0001g0186a0002c0047t0001g0187a0009c0018t0001g0189others(4): Show | 7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-5793G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099814 | ||||||
chr1:201099928
|
G | A | 1 | a0019c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.259-5907C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099928 | ||||||
chr1:201100037
|
A | G | 1 | a0002c0072t0001g0266 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.259-6016T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100037 | ||||||
chr1:201100063
|
C | A | 103 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(100): Show | 104 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.259-6042G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100063 | ||||||
chr1:201100127
|
A | G | 1 | a0001c0004t0001g0040 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.259-6106T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100127 | ||||||
chr1:201100157
|
G | T | 1 | a0001c0083t0001g0101 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.259-6136C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100157 | ||||||
chr1:201100207
|
C | T | 10 | a0001c0001t0001g0035a0001c0001t0001g0127a0001c0009t0001g0186others(7): Show | 10 | HG00609.hp2 HG02055.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.259-6186G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100207 | ||||||
chr1:201100478
|
C | T | 1 | a0002c0008t0001g0220 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.259-6457G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100478 | ||||||
chr1:201100510
|
G | C | 4 | a0001c0009t0001g0053a0002c0045t0001g0219a0014c0027t0001g0181others(1): Show | 4 | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-6489C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100510 | ||||||
chr1:201100515
|
T | A | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.259-6494A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100515 | ||||||
chr1:201100544
|
G | A | 5 | a0001c0009t0001g0053a0002c0045t0001g0219a0014c0027t0001g0181others(2): Show | 5 | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.259-6523C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100544 | ||||||
chr1:201100633
|
C | A | 20 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(17): Show | 20 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.259-6612G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100633 | ||||||
chr1:201100772
|
C | T | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.259-6751G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100772 | ||||||
chr1:201100858
|
C | CT | 7 | a0001c0001t0001g0282a0002c0048t0001g0234a0005c0046t0001g0255others(4): Show | 7 | HG02055.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.259-6838dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100858 | ||||||
chr1:201100858
|
CT | C | 28 | a0001c0001t0001g0003a0001c0001t0001g0057a0001c0001t0001g0109others(25): Show | 29 | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.259-6838delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100858 | ||||||
chr1:201100873
|
C | T | 1 | a0018c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.259-6852G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100873 | ||||||
chr1:201100954
|
T | C | 12 | a0004c0006t0001g0022a0004c0006t0001g0024a0004c0006t0001g0026others(9): Show | 13 | HG01069.hp2 HG01123.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.259-6933A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100954 | ||||||
chr1:201100988
|
C | T | 1 | a0001c0031t0001g0048 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.259-6967G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100988 | ||||||
chr1:201101031
|
A | C | 13 | a0001c0009t0001g0259a0001c0033t0001g0082a0001c0033t0001g0251others(10): Show | 13 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.259-7010T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101031 | ||||||
chr1:201101046
|
C | CT | 100 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(97): Show | 101 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.259-7026dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101046 | ||||||
chr1:201101050
|
A | T | 109 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(106): Show | 110 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(107): Show |
intron_variant | MODIFIER | c.259-7029T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101050 | ||||||
chr1:201101062
|
T | G | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-7041A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101062 | ||||||
chr1:201101205
|
A | G | 7 | a0001c0009t0001g0053a0002c0045t0001g0219a0008c0039t0001g0045others(4): Show | 7 | HG02886.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-7184T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101205 | ||||||
chr1:201101272
|
G | C | 30 | a0001c0001t0001g0030a0001c0001t0001g0140a0001c0002t0001g0141others(27): Show | 31 | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(28): Show |
intron_variant | MODIFIER | c.259-7251C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101272 | ||||||
chr1:201101281
|
T | C | 1 | a0030c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.259-7260A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101281 | ||||||
chr1:201101294
|
C | T | 10 | a0001c0004t0001g0040a0001c0011t0001g0014a0001c0011t0001g0015others(7): Show | 10 | HG01070.hp2 HG01346.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.259-7273G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101294 | ||||||
chr1:201101338
|
C | T | 1 | a0002c0072t0001g0266 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.259-7317G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101338 | ||||||
chr1:201101472
|
G | A | 1 | a0020c0076t0001g0087 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.259-7451C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101472 | ||||||
chr1:201101492
|
G | A | 4 | a0001c0009t0001g0262a0002c0023t0001g0227a0002c0023t0002g0300others(1): Show | 4 | HG01243.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-7471C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101492 | ||||||
chr1:201101505
|
G | A | 2 | a0006c0071t0001g0039a0017c0093t0001g0246 | 2 | HG02559.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.259-7484C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101505 | ||||||
chr1:201101549
|
