| geneid | 131873 |
|---|---|
| ensemblid | ENSG00000206384.11 |
| hgncid | 27023 |
| symbol | COL6A6 |
| name | collagen type VI alpha 6 chain |
| refseq_nuc | NM_001102608.3 |
| refseq_prot | NP_001096078.1 |
| ensembl_nuc | ENST00000358511.11 |
| ensembl_prot | ENSP00000351310.6 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 130517177 |
| end | 130677042 |
| strand | + |
| ver | v1.2 |
| region | chr3:130517177-130677042 |
| region5000 | chr3:130512177-130682042 |
| regionname0 | COL6A6_chr3_130517177_130677042 |
| regionname5000 | COL6A6_chr3_130512177_130682042 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 2263 | 33 | 4 | 9 | 11 | 1 | 7 | 7 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002 | 0/0 | 2263 | 31 | 4 | 13 | 11 | 0 | 3 | 8 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003 | 0/0 | 2263 | 21 | 12 | 0 | 9 | 0 | 0 | 9 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004 | 1/0 | 2263 | 20 | 3 | 2 | 12 | 0 | 2 | 12 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005 | 0/0 | 2263 | 16 | 1 | 4 | 5 | 0 | 6 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006 | 0/0 | 2263 | 15 | 7 | 2 | 2 | 0 | 4 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007 | 0/0 | 2263 | 14 | 8 | 0 | 5 | 0 | 1 | 5 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008 | 0/0 | 2263 | 13 | 7 | 6 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009 | 0/0 | 2263 | 12 | 0 | 2 | 6 | 0 | 4 | 5 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010 | 0/0 | 2263 | 10 | 6 | 0 | 3 | 0 | 1 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0011 | 0/0 | 2263 | 9 | 1 | 2 | 4 | 1 | 1 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0012 | 0/0 | 2263 | 8 | 0 | 2 | 3 | 0 | 3 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013 | 0/0 | 2263 | 7 | 2 | 0 | 4 | 0 | 1 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0014 | 0/0 | 2263 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015 | 0/0 | 2263 | 4 | 0 | 0 | 2 | 0 | 2 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016 | 0/0 | 2263 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0017 | 0/0 | 2263 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0018 | 0/0 | 2263 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0019 | 0/0 | 2263 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0020 | 0/0 | 1433 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0021 | 0/0 | 2263 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0022 | 0/0 | 2263 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0023 | 0/0 | 2263 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0024 | 0/0 | 2263 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0025 | 0/0 | 2263 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0026 | 0/0 | 2263 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0027 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0028 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0029 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0030 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0031 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0032 | 0/0 | 355 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0033 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0034 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0035 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0036 | 0/0 | 1695 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0037 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0038 | 0/0 | 1466 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0039 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0040 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0041 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0042 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0043 | 0/0 | 2263 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0044 | 0/0 | 1479 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0045 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0046 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0047 | 0/0 | 2263 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0048 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0049 | 0/0 | 2263 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0050 | 0/0 | 2263 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 6792 | 32 | 4 | 9 | 10 | 1 | 7 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0002 | 0/0 | 6792 | 29 | 4 | 12 | 10 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0003 | 0/0 | 6792 | 15 | 1 | 4 | 5 | 0 | 5 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0004 | 1/0 | 6792 | 13 | 1 | 0 | 11 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0005 | 0/0 | 6792 | 11 | 0 | 2 | 6 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0006 | 0/0 | 6792 | 11 | 6 | 5 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0007 | 0/0 | 6792 | 10 | 4 | 2 | 2 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0008 | 0/0 | 6792 | 9 | 1 | 2 | 4 | 1 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0009 | 0/0 | 6792 | 8 | 0 | 2 | 3 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0010 | 0/0 | 6792 | 8 | 2 | 0 | 6 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0011 | 0/0 | 6792 | 4 | 3 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0012 | 0/0 | 6792 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0013 | 0/0 | 6792 | 4 | 1 | 0 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0014 | 0/0 | 6792 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0015 | 0/0 | 6792 | 3 | 2 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0016 | 0/0 | 6792 | 3 | 1 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0017 | 0/0 | 6792 | 3 | 2 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0018 | 0/0 | 6792 | 3 | 1 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0019 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0020 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0021 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0022 | 0/0 | 6792 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0023 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0024 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0025 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0026 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0027 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0028 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0029 | 0/0 | 6792 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0030 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0031 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0032 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0033 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0034 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0035 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0036 | 0/0 | 6792 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0037 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0038 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0039 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0040 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0041 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0042 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0043 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0044 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0045 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0046 | 0/0 | 6792 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0047 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0048 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0049 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0050 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0051 | 0/0 | 6792 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0052 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0053 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0054 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0055 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0056 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0057 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0058 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0059 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0060 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0061 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0062 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0063 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0064 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0065 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0066 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0067 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0068 | 0/0 | 6809 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0069 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0070 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0071 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0072 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0073 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0074 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0075 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0076 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0077 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0078 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0079 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0080 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0081 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0082 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0083 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0084 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0085 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| c0086 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 1898 | 61 | 23 | 12 | 16 | 1 | 9 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0002 | 1/1 | 1898 | 42 | 7 | 3 | 24 | 1 | 5 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0003 | 0/0 | 1898 | 40 | 9 | 13 | 12 | 0 | 6 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0004 | 0/0 | 1898 | 34 | 24 | 7 | 0 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0005 | 0/0 | 1898 | 19 | 1 | 5 | 12 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0006 | 0/0 | 1898 | 13 | 0 | 1 | 11 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0007 | 0/0 | 1898 | 10 | 5 | 2 | 0 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0008 | 0/0 | 1898 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0009 | 0/0 | 1898 | 7 | 0 | 1 | 5 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0010 | 0/0 | 1898 | 6 | 0 | 1 | 3 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0011 | 0/0 | 1898 | 3 | 1 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0012 | 0/0 | 1898 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0013 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0014 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0015 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0016 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0017 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0018 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0019 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0020 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0021 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0022 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0023 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0024 | 0/0 | 1898 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0025 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0026 | 0/0 | 1898 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0027 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0028 | 0/0 | 1898 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0029 | 0/0 | 1898 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| t0030 | 0/0 | 1898 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| 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 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0109 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0117 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0187 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 6792 | 32 | 4 | 9 | 10 | 1 | 7 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0056 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002 | 0/0 | 6792 | 29 | 4 | 12 | 10 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0049 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0051 | 0/0 | 6792 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0010 | 0/0 | 6792 | 8 | 2 | 0 | 6 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0013 | 0/0 | 6792 | 4 | 1 | 0 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0023 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0027 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0060 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0061 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0062 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0070 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0071 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004 | 1/0 | 6792 | 13 | 1 | 0 | 11 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0022 | 0/0 | 6792 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0026 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0029 | 0/0 | 6792 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0076 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003 | 0/0 | 6792 | 15 | 1 | 4 | 5 | 0 | 5 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0059 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007 | 0/0 | 6792 | 10 | 4 | 2 | 2 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0015 | 0/0 | 6792 | 3 | 2 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0063 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0067 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0017 | 0/0 | 6792 | 3 | 2 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0018 | 0/0 | 6792 | 3 | 1 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0032 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0040 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0072 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0081 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0083 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0084 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006 | 0/0 | 6792 | 11 | 6 | 5 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0034 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005 | 0/0 | 6792 | 11 | 0 | 2 | 6 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0055 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0014 | 0/0 | 6792 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0016 | 0/0 | 6792 | 3 | 1 | 0 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0038 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0086 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0011c0008 | 0/0 | 6792 | 9 | 1 | 2 | 4 | 1 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0012c0009 | 0/0 | 6792 | 8 | 0 | 2 | 3 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0012 | 0/0 | 6792 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0028 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0075 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0014c0011 | 0/0 | 6792 | 4 | 3 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015c0036 | 0/0 | 6792 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015c0037 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016c0020 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016c0053 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0017c0019 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0018c0033 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0019c0021 | 0/0 | 6792 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0020c0025 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0021c0030 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0022c0024 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0023c0039 | 0/0 | 6792 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0024c0031 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0025c0073 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0025c0074 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0026c0035 | 0/0 | 6792 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0027c0041 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0028c0042 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0029c0085 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0030c0043 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0031c0044 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0032c0079 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0033c0077 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0034c0078 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0035c0058 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0036c0068 | 0/0 | 6809 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0037c0069 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0038c0065 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0039c0064 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0040c0066 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0041c0082 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0042c0080 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0043c0046 | 0/0 | 6792 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0044c0052 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0045c0050 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0046c0054 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0047c0048 | 0/0 | 6792 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0048c0047 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0049c0057 | 0/0 | 6792 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0050c0045 | 0/0 | 6792 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8689 | 14 | 2 | 4 | 4 | 0 | 4 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0002 | 0/1 | 8689 | 11 | 0 | 2 | 5 | 1 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0004 | 0/0 | 8689 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0007 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0010 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0021 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0001t0024 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0001c0056t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0001 | 0/0 | 8689 | 4 | 1 | 1 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0002 | 0/0 | 8689 | 5 | 0 | 0 | 5 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0003 | 0/0 | 8689 | 9 | 0 | 7 | 1 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0004 | 0/0 | 8689 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0005 | 0/0 | 8689 | 4 | 0 | 3 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0007 | 0/0 | 8689 | 2 | 1 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0016 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0002t0022 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0049t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0002c0051t0007 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0010t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0010t0003 | 0/0 | 8689 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0010t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0010t0009 | 0/0 | 8689 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0013t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0013t0005 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0013t0014 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0023t0003 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0023t0007 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0027t0004 | 0/0 | 8689 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0060t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0061t0015 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0062t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0070t0002 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0003c0071t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0001 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0002 | 1/0 | 8689 | 5 | 1 | 0 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0009 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0004t0010 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0022t0001 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0022t0010 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0026t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0026t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0029t0002 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0029t0004 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0004c0076t0002 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0001 | 0/0 | 8689 | 5 | 1 | 3 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0002 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0004 | 0/0 | 8689 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0006 | 0/0 | 8689 | 3 | 0 | 1 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0008 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0010 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0003t0011 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0005c0059t0030 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007t0001 | 0/0 | 8689 | 3 | 2 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007t0002 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007t0003 | 0/0 | 8689 | 3 | 1 | 1 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007t0005 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0007t0007 | 0/0 | 8689 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0015t0001 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0015t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0015t0012 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0063t0023 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0006c0067t0029 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0017t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0017t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0017t0006 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0018t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0018t0007 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0018t0009 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0032t0003 | 0/0 | 8689 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0040t0004 | 0/0 | 8689 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0072t0020 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0081t0013 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0083t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0007c0084t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006t0003 | 0/0 | 8689 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006t0004 | 0/0 | 8689 | 6 | 2 | 4 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006t0007 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0006t0027 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0034t0001 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0008c0034t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0001 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0004 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0006 | 0/0 | 8689 | 5 | 0 | 0 | 4 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0008 | 0/0 | 8689 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0005t0011 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0009c0055t0001 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0014t0001 | 0/0 | 8689 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0014t0002 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0016t0001 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0016t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0016t0010 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0038t0002 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0010c0086t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0011c0008t0001 | 0/0 | 8689 | 7 | 0 | 2 | 3 | 1 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0011c0008t0002 | 0/0 | 8689 | 2 | 1 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0012c0009t0003 | 0/0 | 8689 | 4 | 0 | 1 | 0 | 0 | 3 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0012c0009t0005 | 0/0 | 8689 | 4 | 0 | 1 | 3 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0012t0001 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0012t0006 | 0/0 | 8689 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0012t0008 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0028t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0028t0011 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0013c0075t0001 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0014c0011t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0014c0011t0003 | 0/0 | 8689 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0014c0011t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015c0036t0008 | 0/0 | 8689 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015c0037t0006 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0015c0037t0008 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016c0020t0001 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016c0020t0008 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0016c0053t0008 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0017c0019t0003 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0017c0019t0009 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0018c0033t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0018c0033t0025 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0019c0021t0003 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0019c0021t0005 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0020c0025t0002 | 0/0 | 8689 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0021c0030t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0021c0030t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0022c0024t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0022c0024t0018 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0023c0039t0017 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0023c0039t0026 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0024c0031t0003 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0024c0031t0012 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0025c0073t0028 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0025c0074t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0026c0035t0001 | 0/0 | 8689 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0027c0041t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0028c0042t0003 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0029c0085t0007 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0030c0043t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0031c0044t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0032c0079t0003 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0033c0077t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0034c0078t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0035c0058t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0036c0068t0002 | 0/0 | 8706 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0037c0069t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0038c0065t0002 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0039c0064t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0040c0066t0003 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0041c0082t0006 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0042c0080t0001 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0043c0046t0003 | 0/0 | 8689 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0044c0052t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0045c0050t0005 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0046c0054t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0047c0048t0003 | 0/0 | 8689 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0048c0047t0019 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0049c0057t0004 | 0/0 | 8689 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| a0050c0045t0002 | 0/0 | 8689 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | copy fasta | chr3 | 130512177 | 130682042 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0109 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0004g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0004g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0005g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0007g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0010g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0021g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0001t0024g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0001c0056t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0003g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0004g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0004g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0004g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0005g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0005g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0005g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0005g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0007g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0007g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0016g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0002t0022g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0049t0003g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0002c0051t0007g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0003g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0003g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0003g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0004g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0009g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0009g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0010t0009g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0013t0003g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0013t0005g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0013t0005g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0013t0014g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0023t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0023t0007g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0027t0004g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0027t0004g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0060t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0061t0015g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0062t0004g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0070t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0003c0071t0004g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0002g0117 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0003g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0005g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0009g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0009g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0010g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0004t0010g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0022t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0022t0010g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0026t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0026t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0029t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0029t0004g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0004c0076t0002g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0003g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0004g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0004g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0006g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0006g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0006g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0008g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0010g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0003t0011g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0005c0059t0030g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0003g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0003g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0005g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0007g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0007t0007g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0015t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0015t0004g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0015t0012g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0063t0023g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0006c0067t0029g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0017t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0017t0004g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0017t0006g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0018t0003g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0018t0007g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0018t0009g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0032t0003g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0032t0003g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0040t0004g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0040t0004g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0072t0020g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0081t0013g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0083t0005g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0007c0084t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0003g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0003g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0004g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0007g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0006t0027g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0034t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0008c0034t0004g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0004g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0006g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0006g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0006g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0006g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0006g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0008g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0008g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0005t0011g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0009c0055t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0014t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0014t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0014t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0014t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0016t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0016t0004g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0016t0010g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0038t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0038t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0010c0086t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0011c0008t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0003g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0003g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0003g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0003g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0005g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0005g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0005g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0012c0009t0005g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0012t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0012t0006g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0012t0006g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0012t0008g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0028t0004g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0028t0011g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0013c0075t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0014c0011t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0014c0011t0003g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0014c0011t0003g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0014c0011t0004g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0015c0036t0008g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0015c0037t0006g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0015c0037t0008g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0016c0020t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0016c0020t0008g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0016c0053t0008g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0017c0019t0003g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0017c0019t0009g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0018c0033t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0018c0033t0025g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0019c0021t0003g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0019c0021t0005g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0020c0025t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0020c0025t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0021c0030t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0021c0030t0004g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0022c0024t0005g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0022c0024t0018g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0023c0039t0017g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0023c0039t0026g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0024c0031t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0024c0031t0012g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0025c0073t0028g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0025c0074t0004g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0026c0035t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0027c0041t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0028c0042t0003g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0029c0085t0007g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0030c0043t0003g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0031c0044t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0032c0079t0003g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0033c0077t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0034c0078t0004g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0035c0058t0004g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0036c0068t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0037c0069t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0038c0065t0002g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0039c0064t0005g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0040c0066t0003g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0041c0082t0006g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0042c0080t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0043c0046t0003g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0044c0052t0005g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0045c0050t0005g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0046c0054t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0047c0048t0003g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0048c0047t0019g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0049c0057t0004g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| a0050c0045t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0011 | c0008 | t0001 | g0187 | EUR | FIN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0107 | EUR | FIN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00408 | hp1 | a0011 | c0008 | t0001 | g0131 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00408 | hp2 | a0012 | c0009 | t0005 | g0054 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00558 | hp1 | a0002 | c0002 | t0002 | g0084 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00558 | hp2 | a0005 | c0003 | t0006 | g0174 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00597 | hp1 | a0016 | c0020 | t0008 | g0145 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00597 | hp2 | a0022 | c0024 | t0018 | g0097 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00609 | hp1 | a0001 | c0056 | t0002 | g0059 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00609 | hp2 | a0002 | c0002 | t0001 | g0013 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00621 | hp1 | a0031 | c0044 | t0002 | g0096 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00621 | hp2 | a0010 | c0016 | t0001 | g0113 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00639 | hp1 | a0043 | c0046 | t0003 | g0024 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00642 | hp1 | a0011 | c0008 | t0001 | g0126 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0105 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00673 | hp1 | a0002 | c0002 | t0016 | g0050 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00673 | hp2 | a0005 | c0003 | t0001 | g0157 | EAS | CHS | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00735 | hp2 | a0019 | c0021 | t0003 | g0198 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00738 | hp1 | a0012 | c0009 | t0003 | g0159 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG00738 | hp2 | a0008 | c0006 | t0004 | g0241 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01069 | hp1 | a0002 | c0002 | t0003 | g0158 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01069 | hp2 | a0005 | c0003 | t0001 | g0005 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01070 | hp1 | a0002 | c0002 | t0005 | g0070 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01070 | hp2 | a0005 | c0003 | t0001 | g0151 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01071 | hp1 | a0002 | c0002 | t0003 | g0171 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01071 | hp2 | a0005 | c0003 | t0001 | g0152 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01074 | hp1 | a0002 | c0002 | t0003 | g0134 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01074 | hp2 | a0012 | c0009 | t0005 | g0063 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01081 | hp1 | a0002 | c0002 | t0003 | g0116 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01109 | hp2 | a0008 | c0034 | t0001 | g0102 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01167 | hp1 | a0008 | c0006 | t0004 | g0242 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01167 | hp2 | a0002 | c0002 | t0003 | g0149 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01169 | hp1 | a0008 | c0006 | t0004 | g0243 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01169 | hp2 | a0001 | c0001 | t0010 | g0255 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01192 | hp1 | a0011 | c0008 | t0001 | g0125 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01192 | hp2 | a0002 | c0002 | t0005 | g0042 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01243 | hp1 | a0004 | c0029 | t0002 | g0036 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01243 | hp2 | a0008 | c0006 | t0003 | g0122 | AMR | PUR | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01255 | hp1 | a0002 | c0002 | t0005 | g0076 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01255 | hp2 | a0014 | c0011 | t0003 | g0178 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01257 | hp1 | a0006 | c0007 | t0003 | g0130 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01257 | hp2 | a0001 | c0001 | t0004 | g0003 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01261 | hp1 | a0001 | c0001 | t0007 | g0090 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01261 | hp2 | a0009 | c0005 | t0001 | g0141 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01361 | hp1 | a0017 | c0019 | t0009 | g0258 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01361 | hp2 | a0002 | c0002 | t0001 | g0095 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01496 | hp1 | a0008 | c0006 | t0004 | g0231 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01496 | hp2 | a0002 | c0051 | t0007 | g0238 | AMR | CLM | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01884 | hp1 | a0001 | c0001 | t0004 | g0207 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01884 | hp2 | a0010 | c0014 | t0002 | g0197 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01891 | hp1 | a0008 | c0006 | t0027 | g0232 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01891 | hp2 | a0003 | c0071 | t0004 | g0200 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01943 | hp1 | a0006 | c0007 | t0005 | g0052 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01943 | hp2 | a0002 | c0002 | t0003 | g0108 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0163 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01952 | hp2 | a0005 | c0003 | t0006 | g0051 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01975 | hp1 | a0002 | c0002 | t0004 | g0220 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01975 | hp2 | a0002 | c0002 | t0003 | g0186 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01981 | hp1 | a0009 | c0005 | t0008 | g0167 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG01981 | hp2 | a0004 | c0029 | t0004 | g0236 | AMR | PEL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02015 | hp1 | a0046 | c0054 | t0002 | g0055 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02015 | hp2 | a0009 | c0005 | t0006 | g0073 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02055 | hp1 | a0014 | c0011 | t0003 | g0179 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02055 | hp2 | a0007 | c0032 | t0003 | g0129 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02074 | hp1 | a0015 | c0037 | t0008 | g0169 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02080 | hp1 | a0023 | c0039 | t0026 | g0112 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02080 | hp2 | a0005 | c0003 | t0008 | g0184 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02083 | hp1 | a0013 | c0012 | t0006 | g0086 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02083 | hp2 | a0006 | c0007 | t0001 | g0123 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02129 | hp1 | a0010 | c0038 | t0002 | g0077 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02129 | hp2 | a0040 | c0066 | t0003 | g0175 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02132 | hp1 | a0013 | c0012 | t0001 | g0115 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0064 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02135 | hp2 | a0011 | c0008 | t0002 | g0049 | EAS | KHV | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02145 | hp1 | a0008 | c0006 | t0003 | g0180 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02145 | hp2 | a0017 | c0019 | t0003 | g0127 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02257 | hp1 | a0006 | c0063 | t0023 | g0168 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02257 | hp2 | a0010 | c0014 | t0001 | g0132 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02280 | hp1 | a0006 | c0007 | t0001 | g0191 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02280 | hp2 | a0003 | c0060 | t0001 | g0150 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02572 | hp1 | a0021 | c0030 | t0001 | g0156 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02572 | hp2 | a0018 | c0033 | t0001 | g0193 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02602 | hp2 | a0013 | c0075 | t0001 | g0185 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02615 | hp1 | a0033 | c0077 | t0001 | g0148 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02615 | hp2 | a0002 | c0002 | t0007 | g0201 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02622 | hp1 | a0024 | c0031 | t0012 | g0025 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02622 | hp2 | a0028 | c0042 | t0003 | g0118 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02630 | hp1 | a0029 | c0085 | t0007 | g0239 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02630 | hp2 | a0014 | c0011 | t0001 | g0177 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02647 | hp1 | a0003 | c0062 | t0004 | g0216 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02647 | hp2 | a0018 | c0033 | t0025 | g0192 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02683 | hp1 | a0009 | c0005 | t0011 | g0094 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02683 | hp2 | a0005 | c0003 | t0004 | g0229 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02717 | hp1 | a0010 | c0016 | t0004 | g0209 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02717 | hp2 | a0006 | c0007 | t0002 | g0029 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02738 | hp1 | a0001 | c0001 | t0024 | g0140 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02738 | hp2 | a0006 | c0067 | t0029 | g0259 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02809 | hp1 | a0002 | c0002 | t0001 | g0166 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02809 | hp2 | a0004 | c0026 | t0001 | g0023 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02896 | hp1 | a0010 | c0014 | t0001 | g0018 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02896 | hp2 | a0003 | c0027 | t0004 | g0213 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02897 | hp1 | a0003 | c0027 | t0004 | g0214 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02897 | hp2 | a0014 | c0011 | t0004 | g0217 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0183 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02922 | hp2 | a0008 | c0034 | t0004 | g0233 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0121 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02970 | hp2 | a0026 | c0035 | t0001 | g0002 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02976 | hp1 | a0006 | c0007 | t0003 | g0182 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02976 | hp2 | a0002 | c0002 | t0004 | g0202 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03017 | hp1 | a0005 | c0003 | t0010 | g0246 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03017 | hp2 | a0047 | c0048 | t0003 | g0120 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03041 | hp1 | a0006 | c0015 | t0012 | g0033 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03041 | hp2 | a0003 | c0023 | t0003 | g0022 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03098 | hp1 | a0019 | c0021 | t0005 | g0030 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03098 | hp2 | a0024 | c0031 | t0003 | g0016 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03139 | hp1 | a0020 | c0025 | t0002 | g0027 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03139 | hp2 | a0003 | c0010 | t0001 | g0181 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03195 | hp1 | a0013 | c0028 | t0004 | g0199 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03195 | hp2 | a0010 | c0014 | t0001 | g0017 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03209 | hp1 | a0004 | c0026 | t0004 | g0208 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03209 | hp2 | a0025 | c0073 | t0028 | g0218 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03225 | hp1 | a0007 | c0040 | t0004 | g0235 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03225 | hp2 | a0006 | c0015 | t0004 | g0225 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03239 | hp1 | a0002 | c0002 | t0003 | g0004 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03239 | hp2 | a0005 | c0003 | t0004 | g0224 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03453 | hp1 | a0011 | c0008 | t0002 | g0034 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03453 | hp2 | a0021 | c0030 | t0004 | g0103 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03486 | hp1 | a0007 | c0072 | t0020 | g0190 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03486 | hp2 | a0008 | c0006 | t0004 | g0226 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03490 | hp2 | a0015 | c0036 | t0008 | g0001 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03491 | hp1 | a0006 | c0007 | t0007 | g0093 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03491 | hp2 | a0032 | c0079 | t0003 | g0160 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03492 | hp1 | a0006 | c0007 | t0007 | g0092 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03492 | hp2 | a0015 | c0036 | t0008 | g0001 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03516 | hp1 | a0007 | c0040 | t0004 | g0234 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03516 | hp2 | a0008 | c0006 | t0007 | g0227 | AFR | ESN | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03540 | hp1 | a0007 | c0032 | t0003 | g0128 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03540 | hp2 | a0049 | c0057 | t0004 | g0091 | AFR | GWD | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03579 | hp1 | a0003 | c0010 | t0004 | g0222 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03579 | hp2 | a0003 | c0061 | t0015 | g0196 | AFR | MSL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03669 | hp1 | a0012 | c0009 | t0003 | g0136 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03669 | hp2 | a0004 | c0022 | t0001 | g0010 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03688 | hp1 | a0005 | c0003 | t0002 | g0098 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03704 | hp1 | a0009 | c0005 | t0004 | g0223 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03704 | hp2 | a0011 | c0008 | t0001 | g0012 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03710 | hp1 | a0009 | c0005 | t0006 | g0072 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03710 | hp2 | a0012 | c0009 | t0003 | g0147 | SAS | PJL | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03831 | hp1 | a0007 | c0018 | t0009 | g0257 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03831 | hp2 | a0002 | c0002 | t0007 | g0228 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03834 | hp1 | a0010 | c0016 | t0010 | g0256 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03834 | hp2 | a0005 | c0059 | t0030 | g0221 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0139 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03927 | hp2 | a0005 | c0003 | t0011 | g0237 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0087 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG03942 | hp2 | a0002 | c0002 | t0005 | g0100 | SAS | BEB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG04115 | hp1 | a0006 | c0015 | t0001 | g0205 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG04115 | hp2 | a0009 | c0055 | t0001 | g0176 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG04199 | hp1 | a0012 | c0009 | t0003 | g0170 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG04199 | hp2 | a0004 | c0076 | t0002 | g0053 | SAS | STU | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18522 | hp1 | a0020 | c0025 | t0002 | g0028 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18522 | hp2 | a0008 | c0006 | t0004 | g0230 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18906 | hp1 | a0010 | c0086 | t0001 | g0155 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18906 | hp2 | a0003 | c0013 | t0014 | g0031 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0111 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18942 | hp2 | a0039 | c0064 | t0005 | g0085 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18945 | hp1 | a0009 | c0005 | t0008 | g0204 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18945 | hp2 | a0004 | c0004 | t0002 | g0038 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18946 | hp2 | a0005 | c0003 | t0006 | g0088 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18947 | hp1 | a0005 | c0003 | t0003 | g0014 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18947 | hp2 | a0002 | c0002 | t0002 | g0041 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18948 | hp1 | a0002 | c0002 | t0022 | g0165 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18948 | hp2 | a0012 | c0009 | t0005 | g0106 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18949 | hp1 | a0003 | c0013 | t0005 | g0044 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18951 | hp1 | a0004 | c0004 | t0001 | g0172 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18951 | hp2 | a0003 | c0010 | t0003 | g0261 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18952 | hp1 | a0004 | c0004 | t0003 | g0119 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18952 | hp2 | a0002 | c0002 | t0002 | g0071 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18953 | hp1 | a0050 | c0045 | t0002 | g0069 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18953 | hp2 | a0004 | c0022 | t0010 | g0249 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0056 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18954 | hp2 | a0030 | c0043 | t0003 | g0143 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18959 | hp2 | a0003 | c0013 | t0005 | g0045 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18960 | hp1 | a0011 | c0008 | t0001 | g0154 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18960 | hp2 | a0009 | c0005 | t0006 | g0057 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18964 | hp1 | a0004 | c0004 | t0002 | g0047 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18964 | hp2 | a0016 | c0053 | t0008 | g0161 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18966 | hp1 | a0012 | c0009 | t0005 | g0104 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18966 | hp2 | a0007 | c0018 | t0003 | g0015 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18968 | hp1 | a0045 | c0050 | t0005 | g0067 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18968 | hp2 | a0013 | c0012 | t0006 | g0040 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18971 | hp1 | a0004 | c0004 | t0005 | g0043 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18971 | hp2 | a0009 | c0005 | t0002 | g0062 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18977 | hp1 | a0002 | c0002 | t0002 | g0075 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18977 | hp2 | a0003 | c0010 | t0003 | g0007 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18979 | hp1 | a0007 | c0081 | t0013 | g0080 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18979 | hp2 | a0037 | c0069 | t0002 | g0046 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18982 | hp1 | a0003 | c0010 | t0009 | g0253 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18982 | hp2 | a0002 | c0049 | t0003 | g0189 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18983 | hp1 | a0002 | c0002 | t0002 | g0074 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18983 | hp2 | a0010 | c0038 | t0002 | g0082 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18988 | hp1 | a0003 | c0010 | t0009 | g0251 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18988 | hp2 | a0009 | c0005 | t0006 | g0058 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18995 | hp1 | a0004 | c0004 | t0010 | g0248 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18995 | hp2 | a0001 | c0001 | t0005 | g0061 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18998 | hp1 | a0004 | c0004 | t0009 | g0247 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA18998 | hp2 | a0006 | c0007 | t0003 | g0260 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19002 | hp2 | a0041 | c0082 | t0006 | g0089 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19005 | hp1 | a0048 | c0047 | t0019 | g0099 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19005 | hp2 | a0003 | c0010 | t0009 | g0252 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19007 | hp1 | a0009 | c0005 | t0006 | g0068 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19007 | hp2 | a0007 | c0017 | t0006 | g0078 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19030 | hp1 | a0035 | c0058 | t0004 | g0240 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19030 | hp2 | a0007 | c0018 | t0007 | g0245 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19043 | hp1 | a0006 | c0007 | t0001 | g0194 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19043 | hp2 | a0027 | c0041 | t0001 | g0021 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19058 | hp1 | a0002 | c0002 | t0001 | g0124 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19058 | hp2 | a0004 | c0004 | t0001 | g0206 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19064 | hp1 | a0004 | c0004 | t0002 | g0039 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19064 | hp2 | a0007 | c0083 | t0005 | g0048 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19065 | hp1 | a0013 | c0012 | t0008 | g0008 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19065 | hp2 | a0007 | c0084 | t0002 | g0083 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19068 | hp1 | a0003 | c0010 | t0003 | g0006 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19068 | hp2 | a0023 | c0039 | t0017 | g0101 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19070 | hp1 | a0015 | c0037 | t0006 | g0081 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19070 | hp2 | a0002 | c0002 | t0003 | g0162 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19077 | hp1 | a0022 | c0024 | t0005 | g0037 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19077 | hp2 | a0016 | c0020 | t0001 | g0144 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19083 | hp1 | a0003 | c0013 | t0003 | g0262 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19083 | hp2 | a0004 | c0004 | t0009 | g0254 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19086 | hp1 | a0036 | c0068 | t0002 | g0079 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19086 | hp2 | a0011 | c0008 | t0001 | g0173 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19087 | hp1 | a0044 | c0052 | t0005 | g0060 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19087 | hp2 | a0004 | c0004 | t0010 | g0250 | EAS | JPT | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19240 | hp1 | a0007 | c0017 | t0004 | g0210 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA19240 | hp2 | a0003 | c0070 | t0002 | g0035 | AFR | YRI | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA20905 | hp1 | a0038 | c0065 | t0002 | g0203 | SAS | GIH | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA20905 | hp2 | a0001 | c0001 | t0002 | g0110 | SAS | GIH | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02109 | hp1 | a0008 | c0006 | t0001 | g0032 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02109 | hp2 | a0002 | c0002 | t0004 | g0219 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02486 | hp1 | a0025 | c0074 | t0004 | g0215 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02486 | hp2 | a0003 | c0023 | t0007 | g0211 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02559 | hp1 | a0004 | c0004 | t0002 | g0026 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG02559 | hp2 | a0013 | c0028 | t0011 | g0244 | AFR | ACB | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG06807 | hp1 | a0026 | c0035 | t0001 | g0002 | AFR | USA | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| HG06807 | hp2 | a0034 | c0078 | t0004 | g0212 | AFR | USA | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA20300 | hp1 | a0042 | c0080 | t0001 | g0020 | AFR | USA | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA20300 | hp2 | a0005 | c0003 | t0001 | g0153 | AFR | USA | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA21309 | hp1 | a0007 | c0017 | t0001 | g0009 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| NA21309 | hp2 | a0001 | c0001 | t0021 | g0019 | AFR | LWK | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0109 | REF | REF | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| homoSapiens_grch38 | hp1 | a0004 | c0004 | t0002 | g0117 | REF | REF | COL6A6_chr3_130512177_130682042 | COL6A6 | chr3 | 130512177 | 130682042 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130563467
|
G | A | 1 | a0027 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.464G>A | p.Arg155Gln | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/37 | 716/8689 | 464/6792 | 155/2263 | chr3 | 130563467 | ||
| chr3:130563539
|
C | A | 1 | a0017 | 2 | HG01361.hp1 HG02145.hp2 |
missense_variant | MODERATE | c.536C>A | p.Thr179Lys | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/37 | 788/8689 | 536/6792 | 179/2263 | chr3 | 130563539 | ||
| chr3:130563563
|
G | A | 2 | a0014a0028 | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
missense_variant | MODERATE | c.560G>A | p.Arg187Gln | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/37 | 812/8689 | 560/6792 | 187/2263 | chr3 | 130563563 | ||
| chr3:130563607
|
A | T | 1 | a0029 | 1 | HG02630.hp1 | missense_variant | MODERATE | c.604A>T | p.Ile202Phe | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/37 | 856/8689 | 604/6792 | 202/2263 | chr3 | 130563607 | ||
| chr3:130563659
|
T | C | 1 | a0030 | 1 | NA18954.hp2 | missense_variant | MODERATE | c.656T>C | p.Val219Ala | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/37 | 908/8689 | 656/6792 | 219/2263 | chr3 | 130563659 | ||
| chr3:130565219
|
T | C | 1 | a0026 | 2 | HG02970.hp2 HG06807.hp1 |
missense_variant | MODERATE | c.887T>C | p.Ile296Thr | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/37 | 1139/8689 | 887/6792 | 296/2263 | chr3 | 130565219 | ||
| chr3:130565312
|
G | A | 1 | a0031 | 1 | HG00621.hp1 | missense_variant | MODERATE | c.980G>A | p.Arg327Gln | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/37 | 1232/8689 | 980/6792 | 327/2263 | chr3 | 130565312 | ||
| chr3:130565398
|
C | T | 1 | a0032 | 1 | HG03491.hp2 | stop_gained | HIGH | c.1066C>T | p.Arg356* | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/37 | 1318/8689 | 1066/6792 | 356/2263 | chr3 | 130565398 | ||
| chr3:130565440
|
G | A | 16 | a0001a0002a0009others(13): Show | 98 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(95): Show |
missense_variant | MODERATE | c.1108G>A | p.Ala370Thr | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/37 | 1360/8689 | 1108/6792 | 370/2263 | chr3 | 130565440 | ||
| chr3:130566801
|
A | C | 4 | a0008a0018a0033others(1): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
missense_variant | MODERATE | c.1382A>C | p.Glu461Ala | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1634/8689 | 1382/6792 | 461/2263 | chr3 | 130566801 | ||
| chr3:130566842
|
G | A | 2 | a0019a0035 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
missense_variant | MODERATE | c.1423G>A | p.Val475Ile | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1675/8689 | 1423/6792 | 475/2263 | chr3 | 130566842 | ||
| chr3:130566965
|
G | A | 1 | a0050 | 1 | NA18953.hp1 | missense_variant | MODERATE | c.1546G>A | p.Gly516Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1798/8689 | 1546/6792 | 516/2263 | chr3 | 130566965 | ||
| chr3:130567085
|
C | T | 11 | a0007a0010a0014others(8): Show | 43 | HG00621.hp2 HG01255.hp2 HG01884.hp2 others(40): Show |
missense_variant | MODERATE | c.1666C>T | p.Pro556Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1918/8689 | 1666/6792 | 556/2263 | chr3 | 130567085 | ||
| chr3:130567196
|
G | A | 1 | a0043 | 1 | HG00639.hp1 | missense_variant | MODERATE | c.1777G>A | p.Val593Met | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 2029/8689 | 1777/6792 | 593/2263 | chr3 | 130567196 | ||
| chr3:130568253
|
G | A | 1 | a0042 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.2050G>A | p.Asp684Asn | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/37 | 2302/8689 | 2050/6792 | 684/2263 | chr3 | 130568253 | ||
| chr3:130571132
|
C | T | 1 | a0023 | 2 | HG02080.hp1 NA19068.hp2 |
missense_variant | MODERATE | c.2716C>T | p.Arg906Cys | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/37 | 2968/8689 | 2716/6792 | 906/2263 | chr3 | 130571132 | ||
| chr3:130571225
|
C | T | 1 | a0049 | 1 | HG03540.hp2 | missense_variant | MODERATE | c.2809C>T | p.Arg937Trp | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/37 | 3061/8689 | 2809/6792 | 937/2263 | chr3 | 130571225 | ||
| chr3:130581618
|
C | G | 2 | a0036a0037 | 2 | NA18979.hp2 NA19086.hp1 |
missense_variant | MODERATE | c.3605C>G | p.Thr1202Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 9/37 | 3857/8689 | 3605/6792 | 1202/2263 | chr3 | 130581618 | ||
| chr3:130581669
|
G | A | 2 | a0018a0033 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
missense_variant | MODERATE | c.3656G>A | p.Arg1219His | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 9/37 | 3908/8689 | 3656/6792 | 1219/2263 | chr3 | 130581669 | ||
| chr3:130586514
|
G | A | 1 | a0048 | 1 | NA19005.hp1 | missense_variant | MODERATE | c.3979G>A | p.Ala1327Thr | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/37 | 4231/8689 | 3979/6792 | 1327/2263 | chr3 | 130586514 | ||
| chr3:130591075
|
T | C | 1 | a0047 | 1 | HG03017.hp2 | missense_variant | MODERATE | c.4253T>C | p.Leu1418Pro | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/37 | 4505/8689 | 4253/6792 | 1418/2263 | chr3 | 130591075 | ||
| chr3:130592554
|
C | T | 7 | a0005a0006a0011others(4): Show | 47 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(44): Show |
missense_variant | MODERATE | c.4286C>T | p.Ala1429Val | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 14/37 | 4538/8689 | 4286/6792 | 1429/2263 | chr3 | 130592554 | ||
| chr3:130592568
|
G | T | 1 | a0020 | 2 | HG03139.hp1 NA18522.hp1 |
stop_gained | HIGH | c.4300G>T | p.Gly1434* | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 14/37 | 4552/8689 | 4300/6792 | 1434/2263 | chr3 | 130592568 | ||
| chr3:130593088
|
G | T | 1 | a0038 | 1 | NA20905.hp1 | stop_gained | HIGH | c.4399G>T | p.Gly1467* | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 16/37 | 4651/8689 | 4399/6792 | 1467/2263 | chr3 | 130593088 | ||
| chr3:130593220
|
A | T | 1 | a0044 | 1 | NA19087.hp1 | stop_gained | HIGH | c.4438A>T | p.Arg1480* | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/37 | 4690/8689 | 4438/6792 | 1480/2263 | chr3 | 130593220 | ||
| chr3:130598428
|
C | A | 2 | a0024a0028 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
missense_variant&splice_region_variant | MODERATE | c.4597C>A | p.Gln1533Lys | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/37 | 4849/8689 | 4597/6792 | 1533/2263 | chr3 | 130598428 | ||
| chr3:130635724
|
C | CAGGAGAG others(10): Show |
1 | a0036 | 1 | NA19086.hp1 | frameshift_variant&stop_gained | HIGH | c.5058_5074dupAGAGAC others(11): Show |
p.Gly1692fs | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/37 | 5327/8689 | 5075/6792 | 1692/2263 | INFO_REALIGN_3_PRIME | chr3 | 130635724 | |
| chr3:130641683
|
C | T | 5 | a0012a0032a0039others(2): Show | 12 | HG00408.hp2 HG00738.hp1 HG01074.hp2 others(9): Show |
missense_variant | MODERATE | c.5123C>T | p.Ser1708Phe | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/37 | 5375/8689 | 5123/6792 | 1708/2263 | chr3 | 130641683 | ||
| chr3:130641704
|
C | G | 1 | a0033 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.5144C>G | p.Pro1715Arg | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/37 | 5396/8689 | 5144/6792 | 1715/2263 | chr3 | 130641704 | ||
| chr3:130643012
|
G | A | 10 | a0005a0009a0013others(7): Show | 48 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(45): Show |
missense_variant | MODERATE | c.5216G>A | p.Arg1739Gln | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/37 | 5468/8689 | 5216/6792 | 1739/2263 | chr3 | 130643012 | ||
| chr3:130649222
|
C | G | 1 | a0041 | 1 | NA19002.hp2 | missense_variant | MODERATE | c.5393C>G | p.Ala1798Gly | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/37 | 5645/8689 | 5393/6792 | 1798/2263 | chr3 | 130649222 | ||
| chr3:130649225
|
A | G | 40 | a0002a0003a0005others(37): Show | 186 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(183): Show |
missense_variant | MODERATE | c.5396A>G | p.His1799Arg | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/37 | 5648/8689 | 5396/6792 | 1799/2263 | chr3 | 130649225 | ||
| chr3:130649254
|
G | A | 2 | a0022a0045 | 3 | HG00597.hp2 NA18968.hp1 NA19077.hp1 |
missense_variant | MODERATE | c.5425G>A | p.Ala1809Thr | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/37 | 5677/8689 | 5425/6792 | 1809/2263 | chr3 | 130649254 | ||
| chr3:130661756
|
A | G | 1 | a0021 | 2 | HG02572.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.5950A>G | p.Ile1984Val | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/37 | 6202/8689 | 5950/6792 | 1984/2263 | chr3 | 130661756 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130560427
|
C | T | 2 | a0007c0040a0010c0086 | 3 | HG03225.hp1 HG03516.hp1 NA18906.hp1 |
splice_region_variant&synonymous_variant | LOW | c.63C>T | p.Ser21Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/37 | 315/8689 | 63/6792 | 21/2263 | chr3 | 130560427 | ||
| chr3:130565016
|
C | T | 10 | a0007c0081a0007c0083a0007c0084others(7): Show | 15 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(12): Show |
synonymous_variant | LOW | c.684C>T | p.Ala228Ala | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/37 | 936/8689 | 684/6792 | 228/2263 | chr3 | 130565016 | ||
| chr3:130567036
|
C | T | 2 | a0004c0076a0013c0075 | 2 | HG02602.hp2 HG04199.hp2 |
synonymous_variant | LOW | c.1617C>T | p.Cys539Cys | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1869/8689 | 1617/6792 | 539/2263 | chr3 | 130567036 | ||
| chr3:130567039
|
C | T | 2 | a0014c0011a0028c0042 | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
synonymous_variant | LOW | c.1620C>T | p.His540His | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 1872/8689 | 1620/6792 | 540/2263 | chr3 | 130567039 | ||
| chr3:130567195
|
C | T | 1 | a0026c0035 | 2 | HG02970.hp2 HG06807.hp1 |
synonymous_variant | LOW | c.1776C>T | p.Tyr592Tyr | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/37 | 2028/8689 | 1776/6792 | 592/2263 | chr3 | 130567195 | ||
| chr3:130568252
|
C | T | 4 | a0003c0071a0004c0029a0013c0028others(1): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
synonymous_variant | LOW | c.2049C>T | p.Ser683Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/37 | 2301/8689 | 2049/6792 | 683/2263 | chr3 | 130568252 | ||
| chr3:130568354
|
C | T | 1 | a0003c0070 | 1 | NA19240.hp2 | synonymous_variant | LOW | c.2151C>T | p.Gly717Gly | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/37 | 2403/8689 | 2151/6792 | 717/2263 | chr3 | 130568354 | ||
| chr3:130570828
|
G | T | 1 | a0003c0027 | 2 | HG02896.hp2 HG02897.hp1 |
synonymous_variant | LOW | c.2412G>T | p.Arg804Arg | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/37 | 2664/8689 | 2412/6792 | 804/2263 | chr3 | 130570828 | ||
| chr3:130570843
|
C | T | 11 | a0003c0071a0004c0029a0007c0032others(8): Show | 27 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(24): Show |
synonymous_variant | LOW | c.2427C>T | p.Asp809Asp | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/37 | 2679/8689 | 2427/6792 | 809/2263 | chr3 | 130570843 | ||
| chr3:130570955
|
C | A | 1 | a0005c0059 | 1 | HG03834.hp2 | synonymous_variant | LOW | c.2539C>A | p.Arg847Arg | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/37 | 2791/8689 | 2539/6792 | 847/2263 | chr3 | 130570955 | ||
| chr3:130574500
|
C | T | 1 | a0004c0026 | 2 | HG02809.hp2 HG03209.hp1 |
synonymous_variant | LOW | c.3522C>T | p.Asn1174Asn | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/37 | 3774/8689 | 3522/6792 | 1174/2263 | chr3 | 130574500 | ||
| chr3:130581806
|
T | C | 35 | a0001c0001a0002c0002a0002c0049others(32): Show | 118 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(115): Show |
synonymous_variant | LOW | c.3793T>C | p.Leu1265Leu | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 9/37 | 4045/8689 | 3793/6792 | 1265/2263 | chr3 | 130581806 | ||
| chr3:130593087
|
C | T | 2 | a0003c0062a0027c0041 | 2 | HG02647.hp1 NA19043.hp2 |
synonymous_variant | LOW | c.4398C>T | p.Asp1466Asp | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 16/37 | 4650/8689 | 4398/6792 | 1466/2263 | chr3 | 130593087 | ||
| chr3:130598379
|
T | G | 1 | a0002c0049 | 1 | NA18982.hp2 | synonymous_variant | LOW | c.4548T>G | p.Val1516Val | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/37 | 4800/8689 | 4548/6792 | 1516/2263 | chr3 | 130598379 | ||
| chr3:130598430
|
A | G | 1 | a0006c0067 | 1 | HG02738.hp2 | splice_region_variant&synonymous_variant | LOW | c.4599A>G | p.Gln1533Gln | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/37 | 4851/8689 | 4599/6792 | 1533/2263 | chr3 | 130598430 | ||
| chr3:130599777
|
C | A | 2 | a0004c0076a0013c0075 | 2 | HG02602.hp2 HG04199.hp2 |
synonymous_variant | LOW | c.4620C>A | p.Gly1540Gly | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/37 | 4872/8689 | 4620/6792 | 1540/2263 | chr3 | 130599777 | ||
| chr3:130649457
|
G | A | 35 | a0003c0013a0003c0027a0003c0060others(32): Show | 78 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(75): Show |
synonymous_variant | LOW | c.5628G>A | p.Ala1876Ala | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/37 | 5880/8689 | 5628/6792 | 1876/2263 | chr3 | 130649457 | ||
| chr3:130649493
|
C | T | 1 | a0002c0051 | 1 | HG01496.hp2 | synonymous_variant | LOW | c.5664C>T | p.Phe1888Phe | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/37 | 5916/8689 | 5664/6792 | 1888/2263 | chr3 | 130649493 | ||
| chr3:130658681
|
C | T | 1 | a0003c0061 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.5739C>T | p.Asp1913Asp | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/37 | 5991/8689 | 5739/6792 | 1913/2263 | chr3 | 130658681 | ||
| chr3:130675202
|
C | T | 1 | a0003c0070 | 1 | NA19240.hp2 | splice_region_variant&synonymous_variant | LOW | c.6597C>T | p.Ser2199Ser | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 6849/8689 | 6597/6792 | 2199/2263 | chr3 | 130675202 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130517275
|
C | G | 111 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(108): Show | 180 | HG00280.hp1 HG00408.hp1 HG00597.hp1 others(177): Show |
5_prime_UTR_variant | MODIFIER | c.-154C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43090 | chr3 | 130517275 | |||||
| chr3:130517293
|
C | T | 1 | a0007c0072t0020 | 1 | HG03486.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-136C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | chr3 | 130517293 | ||||||
| chr3:130517313
|
C | T | 47 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(44): Show | 64 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(61): Show |
5_prime_UTR_variant | MODIFIER | c.-116C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43052 | chr3 | 130517313 | |||||
| chr3:130517314
|
C | T | 1 | a0005c0059t0030 | 1 | HG03834.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-115C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | chr3 | 130517314 | ||||||
| chr3:130517321
|
C | G | 10 | a0001c0001t0010a0003c0010t0009a0004c0004t0009others(7): Show | 14 | HG01169.hp2 HG01361.hp1 HG02738.hp2 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-108C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43044 | chr3 | 130517321 | |||||
| chr3:130517330
|
C | G | 2 | a0022c0024t0018a0048c0047t0019 | 2 | HG00597.hp2 NA19005.hp1 |
5_prime_UTR_variant | MODIFIER | c.-99C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43035 | chr3 | 130517330 | |||||
| chr3:130517338
|
G | A | 1 | a0001c0001t0021 | 1 | NA21309.hp2 | 5_prime_UTR_variant | MODIFIER | c.-91G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43027 | chr3 | 130517338 | |||||
| chr3:130675585
|
C | T | 1 | a0025c0073t0028 | 1 | HG03209.hp2 | 3_prime_UTR_variant | MODIFIER | c.*188C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 188 | chr3 | 130675585 | |||||
| chr3:130675593
|
A | G | 2 | a0023c0039t0017a0023c0039t0026 | 2 | HG02080.hp1 NA19068.hp2 |
3_prime_UTR_variant | MODIFIER | c.*196A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 196 | chr3 | 130675593 | |||||
| chr3:130675705
|
T | C | 2 | a0002c0002t0022a0007c0081t0013 | 2 | NA18948.hp1 NA18979.hp1 |
3_prime_UTR_variant | MODIFIER | c.*308T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 308 | chr3 | 130675705 | |||||
| chr3:130675711
|
A | T | 3 | a0006c0015t0012a0018c0033t0025a0024c0031t0012 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
3_prime_UTR_variant | MODIFIER | c.*314A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 314 | chr3 | 130675711 | |||||
| chr3:130675842
|
T | C | 50 | a0001c0001t0005a0001c0001t0007a0002c0002t0003others(47): Show | 80 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*445T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 445 | chr3 | 130675842 | |||||
| chr3:130675884
|
C | T | 50 | a0001c0001t0005a0001c0001t0007a0002c0002t0003others(47): Show | 80 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*487C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 487 | chr3 | 130675884 | |||||
| chr3:130676003
|
C | T | 50 | a0001c0001t0005a0001c0001t0007a0002c0002t0003others(47): Show | 80 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*606C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 606 | chr3 | 130676003 | |||||
| chr3:130676137
|
A | C | 1 | a0001c0001t0024 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*740A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 740 | chr3 | 130676137 | |||||
| chr3:130676474
|
C | T | 20 | a0005c0003t0006a0005c0003t0008a0005c0003t0011others(17): Show | 29 | HG00558.hp2 HG00597.hp1 HG01952.hp2 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*1077C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1077 | chr3 | 130676474 | |||||
| chr3:130676643
|
A | G | 1 | a0002c0002t0016 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1246A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1246 | chr3 | 130676643 | |||||
| chr3:130676664
|
G | A | 1 | a0003c0013t0014 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1267G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1267 | chr3 | 130676664 | |||||
| chr3:130676891
|
T | C | 1 | a0006c0063t0023 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1494T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1494 | chr3 | 130676891 | |||||
| chr3:130676905
|
A | G | 51 | a0001c0001t0005a0001c0001t0007a0002c0002t0003others(48): Show | 81 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(78): Show |
3_prime_UTR_variant | MODIFIER | c.*1508A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1508 | chr3 | 130676905 | |||||
| chr3:130676954
|
G | A | 1 | a0008c0006t0027 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1557G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 37/37 | 1557 | chr3 | 130676954 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130517525
|
A | C | 3 | a0003c0010t0003g0261a0003c0013t0003g0262a0006c0007t0003g0260 | 3 | NA18951.hp2 NA18998.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.-32+128A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517525 | ||||||
| chr3:130517548
|
A | T | 53 | a0001c0001t0004g0207a0001c0001t0010g0255a0002c0002t0004g0219others(50): Show | 53 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(50): Show |
intron_variant | MODIFIER | c.-32+151A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517548 | ||||||
| chr3:130517554
|
C | G | 1 | a0004c0004t0001g0206 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.-32+157C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517554 | ||||||
| chr3:130517600
|
C | G | 14 | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(11): Show | 14 | HG01169.hp2 HG01361.hp1 HG02738.hp2 others(11): Show |
intron_variant | MODIFIER | c.-32+203C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517600 | ||||||
| chr3:130517671
|
A | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-32+274A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517671 | ||||||
| chr3:130517784
|
A | G | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-32+387A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517784 | ||||||
| chr3:130517927
|
G | A | 1 | a0001c0001t0004g0003 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-32+530G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517927 | ||||||
| chr3:130517934
|
G | C | 36 | a0001c0001t0001g0011a0001c0001t0021g0019a0002c0002t0001g0013others(33): Show | 38 | HG00609.hp2 HG00639.hp1 HG01069.hp2 others(35): Show |
intron_variant | MODIFIER | c.-32+537G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517934 | ||||||
| chr3:130517980
|
G | C | 54 | a0001c0001t0002g0056a0001c0001t0002g0064a0001c0001t0002g0065others(51): Show | 54 | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(51): Show |
intron_variant | MODIFIER | c.-32+583G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517980 | ||||||
| chr3:130517991
|
A | G | 1 | a0009c0005t0008g0204 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.-32+594A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130517991 | ||||||
| chr3:130518184
|
G | C | 20 | a0001c0001t0001g0011a0001c0001t0004g0003a0001c0001t0007g0090others(17): Show | 21 | HG00609.hp2 HG01069.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-32+787G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518184 | ||||||
| chr3:130518516
|
CT | C | 25 | a0001c0001t0001g0011a0001c0001t0004g0207a0001c0001t0021g0019others(22): Show | 27 | HG00609.hp2 HG00639.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.-32+1127delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130518516 | |||||
| chr3:130518632
|
G | A | 25 | a0001c0001t0001g0011a0001c0001t0004g0207a0001c0001t0021g0019others(22): Show | 27 | HG00609.hp2 HG00639.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.-32+1235G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518632 | ||||||
| chr3:130518635
|
T | C | 1 | a0002c0002t0001g0095 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-32+1238T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518635 | ||||||
| chr3:130518667
|
C | G | 1 | a0041c0082t0006g0089 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-32+1270C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518667 | ||||||
| chr3:130518698
|
G | T | 25 | a0001c0001t0001g0011a0001c0001t0004g0207a0001c0001t0021g0019others(22): Show | 27 | HG00609.hp2 HG00639.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.-32+1301G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518698 | ||||||
| chr3:130518955
|
T | C | 6 | a0001c0001t0004g0003a0001c0001t0007g0090a0006c0007t0007g0092others(3): Show | 6 | HG01257.hp2 HG01261.hp1 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+1558T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130518955 | ||||||
| chr3:130519023
|
C | T | 4 | a0002c0002t0004g0202a0002c0002t0007g0201a0003c0071t0004g0200others(1): Show | 4 | HG01891.hp2 HG02615.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-32+1626C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519023 | ||||||
| chr3:130519326
|
C | T | 4 | a0003c0070t0002g0035a0004c0029t0002g0036a0006c0015t0012g0033others(1): Show | 4 | HG01243.hp1 HG03041.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+1929C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519326 | ||||||
| chr3:130519338
|
C | A | 85 | a0001c0001t0002g0056a0001c0001t0002g0064a0001c0001t0002g0065others(82): Show | 85 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.-32+1941C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519338 | ||||||
| chr3:130519536
|
TA | T | 89 | a0001c0001t0002g0056a0001c0001t0002g0064a0001c0001t0002g0065others(86): Show | 89 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.-32+2140delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519536 | ||||||
| chr3:130519538
|
T | G | 89 | a0001c0001t0002g0056a0001c0001t0002g0064a0001c0001t0002g0065others(86): Show | 89 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.-32+2141T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519538 | ||||||
| chr3:130519560
|
A | C | 5 | a0007c0018t0007g0245a0008c0006t0004g0241a0008c0006t0004g0242others(2): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+2163A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519560 | ||||||
| chr3:130519739
|
C | T | 93 | a0001c0001t0001g0195a0001c0001t0002g0056a0001c0001t0002g0064others(90): Show | 93 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.-32+2342C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130519739 | ||||||
| chr3:130520031
|
G | T | 7 | a0002c0002t0004g0202a0002c0002t0007g0201a0003c0071t0004g0200others(4): Show | 7 | HG01891.hp2 HG02572.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+2634G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520031 | ||||||
| chr3:130520091
|
A | G | 23 | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(20): Show | 23 | HG00735.hp2 HG00738.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.-32+2694A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520091 | ||||||
| chr3:130520164
|
A | G | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-32+2767A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520164 | ||||||
| chr3:130520229
|
T | C | 66 | a0001c0001t0001g0195a0001c0001t0002g0056a0001c0001t0002g0064others(63): Show | 66 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(63): Show |
intron_variant | MODIFIER | c.-32+2832T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520229 | ||||||
| chr3:130520303
|
A | G | 1 | a0002c0051t0007g0238 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.-32+2906A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520303 | ||||||
| chr3:130520334
|
C | T | 7 | a0004c0004t0002g0026a0006c0007t0002g0029a0007c0072t0020g0190others(4): Show | 7 | HG02559.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+2937C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520334 | ||||||
| chr3:130520336
|
A | G | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-32+2939A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520336 | ||||||
| chr3:130520353
|
C | A | 1 | a0008c0034t0001g0102 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-32+2956C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520353 | ||||||
| chr3:130520354
|
G | A | 38 | a0001c0001t0001g0011a0001c0001t0004g0207a0001c0001t0021g0019others(35): Show | 40 | HG00609.hp2 HG00639.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.-32+2957G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520354 | ||||||
| chr3:130520723
|
C | T | 1 | a0007c0072t0020g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-32+3326C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520723 | ||||||
| chr3:130520765
|
T | C | 1 | a0029c0085t0007g0239 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-32+3368T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520765 | ||||||
| chr3:130520880
|
G | A | 91 | a0001c0001t0001g0011a0001c0001t0002g0105a0001c0001t0002g0107others(88): Show | 93 | HG00280.hp2 HG00597.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.-32+3483G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520880 | ||||||
| chr3:130520903
|
A | G | 8 | a0001c0001t0002g0105a0001c0001t0002g0107a0001c0001t0002g0109others(5): Show | 8 | HG00280.hp2 HG00642.hp2 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.-32+3506A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130520903 | ||||||
| chr3:130521019
|
A | G | 4 | a0002c0002t0004g0202a0002c0002t0007g0201a0003c0071t0004g0200others(1): Show | 4 | HG01891.hp2 HG02615.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-32+3622A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521019 | ||||||
| chr3:130521101
|
G | A | 4 | a0001c0001t0001g0114a0010c0016t0001g0113a0013c0012t0001g0115others(1): Show | 4 | HG00621.hp2 HG02074.hp2 HG02080.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+3704G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521101 | ||||||
| chr3:130521156
|
T | C | 1 | a0002c0002t0005g0042 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-32+3759T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521156 | ||||||
| chr3:130521693
|
C | T | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-32+4296C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521693 | ||||||
| chr3:130521738
|
G | A | 5 | a0005c0003t0002g0098a0022c0024t0018g0097a0031c0044t0002g0096others(2): Show | 5 | HG00597.hp2 HG00621.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+4341G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521738 | ||||||
| chr3:130521929
|
C | CT | 27 | a0001c0001t0001g0188a0002c0002t0003g0186a0002c0002t0004g0220others(24): Show | 27 | HG00280.hp1 HG01109.hp2 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.-32+4538dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130521929 | |||||
| chr3:130521966
|
A | G | 1 | a0003c0013t0003g0262 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-32+4569A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521966 | ||||||
| chr3:130521978
|
C | T | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-32+4581C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130521978 | ||||||
| chr3:130522586
|
A | C | 1 | a0043c0046t0003g0024 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-32+5189A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130522586 | ||||||
| chr3:130522802
|
C | T | 5 | a0007c0018t0007g0245a0008c0006t0004g0241a0008c0006t0004g0242others(2): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+5405C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130522802 | ||||||
| chr3:130522877
|
C | T | 6 | a0001c0001t0004g0003a0001c0001t0007g0090a0006c0007t0007g0092others(3): Show | 6 | HG01257.hp2 HG01261.hp1 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+5480C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130522877 | ||||||
| chr3:130522897
|
G | C | 30 | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(27): Show | 30 | HG00735.hp2 HG00738.hp2 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.-32+5500G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130522897 | ||||||
| chr3:130523071
|
T | C | 48 | a0001c0001t0004g0003a0001c0001t0007g0090a0001c0001t0010g0255others(45): Show | 48 | HG00597.hp2 HG00621.hp1 HG00735.hp2 others(45): Show |
intron_variant | MODIFIER | c.-32+5674T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523071 | ||||||
| chr3:130523404
|
C | T | 27 | a0001c0001t0001g0188a0002c0002t0003g0186a0002c0002t0004g0220others(24): Show | 27 | HG00280.hp1 HG01109.hp2 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.-32+6007C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523404 | ||||||
| chr3:130523417
|
T | C | 5 | a0007c0018t0007g0245a0008c0006t0004g0241a0008c0006t0004g0242others(2): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+6020T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523417 | ||||||
| chr3:130523591
|
C | T | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-32+6194C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523591 | ||||||
| chr3:130523603
|
C | T | 17 | a0001c0001t0004g0003a0001c0001t0007g0090a0003c0070t0002g0035others(14): Show | 17 | HG00597.hp2 HG00621.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.-32+6206C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523603 | ||||||
| chr3:130523730
|
C | G | 1 | a0013c0012t0001g0115 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-32+6333C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523730 | ||||||
| chr3:130523914
|
G | A | 106 | a0001c0001t0001g0011a0001c0001t0001g0188a0001c0001t0002g0105others(103): Show | 108 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(105): Show |
intron_variant | MODIFIER | c.-32+6517G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523914 | ||||||
| chr3:130523920
|
G | A | 1 | a0002c0002t0003g0116 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-32+6523G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130523920 | ||||||
| chr3:130524010
|
C | T | 4 | a0001c0001t0001g0183a0003c0010t0001g0181a0006c0007t0003g0182others(1): Show | 4 | HG02145.hp1 HG02922.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+6613C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524010 | ||||||
| chr3:130524022
|
G | T | 106 | a0001c0001t0001g0011a0001c0001t0001g0188a0001c0001t0002g0105others(103): Show | 108 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(105): Show |
intron_variant | MODIFIER | c.-32+6625G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524022 | ||||||
| chr3:130524209
|
C | G | 261 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(258): Show | 263 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(260): Show |
intron_variant | MODIFIER | c.-32+6812C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524209 | ||||||
| chr3:130524277
|
C | T | 5 | a0007c0018t0007g0245a0008c0006t0004g0241a0008c0006t0004g0242others(2): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+6880C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524277 | ||||||
| chr3:130524346
|
A | G | 3 | a0004c0026t0004g0208a0007c0017t0004g0210a0010c0016t0004g0209 | 3 | HG02717.hp1 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+6949A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524346 | ||||||
| chr3:130524405
|
G | A | 76 | a0001c0001t0001g0011a0001c0001t0001g0188a0001c0001t0002g0105others(73): Show | 78 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.-32+7008G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524405 | ||||||
| chr3:130524415
|
C | A | 27 | a0001c0001t0001g0188a0002c0002t0003g0186a0002c0002t0004g0220others(24): Show | 27 | HG00280.hp1 HG01109.hp2 HG01496.hp1 others(24): Show |
intron_variant | MODIFIER | c.-32+7018C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524415 | ||||||
| chr3:130524532
|
C | T | 1 | a0005c0003t0011g0237 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-32+7135C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524532 | ||||||
| chr3:130524547
|
G | A | 1 | a0028c0042t0003g0118 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-32+7150G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524547 | ||||||
| chr3:130524558
|
A | G | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-32+7161A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524558 | ||||||
| chr3:130524574
|
A | G | 3 | a0004c0026t0004g0208a0007c0017t0004g0210a0010c0016t0004g0209 | 3 | HG02717.hp1 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+7177A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524574 | ||||||
| chr3:130524628
|
G | A | 9 | a0001c0001t0001g0188a0002c0002t0003g0186a0002c0002t0004g0220others(6): Show | 9 | HG00280.hp1 HG01975.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.-32+7231G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524628 | ||||||
| chr3:130524635
|
G | GGACTTTA others(481): Show |
1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-32+7240_-32+7727d others(490): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130524635 | |||||
| chr3:130524761
|
G | T | 6 | a0003c0013t0014g0031a0003c0061t0015g0196a0008c0006t0001g0032others(3): Show | 6 | HG00735.hp2 HG01884.hp2 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+7364G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524761 | ||||||
| chr3:130524878
|
T | C | 31 | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(28): Show | 31 | HG00735.hp2 HG00738.hp2 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.-32+7481T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130524878 | ||||||
| chr3:130525003
|
A | G | 8 | a0004c0004t0002g0026a0006c0007t0002g0029a0007c0072t0020g0190others(5): Show | 8 | HG02559.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.-32+7606A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525003 | ||||||
| chr3:130525276
|
G | A | 124 | a0001c0001t0001g0011a0001c0001t0001g0188a0001c0001t0002g0105others(121): Show | 126 | HG00280.hp1 HG00280.hp2 HG00597.hp2 others(123): Show |
intron_variant | MODIFIER | c.-32+7879G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525276 | ||||||
| chr3:130525318
|
AT | A | 3 | a0004c0004t0009g0247a0004c0004t0010g0248a0004c0022t0010g0249 | 3 | NA18953.hp2 NA18995.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.-32+7925delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130525318 | |||||
| chr3:130525368
|
T | C | 11 | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(8): Show | 11 | HG01169.hp2 HG03834.hp1 NA18952.hp1 others(8): Show |
intron_variant | MODIFIER | c.-32+7971T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525368 | ||||||
| chr3:130525634
|
A | G | 9 | a0004c0026t0004g0208a0004c0029t0002g0036a0005c0003t0002g0098others(6): Show | 9 | HG00597.hp2 HG00621.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.-32+8237A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525634 | ||||||
| chr3:130525772
|
G | A | 1 | a0005c0003t0008g0184 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-32+8375G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525772 | ||||||
| chr3:130525828
|
A | G | 3 | a0003c0023t0003g0022a0004c0026t0001g0023a0021c0030t0004g0103 | 3 | HG02809.hp2 HG03041.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-32+8431A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525828 | ||||||
| chr3:130525891
|
C | T | 31 | a0001c0001t0001g0011a0001c0001t0001g0188a0002c0002t0001g0013others(28): Show | 32 | HG00280.hp1 HG00558.hp2 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.-32+8494C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130525891 | ||||||
| chr3:130525996
|
AT | A | 167 | a0001c0001t0001g0011a0001c0001t0001g0121a0001c0001t0001g0133others(164): Show | 167 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(164): Show |
intron_variant | MODIFIER | c.-32+8608delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130525996 | |||||
| chr3:130526148
|
A | G | 3 | a0002c0002t0003g0149a0002c0002t0003g0171a0005c0003t0001g0005 | 3 | HG01069.hp2 HG01071.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.-32+8751A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526148 | ||||||
| chr3:130526250
|
G | A | 8 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253others(5): Show | 9 | HG03490.hp2 HG03492.hp2 NA18952.hp1 others(6): Show |
intron_variant | MODIFIER | c.-32+8853G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526250 | ||||||
| chr3:130526275
|
C | T | 1 | a0001c0001t0002g0111 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-32+8878C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526275 | ||||||
| chr3:130526356
|
G | A | 2 | a0007c0040t0004g0234a0007c0040t0004g0235 | 2 | HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-32+8959G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526356 | ||||||
| chr3:130526395
|
G | A | 39 | a0001c0001t0001g0121a0001c0001t0004g0207a0002c0002t0003g0149others(36): Show | 39 | HG00738.hp2 HG01167.hp1 HG01167.hp2 others(36): Show |
intron_variant | MODIFIER | c.-32+8998G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526395 | ||||||
| chr3:130526550
|
T | C | 10 | a0002c0002t0005g0100a0003c0010t0009g0251a0003c0010t0009g0252others(7): Show | 10 | HG03942.hp2 NA18952.hp1 NA18971.hp1 others(7): Show |
intron_variant | MODIFIER | c.-32+9153T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526550 | ||||||
| chr3:130526608
|
G | T | 2 | a0001c0001t0002g0110a0012c0009t0003g0170 | 2 | HG04199.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.-32+9211G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526608 | ||||||
| chr3:130526806
|
C | T | 1 | a0024c0031t0012g0025 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-32+9409C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526806 | ||||||
| chr3:130526813
|
T | TA | 76 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0001g0124others(73): Show | 77 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.-32+9427dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130526813 | |||||
| chr3:130526814
|
A | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-32+9417A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526814 | ||||||
| chr3:130526923
|
C | T | 12 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0084t0002g0083others(9): Show | 13 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(10): Show |
intron_variant | MODIFIER | c.-32+9526C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526923 | ||||||
| chr3:130526946
|
G | A | 11 | a0003c0010t0001g0181a0008c0006t0003g0180a0008c0006t0004g0230others(8): Show | 11 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.-32+9549G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130526946 | ||||||
| chr3:130527010
|
C | CCT | 141 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(138): Show | 141 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.-32+9615_-32+9616d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527010 | |||||
| chr3:130527065
|
T | G | 2 | a0002c0002t0003g0158a0002c0002t0003g0171 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-32+9668T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130527065 | ||||||
| chr3:130527595
|
C | G | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+10198C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130527595 | ||||||
| chr3:130527658
|
T | C | 150 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(147): Show | 151 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.-32+10261T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130527658 | ||||||
| chr3:130527856
|
GT | G | 13 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(10): Show | 14 | HG02280.hp2 HG02486.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+10462delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527856 | |||||
| chr3:130527890
|
C | CT | 5 | a0002c0002t0002g0084a0003c0013t0005g0045a0005c0003t0006g0088others(2): Show | 5 | HG00558.hp1 HG02145.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+10518dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527890
|
CT | C | 12 | a0001c0001t0001g0146a0001c0001t0001g0195a0002c0002t0001g0124others(9): Show | 12 | HG00408.hp1 HG01070.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.-32+10518delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527890
|
CTT | C | 118 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(115): Show | 119 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(116): Show |
intron_variant | MODIFIER | c.-32+10517_-32+1051 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527890
|
CTTT | C | 28 | a0003c0027t0004g0213a0003c0027t0004g0214a0007c0017t0006g0078others(25): Show | 29 | HG01884.hp2 HG02055.hp2 HG02074.hp1 others(26): Show |
intron_variant | MODIFIER | c.-32+10516_-32+1051 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527890
|
CTTTTTTT | C | 37 | a0003c0010t0001g0181a0003c0010t0003g0006a0003c0010t0003g0007others(34): Show | 37 | HG00597.hp2 HG00621.hp1 HG00738.hp2 others(34): Show |
intron_variant | MODIFIER | c.-32+10512_-32+1051 others(11): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527890
|
CTTTTTTT others(4): Show |
C | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-32+10508_-32+1051 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130527890 | |||||
| chr3:130527919
|
T | G | 1 | a0005c0003t0001g0157 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-32+10522T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130527919 | ||||||
| chr3:130528205
|
G | A | 1 | a0012c0009t0003g0159 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-32+10808G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528205 | ||||||
| chr3:130528211
|
T | C | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-32+10814T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528211 | ||||||
| chr3:130528242
|
G | T | 1 | a0006c0007t0001g0123 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-32+10845G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528242 | ||||||
| chr3:130528300
|
A | T | 12 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0084t0002g0083others(9): Show | 13 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(10): Show |
intron_variant | MODIFIER | c.-32+10903A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528300 | ||||||
| chr3:130528305
|
T | C | 166 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(163): Show | 167 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(164): Show |
intron_variant | MODIFIER | c.-32+10908T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528305 | ||||||
| chr3:130528440
|
A | C | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-32+11043A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528440 | ||||||
| chr3:130528502
|
C | T | 15 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(12): Show | 15 | HG01243.hp1 HG01255.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.-32+11105C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528502 | ||||||
| chr3:130528504
|
G | C | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-32+11107G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528504 | ||||||
| chr3:130528516
|
A | G | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-32+11119A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528516 | ||||||
| chr3:130528828
|
C | A | 18 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(15): Show | 19 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(16): Show |
intron_variant | MODIFIER | c.-32+11431C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528828 | ||||||
| chr3:130528888
|
G | A | 1 | a0004c0022t0010g0249 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-32+11491G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528888 | ||||||
| chr3:130528895
|
T | A | 6 | a0002c0002t0005g0100a0012c0009t0005g0054a0012c0009t0005g0104others(3): Show | 6 | HG00408.hp2 HG03017.hp2 HG03491.hp2 others(3): Show |
intron_variant | MODIFIER | c.-32+11498T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528895 | ||||||
| chr3:130528908
|
G | A | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-32+11511G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528908 | ||||||
| chr3:130528921
|
C | G | 178 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(175): Show | 180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.-32+11524C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528921 | ||||||
| chr3:130528948
|
C | G | 7 | a0003c0023t0003g0022a0003c0060t0001g0150a0004c0004t0002g0026others(4): Show | 7 | HG02280.hp2 HG02559.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+11551C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130528948 | ||||||
| chr3:130529040
|
A | C | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+11643A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529040 | ||||||
| chr3:130529050
|
G | A | 1 | a0043c0046t0003g0024 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-32+11653G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529050 | ||||||
| chr3:130529117
|
T | C | 5 | a0006c0063t0023g0168a0008c0006t0001g0032a0018c0033t0001g0193others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+11720T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529117 | ||||||
| chr3:130529208
|
A | G | 1 | a0007c0032t0003g0129 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-32+11811A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529208 | ||||||
| chr3:130529246
|
A | G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+11849A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529246 | ||||||
| chr3:130529287
|
T | TA | 20 | a0002c0002t0007g0201a0003c0013t0003g0262a0004c0004t0003g0119others(17): Show | 20 | HG00408.hp1 HG00621.hp2 HG00673.hp2 others(17): Show |
intron_variant | MODIFIER | c.-32+11909dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130529287 | |||||
| chr3:130529287
|
TA | T | 56 | a0001c0001t0001g0121a0001c0001t0001g0183a0001c0001t0004g0207others(53): Show | 58 | HG00597.hp1 HG00738.hp2 HG01167.hp2 others(55): Show |
intron_variant | MODIFIER | c.-32+11909delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130529287 | |||||
| chr3:130529287
|