G | A | 1 | a0001c0003t0001g0145 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.259-7528C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101549 | ||||||
chr1:201101612
|
G | A | 26 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0239others(23): Show | 26 | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(23): Show |
intron_variant | MODIFIER | c.259-7591C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101612 | ||||||
chr1:201101638
|
A | G | 1 | a0001c0001t0001g0155 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.259-7617T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101638 | ||||||
chr1:201101644
|
T | C | 1 | a0002c0010t0001g0099 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.259-7623A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101644 | ||||||
chr1:201101767
|
T | C | 1 | a0001c0004t0001g0068 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.259-7746A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101767 | ||||||
chr1:201101788
|
C | A | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.259-7767G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101788 | ||||||
chr1:201101888
|
C | CA | 7 | a0001c0025t0001g0236a0002c0012t0001g0270a0005c0022t0003g0258others(4): Show | 7 | HG02148.hp2 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.259-7868dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101888 | ||||||
chr1:201101947
|
G | A | 3 | a0001c0017t0001g0107a0001c0033t0001g0082a0001c0033t0001g0251 | 3 | HG03209.hp2 NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.259-7926C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101947 | ||||||
chr1:201101978
|
A | G | 1 | a0011c0034t0001g0001 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.259-7957T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101978 | ||||||
chr1:201102100
|
T | A | 6 | a0001c0004t0001g0040a0001c0011t0001g0014a0001c0011t0001g0015others(3): Show | 6 | HG02809.hp2 HG02965.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.258+8064A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102100 | ||||||
chr1:201102175
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+7989T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102175 | ||||||
chr1:201102223
|
C | T | 1 | a0002c0023t0002g0300 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.258+7941G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102223 | ||||||
chr1:201102411
|
C | T | 16 | a0001c0004t0001g0068a0001c0004t0001g0121a0001c0011t0001g0084others(13): Show | 17 | HG00280.hp1 HG01069.hp1 HG01069.hp2 others(14): Show |
intron_variant | MODIFIER | c.258+7753G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102411 | ||||||
chr1:201102526
|
G | A | 4 | a0002c0012t0001g0270a0005c0049t0001g0254a0016c0032t0001g0267others(1): Show | 4 | HG02717.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.258+7638C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102526 | ||||||
chr1:201102580
|
G | T | 1 | a0003c0005t0001g0161 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.258+7584C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102580 | ||||||
chr1:201102595
|
C | T | 1 | a0001c0016t0002g0302 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.258+7569G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102595 | ||||||
chr1:201102596
|
G | A | 1 | a0001c0003t0001g0213 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.258+7568C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102596 | ||||||
chr1:201102609
|
A | G | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+7555T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102609 | ||||||
chr1:201102662
|
A | G | 184 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(181): Show | 187 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(184): Show |
intron_variant | MODIFIER | c.258+7502T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102662 | ||||||
chr1:201102701
|
T | C | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+7463A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102701 | ||||||
chr1:201102756
|
T | G | 181 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(178): Show | 184 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.258+7408A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102756 | ||||||
chr1:201102767
|
T | C | 4 | a0002c0012t0001g0270a0008c0039t0001g0045a0008c0039t0002g0298others(1): Show | 4 | HG02717.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+7397A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102767 | ||||||
chr1:201102791
|
G | A | 1 | a0018c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.258+7373C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102791 | ||||||
chr1:201102954
|
G | T | 3 | a0001c0009t0001g0262a0002c0012t0001g0270a0019c0042t0001g0009 | 3 | HG01243.hp1 HG02717.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.258+7210C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102954 | ||||||
chr1:201102968
|
C | A | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.258+7196G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102968 | ||||||
chr1:201103051
|
C | T | 1 | a0002c0012t0001g0245 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.258+7113G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103051 | ||||||
chr1:201103055
|
C | T | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+7109G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103055 | ||||||
chr1:201103072
|
T | C | 194 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(191): Show | 199 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(196): Show |
intron_variant | MODIFIER | c.258+7092A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103072 | ||||||
chr1:201103080
|
C | T | 3 | a0001c0002t0001g0119a0001c0021t0001g0170a0001c0030t0001g0171 | 3 | HG00408.hp2 HG00544.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.258+7084G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103080 | ||||||
chr1:201103138
|
C | T | 3 | a0001c0002t0001g0051a0001c0004t0001g0018a0004c0006t0001g0060 | 3 | HG01081.hp2 HG04184.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.258+7026G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103138 | ||||||
chr1:201103184
|
T | C | 9 | a0001c0003t0001g0005a0001c0004t0001g0121a0003c0082t0001g0122others(6): Show | 10 | HG01167.hp1 HG01167.hp2 HG01168.hp2 others(7): Show |
intron_variant | MODIFIER | c.258+6980A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103184 | ||||||
chr1:201103224
|