TAA | T | 14 | a0003c0010t0001g0181a0003c0023t0003g0022a0003c0027t0004g0213others(11): Show | 14 | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+11908_-32+1190 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130529287 | |||||
| chr3:130529369
|
G | A | 2 | a0005c0003t0001g0151a0005c0003t0001g0152 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-32+11972G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529369 | ||||||
| chr3:130529453
|
G | A | 2 | a0002c0002t0004g0202a0002c0002t0007g0201 | 2 | HG02615.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-32+12056G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529453 | ||||||
| chr3:130529669
|
C | A | 164 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(161): Show | 165 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.-32+12272C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529669 | ||||||
| chr3:130529728
|
T | A | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-32+12331T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529728 | ||||||
| chr3:130529814
|
A | G | 25 | a0003c0010t0001g0181a0007c0017t0001g0009a0008c0006t0003g0122others(22): Show | 25 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.-32+12417A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130529814 | ||||||
| chr3:130530076
|
G | A | 1 | a0002c0002t0003g0186 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-32+12679G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530076 | ||||||
| chr3:130530091
|
C | T | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-32+12694C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530091 | ||||||
| chr3:130530191
|
C | T | 163 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(160): Show | 164 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.-32+12794C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530191 | ||||||
| chr3:130530246
|
C | A | 163 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(160): Show | 164 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.-32+12849C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530246 | ||||||
| chr3:130530346
|
T | G | 1 | a0046c0054t0002g0055 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-32+12949T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530346 | ||||||
| chr3:130530349
|
C | T | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+12952C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530349 | ||||||
| chr3:130530391
|
G | A | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(101): Show |
intron_variant | MODIFIER | c.-32+12994G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530391 | ||||||
| chr3:130530421
|
C | A | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+13024C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530421 | ||||||
| chr3:130530549
|
C | T | 1 | a0003c0023t0003g0022 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-32+13152C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530549 | ||||||
| chr3:130530740
|
A | G | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-32+13343A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530740 | ||||||
| chr3:130530884
|
T | C | 158 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(155): Show | 159 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.-32+13487T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530884 | ||||||
| chr3:130530910
|
T | C | 6 | a0001c0001t0002g0056a0009c0005t0006g0057a0009c0005t0006g0058others(3): Show | 6 | HG00597.hp1 HG02015.hp1 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+13513T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530910 | ||||||
| chr3:130530919
|
T | C | 177 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(174): Show | 179 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(176): Show |
intron_variant | MODIFIER | c.-32+13522T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530919 | ||||||
| chr3:130530944
|
T | C | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+13547T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130530944 | ||||||
| chr3:130531015
|
T | TAC | 4 | a0005c0003t0002g0098a0011c0008t0001g0125a0011c0008t0001g0126others(1): Show | 4 | HG00642.hp1 HG01192.hp1 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.-32+13640_-32+1364 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531015 | |||||
| chr3:130531015
|
TAC | T | 111 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0133others(108): Show | 111 | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(108): Show |
intron_variant | MODIFIER | c.-32+13640_-32+1364 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531015 | |||||
| chr3:130531015
|
TACACACA others(13): Show |
T | 13 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(10): Show | 14 | HG02280.hp2 HG02486.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+13622_-32+1364 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531015 | |||||
| chr3:130531015
|
TACACACA others(19): Show |
T | 4 | a0007c0018t0003g0015a0010c0016t0001g0113a0011c0008t0001g0131others(1): Show | 4 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.-32+13638_-32+1366 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531015 | |||||
| chr3:130531025
|
CACACACA others(7): Show |
C | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-32+13642_-32+1365 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531025 | |||||
| chr3:130531031
|
CACACACA others(1): Show |
C | 4 | a0001c0001t0001g0121a0001c0001t0001g0183a0009c0005t0004g0223others(1): Show | 4 | HG00597.hp1 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+13642_-32+1364 others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531031 | |||||
| chr3:130531033
|
CACACAG | C | 11 | a0002c0002t0003g0149a0006c0063t0023g0168a0007c0032t0003g0128others(8): Show | 12 | HG00735.hp2 HG01167.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.-32+13642_-32+1364 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531033 | |||||
| chr3:130531035
|
C | G | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-32+13638C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531035 | ||||||
| chr3:130531036
|
A | T | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-32+13639A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531036 | ||||||
| chr3:130531036
|
ACAGACAC others(19): Show |
A | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-32+13641_-32+1366 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531036 | |||||
| chr3:130531037
|
C | G | 17 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(14): Show | 17 | HG01243.hp1 HG01255.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.-32+13640C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531037 | ||||||
| chr3:130531037
|
CAGACACA others(17): Show |
C | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-32+13641_-32+1366 others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531037 | ||||||
| chr3:130531039
|
G | C | 17 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(14): Show | 17 | HG01243.hp1 HG01255.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.-32+13642G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531039 | ||||||
| chr3:130531039
|
GACACACA others(21): Show |
G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+13643_-32+1367 others(32): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531039 | ||||||
| chr3:130531043
|
C | G | 11 | a0002c0002t0003g0149a0006c0063t0023g0168a0007c0032t0003g0128others(8): Show | 12 | HG00735.hp2 HG01167.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.-32+13646C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531043 | ||||||
| chr3:130531045
|
C | G | 4 | a0001c0001t0001g0121a0001c0001t0001g0183a0009c0005t0004g0223others(1): Show | 4 | HG00597.hp1 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+13648C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531045 | ||||||
| chr3:130531054
|
A | AGTCTCTC others(3): Show |
2 | a0007c0040t0004g0235a0019c0021t0005g0030 | 2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-32+13657_-32+1365 others(14): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531054 | ||||||
| chr3:130531054
|
A | AGTCTCTC others(7): Show |
3 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244 | 3 | HG01891.hp2 HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-32+13657_-32+1365 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531054 | ||||||
| chr3:130531054
|
A | AGTCTCTC others(9): Show |
1 | a0004c0029t0002g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-32+13657_-32+1365 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531054 | ||||||
| chr3:130531054
|
A | AGTCTCTC others(11): Show |
1 | a0004c0029t0004g0236 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-32+13657_-32+1365 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531054 | ||||||
| chr3:130531054
|
ACACACAG others(1): Show |
A | 4 | a0002c0002t0002g0074a0002c0002t0004g0202a0002c0002t0007g0201others(1): Show | 4 | HG00639.hp1 HG02615.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-32+13659_-32+1366 others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531054 | |||||
| chr3:130531055
|
C | G | 88 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0133others(85): Show | 88 | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.-32+13658C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531055 | ||||||
| chr3:130531056
|
A | AGTCTCTC others(19): Show |
1 | a0021c0030t0004g0103 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-32+13659_-32+1366 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531056 | ||||||
| chr3:130531056
|
A | AGTCTCTC others(21): Show |
1 | a0021c0030t0001g0156 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-32+13659_-32+1366 others(32): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531056 | ||||||
| chr3:130531056
|
A | T | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0133others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.-32+13659A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531056 | ||||||
| chr3:130531057
|
C | G | 8 | a0002c0051t0007g0238a0007c0017t0006g0078a0007c0081t0013g0080others(5): Show | 8 | HG01496.hp2 NA18979.hp1 NA18983.hp2 others(5): Show |
intron_variant | MODIFIER | c.-32+13660C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531057 | ||||||
| chr3:130531057
|
CACAG | C | 84 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0133others(81): Show | 84 | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.-32+13661_-32+1366 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531057 | ||||||
| chr3:130531058
|
A | T | 23 | a0001c0001t0001g0146a0002c0051t0007g0238a0003c0071t0004g0200others(20): Show | 23 | HG00738.hp1 HG01243.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.-32+13661A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531058 | ||||||
| chr3:130531059
|
C | G | 2 | a0006c0007t0007g0092a0006c0007t0007g0093 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-32+13662C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531059 | ||||||
| chr3:130531059
|
CAG | C | 4 | a0001c0001t0001g0146a0002c0051t0007g0238a0012c0009t0003g0159others(1): Show | 4 | HG00738.hp1 HG01496.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.-32+13663_-32+1366 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531059 | ||||||
| chr3:130531060
|
A | T | 21 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(18): Show | 21 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(18): Show |
intron_variant | MODIFIER | c.-32+13663A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531060 | ||||||
| chr3:130531061
|
G | C | 23 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(20): Show | 23 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(20): Show |
intron_variant | MODIFIER | c.-32+13664G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531061 | ||||||
| chr3:130531061
|
G | GTC | 15 | a0001c0001t0001g0121a0001c0001t0001g0183a0005c0003t0001g0151others(12): Show | 15 | HG00280.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
intron_variant | MODIFIER | c.-32+13692_-32+1369 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
G | GTCTC | 3 | a0010c0038t0002g0077a0015c0037t0008g0169a0023c0039t0026g0112 | 3 | HG02074.hp1 HG02080.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.-32+13690_-32+1369 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
G | GTCTCTCT others(9): Show |
1 | a0035c0058t0004g0240 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-32+13678_-32+1369 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
G | GTCTCTCT others(11): Show |
1 | a0019c0021t0003g0198 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-32+13676_-32+1369 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
GTC | G | 29 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0001g0124others(26): Show | 30 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.-32+13692_-32+1369 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
GTCTC | G | 6 | a0002c0002t0003g0149a0004c0076t0002g0053a0005c0003t0008g0184others(3): Show | 6 | HG01167.hp2 HG02080.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.-32+13690_-32+1369 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531061
|
GTCTCTC | G | 22 | a0003c0010t0001g0181a0006c0063t0023g0168a0008c0006t0001g0032others(19): Show | 22 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.-32+13688_-32+1369 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531061 | |||||
| chr3:130531062
|
T | A | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-32+13665T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531062 | ||||||
| chr3:130531063
|
C | G | 5 | a0002c0002t0002g0074a0002c0002t0004g0202a0002c0002t0007g0201others(2): Show | 5 | HG00639.hp1 HG02615.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+13666C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531063 | ||||||
| chr3:130531064
|
T | A | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-32+13667T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531064 | ||||||
| chr3:130531066
|
T | A | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-32+13669T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531066 | ||||||
| chr3:130531067
|
C | G | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-32+13670C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531067 | ||||||
| chr3:130531132
|
C | T | 2 | a0009c0005t0011g0094a0012c0009t0003g0147 | 2 | HG02683.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.-32+13735C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531132 | ||||||
| chr3:130531162
|
T | C | 1 | a0013c0012t0001g0115 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-32+13765T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531162 | ||||||
| chr3:130531165
|
G | A | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+13768G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531165 | ||||||
| chr3:130531296
|
TACTA | T | 27 | a0003c0010t0001g0181a0006c0063t0023g0168a0007c0017t0001g0009others(24): Show | 27 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.-32+13902_-32+1390 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130531296 | |||||
| chr3:130531658
|
T | A | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-32+14261T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531658 | ||||||
| chr3:130531777
|
G | A | 3 | a0001c0056t0002g0059a0002c0002t0002g0074a0002c0002t0002g0075 | 3 | HG00609.hp1 NA18977.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-32+14380G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130531777 | ||||||
| chr3:130532229
|
T | C | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-32+14832T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532229 | ||||||
| chr3:130532496
|
C | T | 2 | a0017c0019t0003g0127a0017c0019t0009g0258 | 2 | HG01361.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.-32+15099C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532496 | ||||||
| chr3:130532504
|
C | T | 2 | a0002c0002t0004g0202a0002c0002t0007g0201 | 2 | HG02615.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-32+15107C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532504 | ||||||
| chr3:130532582
|
C | CATCT | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-32+15186_-32+1518 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130532582 | |||||
| chr3:130532610
|
A | G | 109 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(106): Show | 109 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(106): Show |
intron_variant | MODIFIER | c.-32+15213A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532610 | ||||||
| chr3:130532645
|
G | A | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-32+15248G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532645 | ||||||
| chr3:130532950
|
C | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+15553C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532950 | ||||||
| chr3:130532988
|
C | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-32+15591C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130532988 | ||||||
| chr3:130533131
|
C | T | 13 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(10): Show | 13 | HG00735.hp2 HG01243.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.-32+15734C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533131 | ||||||
| chr3:130533170
|
C | A | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+15773C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533170 | ||||||
| chr3:130533253
|
T | TA | 33 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(30): Show | 34 | HG00621.hp1 HG00735.hp2 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.-32+15875dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533253 | |||||
| chr3:130533253
|
T | TAA | 19 | a0003c0010t0001g0181a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 19 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.-32+15874_-32+1587 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533253 | |||||
| chr3:130533253
|
T | TAAA | 19 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(16): Show | 20 | HG02109.hp1 HG02257.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.-32+15873_-32+1587 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533253 | |||||
| chr3:130533253
|
TA | T | 5 | a0005c0003t0001g0005a0005c0003t0006g0174a0006c0007t0005g0052others(2): Show | 5 | HG00558.hp2 HG01069.hp2 HG01943.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+15875delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533253 | |||||
| chr3:130533253
|
TAA | T | 100 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(97): Show | 100 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(97): Show |
intron_variant | MODIFIER | c.-32+15874_-32+1587 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533253 | |||||
| chr3:130533280
|
C | T | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+15883C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533280 | ||||||
| chr3:130533318
|
A | G | 1 | a0009c0055t0001g0176 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-32+15921A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533318 | ||||||
| chr3:130533457
|
T | G | 1 | a0002c0002t0004g0219 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-32+16060T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533457 | ||||||
| chr3:130533566
|
T | C | 108 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(105): Show | 108 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(105): Show |
intron_variant | MODIFIER | c.-32+16169T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533566 | ||||||
| chr3:130533567
|
T | TA | 7 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(4): Show | 7 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+16177dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130533567 | |||||
| chr3:130533568
|
A | T | 3 | a0003c0023t0003g0022a0004c0026t0001g0023a0004c0026t0004g0208 | 3 | HG02809.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-32+16171A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533568 | ||||||
| chr3:130533723
|
A | G | 30 | a0003c0010t0001g0181a0006c0063t0023g0168a0007c0017t0001g0009others(27): Show | 30 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-32+16326A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533723 | ||||||
| chr3:130533895
|
G | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+16498G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533895 | ||||||
| chr3:130533927
|
G | A | 3 | a0004c0004t0002g0026a0020c0025t0002g0027a0020c0025t0002g0028 | 3 | HG02559.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-32+16530G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533927 | ||||||
| chr3:130533983
|
G | A | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+16586G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130533983 | ||||||
| chr3:130534067
|
G | A | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-32+16670G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534067 | ||||||
| chr3:130534204
|
G | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+16807G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534204 | ||||||
| chr3:130534211
|
TA | T | 30 | a0003c0010t0001g0181a0006c0063t0023g0168a0007c0017t0001g0009others(27): Show | 30 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-32+16816delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130534211 | |||||
| chr3:130534235
|
C | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-32+16838C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534235 | ||||||
| chr3:130534303
|
A | G | 28 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(25): Show | 29 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(26): Show |
intron_variant | MODIFIER | c.-32+16906A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534303 | ||||||
| chr3:130534341
|
G | T | 5 | a0007c0032t0003g0128a0007c0032t0003g0129a0007c0040t0004g0234others(2): Show | 5 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.-32+16944G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534341 | ||||||
| chr3:130534367
|
T | C | 117 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(114): Show | 117 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(114): Show |
intron_variant | MODIFIER | c.-32+16970T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534367 | ||||||
| chr3:130534385
|
A | G | 1 | a0004c0004t0001g0172 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.-32+16988A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534385 | ||||||
| chr3:130534500
|
T | C | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-32+17103T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534500 | ||||||
| chr3:130534509
|
A | G | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17112A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534509 | ||||||
| chr3:130534556
|
A | G | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-32+17159A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534556 | ||||||
| chr3:130534596
|
G | A | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17199G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534596 | ||||||
| chr3:130534645
|
G | A | 7 | a0003c0023t0003g0022a0003c0060t0001g0150a0004c0004t0002g0026others(4): Show | 7 | HG02280.hp2 HG02559.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+17248G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534645 | ||||||
| chr3:130534764
|
T | C | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+17367T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534764 | ||||||
| chr3:130534820
|
C | T | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-32+17423C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534820 | ||||||
| chr3:130534944
|
G | GTC | 49 | a0003c0010t0001g0181a0006c0063t0023g0168a0007c0017t0001g0009others(46): Show | 50 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(47): Show |
intron_variant | MODIFIER | c.-32+17549_-32+1755 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130534944 | |||||
| chr3:130534960
|
T | C | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.-32+17563T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130534960 | ||||||
| chr3:130535114
|
T | C | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-32+17717T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535114 | ||||||
| chr3:130535127
|
TC | T | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17735delC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130535127 | |||||
| chr3:130535155
|
G | A | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17758G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535155 | ||||||
| chr3:130535156
|
T | C | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17759T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535156 | ||||||
| chr3:130535363
|
C | G | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.-32+17966C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535363 | ||||||
| chr3:130535407
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+18010G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535407 | ||||||
| chr3:130535447
|
G | GT | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+18055dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130535447 | |||||
| chr3:130535623
|
C | G | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-32+18226C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535623 | ||||||
| chr3:130535648
|
A | G | 158 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(155): Show | 159 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.-32+18251A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535648 | ||||||
| chr3:130535667
|
T | G | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+18270T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535667 | ||||||
| chr3:130535781
|
C | T | 144 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(141): Show | 144 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(141): Show |
intron_variant | MODIFIER | c.-32+18384C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535781 | ||||||
| chr3:130535790
|
A | T | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-32+18393A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535790 | ||||||
| chr3:130535795
|
T | G | 1 | a0022c0024t0018g0097 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-32+18398T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535795 | ||||||
| chr3:130535839
|
T | G | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+18442T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130535839 | ||||||
| chr3:130536445
|
C | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-32+19048C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536445 | ||||||
| chr3:130536459
|
C | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+19062C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536459 | ||||||
| chr3:130536486
|
C | T | 144 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(141): Show | 144 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(141): Show |
intron_variant | MODIFIER | c.-32+19089C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536486 | ||||||
| chr3:130536535
|
T | C | 30 | a0003c0010t0001g0181a0006c0063t0023g0168a0007c0017t0001g0009others(27): Show | 30 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-32+19138T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536535 | ||||||
| chr3:130536627
|
T | C | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+19230T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536627 | ||||||
| chr3:130536639
|
T | C | 165 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(162): Show | 166 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(163): Show |
intron_variant | MODIFIER | c.-32+19242T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536639 | ||||||
| chr3:130536750
|
G | T | 1 | a0030c0043t0003g0143 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-32+19353G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536750 | ||||||
| chr3:130536854
|
C | A | 178 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(175): Show | 180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.-32+19457C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536854 | ||||||
| chr3:130536878
|
T | C | 1 | a0001c0001t0001g0133 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-32+19481T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536878 | ||||||
| chr3:130536995
|
G | A | 144 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(141): Show | 144 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(141): Show |
intron_variant | MODIFIER | c.-32+19598G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536995 | ||||||
| chr3:130536999
|
C | G | 3 | a0008c0006t0004g0241a0008c0006t0004g0242a0008c0006t0004g0243 | 3 | HG00738.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-32+19602C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130536999 | ||||||
| chr3:130537022
|
T | A | 144 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(141): Show | 144 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(141): Show |
intron_variant | MODIFIER | c.-32+19625T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537022 | ||||||
| chr3:130537103
|
C | T | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-32+19706C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537103 | ||||||
| chr3:130537129
|
T | G | 2 | a0004c0004t0009g0247a0004c0004t0010g0248 | 2 | NA18995.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.-32+19732T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537129 | ||||||
| chr3:130537306
|
G | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-32+19909G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537306 | ||||||
| chr3:130537391
|
G | T | 29 | a0003c0010t0001g0181a0003c0071t0004g0200a0004c0029t0002g0036others(26): Show | 29 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.-32+19994G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537391 | ||||||
| chr3:130537817
|
G | A | 6 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0002g0041others(3): Show | 6 | HG00558.hp1 HG00609.hp2 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.-32+20420G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537817 | ||||||
| chr3:130537995
|
A | G | 115 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(112): Show | 115 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.-32+20598A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537995 | ||||||
| chr3:130537998
|
G | A | 151 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(148): Show | 152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.-32+20601G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130537998 | ||||||
| chr3:130538278
|
G | A | 1 | a0002c0002t0003g0134 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-32+20881G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538278 | ||||||
| chr3:130538422
|
G | A | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-32+21025G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538422 | ||||||
| chr3:130538752
|
G | C | 163 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(160): Show | 164 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.-32+21355G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538752 | ||||||
| chr3:130538760
|
T | C | 116 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(113): Show | 116 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.-32+21363T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538760 | ||||||
| chr3:130538767
|
G | C | 13 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0083t0005g0048others(10): Show | 14 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+21370G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538767 | ||||||
| chr3:130538770
|
A | G | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-32+21373A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538770 | ||||||
| chr3:130538773
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-32+21376T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538773 | ||||||
| chr3:130538794
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-32+21397G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538794 | ||||||
| chr3:130538966
|
A | T | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.-31-21368A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538966 | ||||||
| chr3:130538990
|
G | C | 48 | a0003c0010t0001g0181a0003c0071t0004g0200a0004c0029t0002g0036others(45): Show | 49 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(46): Show |
intron_variant | MODIFIER | c.-31-21344G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130538990 | ||||||
| chr3:130539319
|
C | G | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-31-21015C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539319 | ||||||
| chr3:130539528
|
G | C | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-31-20806G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539528 | ||||||
| chr3:130539529
|
G | C | 48 | a0003c0010t0001g0181a0003c0071t0004g0200a0004c0029t0002g0036others(45): Show | 49 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(46): Show |
intron_variant | MODIFIER | c.-31-20805G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539529 | ||||||
| chr3:130539551
|
G | A | 4 | a0003c0023t0007g0211a0003c0061t0015g0196a0003c0070t0002g0035others(1): Show | 5 | HG02486.hp2 HG02970.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-20783G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539551 | ||||||
| chr3:130539558
|
C | T | 51 | a0002c0002t0001g0124a0003c0010t0003g0006a0003c0010t0003g0007others(48): Show | 51 | HG00280.hp1 HG00597.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.-31-20776C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539558 | ||||||
| chr3:130539583
|
A | T | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-20751A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539583 | ||||||
| chr3:130539590
|
G | T | 115 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(112): Show | 115 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.-31-20744G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539590 | ||||||
| chr3:130539632
|
C | CA | 19 | a0003c0062t0004g0216a0007c0017t0004g0210a0007c0018t0007g0245others(16): Show | 19 | HG00408.hp2 HG01109.hp2 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.-31-20687dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130539632 | |||||
| chr3:130539632
|
C | CAA | 84 | a0001c0001t0001g0011a0001c0001t0001g0121a0001c0001t0001g0133others(81): Show | 84 | HG00280.hp2 HG00597.hp1 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.-31-20688_-31-2068 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130539632 | |||||
| chr3:130539632
|
C | CAAA | 7 | a0001c0001t0001g0114a0001c0001t0001g0135a0012c0009t0003g0136others(4): Show | 7 | HG00735.hp2 HG02074.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.-31-20689_-31-2068 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130539632 | |||||
| chr3:130539632
|
C | CAAAA | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-20690_-31-2068 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130539632 | |||||
| chr3:130539648
|
T | A | 116 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(113): Show | 116 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.-31-20686T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539648 | ||||||
| chr3:130539700
|
A | G | 48 | a0003c0010t0001g0181a0003c0071t0004g0200a0004c0029t0002g0036others(45): Show | 49 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(46): Show |
intron_variant | MODIFIER | c.-31-20634A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539700 | ||||||
| chr3:130539702
|
G | A | 114 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(111): Show | 114 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(111): Show |
intron_variant | MODIFIER | c.-31-20632G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539702 | ||||||
| chr3:130539789
|
A | C | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-20545A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539789 | ||||||
| chr3:130539833
|
G | T | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.-31-20501G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539833 | ||||||
| chr3:130539853
|
G | C | 3 | a0022c0024t0005g0037a0022c0024t0018g0097a0031c0044t0002g0096 | 3 | HG00597.hp2 HG00621.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.-31-20481G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539853 | ||||||
| chr3:130539923
|
T | C | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-31-20411T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130539923 | ||||||
| chr3:130540270
|
C | G | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-20064C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540270 | ||||||
| chr3:130540330
|
C | T | 164 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(161): Show | 165 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.-31-20004C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540330 | ||||||
| chr3:130540465
|
T | TAC | 150 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(147): Show | 151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.-31-19867_-31-1986 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130540465 | |||||
| chr3:130540465
|
T | TACAC | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-31-19866_-31-1986 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130540465 | |||||
| chr3:130540518
|
C | T | 164 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(161): Show | 165 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.-31-19816C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540518 | ||||||
| chr3:130540683
|
T | C | 11 | a0004c0076t0002g0053a0007c0017t0004g0210a0007c0018t0003g0015others(8): Show | 11 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(8): Show |
intron_variant | MODIFIER | c.-31-19651T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540683 | ||||||
| chr3:130540735
|
C | T | 3 | a0001c0001t0001g0183a0001c0001t0004g0207a0001c0001t0021g0019 | 3 | HG01884.hp1 HG02922.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-31-19599C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540735 | ||||||
| chr3:130540977
|
A | G | 163 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(160): Show | 164 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.-31-19357A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540977 | ||||||
| chr3:130540997
|
T | C | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-31-19337T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130540997 | ||||||
| chr3:130541131
|
C | T | 2 | a0007c0018t0007g0245a0010c0016t0004g0209 | 2 | HG02717.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-31-19203C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541131 | ||||||
| chr3:130541193
|
A | C | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-19141A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541193 | ||||||
| chr3:130541269
|
G | A | 2 | a0004c0004t0001g0172a0039c0064t0005g0085 | 2 | NA18942.hp2 NA18951.hp1 |
intron_variant | MODIFIER | c.-31-19065G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541269 | ||||||
| chr3:130541530
|
T | A | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-31-18804T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541530 | ||||||
| chr3:130541567
|
G | A | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.-31-18767G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541567 | ||||||
| chr3:130541663
|
T | C | 7 | a0008c0006t0001g0032a0018c0033t0001g0193a0018c0033t0025g0192others(4): Show | 7 | HG00735.hp2 HG02109.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-18671T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541663 | ||||||
| chr3:130541795
|
A | G | 261 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(258): Show | 263 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(260): Show |
intron_variant | MODIFIER | c.-31-18539A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541795 | ||||||
| chr3:130541866
|
T | C | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-18468T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541866 | ||||||
| chr3:130541992
|
G | A | 140 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(137): Show | 141 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(138): Show |
intron_variant | MODIFIER | c.-31-18342G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130541992 | ||||||
| chr3:130542027
|
T | G | 140 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(137): Show | 141 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(138): Show |
intron_variant | MODIFIER | c.-31-18307T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542027 | ||||||
| chr3:130542072
|
G | T | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-31-18262G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542072 | ||||||
| chr3:130542131
|
A | AT | 30 | a0003c0010t0001g0181a0004c0029t0002g0036a0007c0017t0001g0009others(27): Show | 30 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-31-18193dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542131 | |||||
| chr3:130542190
|
C | T | 146 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(143): Show | 147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
intron_variant | MODIFIER | c.-31-18144C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542190 | ||||||
| chr3:130542210
|
G | A | 7 | a0007c0032t0003g0128a0007c0032t0003g0129a0007c0040t0004g0234others(4): Show | 8 | HG02055.hp2 HG03225.hp1 HG03486.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-18124G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542210 | ||||||
| chr3:130542386
|
C | T | 1 | a0017c0019t0009g0258 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-31-17948C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542386 | ||||||
| chr3:130542575
|
C | T | 147 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(144): Show | 148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.-31-17759C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542575 | ||||||
| chr3:130542755
|
A | C | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-17579A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542755 | ||||||
| chr3:130542898
|
C | CT | 6 | a0004c0004t0001g0172a0004c0004t0009g0254a0005c0003t0003g0014others(3): Show | 6 | HG00280.hp1 HG02257.hp1 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.-31-17410dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542898
|
C | CTTTTTTT others(6): Show |
1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-31-17422_-31-1741 others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542898
|
CT | C | 22 | a0003c0013t0005g0045a0003c0023t0007g0211a0003c0027t0004g0213others(19): Show | 23 | HG00558.hp2 HG01257.hp1 HG01943.hp1 others(20): Show |
intron_variant | MODIFIER | c.-31-17410delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542898
|
CTTTTT | C | 13 | a0001c0001t0001g0142a0002c0002t0003g0134a0003c0071t0004g0200others(10): Show | 13 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.-31-17414_-31-1741 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542898
|
CTTTTTT | C | 123 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(120): Show | 124 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(121): Show |
intron_variant | MODIFIER | c.-31-17415_-31-1741 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542898
|
CTTTTTTT | C | 22 | a0001c0001t0002g0111a0003c0010t0001g0181a0003c0010t0009g0251others(19): Show | 22 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.-31-17416_-31-1741 others(11): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130542898 | |||||
| chr3:130542975
|
G | A | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-31-17359G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130542975 | ||||||
| chr3:130543074
|
T | G | 5 | a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0005g0061others(2): Show | 5 | NA18946.hp1 NA18949.hp2 NA18954.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-17260T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543074 | ||||||
| chr3:130543097
|
G | C | 17 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0001g0124others(14): Show | 17 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(14): Show |
intron_variant | MODIFIER | c.-31-17237G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543097 | ||||||
| chr3:130543197
|
T | C | 178 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(175): Show | 180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.-31-17137T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543197 | ||||||
| chr3:130543199
|
T | C | 162 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(159): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.-31-17135T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543199 | ||||||
| chr3:130543273
|
T | C | 162 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(159): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.-31-17061T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543273 | ||||||
| chr3:130543283
|
G | C | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-17051G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543283 | ||||||
| chr3:130543315
|
G | A | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-31-17019G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543315 | ||||||
| chr3:130543395
|
A | T | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-16939A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543395 | ||||||
| chr3:130543501
|
A | G | 162 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(159): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.-31-16833A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543501 | ||||||
| chr3:130543572
|
C | A | 162 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(159): Show | 163 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
intron_variant | MODIFIER | c.-31-16762C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543572 | ||||||
| chr3:130543657
|
G | A | 1 | a0006c0015t0012g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-31-16677G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543657 | ||||||
| chr3:130543724
|
A | G | 152 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(149): Show | 153 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(150): Show |
intron_variant | MODIFIER | c.-31-16610A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543724 | ||||||
| chr3:130543806
|
TG | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-16527delG | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130543806 | ||||||
| chr3:130544032
|
C | A | 4 | a0003c0010t0003g0006a0003c0010t0003g0007a0004c0004t0002g0047others(1): Show | 4 | NA18964.hp1 NA18977.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.-31-16302C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544032 | ||||||
| chr3:130544083
|
C | T | 14 | a0004c0076t0002g0053a0007c0018t0003g0015a0007c0018t0009g0257others(11): Show | 14 | HG00408.hp1 HG00621.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.-31-16251C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544083 | ||||||
| chr3:130544106
|
T | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-16228T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544106 | ||||||
| chr3:130544112
|
C | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-16222C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544112 | ||||||
| chr3:130544121
|
T | C | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-31-16213T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544121 | ||||||
| chr3:130544217
|
A | G | 14 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(11): Show | 15 | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.-31-16117A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544217 | ||||||
| chr3:130544400
|
G | A | 25 | a0003c0010t0001g0181a0007c0017t0001g0009a0007c0017t0004g0210others(22): Show | 25 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.-31-15934G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544400 | ||||||
| chr3:130544439
|
A | G | 7 | a0008c0006t0001g0032a0018c0033t0001g0193a0018c0033t0025g0192others(4): Show | 7 | HG00735.hp2 HG02109.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-15895A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544439 | ||||||
| chr3:130544516
|
G | A | 1 | a0007c0072t0020g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-31-15818G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544516 | ||||||
| chr3:130544611
|
A | C | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-15723A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544611 | ||||||
| chr3:130544634
|
A | AC | 14 | a0004c0076t0002g0053a0007c0018t0003g0015a0007c0018t0009g0257others(11): Show | 14 | HG00408.hp1 HG00621.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.-31-15698dupC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130544634 | |||||
| chr3:130544646
|
T | C | 14 | a0004c0076t0002g0053a0007c0018t0003g0015a0007c0018t0009g0257others(11): Show | 14 | HG00408.hp1 HG00621.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.-31-15688T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544646 | ||||||
| chr3:130544655
|
CA | C | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-15678delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544655 | ||||||
| chr3:130544850
|
C | T | 1 | a0028c0042t0003g0118 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-31-15484C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130544850 | ||||||
| chr3:130544900
|
G | GT | 7 | a0008c0006t0001g0032a0018c0033t0001g0193a0018c0033t0025g0192others(4): Show | 7 | HG00735.hp2 HG02109.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-15428dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130544900 | |||||
| chr3:130545124
|
A | G | 6 | a0007c0032t0003g0128a0007c0032t0003g0129a0007c0040t0004g0234others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-31-15210A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545124 | ||||||
| chr3:130545190
|
G | A | 164 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(161): Show | 165 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.-31-15144G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545190 | ||||||
| chr3:130545216
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-15118G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545216 | ||||||
| chr3:130545272
|
A | G | 140 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(137): Show | 141 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(138): Show |
intron_variant | MODIFIER | c.-31-15062A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545272 | ||||||
| chr3:130545350
|
T | C | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-14984T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545350 | ||||||
| chr3:130545384
|
G | T | 1 | a0004c0029t0002g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-31-14950G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545384 | ||||||
| chr3:130545385
|
A | T | 1 | a0004c0029t0002g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-31-14949A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545385 | ||||||
| chr3:130545390
|
T | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-14944T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545390 | ||||||
| chr3:130545432
|
C | T | 17 | a0003c0010t0001g0181a0007c0017t0004g0210a0007c0018t0007g0245others(14): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.-31-14902C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545432 | ||||||
| chr3:130545452
|
AT | A | 113 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0001g0124others(110): Show | 115 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(112): Show |
intron_variant | MODIFIER | c.-31-14863delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130545452 | |||||
| chr3:130545452
|
ATT | A | 131 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(128): Show | 131 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.-31-14864_-31-1486 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130545452 | |||||
| chr3:130545539
|
C | T | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-31-14795C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545539 | ||||||
| chr3:130545547
|
G | A | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-14787G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545547 | ||||||
| chr3:130545558
|
A | T | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-14776A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545558 | ||||||
| chr3:130545598
|
T | C | 157 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(154): Show | 158 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.-31-14736T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545598 | ||||||
| chr3:130545621
|
A | T | 164 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(161): Show | 165 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.-31-14713A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545621 | ||||||
| chr3:130545628
|
AT | A | 157 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(154): Show | 158 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.-31-14699delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130545628 | |||||
| chr3:130545697
|
T | G | 2 | a0027c0041t0001g0021a0042c0080t0001g0020 | 2 | NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-31-14637T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545697 | ||||||
| chr3:130545809
|
G | A | 17 | a0004c0076t0002g0053a0007c0017t0001g0009a0008c0006t0001g0032others(14): Show | 17 | HG00735.hp2 HG01255.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.-31-14525G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130545809 | ||||||
| chr3:130546157
|
C | T | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-31-14177C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546157 | ||||||
| chr3:130546167
|
T | C | 1 | a0001c0001t0005g0061 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-31-14167T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546167 | ||||||
| chr3:130546302
|
C | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-14032C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546302 | ||||||
| chr3:130546488
|
A | T | 1 | a0043c0046t0003g0024 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-31-13846A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546488 | ||||||
| chr3:130546535
|
C | T | 2 | a0012c0009t0005g0104a0012c0009t0005g0106 | 2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.-31-13799C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546535 | ||||||
| chr3:130546536
|
G | A | 1 | a0013c0028t0004g0199 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-31-13798G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546536 | ||||||
| chr3:130546562
|
A | C | 2 | a0007c0017t0006g0078a0007c0083t0005g0048 | 2 | NA19007.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-31-13772A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546562 | ||||||
| chr3:130546638
|
G | A | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-13696G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546638 | ||||||
| chr3:130546645
|
G | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-13689G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546645 | ||||||
| chr3:130546714
|
CAG | C | 4 | a0007c0018t0003g0015a0010c0016t0001g0113a0011c0008t0001g0131others(1): Show | 4 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.-31-13617_-31-1361 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130546714 | |||||
| chr3:130546731
|
C | G | 2 | a0004c0022t0001g0010a0038c0065t0002g0203 | 2 | HG03669.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.-31-13603C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546731 | ||||||
| chr3:130546732
|
G | A | 1 | a0003c0062t0004g0216 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-31-13602G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546732 | ||||||
| chr3:130546732
|
GTTTACAA others(34): Show |
G | 5 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113others(2): Show | 5 | HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-13576_-31-1353 others(45): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130546732 | |||||
| chr3:130546879
|
C | T | 1 | a0012c0009t0003g0159 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-31-13455C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130546879 | ||||||
| chr3:130546911
|
G | GAC | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-13421_-31-1342 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130546911 | |||||
| chr3:130547052
|
C | T | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-13282C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547052 | ||||||
| chr3:130547092
|
C | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-13242C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547092 | ||||||
| chr3:130547100
|
C | T | 2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.-31-13234C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547100 | ||||||
| chr3:130547121
|
G | A | 4 | a0001c0001t0001g0121a0001c0001t0001g0183a0001c0001t0004g0207others(1): Show | 4 | HG01884.hp1 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.-31-13213G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547121 | ||||||
| chr3:130547159
|
C | T | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-31-13175C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547159 | ||||||
| chr3:130547170
|
G | A | 31 | a0003c0010t0001g0181a0003c0023t0003g0022a0003c0023t0007g0211others(28): Show | 32 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.-31-13164G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547170 | ||||||
| chr3:130547185
|
C | T | 1 | a0008c0006t0003g0122 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-31-13149C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547185 | ||||||
| chr3:130547192
|
C | T | 1 | a0004c0004t0001g0206 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.-31-13142C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547192 | ||||||
| chr3:130547300
|
C | T | 157 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(154): Show | 158 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.-31-13034C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547300 | ||||||
| chr3:130547301
|
A | G | 157 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(154): Show | 158 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.-31-13033A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547301 | ||||||
| chr3:130547347
|
A | G | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-12987A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547347 | ||||||
| chr3:130547357
|
C | T | 14 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(11): Show | 15 | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.-31-12977C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547357 | ||||||
| chr3:130547358
|
G | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-12976G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547358 | ||||||
| chr3:130547361
|
G | A | 1 | a0010c0014t0001g0018 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-31-12973G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547361 | ||||||
| chr3:130547416
|
C | T | 1 | a0006c0015t0012g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-31-12918C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547416 | ||||||
| chr3:130547436
|
T | C | 3 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244 | 3 | HG01891.hp2 HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-31-12898T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547436 | ||||||
| chr3:130547440
|
T | G | 2 | a0001c0001t0001g0142a0001c0001t0001g0146 | 2 | HG00735.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-31-12894T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547440 | ||||||
| chr3:130547543
|
C | T | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.-31-12791C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547543 | ||||||
| chr3:130547583
|
A | G | 157 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(154): Show | 158 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.-31-12751A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547583 | ||||||
| chr3:130547585
|
G | A | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-12749G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547585 | ||||||
| chr3:130547652
|
G | A | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-31-12682G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547652 | ||||||
| chr3:130547718
|
C | G | 1 | a0017c0019t0003g0127 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-31-12616C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547718 | ||||||
| chr3:130547727
|
T | C | 9 | a0004c0076t0002g0053a0008c0006t0001g0032a0013c0075t0001g0185others(6): Show | 9 | HG00735.hp2 HG02109.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.-31-12607T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547727 | ||||||
| chr3:130547828
|
C | T | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-31-12506C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547828 | ||||||
| chr3:130547844
|
C | G | 1 | a0005c0003t0001g0157 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-31-12490C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547844 | ||||||
| chr3:130547855
|
C | T | 91 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(88): Show | 91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.-31-12479C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547855 | ||||||
| chr3:130547858
|
T | C | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-12476T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547858 | ||||||
| chr3:130547859
|
G | A | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-31-12475G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547859 | ||||||
| chr3:130547981
|
T | C | 140 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(137): Show | 140 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(137): Show |
intron_variant | MODIFIER | c.-31-12353T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547981 | ||||||
| chr3:130547981
|
T | G | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-12353T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130547981 | ||||||
| chr3:130548154
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-12180G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130548154 | ||||||
| chr3:130548254
|
A | G | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-31-12080A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130548254 | ||||||
| chr3:130548409
|
A | G | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-11925A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130548409 | ||||||
| chr3:130548720
|
A | T | 18 | a0004c0076t0002g0053a0007c0017t0001g0009a0008c0006t0001g0032others(15): Show | 18 | HG00735.hp2 HG01255.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.-31-11614A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130548720 | ||||||
| chr3:130549049
|
G | A | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.-31-11285G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549049 | ||||||
| chr3:130549137
|
C | A | 1 | a0007c0017t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-31-11197C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549137 | ||||||
| chr3:130549365
|
T | C | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-31-10969T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549365 | ||||||
| chr3:130549449
|
C | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-10885C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549449 | ||||||
| chr3:130549582
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-10752G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549582 | ||||||
| chr3:130549768
|
A | C | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-31-10566A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549768 | ||||||
| chr3:130549792
|
C | T | 2 | a0007c0018t0003g0015a0010c0016t0001g0113 | 2 | HG00621.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.-31-10542C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130549792 | ||||||
| chr3:130550080
|
A | G | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-10254A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550080 | ||||||
| chr3:130550152
|
A | AT | 5 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244others(2): Show | 5 | HG01891.hp2 HG02559.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-31-10174dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130550152 | |||||
| chr3:130550267
|
A | G | 160 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(157): Show | 161 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(158): Show |
intron_variant | MODIFIER | c.-31-10067A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550267 | ||||||
| chr3:130550272
|
C | T | 1 | a0016c0053t0008g0161 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-31-10062C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550272 | ||||||
| chr3:130550346
|
T | C | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-31-9988T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550346 | ||||||
| chr3:130550375
|
T | C | 6 | a0003c0023t0003g0022a0004c0004t0002g0026a0004c0026t0001g0023others(3): Show | 6 | HG02559.hp1 HG02809.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.-31-9959T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550375 | ||||||
| chr3:130550667
|
T | C | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-31-9667T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550667 | ||||||
| chr3:130550702
|
C | A | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-31-9632C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550702 | ||||||
| chr3:130550737
|
A | G | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-9597A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550737 | ||||||
| chr3:130550854
|
A | C | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-31-9480A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550854 | ||||||
| chr3:130550859
|
T | G | 3 | a0003c0010t0003g0261a0006c0007t0003g0260a0013c0012t0008g0008 | 3 | NA18951.hp2 NA18998.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.-31-9475T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550859 | ||||||
| chr3:130550994
|
T | A | 1 | a0001c0001t0005g0061 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-31-9340T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130550994 | ||||||
| chr3:130551130
|
T | TC | 101 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(98): Show | 101 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.-31-9203dupC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130551130 | |||||
| chr3:130551404
|
A | G | 1 | a0009c0005t0001g0141 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-31-8930A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130551404 | ||||||
| chr3:130551472
|
C | T | 1 | a0009c0005t0006g0072 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-31-8862C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130551472 | ||||||
| chr3:130551473
|
G | A | 8 | a0005c0003t0006g0051a0005c0003t0006g0088a0005c0003t0006g0174others(5): Show | 8 | HG00558.hp2 HG01257.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-8861G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130551473 | ||||||
| chr3:130551631
|
G | GT | 54 | a0001c0001t0001g0135a0001c0001t0002g0056a0003c0010t0001g0181others(51): Show | 56 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(53): Show |
intron_variant | MODIFIER | c.-31-8688dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130551631 | |||||
| chr3:130551631
|
GT | G | 8 | a0006c0007t0001g0191a0008c0006t0001g0032a0017c0019t0009g0258others(5): Show | 8 | HG00735.hp2 HG01361.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.-31-8688delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130551631 | |||||
| chr3:130551729
|
A | G | 1 | a0035c0058t0004g0240 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-31-8605A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130551729 | ||||||
| chr3:130552092
|
G | T | 1 | a0001c0001t0002g0056 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-31-8242G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552092 | ||||||
| chr3:130552183
|
C | T | 2 | a0007c0032t0003g0128a0007c0032t0003g0129 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-31-8151C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552183 | ||||||
| chr3:130552314
|
C | T | 140 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(137): Show | 141 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(138): Show |
intron_variant | MODIFIER | c.-31-8020C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552314 | ||||||
| chr3:130552336
|
C | A | 176 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(173): Show | 178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.-31-7998C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552336 | ||||||
| chr3:130552355
|
G | A | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-31-7979G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552355 | ||||||
| chr3:130552641
|
A | G | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.-31-7693A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552641 | ||||||
| chr3:130552660
|
A | G | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-31-7674A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552660 | ||||||
| chr3:130552685
|
C | T | 2 | a0009c0005t0011g0094a0012c0009t0003g0147 | 2 | HG02683.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.-31-7649C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552685 | ||||||
| chr3:130552804
|
G | A | 3 | a0018c0033t0001g0193a0018c0033t0025g0192a0033c0077t0001g0148 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.-31-7530G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552804 | ||||||
| chr3:130552822
|
CCGT | C | 176 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(173): Show | 178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.-31-7510_-31-7508d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130552822 | |||||
| chr3:130552905
|
A | G | 15 | a0007c0017t0001g0009a0008c0006t0001g0032a0014c0011t0001g0177others(12): Show | 15 | HG00735.hp2 HG01255.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.-31-7429A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130552905 | ||||||
| chr3:130553012
|
T | A | 1 | a0001c0001t0004g0207 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-31-7322T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553012 | ||||||
| chr3:130553025
|
G | A | 3 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113 | 3 | HG00621.hp2 HG03831.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.-31-7309G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553025 | ||||||
| chr3:130553288
|
G | A | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-31-7046G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553288 | ||||||
| chr3:130553323
|
C | A | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-7011C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553323 | ||||||
| chr3:130553636
|
G | GT | 20 | a0001c0001t0001g0133a0001c0001t0001g0142a0001c0001t0001g0146others(17): Show | 20 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.-31-6688dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130553636 | |||||
| chr3:130553684
|
T | C | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.-31-6650T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553684 | ||||||
| chr3:130553828
|
G | A | 9 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253others(6): Show | 9 | NA18952.hp1 NA18971.hp1 NA18982.hp1 others(6): Show |
intron_variant | MODIFIER | c.-31-6506G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553828 | ||||||
| chr3:130553851
|
T | G | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-31-6483T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553851 | ||||||
| chr3:130553851
|
TTTTTGTT others(3): Show |
T | 97 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(94): Show | 97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.-31-6468_-31-6459d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130553851 | |||||
| chr3:130553861
|
G | T | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-6473G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553861 | ||||||
| chr3:130553896
|
C | T | 104 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(101): Show | 104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.-31-6438C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553896 | ||||||
| chr3:130553939
|
G | A | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-6395G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553939 | ||||||
| chr3:130553985
|
T | C | 1 | a0006c0007t0003g0260 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.-31-6349T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553985 | ||||||
| chr3:130553990
|
G | C | 3 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113 | 3 | HG00621.hp2 HG03831.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.-31-6344G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130553990 | ||||||
| chr3:130554113
|
A | T | 176 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(173): Show | 178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.-31-6221A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554113 | ||||||
| chr3:130554170
|
A | T | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-6164A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554170 | ||||||
| chr3:130554228
|
A | G | 95 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(92): Show | 95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.-31-6106A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554228 | ||||||
| chr3:130554407
|
G | A | 13 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0083t0005g0048others(10): Show | 14 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-5927G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554407 | ||||||
| chr3:130554425
|
C | T | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-5909C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554425 | ||||||
| chr3:130554439
|
A | G | 2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.-31-5895A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554439 | ||||||
| chr3:130554561
|