T | C | 221 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(218): Show | 226 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(223): Show |
intron_variant | MODIFIER | c.258+6940A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103224 | ||||||
chr1:201103231
|
G | GT | 227 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(224): Show | 232 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(229): Show |
intron_variant | MODIFIER | c.258+6932_258+6933i others(3): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103231 | ||||||
chr1:201103238
|
T | C | 10 | a0001c0002t0001g0051a0001c0004t0001g0018a0001c0004t0001g0040others(7): Show | 10 | HG01081.hp2 HG01243.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.258+6926A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103238 | ||||||
chr1:201103244
|
C | CA | 55 | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0001t0001g0114others(52): Show | 56 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.258+6919dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103244 | ||||||
chr1:201103244
|
CA | C | 29 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0079others(26): Show | 30 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.258+6919delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103244 | ||||||
chr1:201103373
|
C | T | 5 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+6791G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103373 | ||||||
chr1:201103416
|
AAAGGCTT others(6): Show |
A | 48 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(45): Show | 49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6735_258+6747d others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103416 | ||||||
chr1:201103453
|
T | A | 48 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(45): Show | 49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6711A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103453 | ||||||
chr1:201103497
|
A | G | 1 | a0018c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.258+6667T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103497 | ||||||
chr1:201103521
|
G | C | 48 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(45): Show | 49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6643C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103521 | ||||||
chr1:201103722
|
C | T | 8 | a0001c0003t0001g0289a0001c0013t0001g0007a0001c0013t0001g0292others(5): Show | 9 | HG00323.hp1 HG01081.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.258+6442G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103722 | ||||||
chr1:201103775
|
C | T | 9 | a0001c0001t0001g0088a0001c0011t0001g0084a0001c0011t0001g0085others(6): Show | 10 | HG00140.hp2 HG00280.hp1 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.258+6389G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103775 | ||||||
chr1:201103793
|
G | A | 5 | a0001c0001t0001g0055a0001c0001t0001g0155a0001c0001t0001g0156others(2): Show | 5 | HG00735.hp2 HG01106.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+6371C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103793 | ||||||
chr1:201103803
|
C | T | 1 | a0001c0033t0001g0251 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.258+6361G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103803 | ||||||
chr1:201103819
|
A | T | 1 | a0001c0002t0001g0141 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.258+6345T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103819 | ||||||
chr1:201103820
|
C | A | 1 | a0001c0002t0001g0141 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.258+6344G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103820 | ||||||
chr1:201103912
|
G | A | 2 | a0001c0029t0001g0049a0001c0031t0001g0048 | 2 | HG02074.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.258+6252C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103912 | ||||||
chr1:201103930
|
G | A | 2 | a0001c0007t0001g0216a0002c0010t0001g0215 | 2 | HG02056.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.258+6234C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103930 | ||||||
chr1:201103989
|
GGCCCT | G | 32 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0079others(29): Show | 34 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.258+6170_258+6174d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103989 | ||||||
chr1:201104011
|
C | A | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+6153G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104011 | ||||||
chr1:201104225
|
G | A | 1 | a0001c0029t0001g0049 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.258+5939C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104225 | ||||||
chr1:201104226
|
G | A | 5 | a0001c0001t0001g0239a0001c0025t0001g0076a0001c0025t0001g0236others(2): Show | 5 | HG00558.hp2 HG00738.hp1 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.258+5938C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104226 | ||||||
chr1:201104283
|
A | G | 2 | a0002c0012t0001g0270a0019c0042t0001g0009 | 2 | HG02717.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.258+5881T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104283 | ||||||
chr1:201104288
|
C | T | 5 | a0001c0009t0001g0262a0002c0012t0001g0270a0008c0039t0001g0045others(2): Show | 5 | HG01243.hp1 HG02717.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.258+5876G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104288 | ||||||
chr1:201104301
|
C | G | 5 | a0001c0002t0001g0051a0001c0004t0001g0018a0001c0004t0001g0040others(2): Show | 5 | HG01081.hp2 HG02965.hp1 HG04184.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+5863G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104301 | ||||||
chr1:201104348
|
A | T | 26 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0079others(23): Show | 27 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.258+5816T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104348 | ||||||
chr1:201104352
|
C | T | 49 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(46): Show | 50 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.258+5812G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104352 | ||||||
chr1:201104422
|
T | C | 2 | a0001c0003t0001g0159a0001c0003t0001g0160 | 2 | NA18950.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.258+5742A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104422 | ||||||
chr1:201104427
|
T | C | 49 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(46): Show | 50 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.258+5737A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104427 | ||||||