A | G | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-31-5773A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554561 | ||||||
| chr3:130554579
|
G | A | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-31-5755G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554579 | ||||||
| chr3:130554583
|
A | G | 159 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(156): Show | 160 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(157): Show |
intron_variant | MODIFIER | c.-31-5751A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554583 | ||||||
| chr3:130554736
|
A | G | 1 | a0002c0002t0005g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-31-5598A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554736 | ||||||
| chr3:130554791
|
A | G | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-31-5543A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130554791 | ||||||
| chr3:130555411
|
C | G | 1 | a0009c0005t0008g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-31-4923C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130555411 | ||||||
| chr3:130555752
|
G | GT | 13 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0083t0005g0048others(10): Show | 14 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-4574dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | 130555752 | |||||
| chr3:130555752
|
G | T | 3 | a0006c0063t0023g0168a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.-31-4582G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130555752 | ||||||
| chr3:130555863
|
CAACTT | C | 19 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(16): Show | 20 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(17): Show |
intron_variant | MODIFIER | c.-31-4470_-31-4466d others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130555863 | ||||||
| chr3:130555928
|
T | A | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-31-4406T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130555928 | ||||||
| chr3:130556054
|
G | A | 176 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(173): Show | 178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.-31-4280G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556054 | ||||||
| chr3:130556088
|
A | T | 5 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-4246A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556088 | ||||||
| chr3:130556257
|
A | G | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-31-4077A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556257 | ||||||
| chr3:130556264
|
A | G | 2 | a0005c0003t0002g0098a0011c0008t0001g0012 | 2 | HG03688.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-31-4070A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556264 | ||||||
| chr3:130556589
|
C | T | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-3745C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556589 | ||||||
| chr3:130556697
|
A | G | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-31-3637A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556697 | ||||||
| chr3:130556742
|
T | G | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-31-3592T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556742 | ||||||
| chr3:130556828
|
A | G | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-3506A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556828 | ||||||
| chr3:130556872
|
G | A | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-3462G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130556872 | ||||||
| chr3:130557191
|
T | A | 2 | a0001c0001t0001g0133a0001c0001t0002g0087 | 2 | HG00639.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.-31-3143T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557191 | ||||||
| chr3:130557212
|
G | C | 4 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253others(1): Show | 4 | NA18971.hp1 NA18982.hp1 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.-31-3122G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557212 | ||||||
| chr3:130557238
|
A | G | 14 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(11): Show | 15 | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.-31-3096A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557238 | ||||||
| chr3:130557378
|
T | C | 14 | a0003c0010t0001g0181a0008c0006t0003g0122a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-31-2956T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557378 | ||||||
| chr3:130557395
|
A | G | 1 | a0003c0010t0003g0007 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.-31-2939A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557395 | ||||||
| chr3:130557636
|
A | G | 3 | a0007c0017t0004g0210a0007c0018t0007g0245a0010c0016t0004g0209 | 3 | HG02717.hp1 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-31-2698A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557636 | ||||||
| chr3:130557779
|
C | T | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-31-2555C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557779 | ||||||
| chr3:130557780
|
G | A | 1 | a0017c0019t0003g0127 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-31-2554G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557780 | ||||||
| chr3:130557781
|
C | T | 3 | a0007c0018t0003g0015a0007c0018t0009g0257a0010c0016t0001g0113 | 3 | HG00621.hp2 HG03831.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.-31-2553C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130557781 | ||||||
| chr3:130558012
|
A | C | 1 | a0005c0003t0011g0237 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-31-2322A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130558012 | ||||||
| chr3:130558012
|
A | G | 3 | a0007c0040t0004g0234a0007c0040t0004g0235a0010c0086t0001g0155 | 3 | HG03225.hp1 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-31-2322A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130558012 | ||||||
| chr3:130558026
|
G | C | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-31-2308G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130558026 | ||||||
| chr3:130558377
|
C | T | 91 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(88): Show | 91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.-31-1957C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130558377 | ||||||
| chr3:130558819
|
T | G | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-1515T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130558819 | ||||||
| chr3:130559242
|
A | G | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.-31-1092A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559242 | ||||||
| chr3:130559252
|
C | T | 3 | a0007c0017t0006g0078a0007c0083t0005g0048a0010c0038t0002g0077 | 3 | HG02129.hp1 NA19007.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-31-1082C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559252 | ||||||
| chr3:130559261
|
G | A | 174 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(171): Show | 176 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(173): Show |
intron_variant | MODIFIER | c.-31-1073G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559261 | ||||||
| chr3:130559287
|
C | T | 1 | a0015c0036t0008g0001 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.-31-1047C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559287 | ||||||
| chr3:130559401
|
G | C | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-31-933G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559401 | ||||||
| chr3:130559448
|
C | T | 1 | a0009c0005t0004g0223 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-31-886C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559448 | ||||||
| chr3:130559475
|
A | G | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-31-859A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559475 | ||||||
| chr3:130559514
|
A | G | 14 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(11): Show | 15 | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.-31-820A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559514 | ||||||
| chr3:130559538
|
C | T | 2 | a0017c0019t0003g0127a0017c0019t0009g0258 | 2 | HG01361.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.-31-796C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559538 | ||||||
| chr3:130559583
|
A | G | 2 | a0007c0018t0007g0245a0010c0016t0004g0209 | 2 | HG02717.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-31-751A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559583 | ||||||
| chr3:130559975
|
A | T | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-31-359A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130559975 | ||||||
| chr3:130560148
|
C | T | 24 | a0007c0017t0006g0078a0007c0018t0003g0015a0007c0018t0009g0257others(21): Show | 26 | HG00621.hp2 HG02055.hp2 HG02074.hp1 others(23): Show |
intron_variant | MODIFIER | c.-31-186C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130560148 | ||||||
| chr3:130560150
|
A | C | 5 | a0008c0006t0004g0230a0008c0006t0004g0231a0008c0006t0027g0232others(2): Show | 5 | HG01496.hp1 HG01891.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.-31-184A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | 130560150 | ||||||
| chr3:130560644
|
G | T | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.64+216G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130560644 | ||||||
| chr3:130560645
|
A | G | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.64+217A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130560645 | ||||||
| chr3:130560866
|
T | C | 11 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(8): Show | 11 | HG01255.hp2 HG02055.hp1 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.64+438T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130560866 | ||||||
| chr3:130560889
|
C | A | 25 | a0007c0017t0006g0078a0007c0032t0003g0128a0007c0032t0003g0129others(22): Show | 27 | HG01884.hp2 HG02055.hp2 HG02074.hp1 others(24): Show |
intron_variant | MODIFIER | c.64+461C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130560889 | ||||||
| chr3:130560929
|
AACCACCT others(1): Show |
A | 91 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(88): Show | 91 | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.64+506_64+513delCC others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130560929 | |||||
| chr3:130561110
|
T | C | 3 | a0009c0005t0006g0057a0009c0005t0006g0058a0046c0054t0002g0055 | 3 | HG02015.hp1 NA18960.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.64+682T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561110 | ||||||
| chr3:130561141
|
C | T | 3 | a0018c0033t0001g0193a0018c0033t0025g0192a0033c0077t0001g0148 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.64+713C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561141 | ||||||
| chr3:130561142
|
G | A | 1 | a0019c0021t0003g0198 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.64+714G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561142 | ||||||
| chr3:130561491
|
T | G | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.64+1063T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561491 | ||||||
| chr3:130561582
|
A | C | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.64+1154A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561582 | ||||||
| chr3:130561634
|
C | CT | 19 | a0003c0010t0003g0261a0003c0010t0009g0251a0003c0010t0009g0252others(16): Show | 19 | HG00408.hp1 HG00597.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.64+1235dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
C | CTT | 15 | a0003c0010t0001g0181a0003c0023t0003g0022a0003c0023t0007g0211others(12): Show | 15 | HG02129.hp2 HG02135.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.64+1234_64+1235dup others(2): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTT | C | 14 | a0007c0018t0003g0015a0007c0018t0007g0245a0007c0032t0003g0128others(11): Show | 14 | HG00621.hp2 HG02055.hp2 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.64+1233_64+1235del others(3): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTT | C | 7 | a0001c0001t0001g0114a0002c0002t0002g0075a0009c0055t0001g0176others(4): Show | 7 | HG01884.hp2 HG02074.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.64+1232_64+1235del others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTTT | C | 101 | a0001c0001t0001g0011a0001c0001t0001g0121a0001c0001t0001g0135others(98): Show | 101 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(98): Show |
intron_variant | MODIFIER | c.64+1231_64+1235del others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTTTT | C | 34 | a0001c0001t0001g0133a0001c0001t0001g0142a0001c0001t0001g0146others(31): Show | 36 | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(33): Show |
intron_variant | MODIFIER | c.64+1230_64+1235del others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTTTTT | C | 7 | a0006c0015t0001g0205a0014c0011t0001g0177a0014c0011t0003g0178others(4): Show | 7 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.64+1229_64+1235del others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTTTTT others(1): Show |
C | 23 | a0003c0010t0004g0222a0003c0013t0014g0031a0005c0003t0001g0151others(20): Show | 23 | HG00280.hp1 HG00642.hp1 HG01070.hp2 others(20): Show |
intron_variant | MODIFIER | c.64+1228_64+1235del others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561634
|
CTTTTTTT others(9): Show |
C | 1 | a0019c0021t0003g0198 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.64+1220_64+1235del others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130561634 | |||||
| chr3:130561642
|
T | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.64+1214T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561642 | ||||||
| chr3:130561676
|
C | T | 3 | a0003c0010t0003g0261a0006c0007t0003g0260a0013c0012t0008g0008 | 3 | NA18951.hp2 NA18998.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.64+1248C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561676 | ||||||
| chr3:130561677
|
G | A | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.64+1249G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561677 | ||||||
| chr3:130561696
|
A | G | 1 | a0023c0039t0017g0101 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.64+1268A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561696 | ||||||
| chr3:130561778
|
G | A | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.65-1290G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561778 | ||||||
| chr3:130561808
|
G | A | 1 | a0007c0017t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.65-1260G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561808 | ||||||
| chr3:130561813
|
C | T | 1 | a0002c0002t0002g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.65-1255C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561813 | ||||||
| chr3:130561874
|
G | A | 1 | a0006c0015t0012g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.65-1194G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561874 | ||||||
| chr3:130561903
|
C | T | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.65-1165C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561903 | ||||||
| chr3:130561944
|
G | A | 24 | a0008c0006t0001g0032a0008c0006t0003g0122a0008c0006t0003g0180others(21): Show | 24 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.65-1124G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561944 | ||||||
| chr3:130561951
|
T | C | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.65-1117T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561951 | ||||||
| chr3:130561963
|
T | A | 1 | a0007c0017t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.65-1105T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561963 | ||||||
| chr3:130561972
|
A | G | 2 | a0002c0002t0004g0202a0002c0002t0007g0201 | 2 | HG02615.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.65-1096A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130561972 | ||||||
| chr3:130562416
|
T | C | 38 | a0007c0017t0001g0009a0007c0017t0006g0078a0007c0081t0013g0080others(35): Show | 40 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(37): Show |
intron_variant | MODIFIER | c.65-652T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130562416 | ||||||
| chr3:130562479
|
G | A | 1 | a0023c0039t0026g0112 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.65-589G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130562479 | ||||||
| chr3:130562507
|
AT | A | 3 | a0007c0018t0003g0015a0010c0016t0001g0113a0010c0016t0010g0256 | 3 | HG00621.hp2 HG03834.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.65-554delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | 130562507 | |||||
| chr3:130562529
|
T | A | 99 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(96): Show | 99 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.65-539T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130562529 | ||||||
| chr3:130562868
|
G | A | 2 | a0009c0005t0002g0062a0048c0047t0019g0099 | 2 | NA18971.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.65-200G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | chr3 | 130562868 | ||||||
| chr3:130563666
|
T | C | 1 | a0013c0012t0006g0086 | 1 | HG02083.hp1 | splice_donor_variant&intron_variant | HIGH | c.661+2T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130563666 | ||||||
| chr3:130563723
|
G | A | 49 | a0003c0010t0003g0006a0003c0010t0003g0007a0003c0010t0004g0222others(46): Show | 49 | HG00280.hp1 HG00597.hp2 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.661+59G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130563723 | ||||||
| chr3:130563827
|
T | C | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.661+163T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130563827 | ||||||
| chr3:130563987
|
T | G | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.661+323T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130563987 | ||||||
| chr3:130564248
|
G | A | 8 | a0002c0002t0005g0100a0003c0062t0004g0216a0012c0009t0005g0054others(5): Show | 8 | HG00408.hp2 HG02630.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.661+584G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564248 | ||||||
| chr3:130564401
|
T | A | 1 | a0004c0004t0002g0047 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.662-593T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564401 | ||||||
| chr3:130564439
|
A | G | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.662-555A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564439 | ||||||
| chr3:130564600
|
G | A | 1 | a0001c0001t0002g0107 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.662-394G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564600 | ||||||
| chr3:130564840
|
C | T | 1 | a0016c0020t0008g0145 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.662-154C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564840 | ||||||
| chr3:130564948
|
C | T | 1 | a0007c0072t0020g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.662-46C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | 130564948 | ||||||
| chr3:130565746
|
C | G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1282+132C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130565746 | ||||||
| chr3:130565816
|
C | T | 1 | a0003c0060t0001g0150 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1282+202C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130565816 | ||||||
| chr3:130565942
|
G | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1282+328G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130565942 | ||||||
| chr3:130565996
|
T | C | 179 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(176): Show | 181 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(178): Show |
intron_variant | MODIFIER | c.1282+382T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130565996 | ||||||
| chr3:130566048
|
A | G | 15 | a0007c0017t0004g0210a0007c0018t0007g0245a0007c0032t0003g0128others(12): Show | 15 | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.1282+434A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566048 | ||||||
| chr3:130566177
|
C | T | 3 | a0006c0007t0007g0092a0006c0007t0007g0093a0011c0008t0001g0187 | 3 | HG00280.hp1 HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1283-525C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566177 | ||||||
| chr3:130566188
|
G | A | 1 | a0003c0013t0003g0262 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1283-514G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566188 | ||||||
| chr3:130566291
|
A | G | 8 | a0007c0017t0001g0009a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.1283-411A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566291 | ||||||
| chr3:130566372
|
A | G | 1 | a0008c0006t0027g0232 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1283-330A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566372 | ||||||
| chr3:130566493
|
T | C | 1 | a0010c0014t0001g0018 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1283-209T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566493 | ||||||
| chr3:130566541
|
G | A | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1283-161G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 4/36 | chr3 | 130566541 | ||||||
| chr3:130567301
|
G | A | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1843+39G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130567301 | ||||||
| chr3:130567333
|
C | G | 2 | a0002c0002t0001g0166a0002c0002t0004g0219 | 2 | HG02109.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1843+71C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130567333 | ||||||
| chr3:130567581
|
T | A | 165 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(162): Show | 167 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(164): Show |
intron_variant | MODIFIER | c.1843+319T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130567581 | ||||||
| chr3:130567600
|
G | A | 13 | a0007c0017t0006g0078a0007c0081t0013g0080a0007c0083t0005g0048others(10): Show | 15 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(12): Show |
intron_variant | MODIFIER | c.1843+338G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130567600 | ||||||
| chr3:130567727
|
C | CT | 17 | a0008c0006t0001g0032a0008c0006t0003g0122a0008c0006t0003g0180others(14): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.1844-319dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr3 | 130567727 | |||||
| chr3:130568008
|
T | C | 13 | a0008c0006t0003g0122a0008c0006t0003g0180a0008c0006t0004g0226others(10): Show | 13 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.1844-39T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130568008 | ||||||
| chr3:130568042
|
T | C | 124 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(121): Show | 124 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(121): Show |
splice_region_variant&intron_variant | LOW | c.1844-5T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 5/36 | chr3 | 130568042 | ||||||
| chr3:130568638
|
C | T | 17 | a0008c0006t0001g0032a0008c0006t0003g0122a0008c0006t0003g0180others(14): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.2401+34C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130568638 | ||||||
| chr3:130568995
|
G | A | 4 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(1): Show | 4 | HG02055.hp2 HG03540.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2401+391G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130568995 | ||||||
| chr3:130569068
|
G | A | 9 | a0003c0010t0001g0181a0003c0023t0003g0022a0003c0060t0001g0150others(6): Show | 9 | HG02257.hp1 HG02280.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2401+464G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569068 | ||||||
| chr3:130569088
|
C | A | 1 | a0021c0030t0001g0156 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2401+484C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569088 | ||||||
| chr3:130569097
|
A | G | 196 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(193): Show | 196 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(193): Show |
intron_variant | MODIFIER | c.2401+493A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569097 | ||||||
| chr3:130569127
|
C | A | 1 | a0002c0002t0005g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2401+523C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569127 | ||||||
| chr3:130569127
|
C | G | 259 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(256): Show | 261 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(258): Show |
intron_variant | MODIFIER | c.2401+523C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569127 | ||||||
| chr3:130569202
|
C | A | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2401+598C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569202 | ||||||
| chr3:130569355
|
A | T | 5 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.2401+751A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569355 | ||||||
| chr3:130569509
|
T | A | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2401+905T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569509 | ||||||
| chr3:130569652
|
G | A | 1 | a0015c0037t0008g0169 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2401+1048G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569652 | ||||||
| chr3:130569726
|
G | A | 1 | a0001c0001t0001g0135 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2402-1092G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569726 | ||||||
| chr3:130569840
|
G | A | 245 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(242): Show | 246 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(243): Show |
intron_variant | MODIFIER | c.2402-978G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569840 | ||||||
| chr3:130569931
|
G | T | 1 | a0004c0004t0001g0206 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2402-887G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130569931 | ||||||
| chr3:130570054
|
A | C | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2402-764A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570054 | ||||||
| chr3:130570064
|
C | G | 1 | a0002c0002t0007g0228 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2402-754C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570064 | ||||||
| chr3:130570100
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2402-718C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570100 | ||||||
| chr3:130570103
|
T | C | 13 | a0008c0006t0003g0122a0008c0006t0003g0180a0008c0006t0004g0226others(10): Show | 13 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.2402-715T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570103 | ||||||
| chr3:130570140
|
G | A | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.2402-678G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570140 | ||||||
| chr3:130570259
|
C | A | 1 | a0012c0009t0005g0054 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2402-559C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570259 | ||||||
| chr3:130570547
|
A | G | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.2402-271A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570547 | ||||||
| chr3:130570692
|
C | T | 17 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(14): Show | 17 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2402-126C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570692 | ||||||
| chr3:130570732
|
C | T | 3 | a0003c0010t0004g0222a0006c0007t0001g0194a0006c0015t0004g0225 | 3 | HG03225.hp2 HG03579.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2402-86C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570732 | ||||||
| chr3:130570773
|
T | C | 203 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(200): Show | 204 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(201): Show |
intron_variant | MODIFIER | c.2402-45T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 6/36 | chr3 | 130570773 | ||||||
| chr3:130571397
|
A | T | 1 | a0006c0063t0023g0168 | 1 | HG02257.hp1 | splice_region_variant&intron_variant | LOW | c.2977+4A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130571397 | ||||||
| chr3:130571691
|
T | A | 17 | a0008c0006t0001g0032a0008c0006t0003g0122a0008c0006t0003g0180others(14): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.2977+298T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130571691 | ||||||
| chr3:130571719
|
G | T | 26 | a0003c0027t0004g0213a0003c0027t0004g0214a0008c0006t0001g0032others(23): Show | 26 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.2977+326G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130571719 | ||||||
| chr3:130571753
|
C | T | 6 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.2977+360C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130571753 | ||||||
| chr3:130571842
|
A | AT | 200 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(197): Show | 201 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(198): Show |
intron_variant | MODIFIER | c.2977+470dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130571842 | |||||
| chr3:130571842
|
A | ATT | 35 | a0001c0001t0001g0135a0002c0002t0007g0228a0003c0010t0003g0007others(32): Show | 35 | HG00621.hp1 HG01243.hp1 HG01255.hp2 others(32): Show |
intron_variant | MODIFIER | c.2977+469_2977+470d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130571842 | |||||
| chr3:130571842
|
A | ATTT | 21 | a0003c0027t0004g0214a0004c0029t0004g0236a0008c0006t0001g0032others(18): Show | 22 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.2977+468_2977+470d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130571842 | |||||
| chr3:130571966
|
G | T | 196 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(193): Show | 197 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(194): Show |
intron_variant | MODIFIER | c.2977+573G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130571966 | ||||||
| chr3:130572113
|
G | A | 1 | a0005c0003t0006g0174 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2977+720G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572113 | ||||||
| chr3:130572262
|
C | A | 1 | a0001c0001t0010g0255 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2977+869C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572262 | ||||||
| chr3:130572367
|
C | T | 102 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(99): Show | 103 | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.2977+974C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572367 | ||||||
| chr3:130572399
|
AAGATACT others(13): Show |
A | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2977+1011_2977+103 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130572399 | |||||
| chr3:130572932
|
CAT | C | 6 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.2978-1023_2978-102 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572932 | ||||||
| chr3:130572958
|
G | A | 2 | a0008c0006t0004g0226a0008c0006t0007g0227 | 2 | HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.2978-998G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572958 | ||||||
| chr3:130572965
|
G | T | 13 | a0008c0006t0003g0122a0008c0006t0003g0180a0008c0006t0004g0226others(10): Show | 13 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.2978-991G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130572965 | ||||||
| chr3:130573225
|
A | G | 17 | a0008c0006t0001g0032a0008c0006t0003g0122a0008c0006t0003g0180others(14): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.2978-731A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573225 | ||||||
| chr3:130573229
|
G | A | 1 | a0012c0009t0005g0106 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.2978-727G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573229 | ||||||
| chr3:130573274
|
T | C | 6 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(3): Show | 6 | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.2978-682T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573274 | ||||||
| chr3:130573295
|
C | T | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2978-661C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573295 | ||||||
| chr3:130573350
|
C | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2978-606C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573350 | ||||||
| chr3:130573405
|
A | G | 2 | a0024c0031t0003g0016a0024c0031t0012g0025 | 2 | HG02622.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2978-551A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573405 | ||||||
| chr3:130573519
|
A | G | 3 | a0004c0004t0002g0047a0036c0068t0002g0079a0037c0069t0002g0046 | 3 | NA18964.hp1 NA18979.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.2978-437A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573519 | ||||||
| chr3:130573563
|
CT | C | 201 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0133others(198): Show | 202 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(199): Show |
intron_variant | MODIFIER | c.2978-372delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130573563 | |||||
| chr3:130573563
|
CTT | C | 11 | a0002c0002t0002g0041a0005c0003t0001g0151a0005c0003t0002g0098others(8): Show | 11 | HG01070.hp2 HG01361.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.2978-373_2978-372d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | 130573563 | |||||
| chr3:130573821
|
G | A | 13 | a0003c0013t0003g0262a0007c0017t0006g0078a0007c0083t0005g0048others(10): Show | 14 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.2978-135G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573821 | ||||||
| chr3:130573848
|
A | C | 2 | a0007c0032t0003g0128a0007c0032t0003g0129 | 2 | HG02055.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2978-108A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573848 | ||||||
| chr3:130573859
|
G | A | 5 | a0003c0010t0003g0006a0003c0010t0003g0007a0004c0004t0002g0047others(2): Show | 5 | NA18964.hp1 NA18977.hp2 NA18979.hp2 others(2): Show |
intron_variant | MODIFIER | c.2978-97G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573859 | ||||||
| chr3:130573879
|
A | G | 1 | a0003c0010t0001g0181 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2978-77A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | chr3 | 130573879 | ||||||
| chr3:130574604
|
C | G | 1 | a0005c0003t0011g0237 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3547+79C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130574604 | ||||||
| chr3:130574841
|
A | G | 1 | a0009c0005t0006g0057 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.3547+316A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130574841 | ||||||
| chr3:130574893
|
G | A | 1 | a0001c0001t0002g0105 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3547+368G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130574893 | ||||||
| chr3:130575080
|
G | C | 2 | a0003c0010t0004g0222a0027c0041t0001g0021 | 2 | HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.3547+555G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575080 | ||||||
| chr3:130575174
|
A | G | 4 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(1): Show | 4 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.3547+649A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575174 | ||||||
| chr3:130575235
|
C | T | 1 | a0046c0054t0002g0055 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.3547+710C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575235 | ||||||
| chr3:130575300
|
A | G | 19 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0001g0032others(16): Show | 19 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.3547+775A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575300 | ||||||
| chr3:130575508
|
C | G | 1 | a0049c0057t0004g0091 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3547+983C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575508 | ||||||
| chr3:130575720
|
T | G | 30 | a0003c0010t0001g0181a0004c0004t0002g0026a0004c0026t0001g0023others(27): Show | 30 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.3547+1195T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575720 | ||||||
| chr3:130575789
|
G | A | 4 | a0001c0001t0001g0114a0001c0001t0002g0064a0001c0001t0002g0065others(1): Show | 4 | HG02074.hp2 HG02132.hp2 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.3547+1264G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575789 | ||||||
| chr3:130575869
|
C | G | 15 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0003g0122others(12): Show | 15 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.3547+1344C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130575869 | ||||||
| chr3:130576152
|
G | A | 1 | a0002c0002t0003g0134 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3547+1627G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576152 | ||||||
| chr3:130576303
|
G | A | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3547+1778G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576303 | ||||||
| chr3:130576358
|
A | C | 2 | a0025c0073t0028g0218a0025c0074t0004g0215 | 2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3547+1833A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576358 | ||||||
| chr3:130576363
|
T | C | 42 | a0002c0002t0005g0100a0003c0010t0001g0181a0003c0010t0004g0222others(39): Show | 42 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(39): Show |
intron_variant | MODIFIER | c.3547+1838T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576363 | ||||||
| chr3:130576478
|
C | T | 1 | a0005c0003t0002g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.3547+1953C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576478 | ||||||