chr1:201104549
|
C | T | 3 | a0001c0002t0001g0077a0001c0004t0001g0068a0004c0006t0001g0067 | 3 | HG01074.hp1 HG01361.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.258+5615G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104549 | ||||||
chr1:201104563
|
C | T | 94 | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0146others(91): Show | 96 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(93): Show |
intron_variant | MODIFIER | c.258+5601G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104563 | ||||||
chr1:201104715
|
G | A | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+5449C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104715 | ||||||
chr1:201104886
|
T | C | 6 | a0001c0009t0001g0262a0002c0012t0001g0270a0002c0089t0001g0054others(3): Show | 6 | HG01243.hp1 HG01884.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+5278A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104886 | ||||||
chr1:201105042
|
A | G | 1 | a0002c0072t0001g0266 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.258+5122T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105042 | ||||||
chr1:201105165
|
C | T | 93 | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0146others(90): Show | 95 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.258+4999G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105165 | ||||||
chr1:201105231
|
A | G | 4 | a0002c0072t0001g0266a0009c0018t0001g0165a0014c0027t0001g0181others(1): Show | 4 | HG01109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+4933T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105231 | ||||||
chr1:201105254
|
G | A | 16 | a0001c0001t0001g0032a0001c0001t0001g0055a0001c0001t0001g0057others(13): Show | 16 | HG00597.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.258+4910C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105254 | ||||||
chr1:201105275
|
C | T | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+4889G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105275 | ||||||
chr1:201105297
|
C | T | 9 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(6): Show | 9 | HG01884.hp1 HG02615.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.258+4867G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105297 | ||||||
chr1:201105444
|
A | C | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+4720T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105444 | ||||||
chr1:201105516
|
C | A | 1 | a0022c0041t0001g0044 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.258+4648G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105516 | ||||||
chr1:201105561
|
C | T | 1 | a0001c0009t0001g0259 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.258+4603G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105561 | ||||||
chr1:201105660
|
T | C | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+4504A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105660 | ||||||
chr1:201105713
|
C | T | 47 | a0001c0001t0001g0114a0001c0001t0001g0168a0001c0001t0002g0304others(44): Show | 48 | HG00323.hp1 HG00609.hp1 HG01081.hp1 others(45): Show |
intron_variant | MODIFIER | c.258+4451G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105713 | ||||||
chr1:201105718
|
A | T | 210 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(207): Show | 214 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.258+4446T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105718 | ||||||
chr1:201105795
|
G | A | 208 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(205): Show | 212 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(209): Show |
intron_variant | MODIFIER | c.258+4369C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105795 | ||||||
chr1:201105799
|
T | C | 202 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(199): Show | 206 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(203): Show |
intron_variant | MODIFIER | c.258+4365A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105799 | ||||||
chr1:201105824
|
T | G | 1 | a0001c0002t0001g0077 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.258+4340A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105824 | ||||||
chr1:201105861
|
C | A | 1 | a0006c0085t0002g0299 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.258+4303G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105861 | ||||||
chr1:201105865
|
G | A | 2 | a0001c0002t0001g0051a0001c0004t0001g0018 | 2 | HG01081.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.258+4299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105865 | ||||||
chr1:201105866
|
G | A | 42 | a0001c0001t0001g0114a0001c0001t0001g0167a0001c0001t0001g0168others(39): Show | 42 | HG00609.hp1 HG02040.hp1 HG02055.hp1 others(39): Show |
intron_variant | MODIFIER | c.258+4298C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105866 | ||||||
chr1:201105871
|
G | T | 4 | a0001c0001t0001g0172a0001c0021t0001g0170a0001c0030t0001g0171others(1): Show | 4 | HG00408.hp2 HG00544.hp2 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+4293C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105871 | ||||||
chr1:201105923
|
C | T | 1 | a0001c0001t0001g0163 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.258+4241G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105923 | ||||||
chr1:201105942
|
G | T | 2 | a0002c0023t0001g0227a0005c0078t0001g0226 | 2 | HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.258+4222C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105942 | ||||||
chr1:201106048
|
G | A | 2 | a0001c0050t0001g0233a0002c0048t0001g0234 | 2 | HG02109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.258+4116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106048 | ||||||
chr1:201106076
|
C | T | 1 | a0003c0005t0001g0126 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.258+4088G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106076 | ||||||
chr1:201106077
|
C | A | 2 | a0001c0050t0001g0233a0002c0048t0001g0234 | 2 | HG02109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.258+4087G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106077 | ||||||
chr1:201106103
|
A | G | 20 | a0001c0001t0001g0116a0001c0003t0001g0289a0001c0009t0001g0006others(17): Show | 22 | HG00323.hp1 HG00621.hp1 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.258+4061T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106103 | ||||||
chr1:201106117
|
T | C | 136 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0031others(133): Show | 139 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.258+4047A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106117 | ||||||
chr1:201106157
|
C | G | 1 | a0001c0001t0002g0304 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.258+4007G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106157 | ||||||
chr1:201106308
|
C | T | 2 | a0001c0002t0001g0051a0001c0004t0001g0018 | 2 | HG01081.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.258+3856G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106308 | ||||||
chr1:201106343
|
A | G | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.258+3821T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106343 | ||||||
chr1:201106388
|
CT | C | 7 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(4): Show | 8 | HG01109.hp2 HG02451.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.258+3775delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106388 | ||||||
chr1:201106426
|
G | A | 21 | a0001c0001t0001g0217a0001c0001t0002g0304a0001c0002t0001g0115others(18): Show | 21 | HG01978.hp2 HG02040.hp1 HG02280.hp1 others(18): Show |
intron_variant | MODIFIER | c.258+3738C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106426 | ||||||
chr1:201106503
|
G | A | 6 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(3): Show | 6 | HG02970.hp2 HG03195.hp1 NA18522.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+3661C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106503 | ||||||
chr1:201106597
|
T | C | 2 | a0002c0023t0001g0227a0005c0078t0001g0226 | 2 | HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.258+3567A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106597 | ||||||
chr1:201106625
|
T | A | 1 | a0001c0004t0001g0121 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.258+3539A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106625 | ||||||
chr1:201106668
|
T | C | 212 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(209): Show | 216 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.258+3496A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106668 | ||||||
chr1:201106748
|
T | G | 1 | a0001c0003t0001g0242 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.258+3416A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106748 | ||||||
chr1:201106871
|
G | C | 3 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054 | 3 | HG01884.hp2 HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+3293C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106871 | ||||||
chr1:201106974
|
C | T | 1 | a0001c0002t0001g0077 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.258+3190G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106974 | ||||||
chr1:201107039
|
C | T | 210 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(207): Show | 214 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.258+3125G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107039 | ||||||
chr1:201107145
|
C | G | 21 | a0001c0009t0001g0006a0001c0009t0001g0259a0001c0009t0001g0262others(18): Show | 22 | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.258+3019G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107145 | ||||||
chr1:201107162
|
T | A | 209 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(206): Show | 213 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(210): Show |
intron_variant | MODIFIER | c.258+3002A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107162 | ||||||
chr1:201107322
|
A | C | 5 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(2): Show | 5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2842T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107322 | ||||||
chr1:201107343
|
C | T | 4 | a0001c0014t0001g0011a0001c0014t0001g0012a0008c0077t0001g0010others(1): Show | 4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+2821G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107343 | ||||||
chr1:201107385
|
A | G | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+2779T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107385 | ||||||
chr1:201107386
|
T | C | 32 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(29): Show | 33 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.258+2778A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107386 | ||||||
chr1:201107488
|
G | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2676C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107488 | ||||||
chr1:201107491
|
A | C | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+2673T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107491 | ||||||
chr1:201107641
|
G | T | 49 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(46): Show | 49 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.258+2523C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107641 | ||||||
chr1:201107718
|
A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.258+2446T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107718 | ||||||
chr1:201107732
|
C | T | 1 | a0004c0006t0001g0060 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.258+2432G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107732 | ||||||
chr1:201107772
|
G | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2392C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107772 | ||||||
chr1:201107789
|
G | C | 191 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(188): Show | 194 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(191): Show |
intron_variant | MODIFIER | c.258+2375C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107789 | ||||||
chr1:201107874
|
T | C | 5 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(2): Show | 5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2290A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107874 | ||||||
chr1:201107895
|
C | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+2269G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107895 | ||||||
chr1:201107939
|
C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2225G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107939 | ||||||
chr1:201107982
|
C | G | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2182G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107982 | ||||||
chr1:201108019
|
A | T | 1 | a0016c0032t0001g0267 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.258+2145T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108019 | ||||||
chr1:201108084