| chr3:130576542
|
A | G | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3547+2017A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576542 | ||||||
| chr3:130576665
|
C | CA | 217 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(214): Show | 219 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.3547+2149dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130576665 | |||||
| chr3:130576665
|
C | CAA | 33 | a0002c0002t0003g0158a0002c0002t0003g0171a0002c0002t0005g0100others(30): Show | 33 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.3547+2148_3547+214 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130576665 | |||||
| chr3:130576665
|
C | CAAA | 6 | a0003c0010t0001g0181a0003c0010t0004g0222a0004c0004t0002g0026others(3): Show | 6 | HG02559.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.3547+2147_3547+214 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130576665 | |||||
| chr3:130576899
|
A | C | 19 | a0003c0013t0003g0262a0003c0071t0004g0200a0004c0029t0002g0036others(16): Show | 20 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.3547+2374A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576899 | ||||||
| chr3:130576957
|
A | G | 115 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(112): Show | 116 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(113): Show |
intron_variant | MODIFIER | c.3547+2432A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130576957 | ||||||
| chr3:130577067
|
G | A | 2 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | HG02602.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.3547+2542G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577067 | ||||||
| chr3:130577073
|
A | G | 1 | a0010c0038t0002g0077 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3547+2548A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577073 | ||||||
| chr3:130577398
|
A | T | 7 | a0007c0017t0001g0009a0007c0017t0004g0210a0007c0032t0003g0128others(4): Show | 7 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.3547+2873A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577398 | ||||||
| chr3:130577471
|
G | C | 1 | a0005c0059t0030g0221 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.3547+2946G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577471 | ||||||
| chr3:130577545
|
A | G | 2 | a0001c0001t0002g0056a0044c0052t0005g0060 | 2 | NA18954.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.3547+3020A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577545 | ||||||
| chr3:130577836
|
C | T | 258 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(255): Show | 260 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.3547+3311C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577836 | ||||||
| chr3:130577883
|
A | AGTAATGG others(2): Show |
6 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.3547+3359_3547+336 others(13): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130577883 | |||||
| chr3:130577920
|
C | G | 258 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(255): Show | 260 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.3547+3395C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577920 | ||||||
| chr3:130577927
|
T | C | 1 | a0001c0001t0005g0061 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3547+3402T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577927 | ||||||
| chr3:130577937
|
G | A | 1 | a0006c0007t0001g0123 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3547+3412G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130577937 | ||||||
| chr3:130578083
|
G | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3548-3478G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578083 | ||||||
| chr3:130578180
|
G | A | 3 | a0001c0001t0002g0107a0012c0009t0003g0136a0012c0009t0005g0063 | 3 | HG00280.hp2 HG01074.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.3548-3381G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578180 | ||||||
| chr3:130578269
|
C | T | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.3548-3292C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578269 | ||||||
| chr3:130578371
|
C | T | 1 | a0015c0037t0008g0169 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.3548-3190C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578371 | ||||||
| chr3:130578415
|
T | C | 100 | a0001c0056t0002g0059a0003c0010t0003g0006a0003c0010t0003g0007others(97): Show | 100 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(97): Show |
intron_variant | MODIFIER | c.3548-3146T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578415 | ||||||
| chr3:130578611
|
A | G | 2 | a0023c0039t0017g0101a0023c0039t0026g0112 | 2 | HG02080.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.3548-2950A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578611 | ||||||
| chr3:130578613
|
A | G | 42 | a0002c0002t0005g0100a0003c0010t0001g0181a0003c0010t0004g0222others(39): Show | 42 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(39): Show |
intron_variant | MODIFIER | c.3548-2948A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578613 | ||||||
| chr3:130578773
|
C | T | 11 | a0003c0010t0001g0181a0004c0004t0002g0026a0014c0011t0001g0177others(8): Show | 11 | HG01255.hp2 HG02055.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.3548-2788C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578773 | ||||||
| chr3:130578797
|
G | T | 1 | a0002c0002t0003g0149 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3548-2764G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578797 | ||||||
| chr3:130578803
|
G | A | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3548-2758G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578803 | ||||||
| chr3:130578815
|
C | T | 107 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(104): Show | 108 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(105): Show |
intron_variant | MODIFIER | c.3548-2746C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578815 | ||||||
| chr3:130578838
|
G | A | 2 | a0003c0010t0004g0222a0027c0041t0001g0021 | 2 | HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.3548-2723G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578838 | ||||||
| chr3:130578993
|
C | G | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3548-2568C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130578993 | ||||||
| chr3:130579193
|
G | T | 2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.3548-2368G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579193 | ||||||
| chr3:130579207
|
C | T | 6 | a0002c0002t0001g0166a0002c0002t0004g0219a0010c0014t0001g0017others(3): Show | 6 | HG01884.hp2 HG02109.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.3548-2354C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579207 | ||||||
| chr3:130579442
|
G | A | 2 | a0003c0060t0001g0150a0042c0080t0001g0020 | 2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3548-2119G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579442 | ||||||
| chr3:130579478
|
C | T | 2 | a0004c0004t0009g0247a0004c0004t0010g0248 | 2 | NA18995.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.3548-2083C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579478 | ||||||
| chr3:130579489
|
C | A | 1 | a0001c0001t0001g0142 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3548-2072C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579489 | ||||||
| chr3:130579602
|
G | A | 12 | a0002c0002t0005g0100a0003c0010t0004g0222a0004c0076t0002g0053others(9): Show | 12 | HG02055.hp2 HG02602.hp2 HG03225.hp1 others(9): Show |
intron_variant | MODIFIER | c.3548-1959G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130579602 | ||||||
| chr3:130579873
|
TAGAC | T | 7 | a0007c0017t0001g0009a0007c0017t0004g0210a0007c0032t0003g0128others(4): Show | 7 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.3548-1686_3548-168 others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130579873 | |||||
| chr3:130580220
|
C | T | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3548-1341C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580220 | ||||||
| chr3:130580255
|
C | G | 1 | a0002c0051t0007g0238 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3548-1306C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580255 | ||||||
| chr3:130580265
|
C | T | 3 | a0013c0012t0006g0086a0022c0024t0005g0037a0022c0024t0018g0097 | 3 | HG00597.hp2 HG02083.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.3548-1296C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580265 | ||||||
| chr3:130580439
|
CA | C | 5 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.3548-1120delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130580439 | |||||
| chr3:130580523
|
G | A | 1 | a0006c0007t0003g0260 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.3548-1038G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580523 | ||||||
| chr3:130580588
|
A | C | 13 | a0003c0010t0001g0181a0003c0027t0004g0213a0003c0027t0004g0214others(10): Show | 13 | HG01255.hp2 HG02055.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.3548-973A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580588 | ||||||
| chr3:130580676
|
G | T | 9 | a0003c0010t0004g0222a0007c0017t0001g0009a0007c0017t0004g0210others(6): Show | 9 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(6): Show |
intron_variant | MODIFIER | c.3548-885G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580676 | ||||||
| chr3:130580866
|
C | T | 1 | a0004c0076t0002g0053 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3548-695C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130580866 | ||||||
| chr3:130581003
|
G | GT | 13 | a0003c0010t0001g0181a0003c0027t0004g0213a0003c0027t0004g0214others(10): Show | 13 | HG01255.hp2 HG02055.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.3548-545dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr3 | 130581003 | |||||
| chr3:130581054
|
C | A | 6 | a0003c0010t0001g0181a0003c0027t0004g0213a0003c0027t0004g0214others(3): Show | 6 | HG02559.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.3548-507C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130581054 | ||||||
| chr3:130581183
|
A | G | 1 | a0013c0012t0006g0040 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3548-378A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130581183 | ||||||
| chr3:130581193
|
T | C | 4 | a0008c0006t0003g0180a0008c0006t0004g0241a0008c0006t0004g0242others(1): Show | 4 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.3548-368T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130581193 | ||||||
| chr3:130581243
|
G | T | 258 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(255): Show | 260 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.3548-318G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130581243 | ||||||
| chr3:130581440
|
T | C | 1 | a0002c0002t0005g0076 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3548-121T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 8/36 | chr3 | 130581440 | ||||||
| chr3:130582343
|
G | A | 1 | a0011c0008t0001g0154 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.3970+275G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582343 | ||||||
| chr3:130582378
|
T | C | 1 | a0009c0005t0002g0062 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.3970+310T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582378 | ||||||
| chr3:130582457
|
A | G | 4 | a0007c0017t0001g0009a0007c0040t0004g0234a0007c0040t0004g0235others(1): Show | 4 | HG03225.hp1 HG03516.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3970+389A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582457 | ||||||
| chr3:130582644
|
A | G | 1 | a0002c0002t0022g0165 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.3970+576A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582644 | ||||||
| chr3:130582762
|
C | T | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.3970+694C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582762 | ||||||
| chr3:130582840
|
G | A | 4 | a0008c0006t0003g0180a0008c0006t0004g0241a0008c0006t0004g0242others(1): Show | 4 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.3970+772G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130582840 | ||||||
| chr3:130583261
|
A | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3970+1193A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130583261 | ||||||
| chr3:130583509
|
G | A | 121 | a0001c0056t0002g0059a0003c0010t0001g0181a0003c0010t0003g0006others(118): Show | 121 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(118): Show |
intron_variant | MODIFIER | c.3970+1441G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130583509 | ||||||
| chr3:130583595
|
A | C | 1 | a0002c0002t0002g0074 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3970+1527A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130583595 | ||||||
| chr3:130583858
|
C | G | 9 | a0003c0010t0004g0222a0007c0017t0001g0009a0007c0017t0004g0210others(6): Show | 9 | HG02055.hp2 HG03225.hp1 HG03516.hp1 others(6): Show |
intron_variant | MODIFIER | c.3970+1790C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130583858 | ||||||
| chr3:130583953
|
T | C | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3970+1885T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130583953 | ||||||
| chr3:130584299
|
C | A | 1 | a0006c0015t0012g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3971-2207C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584299 | ||||||
| chr3:130584342
|
C | A | 105 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(102): Show | 106 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(103): Show |
intron_variant | MODIFIER | c.3971-2164C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584342 | ||||||
| chr3:130584499
|
A | G | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3971-2007A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584499 | ||||||
| chr3:130584614
|
T | A | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3971-1892T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584614 | ||||||
| chr3:130584626
|
T | G | 3 | a0018c0033t0001g0193a0018c0033t0025g0192a0033c0077t0001g0148 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3971-1880T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584626 | ||||||
| chr3:130584804
|
T | C | 1 | a0015c0036t0008g0001 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3971-1702T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584804 | ||||||
| chr3:130584909
|
C | T | 1 | a0001c0001t0002g0111 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.3971-1597C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584909 | ||||||
| chr3:130584942
|
TTC | T | 19 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0001g0032others(16): Show | 19 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.3971-1562_3971-156 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr3 | 130584942 | |||||
| chr3:130584970
|
C | G | 6 | a0002c0002t0005g0100a0004c0076t0002g0053a0013c0075t0001g0185others(3): Show | 6 | HG00735.hp2 HG02602.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.3971-1536C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130584970 | ||||||
| chr3:130585147
|
C | T | 2 | a0003c0013t0005g0044a0003c0013t0005g0045 | 2 | NA18949.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.3971-1359C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585147 | ||||||
| chr3:130585222
|
A | C | 96 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0133others(93): Show | 97 | HG00280.hp2 HG00558.hp1 HG00597.hp2 others(94): Show |
intron_variant | MODIFIER | c.3971-1284A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585222 | ||||||
| chr3:130585284
|
G | A | 111 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(108): Show | 112 | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(109): Show |
intron_variant | MODIFIER | c.3971-1222G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585284 | ||||||
| chr3:130585368
|
C | T | 2 | a0003c0023t0003g0022a0006c0063t0023g0168 | 2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.3971-1138C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585368 | ||||||
| chr3:130585617
|
G | A | 2 | a0003c0010t0004g0222a0027c0041t0001g0021 | 2 | HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.3971-889G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585617 | ||||||
| chr3:130585637
|
A | G | 1 | a0010c0016t0004g0209 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3971-869A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585637 | ||||||
| chr3:130585834
|
A | C | 6 | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0061t0015g0196others(3): Show | 6 | HG02257.hp1 HG02486.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.3971-672A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585834 | ||||||
| chr3:130585855
|
G | A | 1 | a0002c0002t0007g0228 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3971-651G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585855 | ||||||
| chr3:130585930
|
T | C | 125 | a0001c0056t0002g0059a0002c0002t0005g0100a0003c0010t0001g0181others(122): Show | 125 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(122): Show |
intron_variant | MODIFIER | c.3971-576T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585930 | ||||||
| chr3:130585981
|
G | T | 3 | a0002c0002t0005g0100a0004c0076t0002g0053a0013c0075t0001g0185 | 3 | HG02602.hp2 HG03942.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3971-525G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130585981 | ||||||
| chr3:130586077
|
C | T | 1 | a0002c0051t0007g0238 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3971-429C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586077 | ||||||
| chr3:130586106
|
C | T | 26 | a0001c0056t0002g0059a0003c0010t0003g0006a0003c0010t0003g0007others(23): Show | 26 | HG00597.hp2 HG00609.hp1 HG01261.hp2 others(23): Show |
intron_variant | MODIFIER | c.3971-400C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586106 | ||||||
| chr3:130586200
|
T | C | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3971-306T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586200 | ||||||
| chr3:130586284
|
C | G | 3 | a0002c0002t0005g0100a0004c0076t0002g0053a0013c0075t0001g0185 | 3 | HG02602.hp2 HG03942.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3971-222C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586284 | ||||||
| chr3:130586299
|
T | C | 1 | a0002c0002t0016g0050 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3971-207T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586299 | ||||||
| chr3:130586367
|
A | T | 1 | a0026c0035t0001g0002 | 2 | HG02970.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3971-139A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586367 | ||||||
| chr3:130586475
|
C | T | 1 | a0004c0022t0001g0010 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3971-31C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 10/36 | chr3 | 130586475 | ||||||
| chr3:130586896
|
G | C | 7 | a0003c0071t0004g0200a0004c0029t0002g0036a0004c0029t0004g0236others(4): Show | 7 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.4125+236G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130586896 | ||||||
| chr3:130587405
|
G | T | 7 | a0002c0002t0005g0100a0004c0076t0002g0053a0008c0006t0001g0032others(4): Show | 7 | HG02109.hp1 HG02572.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.4125+745G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587405 | ||||||
| chr3:130587423
|
G | T | 11 | a0003c0010t0001g0181a0003c0027t0004g0213a0003c0027t0004g0214others(8): Show | 11 | HG01255.hp2 HG02055.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.4125+763G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587423 | ||||||
| chr3:130587448
|
A | G | 1 | a0007c0017t0006g0078 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.4125+788A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587448 | ||||||
| chr3:130587453
|
G | A | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.4125+793G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587453 | ||||||
| chr3:130587454
|
G | A | 2 | a0023c0039t0017g0101a0023c0039t0026g0112 | 2 | HG02080.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.4125+794G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587454 | ||||||
| chr3:130587534
|
A | G | 1 | a0021c0030t0004g0103 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4125+874A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587534 | ||||||
| chr3:130587591
|
A | G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4125+931A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587591 | ||||||
| chr3:130587633
|
A | G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4125+973A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587633 | ||||||
| chr3:130587690
|
G | A | 1 | a0005c0003t0004g0229 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.4125+1030G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587690 | ||||||
| chr3:130587772
|
C | G | 2 | a0003c0010t0004g0222a0027c0041t0001g0021 | 2 | HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4125+1112C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587772 | ||||||
| chr3:130587852
|
G | C | 1 | a0001c0001t0001g0011 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4125+1192G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587852 | ||||||
| chr3:130587877
|
C | T | 1 | a0001c0001t0002g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4126-1213C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587877 | ||||||
| chr3:130587960
|
A | C | 1 | a0004c0026t0004g0208 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.4126-1130A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130587960 | ||||||
| chr3:130588044
|
T | C | 2 | a0007c0084t0002g0083a0015c0037t0006g0081 | 2 | NA19065.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.4126-1046T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588044 | ||||||
| chr3:130588469
|
A | G | 3 | a0004c0004t0002g0038a0004c0004t0002g0039a0013c0012t0006g0040 | 3 | NA18945.hp2 NA18968.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.4126-621A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588469 | ||||||
| chr3:130588692
|
A | G | 3 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244 | 3 | HG01891.hp2 HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.4126-398A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588692 | ||||||
| chr3:130588714
|
G | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4126-376G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588714 | ||||||
| chr3:130588736
|
C | T | 16 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0003g0122others(13): Show | 16 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.4126-354C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588736 | ||||||
| chr3:130588788
|
C | T | 5 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.4126-302C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588788 | ||||||
| chr3:130588808
|
G | A | 80 | a0001c0056t0002g0059a0003c0010t0003g0006a0003c0010t0003g0007others(77): Show | 80 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(77): Show |
intron_variant | MODIFIER | c.4126-282G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130588808 | ||||||
| chr3:130588917
|
C | CA | 30 | a0001c0001t0002g0163a0002c0002t0005g0100a0002c0002t0007g0201others(27): Show | 30 | HG00738.hp1 HG01243.hp1 HG01891.hp2 others(27): Show |
intron_variant | MODIFIER | c.4126-151dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr3 | 130588917 | |||||
| chr3:130588917
|
C | CAA | 16 | a0003c0013t0003g0262a0004c0026t0001g0023a0004c0026t0004g0208others(13): Show | 17 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.4126-152_4126-151d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr3 | 130588917 | |||||
| chr3:130588917
|
CA | C | 86 | a0001c0056t0002g0059a0003c0010t0001g0181a0003c0010t0003g0007others(83): Show | 86 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(83): Show |
intron_variant | MODIFIER | c.4126-151delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr3 | 130588917 | |||||
| chr3:130588917
|
CAA | C | 7 | a0003c0010t0003g0006a0003c0010t0003g0261a0005c0003t0001g0151others(4): Show | 7 | HG01070.hp2 HG01257.hp1 HG02129.hp2 others(4): Show |
intron_variant | MODIFIER | c.4126-152_4126-151d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr3 | 130588917 | |||||
| chr3:130589034
|
A | G | 4 | a0003c0010t0001g0181a0004c0004t0002g0026a0020c0025t0002g0027others(1): Show | 4 | HG02559.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.4126-56A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 11/36 | chr3 | 130589034 | ||||||
| chr3:130589194
|
T | A | 19 | a0003c0013t0003g0262a0003c0071t0004g0200a0004c0029t0002g0036others(16): Show | 20 | HG01243.hp1 HG01891.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.4218+12T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130589194 | ||||||
| chr3:130589563
|
G | A | 2 | a0008c0006t0004g0226a0008c0006t0007g0227 | 2 | HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.4218+381G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130589563 | ||||||
| chr3:130589858
|
A | G | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4218+676A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130589858 | ||||||
| chr3:130589985
|
G | A | 2 | a0003c0061t0015g0196a0003c0070t0002g0035 | 2 | HG03579.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.4218+803G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130589985 | ||||||
| chr3:130590078
|
G | T | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.4218+896G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590078 | ||||||
| chr3:130590177
|
C | T | 6 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4219-864C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590177 | ||||||
| chr3:130590254
|
C | CAT | 3 | a0009c0005t0008g0204a0010c0016t0001g0113a0045c0050t0005g0067 | 3 | HG00621.hp2 NA18945.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.4219-742_4219-741d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590254 | |||||
| chr3:130590254
|
CAT | C | 4 | a0003c0023t0003g0022a0003c0062t0004g0216a0009c0005t0008g0167others(1): Show | 4 | HG01981.hp1 HG02647.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-742_4219-741d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590254 | |||||
| chr3:130590254
|
CATATAT | C | 8 | a0001c0001t0004g0003a0003c0010t0001g0181a0004c0076t0002g0053others(5): Show | 8 | HG01257.hp2 HG02717.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.4219-746_4219-741d others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590254 | |||||
| chr3:130590254
|
CATATATA others(3): Show |
C | 1 | a0008c0006t0003g0180 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4219-750_4219-741d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590254 | |||||
| chr3:130590254
|
CATATATA others(7): Show |
C | 1 | a0012c0009t0005g0054 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.4219-754_4219-741d others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590254 | |||||
| chr3:130590275
|
ATATATAT others(19): Show |
A | 1 | a0008c0006t0027g0232 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4219-764_4219-739d others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590275 | |||||
| chr3:130590277
|
ATATATAT others(24): Show |
A | 1 | a0021c0030t0001g0156 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4219-762_4219-732d others(33): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590277 | |||||
| chr3:130590279
|
ATATATAT others(19): Show |
A | 1 | a0024c0031t0012g0025 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4219-760_4219-735d others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590279 | |||||
| chr3:130590279
|
ATATATAT others(22): Show |
A | 1 | a0026c0035t0001g0002 | 2 | HG02970.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4219-760_4219-732d others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590279 | |||||
| chr3:130590279
|
ATATATAT others(23): Show |
A | 5 | a0003c0071t0004g0200a0004c0029t0002g0036a0013c0028t0004g0199others(2): Show | 5 | HG01243.hp1 HG01891.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.4219-760_4219-731d others(32): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590279 | |||||
| chr3:130590279
|
ATATATAT others(24): Show |
A | 1 | a0004c0029t0004g0236 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.4219-760_4219-730d others(33): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590279 | |||||
| chr3:130590281
|
ATATATAT others(20): Show |
A | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.4219-758_4219-732d others(29): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590281 | |||||
| chr3:130590283
|
ATATATAT others(22): Show |
A | 1 | a0041c0082t0006g0089 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.4219-756_4219-728d others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590283 | |||||
| chr3:130590283
|
ATATATAT others(23): Show |
A | 9 | a0003c0013t0003g0262a0007c0017t0006g0078a0007c0084t0002g0083others(6): Show | 9 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(6): Show |
intron_variant | MODIFIER | c.4219-756_4219-727d others(32): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590283 | |||||
| chr3:130590284
|
TATATATA others(8): Show |
T | 2 | a0007c0017t0004g0210a0018c0033t0001g0193 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4219-756_4219-742d others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590284 | ||||||
| chr3:130590285
|
ATATATAT others(8): Show |
A | 2 | a0018c0033t0025g0192a0033c0077t0001g0148 | 2 | HG02615.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4219-754_4219-740d others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590285 | |||||
| chr3:130590287
|
ATATATAT others(7): Show |
A | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4219-752_4219-739d others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590287 | |||||
| chr3:130590287
|
ATATATAT others(15): Show |
A | 2 | a0007c0040t0004g0234a0007c0040t0004g0235 | 2 | HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4219-752_4219-731d others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590287 | |||||
| chr3:130590289
|
ATATATAT others(16): Show |
A | 2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.4219-750_4219-728d others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590289 | |||||
| chr3:130590289
|
ATATATAT others(17): Show |
A | 1 | a0007c0083t0005g0048 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.4219-750_4219-727d others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590289 | |||||
| chr3:130590291
|
A | T | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4219-750A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590291 | ||||||
| chr3:130590291
|
ATATATAT others(11): Show |
A | 1 | a0038c0065t0002g0203 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4219-748_4219-731d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590291 | |||||
| chr3:130590291
|
ATATATAT others(13): Show |
A | 1 | a0006c0007t0003g0182 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4219-748_4219-729d others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590291 | |||||
| chr3:130590292
|
TATATA | T | 3 | a0004c0004t0002g0026a0020c0025t0002g0027a0020c0025t0002g0028 | 3 | HG02559.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.4219-748_4219-744d others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590292 | ||||||
| chr3:130590292
|
TATATATA | T | 3 | a0008c0006t0004g0241a0008c0006t0004g0242a0008c0006t0004g0243 | 3 | HG00738.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.4219-748_4219-742d others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590292 | ||||||
| chr3:130590293
|
A | T | 3 | a0002c0002t0001g0166a0007c0018t0009g0257a0009c0005t0001g0141 | 3 | HG01261.hp2 HG02809.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.4219-748A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590293 | ||||||
| chr3:130590293
|
ATATATAT others(3): Show |
A | 1 | a0001c0001t0001g0133 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.4219-746_4219-737d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(10): Show |
A | 2 | a0005c0003t0002g0098a0005c0059t0030g0221 | 2 | HG03688.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.4219-746_4219-730d others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(11): Show |
A | 1 | a0011c0008t0002g0049 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.4219-746_4219-729d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(12): Show |
A | 3 | a0006c0007t0001g0191a0007c0017t0001g0009a0007c0072t0020g0190 | 3 | HG02280.hp1 HG03486.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4219-746_4219-728d others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(13): Show |
A | 3 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253 | 3 | NA18982.hp1 NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.4219-746_4219-727d others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(14): Show |
A | 4 | a0003c0013t0014g0031a0004c0004t0009g0254a0011c0008t0001g0187others(1): Show | 4 | HG00280.hp1 HG02145.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-746_4219-726d others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(15): Show |
A | 3 | a0004c0004t0003g0119a0006c0007t0001g0194a0006c0007t0002g0029 | 3 | HG02717.hp2 NA18952.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4219-746_4219-725d others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(16): Show |
A | 4 | a0004c0004t0001g0206a0004c0004t0002g0038a0004c0004t0002g0039others(1): Show | 4 | NA18945.hp2 NA18968.hp2 NA19058.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-746_4219-724d others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590293
|
ATATATAT others(18): Show |
A | 2 | a0022c0024t0005g0037a0022c0024t0018g0097 | 2 | HG00597.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.4219-746_4219-722d others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590293 | |||||
| chr3:130590294
|
TA | T | 3 | a0002c0002t0001g0124a0002c0002t0003g0186a0014c0011t0004g0217 | 3 | HG01975.hp2 HG02897.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.4219-746delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590294 | ||||||
| chr3:130590295
|
A | AT | 4 | a0002c0049t0003g0189a0009c0005t0004g0223a0014c0011t0001g0177others(1): Show | 4 | HG02630.hp2 HG03704.hp1 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-745dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
A | ATT | 3 | a0001c0001t0002g0107a0001c0001t0004g0207a0002c0002t0016g0050 | 3 | HG00280.hp2 HG00673.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.4219-745_4219-744i others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
A | ATTT | 4 | a0001c0001t0002g0163a0001c0001t0007g0090a0002c0002t0003g0108others(1): Show | 4 | HG01261.hp1 HG01943.hp2 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.4219-745_4219-744i others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
A | T | 14 | a0001c0001t0001g0188a0001c0001t0004g0003a0002c0002t0001g0095others(11): Show | 14 | HG00558.hp1 HG01257.hp2 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.4219-746A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590295 | ||||||
| chr3:130590295
|
ATATATTT others(9): Show |
A | 1 | a0011c0008t0001g0154 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.4219-744_4219-729d others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
ATATATTT others(10): Show |
A | 3 | a0005c0003t0006g0088a0006c0063t0023g0168a0011c0008t0002g0034 | 3 | HG02257.hp1 HG03453.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.4219-744_4219-728d others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
ATATATTT others(12): Show |
A | 10 | a0003c0013t0005g0045a0004c0004t0002g0047a0005c0003t0001g0157others(7): Show | 10 | HG00673.hp2 HG01361.hp1 HG04115.hp1 others(7): Show |
intron_variant | MODIFIER | c.4219-744_4219-726d others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
ATATATTT others(13): Show |
A | 3 | a0004c0004t0005g0043a0005c0003t0004g0224a0006c0015t0004g0225 | 3 | HG03225.hp2 HG03239.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.4219-744_4219-725d others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
ATATATTT others(14): Show |
A | 1 | a0005c0003t0008g0184 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4219-744_4219-724d others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590295
|
ATATATTT others(16): Show |
A | 1 | a0013c0012t0006g0086 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.4219-744_4219-722d others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590295 | |||||
| chr3:130590296
|
TA | T | 4 | a0002c0002t0003g0134a0002c0002t0005g0070a0010c0014t0001g0018others(1): Show | 5 | HG01070.hp1 HG01074.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.4219-744delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590296 | ||||||
| chr3:130590296
|
TATA | T | 3 | a0012c0009t0005g0063a0029c0085t0007g0239a0047c0048t0003g0120 | 3 | HG01074.hp2 HG02630.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.4219-744_4219-742d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590296 | ||||||
| chr3:130590297
|
A | AT | 3 | a0001c0001t0021g0019a0014c0011t0003g0178a0028c0042t0003g0118 | 3 | HG01255.hp2 HG02622.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4219-743dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