|
T | C | 183 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(180): Show | 186 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.258+2080A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108084 | ||||||
chr1:201108105
|
A | AT | 18 | a0001c0004t0001g0025a0001c0009t0001g0006a0001c0009t0001g0259others(15): Show | 19 | HG01109.hp2 HG01884.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.258+2058dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108105 | ||||||
chr1:201108105
|
AT | A | 146 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0021others(143): Show | 148 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
intron_variant | MODIFIER | c.258+2058delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108105 | ||||||
chr1:201108136
|
C | T | 5 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0069others(2): Show | 5 | HG01258.hp2 HG01346.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2028G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108136 | ||||||
chr1:201108230
|
C | T | 1 | a0001c0001t0001g0247 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.258+1934G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108230 | ||||||
chr1:201108268
|
G | T | 2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+1896C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108268 | ||||||
chr1:201108308
|
G | A | 1 | a0001c0070t0001g0120 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.258+1856C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108308 | ||||||
chr1:201108341
|
T | G | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1823A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108341 | ||||||
chr1:201108342
|
T | A | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1822A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108342 | ||||||
chr1:201108349
|
C | T | 2 | a0008c0077t0001g0010a0019c0042t0001g0009 | 2 | NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.258+1815G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108349 | ||||||
chr1:201108382
|
C | T | 20 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(17): Show | 20 | HG00438.hp2 HG00544.hp1 HG02071.hp2 others(17): Show |
intron_variant | MODIFIER | c.258+1782G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108382 | ||||||
chr1:201108383
|
A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.258+1781T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108383 | ||||||
chr1:201108438
|
G | T | 1 | a0001c0001t0001g0271 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.258+1726C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108438 | ||||||
chr1:201108512
|
C | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1652G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108512 | ||||||
chr1:201108519
|
C | T | 31 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(28): Show | 32 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.258+1645G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108519 | ||||||
chr1:201108539
|
A | G | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1625T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108539 | ||||||
chr1:201108727
|
C | A | 1 | a0001c0004t0001g0121 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.258+1437G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108727 | ||||||
chr1:201108796
|
C | T | 16 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0069others(13): Show | 16 | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.258+1368G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108796 | ||||||
chr1:201108834
|
T | C | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1330A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108834 | ||||||
chr1:201108855
|
G | A | 2 | a0004c0006t0001g0024a0004c0006t0001g0026 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.258+1309C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108855 | ||||||
chr1:201108863
|
C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1301G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108863 | ||||||
chr1:201108921
|
G | A | 4 | a0001c0014t0001g0011a0001c0014t0001g0012a0008c0077t0001g0010others(1): Show | 4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+1243C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108921 | ||||||
chr1:201109127
|
A | G | 2 | a0001c0007t0002g0303a0001c0016t0002g0302 | 2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.258+1037T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109127 | ||||||
chr1:201109179
|
C | T | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+985G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109179 | ||||||
chr1:201109203
|
C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+961G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109203 | ||||||
chr1:201109243
|
C | CA | 9 | a0001c0004t0001g0025a0001c0009t0001g0262a0001c0014t0001g0252others(6): Show | 9 | HG01168.hp2 HG01243.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.258+920dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | ||||||
chr1:201109243
|
CA | C | 12 | a0001c0001t0001g0230a0001c0002t0001g0231a0001c0004t0001g0068others(9): Show | 12 | HG01074.hp1 HG01361.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.258+920delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | ||||||
chr1:201109243
|
CAA | C | 173 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(170): Show | 176 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(173): Show |
intron_variant | MODIFIER | c.258+919_258+920del others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | ||||||
chr1:201109282
|
C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+882G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109282 | ||||||
chr1:201109389
|
T | C | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+775A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109389 | ||||||
chr1:201109555
|
C | T | 1 | a0009c0018t0001g0165 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.258+609G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109555 | ||||||
chr1:201109559
|
C | T | 1 | a0010c0019t0001g0164 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.258+605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109559 | ||||||
chr1:201109590
|
G | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+574C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109590 | ||||||
chr1:201109685
|
A | G | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+479T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109685 | ||||||
chr1:201109744
|
C | T | 1 | a0032c0091t0001g0033 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.258+420G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109744 | ||||||
chr1:201109745
|
T | C | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+419A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109745 | ||||||
chr1:201109747
|
A | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+417T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109747 | ||||||
chr1:201109773
|
C | T | 3 | a0001c0014t0001g0063a0001c0051t0001g0064a0029c0087t0001g0019 | 3 | HG01175.hp1 HG03704.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.258+391G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109773 | ||||||
chr1:201109800
|
A | T | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+364T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109800 | ||||||
chr1:201109893
|
A | G | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+271T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109893 | ||||||
chr1:201109960
|
G | A | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+204C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109960 | ||||||
chr1:201109963
|
T | TCA | 6 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+199_258+200dup others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109963 | ||||||
chr1:201110070
|
C | T | 1 | a0005c0049t0001g0254 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.258+94G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110070 | ||||||
chr1:201110095
|
C | G | 1 | a0001c0007t0001g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.258+69G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110095 | ||||||
chr1:201110107
|
C | T | 134 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(131): Show | 136 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.258+57G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110107 | ||||||
chr1:201110132
|
C | T | 1 | a0001c0025t0001g0236 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.258+32G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110132 | ||||||
chr1:201110330
|
T | A | 188 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(185): Show | 191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.153-61A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110330 | ||||||
chr1:201110386
|
C | T | 1 | a0003c0015t0001g0061 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.153-117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110386 | ||||||
chr1:201110404
|
C | T | 1 | a0004c0006t0001g0060 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.153-135G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110404 | ||||||
chr1:201110435
|
C | T | 5 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0089t0001g0054others(2): Show | 5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.153-166G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110435 | ||||||
chr1:201110462
|
C | A | 182 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(179): Show | 185 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(182): Show |
intron_variant | MODIFIER | c.153-193G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110462 | ||||||
chr1:201110573
|
C | T | 2 | a0008c0039t0001g0045a0008c0039t0002g0298 | 2 | HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.153-304G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110573 | ||||||
chr1:201110590
|
C | T | 183 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(180): Show | 186 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.153-321G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110590 | ||||||
chr1:201110686
|
T | C | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.153-417A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110686 | ||||||
chr1:201110840
|
C | T | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.153-571G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110840 | ||||||
chr1:201110982
|
C | T | 50 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(47): Show | 50 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.153-713G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110982 | ||||||
chr1:201111063
|
G | GGGGGCTA others(11): Show |
17 | a0001c0009t0001g0006a0001c0009t0001g0259a0001c0009t0001g0264others(14): Show | 18 | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.153-795_153-794ins others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111063 | ||||||
chr1:201111065
|
G | GGGCTACT others(11): Show |
1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.153-797_153-796ins others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111065 | ||||||
chr1:201111153
|
G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.153-884C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111153 | ||||||
chr1:201111165
|
C | T | 16 | a0001c0002t0001g0050a0001c0002t0001g0051a0001c0004t0001g0018others(13): Show | 16 | HG01081.hp2 HG02074.hp2 HG02723.hp2 others(13): Show |
intron_variant | MODIFIER | c.153-896G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111165 | ||||||
chr1:201111169
|
A | C | 33 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(30): Show | 34 | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.153-900T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111169 | ||||||
chr1:201111170
|
T | C | 226 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(223): Show | 231 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(228): Show |
intron_variant | MODIFIER | c.153-901A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111170 | ||||||
chr1:201111215
|
C | T | 1 | a0015c0028t0001g0058 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.153-946G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111215 | ||||||
chr1:201111218
|
C | T | 2 | a0001c0001t0001g0057a0001c0007t0001g0056 | 2 | NA18967.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.153-949G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111218 | ||||||
chr1:201111241
|
G | A | 31 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(28): Show | 33 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.152+947C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111241 | ||||||
chr1:201111266
|
C | T | 12 | a0001c0001t0001g0055a0001c0009t0001g0006a0001c0009t0001g0264others(9): Show | 13 | HG01109.hp2 HG01255.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.152+922G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111266 | ||||||
chr1:201111352
|
G | C | 26 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(23): Show | 26 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.152+836C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111352 | ||||||
chr1:201111421
|
C | A | 24 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(21): Show | 24 | HG01243.hp1 HG01891.hp1 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.152+767G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111421 | ||||||
chr1:201111606
|
C | G | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.152+582G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111606 | ||||||
chr1:201111649
|
T | G | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.152+539A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111649 | ||||||
chr1:201111657
|
C | G | 24 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(21): Show | 24 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.152+531G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111657 | ||||||
chr1:201111701
|
G | A | 2 | a0008c0077t0001g0010a0019c0042t0001g0009 | 2 | NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.152+487C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111701 | ||||||
chr1:201111770
|
G | A | 4 | a0001c0014t0001g0011a0001c0014t0001g0012a0008c0077t0001g0010others(1): Show | 4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.152+418C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111770 | ||||||
chr1:201111804
|
C | T | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.152+384G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111804 | ||||||
chr1:201111836
|
G | A | 28 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(25): Show | 28 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.152+352C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111836 | ||||||
chr1:201111850
|
T | C | 14 | a0001c0009t0001g0259a0001c0009t0001g0262a0001c0014t0001g0252others(11): Show | 14 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.152+338A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111850 | ||||||
chr1:201111886
|
G | A | 28 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(25): Show | 28 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.152+302C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111886 | ||||||
chr1:201111889
|
A | G | 39 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(36): Show | 41 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(38): Show |
intron_variant | MODIFIER | c.152+299T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111889 | ||||||
chr1:201111918
|
TTCC | T | 3 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0004t0001g0040 | 3 | HG02071.hp2 HG02965.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.152+267_152+269del others(3): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111918 | ||||||
chr1:201111922
|
T | TCCTCCTC others(21): Show |
222 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(219): Show | 227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.152+238_152+265dup others(28): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | ||||||
chr1:201111922
|
T | TCCTCCTC others(49): Show |
1 | a0002c0012t0001g0245 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.152+210_152+265dup others(56): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | ||||||
chr1:201111922
|
T | TCCTCCTC others(22): Show |
1 | a0022c0041t0001g0044 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.152+265_152+266ins others(29): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | ||||||
chr1:201111922
|
T | TCCTCCTC others(18): Show |
48 | a0001c0001t0001g0271a0001c0001t0001g0276a0001c0001t0001g0279others(45): Show | 50 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.152+265_152+266ins others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | ||||||
chr1:201111952
|
C | CTCCTCCT others(58): Show |
2 | a0001c0014t0001g0011a0001c0014t0001g0012 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | ||||||
chr1:201111952
|
C | CTCCTCCT others(58): Show |
26 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(23): Show | 26 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | ||||||
chr1:201111952
|
C | CTCCTCCT others(58): Show |
2 | a0001c0001t0001g0247a0001c0001t0001g0248 | 2 | HG02071.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | ||||||
chr1:201111985
|
C | CCTCTTCC others(21): Show |
1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.152+202_152+203ins others(28): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111985 | ||||||
chr1:201112132
|
C | T | 14 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(11): Show | 14 | HG02040.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.152+56G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112132 | ||||||
chr1:201112150
|
C | T | 2 | a0002c0008t0001g0038a0017c0093t0001g0246 | 2 | HG01070.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.152+38G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112150 | ||||||
chr1:201112155
|
A | AC | 20 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0030others(17): Show | 20 | HG00639.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.152+32dupG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112155 | ||||||
chr1:201112155
|
AC | A | 68 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0271others(65): Show | 70 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.152+32delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112155 | ||||||
chr1:201112158
|
C | T | 8 | a0001c0014t0001g0011a0001c0014t0001g0012a0002c0023t0002g0300others(5): Show | 8 | HG02055.hp2 HG02109.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.152+30G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112158 | ||||||
chr1:201112162
|
C | G | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.152+26G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112162 | ||||||
chr1:201112162
|
C | T | 4 | a0001c0011t0001g0014a0001c0011t0001g0015a0001c0011t0001g0016others(1): Show | 4 | HG02970.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.152+26G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112162 | ||||||
chr1:201112171
|
C | G | 14 | a0001c0001t0002g0304a0001c0003t0002g0306a0001c0003t0002g0307others(11): Show | 14 | HG02040.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.152+17G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112171 |