A | ATT | 3 | a0002c0002t0004g0220a0010c0014t0001g0017a0031c0044t0002g0096 | 3 | HG00621.hp1 HG01975.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4219-743_4219-742i others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
A | ATTTT | 6 | a0001c0001t0001g0114a0001c0001t0010g0255a0002c0002t0022g0165others(3): Show | 6 | HG01169.hp2 HG02015.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.4219-743_4219-742i others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
A | ATTTTT | 3 | a0002c0002t0002g0074a0002c0002t0003g0004a0003c0061t0015g0196 | 3 | HG03239.hp1 HG03579.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.4219-743_4219-742i others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
A | T | 36 | a0001c0001t0001g0188a0001c0001t0002g0087a0001c0001t0002g0107others(33): Show | 36 | HG00280.hp2 HG00558.hp1 HG00609.hp2 others(33): Show |
intron_variant | MODIFIER | c.4219-744A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590297 | ||||||
| chr3:130590297
|
ATATTTTT others(7): Show |
A | 1 | a0016c0020t0001g0144 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.4219-742_4219-729d others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
ATATTTTT others(9): Show |
A | 1 | a0011c0008t0001g0012 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4219-742_4219-727d others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
ATATTTTT others(10): Show |
A | 6 | a0003c0010t0003g0261a0003c0013t0005g0044a0005c0003t0001g0005others(3): Show | 6 | HG00558.hp2 HG01069.hp2 HG03927.hp2 others(3): Show |
intron_variant | MODIFIER | c.4219-742_4219-726d others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
ATATTTTT others(11): Show |
A | 4 | a0004c0004t0009g0247a0004c0004t0010g0248a0005c0003t0001g0152others(1): Show | 4 | HG01071.hp2 HG02129.hp2 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.4219-742_4219-725d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
ATATTTTT others(12): Show |
A | 4 | a0001c0056t0002g0059a0005c0003t0001g0151a0006c0007t0001g0123others(1): Show | 4 | HG00609.hp1 HG01070.hp2 HG02083.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-742_4219-724d others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590297
|
ATATTTTT others(14): Show |
A | 1 | a0039c0064t0005g0085 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.4219-742_4219-722d others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590297 | |||||
| chr3:130590298
|
TA | T | 4 | a0004c0026t0001g0023a0008c0006t0004g0230a0019c0021t0003g0198others(1): Show | 4 | HG00735.hp2 HG02809.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.4219-742delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590298 | ||||||
| chr3:130590299
|
A | ATATT | 7 | a0001c0001t0001g0135a0001c0001t0002g0105a0002c0002t0003g0158others(4): Show | 7 | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.4219-741_4219-740i others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
A | ATT | 5 | a0001c0001t0001g0146a0001c0001t0002g0109a0010c0016t0010g0256others(2): Show | 5 | HG02055.hp1 HG03490.hp1 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.4219-713_4219-712d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
A | ATTTTTTT others(4): Show |
1 | a0009c0005t0002g0062 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.4219-722_4219-712d others(13): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
A | T | 69 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0142others(66): Show | 70 | HG00280.hp2 HG00558.hp1 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.4219-742A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590299 | ||||||
| chr3:130590299
|
ATTTTTTT others(3): Show |
A | 1 | a0016c0020t0008g0145 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4219-721_4219-712d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(4): Show |
A | 1 | a0006c0007t0003g0130 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.4219-722_4219-712d others(13): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(6): Show |
A | 2 | a0005c0003t0004g0229a0006c0007t0005g0052 | 2 | HG01943.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.4219-724_4219-712d others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(8): Show |
A | 6 | a0003c0010t0003g0006a0003c0010t0003g0007a0004c0004t0001g0172others(3): Show | 6 | HG01952.hp2 HG02738.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.4219-726_4219-712d others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(9): Show |
A | 4 | a0004c0004t0010g0250a0005c0003t0003g0014a0011c0008t0001g0131others(1): Show | 4 | HG00408.hp1 HG02486.hp1 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.4219-727_4219-712d others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(10): Show |
A | 2 | a0006c0007t0007g0092a0006c0007t0007g0093 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.4219-728_4219-712d others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(11): Show |
A | 1 | a0025c0073t0028g0218 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4219-729_4219-712d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(13): Show |
A | 1 | a0005c0003t0001g0153 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4219-731_4219-712d others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590299
|
ATTTTTTT others(14): Show |
A | 1 | a0005c0003t0010g0246 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4219-732_4219-712d others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | 130590299 | |||||
| chr3:130590316
|
T | A | 1 | a0004c0004t0001g0172 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.4219-725T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590316 | ||||||
| chr3:130590329
|
T | A | 1 | a0007c0017t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4219-712T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590329 | ||||||
| chr3:130590370
|
T | G | 258 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(255): Show | 260 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.4219-671T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590370 | ||||||
| chr3:130590377
|
A | T | 3 | a0002c0002t0003g0134a0002c0002t0005g0070a0002c0002t0005g0076 | 3 | HG01070.hp1 HG01074.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.4219-664A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590377 | ||||||
| chr3:130590475
|
G | A | 4 | a0010c0014t0001g0017a0010c0014t0001g0018a0010c0014t0001g0132others(1): Show | 4 | HG01884.hp2 HG02257.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.4219-566G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590475 | ||||||
| chr3:130590482
|
C | T | 10 | a0003c0010t0004g0222a0007c0017t0001g0009a0007c0032t0003g0128others(7): Show | 10 | HG02055.hp2 HG02622.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.4219-559C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590482 | ||||||
| chr3:130590485
|
T | A | 3 | a0018c0033t0001g0193a0018c0033t0025g0192a0033c0077t0001g0148 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4219-556T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590485 | ||||||
| chr3:130590485
|
T | G | 254 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(251): Show | 256 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.4219-556T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590485 | ||||||
| chr3:130590491
|
T | A | 1 | a0006c0007t0005g0052 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.4219-550T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590491 | ||||||
| chr3:130590552
|
C | T | 6 | a0007c0017t0001g0009a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG02055.hp2 HG03225.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4219-489C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590552 | ||||||
| chr3:130590607
|
G | A | 2 | a0008c0006t0004g0230a0034c0078t0004g0212 | 2 | HG06807.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.4219-434G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590607 | ||||||
| chr3:130590666
|
C | A | 1 | a0004c0076t0002g0053 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4219-375C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590666 | ||||||
| chr3:130590673
|
G | T | 1 | a0003c0062t0004g0216 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4219-368G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590673 | ||||||
| chr3:130590798
|
G | A | 1 | a0022c0024t0018g0097 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4219-243G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590798 | ||||||
| chr3:130590814
|
G | T | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4219-227G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590814 | ||||||
| chr3:130590817
|
T | C | 1 | a0002c0002t0002g0071 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.4219-224T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590817 | ||||||
| chr3:130590907
|
T | C | 1 | a0002c0002t0003g0162 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.4219-134T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130590907 | ||||||
| chr3:130591009
|
T | C | 11 | a0003c0013t0003g0262a0007c0017t0006g0078a0007c0083t0005g0048others(8): Show | 11 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.4219-32T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130591009 | ||||||
| chr3:130591037
|
C | T | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | splice_region_variant&intron_variant | LOW | c.4219-4C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | 130591037 | ||||||
| chr3:130591317
|
A | G | 5 | a0003c0010t0001g0181a0003c0062t0004g0216a0004c0004t0002g0026others(2): Show | 5 | HG02559.hp1 HG02647.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.4272+223A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591317 | ||||||
| chr3:130591326
|
G | A | 1 | a0005c0059t0030g0221 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4272+232G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591326 | ||||||
| chr3:130591584
|
A | G | 1 | a0019c0021t0005g0030 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4272+490A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591584 | ||||||
| chr3:130591790
|
G | A | 1 | a0005c0003t0004g0224 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.4272+696G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591790 | ||||||
| chr3:130591824
|
A | C | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4273-717A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591824 | ||||||
| chr3:130591874
|
A | G | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4273-667A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130591874 | ||||||
| chr3:130592171
|
A | T | 1 | a0002c0002t0002g0074 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.4273-370A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592171 | ||||||
| chr3:130592173
|
A | G | 3 | a0003c0010t0004g0222a0019c0021t0003g0198a0019c0021t0005g0030 | 3 | HG00735.hp2 HG03098.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4273-368A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592173 | ||||||
| chr3:130592191
|
G | A | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4273-350G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592191 | ||||||
| chr3:130592197
|
GT | G | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4273-341delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr3 | 130592197 | |||||
| chr3:130592272
|
T | C | 1 | a0013c0012t0008g0008 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.4273-269T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592272 | ||||||
| chr3:130592306
|
C | G | 1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4273-235C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592306 | ||||||
| chr3:130592322
|
T | A | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4273-219T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592322 | ||||||
| chr3:130592369
|
A | G | 14 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0062t0004g0216others(11): Show | 14 | HG01255.hp2 HG02055.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.4273-172A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592369 | ||||||
| chr3:130592475
|
C | A | 1 | a0026c0035t0001g0002 | 2 | HG02970.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4273-66C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 13/36 | chr3 | 130592475 | ||||||
| chr3:130592624
|
A | G | 5 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244others(2): Show | 5 | HG01891.hp2 HG02559.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.4344+12A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 14/36 | chr3 | 130592624 | ||||||
| chr3:130592631
|
T | A | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.4344+19T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 14/36 | chr3 | 130592631 | ||||||
| chr3:130592754
|
C | T | 2 | a0003c0023t0007g0211a0003c0061t0015g0196 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4371+32C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 15/36 | chr3 | 130592754 | ||||||
| chr3:130593036
|
G | C | 1 | a0026c0035t0001g0002 | 2 | HG02970.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4372-25G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 15/36 | chr3 | 130593036 | ||||||
| chr3:130593325
|
C | T | 10 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0070t0002g0035others(7): Show | 10 | HG02572.hp2 HG02615.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.4470+73C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | chr3 | 130593325 | ||||||
| chr3:130593359
|
G | C | 3 | a0003c0010t0004g0222a0019c0021t0003g0198a0019c0021t0005g0030 | 3 | HG00735.hp2 HG03098.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.4470+107G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | chr3 | 130593359 | ||||||
| chr3:130593533
|
T | G | 1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4470+281T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | chr3 | 130593533 | ||||||
| chr3:130593906
|
ACTTTGT | A | 3 | a0001c0001t0002g0107a0012c0009t0003g0136a0012c0009t0005g0063 | 3 | HG00280.hp2 HG01074.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.4471-370_4471-365d others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr3 | 130593906 | |||||
| chr3:130594034
|
T | TA | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4471-241dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr3 | 130594034 | |||||
| chr3:130594118
|
G | T | 5 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4471-163G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | chr3 | 130594118 | ||||||
| chr3:130594173
|
T | G | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4471-108T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | chr3 | 130594173 | ||||||
| chr3:130594380
|
A | G | 3 | a0007c0017t0001g0009a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG03225.hp1 HG03516.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4533+37A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594380 | ||||||
| chr3:130594533
|
A | T | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4533+190A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594533 | ||||||
| chr3:130594567
|
A | C | 7 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0062t0004g0216others(4): Show | 7 | HG02572.hp2 HG02615.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.4533+224A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594567 | ||||||
| chr3:130594655
|
A | G | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4533+312A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594655 | ||||||
| chr3:130594670
|
G | C | 258 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(255): Show | 260 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.4533+327G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594670 | ||||||
| chr3:130594691
|
T | C | 1 | a0006c0007t0003g0182 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4533+348T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594691 | ||||||
| chr3:130594765
|
G | T | 2 | a0003c0070t0002g0035a0007c0072t0020g0190 | 2 | HG03486.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4533+422G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594765 | ||||||
| chr3:130594789
|
T | C | 257 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(254): Show | 259 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4533+446T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594789 | ||||||
| chr3:130594808
|
A | G | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4533+465A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594808 | ||||||
| chr3:130594832
|
G | T | 1 | a0017c0019t0003g0127 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4533+489G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594832 | ||||||
| chr3:130594999
|
A | G | 32 | a0003c0010t0001g0181a0003c0013t0014g0031a0003c0023t0007g0211others(29): Show | 33 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(30): Show |
intron_variant | MODIFIER | c.4533+656A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130594999 | ||||||
| chr3:130595160
|
A | G | 4 | a0014c0011t0001g0177a0014c0011t0003g0178a0014c0011t0003g0179others(1): Show | 4 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.4533+817A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595160 | ||||||
| chr3:130595252
|
A | C | 2 | a0003c0023t0007g0211a0003c0061t0015g0196 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4533+909A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595252 | ||||||
| chr3:130595414
|
C | G | 3 | a0007c0018t0007g0245a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4533+1071C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595414 | ||||||
| chr3:130595432
|
C | T | 12 | a0003c0010t0004g0222a0004c0029t0002g0036a0004c0029t0004g0236others(9): Show | 12 | HG00735.hp2 HG01109.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.4533+1089C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595432 | ||||||
| chr3:130595694
|
T | C | 14 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.4533+1351T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595694 | ||||||
| chr3:130595698
|
T | C | 121 | a0002c0002t0004g0220a0002c0002t0007g0228a0003c0010t0001g0181others(118): Show | 122 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(119): Show |
intron_variant | MODIFIER | c.4533+1355T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595698 | ||||||
| chr3:130595772
|
A | G | 23 | a0003c0010t0004g0222a0003c0013t0003g0262a0003c0013t0005g0044others(20): Show | 23 | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.4533+1429A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595772 | ||||||
| chr3:130595825
|
T | C | 2 | a0007c0040t0004g0234a0007c0040t0004g0235 | 2 | HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4533+1482T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595825 | ||||||
| chr3:130595907
|
A | T | 28 | a0003c0010t0001g0181a0003c0013t0014g0031a0003c0023t0007g0211others(25): Show | 29 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(26): Show |
intron_variant | MODIFIER | c.4533+1564A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595907 | ||||||
| chr3:130595933
|
C | T | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.4533+1590C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130595933 | ||||||
| chr3:130596011
|
G | A | 20 | a0003c0010t0004g0222a0003c0013t0003g0262a0003c0013t0005g0044others(17): Show | 20 | HG00735.hp2 HG02055.hp2 HG02074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4533+1668G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596011 | ||||||
| chr3:130596131
|
CAG | C | 20 | a0003c0010t0004g0222a0003c0013t0003g0262a0003c0013t0005g0044others(17): Show | 20 | HG00735.hp2 HG02055.hp2 HG02074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4533+1791_4533+179 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr3 | 130596131 | |||||
| chr3:130596143
|
C | T | 4 | a0006c0007t0002g0029a0006c0007t0003g0182a0006c0015t0012g0033others(1): Show | 4 | HG02717.hp2 HG02976.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4533+1800C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596143 | ||||||
| chr3:130596518
|
A | G | 10 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0070t0002g0035others(7): Show | 10 | HG02572.hp2 HG02615.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.4534-1847A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596518 | ||||||
| chr3:130596590
|
A | G | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4534-1775A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596590 | ||||||
| chr3:130596678
|
C | T | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4534-1687C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596678 | ||||||
| chr3:130596838
|
T | C | 3 | a0003c0010t0004g0222a0003c0062t0004g0216a0027c0041t0001g0021 | 3 | HG02647.hp1 HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4534-1527T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596838 | ||||||
| chr3:130596840
|
G | A | 1 | a0001c0001t0001g0133 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.4534-1525G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596840 | ||||||
| chr3:130596971
|
T | C | 2 | a0019c0021t0003g0198a0019c0021t0005g0030 | 2 | HG00735.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.4534-1394T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130596971 | ||||||
| chr3:130597020
|
A | G | 26 | a0003c0013t0014g0031a0003c0061t0015g0196a0003c0071t0004g0200others(23): Show | 27 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.4534-1345A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597020 | ||||||
| chr3:130597047
|
G | A | 21 | a0003c0010t0001g0181a0003c0010t0004g0222a0003c0013t0003g0262others(18): Show | 21 | HG00735.hp2 HG02055.hp2 HG02074.hp1 others(18): Show |
intron_variant | MODIFIER | c.4534-1318G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597047 | ||||||
| chr3:130597208
|
T | C | 3 | a0007c0018t0007g0245a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4534-1157T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597208 | ||||||
| chr3:130597393
|
T | G | 3 | a0002c0002t0007g0228a0007c0018t0003g0015a0010c0016t0001g0113 | 3 | HG00621.hp2 HG03831.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.4534-972T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597393 | ||||||
| chr3:130597513
|
T | C | 85 | a0003c0013t0014g0031a0003c0023t0007g0211a0003c0061t0015g0196others(82): Show | 86 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(83): Show |
intron_variant | MODIFIER | c.4534-852T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597513 | ||||||
| chr3:130597583
|
G | A | 3 | a0002c0002t0007g0228a0007c0018t0003g0015a0010c0016t0001g0113 | 3 | HG00621.hp2 HG03831.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.4534-782G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597583 | ||||||
| chr3:130597653
|
T | C | 1 | a0007c0017t0006g0078 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.4534-712T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597653 | ||||||
| chr3:130597733
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4534-632C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130597733 | ||||||
| chr3:130598034
|
G | A | 10 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0070t0002g0035others(7): Show | 10 | HG02572.hp2 HG02615.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.4534-331G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130598034 | ||||||
| chr3:130598158
|
C | T | 121 | a0002c0002t0007g0228a0003c0010t0001g0181a0003c0010t0004g0222others(118): Show | 122 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(119): Show |
intron_variant | MODIFIER | c.4534-207C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130598158 | ||||||
| chr3:130598336
|
T | C | 2 | a0016c0020t0001g0144a0016c0020t0008g0145 | 2 | HG00597.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.4534-29T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 18/36 | chr3 | 130598336 | ||||||
| chr3:130598438
|
C | T | 3 | a0018c0033t0001g0193a0018c0033t0025g0192a0033c0077t0001g0148 | 3 | HG02572.hp2 HG02615.hp1 HG02647.hp2 |
splice_region_variant&intron_variant | LOW | c.4599+8C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598438 | ||||||
| chr3:130598439
|
G | A | 3 | a0003c0013t0014g0031a0017c0019t0003g0127a0017c0019t0009g0258 | 3 | HG01361.hp1 HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4599+9G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598439 | ||||||
| chr3:130598443
|
G | A | 5 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4599+13G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598443 | ||||||
| chr3:130598497
|
G | A | 261 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(258): Show | 263 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(260): Show |
intron_variant | MODIFIER | c.4599+67G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598497 | ||||||
| chr3:130598563
|
G | A | 2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4599+133G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598563 | ||||||
| chr3:130598671
|
G | A | 3 | a0007c0017t0001g0009a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG03225.hp1 HG03516.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4599+241G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598671 | ||||||
| chr3:130598813
|
T | G | 17 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0070t0002g0035others(14): Show | 17 | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.4599+383T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598813 | ||||||
| chr3:130598947
|
G | A | 1 | a0004c0076t0002g0053 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4599+517G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598947 | ||||||
| chr3:130598964
|
G | A | 4 | a0002c0002t0007g0228a0007c0018t0003g0015a0007c0018t0009g0257others(1): Show | 4 | HG00621.hp2 HG03831.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.4599+534G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130598964 | ||||||
| chr3:130599003
|
C | T | 50 | a0004c0029t0002g0036a0004c0029t0004g0236a0005c0003t0001g0005others(47): Show | 50 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(47): Show |
intron_variant | MODIFIER | c.4599+573C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599003 | ||||||
| chr3:130599004
|
G | A | 2 | a0003c0023t0007g0211a0003c0061t0015g0196 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4599+574G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599004 | ||||||
| chr3:130599014
|
A | ATCTCTCT others(7): Show |
1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+584_4599+585i others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599014 | ||||||
| chr3:130599017
|
G | C | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+587G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599017 | ||||||
| chr3:130599021
|
T | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+591T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599021 | ||||||
| chr3:130599023
|
T | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+593T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599023 | ||||||
| chr3:130599025
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+595C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599025 | ||||||
| chr3:130599026
|
T | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+596T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599026 | ||||||
| chr3:130599027
|
T | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+597T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599027 | ||||||
| chr3:130599028
|
T | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+598T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599028 | ||||||
| chr3:130599033
|
A | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+603A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599033 | ||||||
| chr3:130599034
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+604C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599034 | ||||||
| chr3:130599036
|
G | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+606G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599036 | ||||||
| chr3:130599037
|
C | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+607C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599037 | ||||||
| chr3:130599039
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+609C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599039 | ||||||
| chr3:130599040
|
T | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+610T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599040 | ||||||
| chr3:130599041
|
G | C | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4599+611G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599041 | ||||||
| chr3:130599042
|
G | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+612G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599042 | ||||||
| chr3:130599045
|
C | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+615C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599045 | ||||||
| chr3:130599046
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+616C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599046 | ||||||
| chr3:130599059
|
C | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+629C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599059 | ||||||
| chr3:130599060
|
G | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+630G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599060 | ||||||
| chr3:130599063
|
G | C | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+633G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599063 | ||||||
| chr3:130599070
|
A | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+640A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599070 | ||||||
| chr3:130599071
|
G | C | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+641G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599071 | ||||||
| chr3:130599075
|
T | C | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+645T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599075 | ||||||
| chr3:130599080
|
C | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+650C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599080 | ||||||
| chr3:130599081
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+651C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599081 | ||||||
| chr3:130599084
|
G | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+654G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599084 | ||||||
| chr3:130599093
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4599+663C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599093 | ||||||
| chr3:130599097
|
A | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-660A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599097 | ||||||
| chr3:130599099
|
A | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-658A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599099 | ||||||
| chr3:130599100
|
C | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-657C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599100 | ||||||
| chr3:130599101
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-656C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599101 | ||||||
| chr3:130599102
|
C | A | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-655C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599102 | ||||||
| chr3:130599103
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-654C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599103 | ||||||
| chr3:130599105
|
A | T | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4600-652A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599105 | ||||||
| chr3:130599118
|
T | C | 125 | a0002c0002t0007g0228a0003c0010t0001g0181a0003c0010t0004g0222others(122): Show | 126 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(123): Show |
intron_variant | MODIFIER | c.4600-639T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599118 | ||||||
| chr3:130599134
|
G | A | 3 | a0007c0017t0001g0009a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG03225.hp1 HG03516.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4600-623G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599134 | ||||||
| chr3:130599156
|
G | A | 50 | a0004c0029t0002g0036a0004c0029t0004g0236a0005c0003t0001g0005others(47): Show | 50 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(47): Show |
intron_variant | MODIFIER | c.4600-601G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599156 | ||||||
| chr3:130599205
|
T | C | 5 | a0003c0071t0004g0200a0013c0028t0004g0199a0013c0028t0011g0244others(2): Show | 5 | HG01891.hp2 HG02559.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.4600-552T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599205 | ||||||
| chr3:130599331
|
G | T | 2 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.4600-426G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599331 | ||||||
| chr3:130599415
|
G | GCTTTAGT others(3): Show |
8 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.4600-341_4600-340i others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr3 | 130599415 | |||||
| chr3:130599419
|
T | C | 8 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.4600-338T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599419 | ||||||
| chr3:130599421
|
C | CTGTGTT | 8 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.4600-336_4600-335i others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599421 | ||||||
| chr3:130599422
|
C | A | 8 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.4600-335C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599422 | ||||||
| chr3:130599632
|
G | A | 3 | a0007c0018t0007g0245a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4600-125G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599632 | ||||||
| chr3:130599640
|
A | G | 4 | a0006c0007t0001g0194a0006c0015t0004g0225a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4600-117A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599640 | ||||||
| chr3:130599744
|
G | A | 11 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(8): Show | 11 | HG02074.hp1 HG02080.hp1 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.4600-13G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | 130599744 | ||||||
| chr3:130599945
|
C | T | 3 | a0003c0013t0014g0031a0017c0019t0003g0127a0017c0019t0009g0258 | 3 | HG01361.hp1 HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4653+135C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130599945 | ||||||
| chr3:130599946
|
G | A | 1 | a0005c0003t0001g0005 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.4653+136G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130599946 | ||||||
| chr3:130599982
|
G | A | 1 | a0004c0029t0002g0036 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4653+172G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130599982 | ||||||
| chr3:130600122
|
G | C | 94 | a0003c0010t0001g0181a0003c0010t0004g0222a0003c0013t0003g0262others(91): Show | 95 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(92): Show |
intron_variant | MODIFIER | c.4653+312G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600122 | ||||||
| chr3:130600127
|
C | T | 19 | a0003c0010t0001g0181a0003c0010t0004g0222a0003c0013t0003g0262others(16): Show | 19 | HG02055.hp2 HG02074.hp1 HG02080.hp1 others(16): Show |
intron_variant | MODIFIER | c.4653+317C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600127 | ||||||
| chr3:130600520
|
G | A | 2 | a0005c0003t0001g0151a0005c0003t0001g0152 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.4653+710G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600520 | ||||||
| chr3:130600535
|
A | G | 3 | a0004c0026t0001g0023a0004c0026t0004g0208a0010c0086t0001g0155 | 3 | HG02809.hp2 HG03209.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4653+725A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600535 | ||||||
| chr3:130600562
|
G | T | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.4653+752G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600562 | ||||||
| chr3:130600570
|
A | G | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4653+760A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600570 | ||||||
| chr3:130600687
|
A | G | 1 | a0029c0085t0007g0239 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4653+877A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600687 | ||||||
| chr3:130600778
|
AGATGAAC others(9): Show |
A | 1 | a0038c0065t0002g0203 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4653+970_4653+985d others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130600778 | |||||
| chr3:130600861
|
A | T | 2 | a0001c0001t0002g0110a0012c0009t0003g0170 | 2 | HG04199.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.4653+1051A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130600861 | ||||||
| chr3:130601332
|
A | AT | 51 | a0004c0029t0002g0036a0004c0029t0004g0236a0005c0003t0001g0005others(48): Show | 51 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(48): Show |
intron_variant | MODIFIER | c.4653+1530dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130601332 | |||||
| chr3:130601361
|
T | A | 3 | a0003c0010t0004g0222a0003c0062t0004g0216a0027c0041t0001g0021 | 3 | HG02647.hp1 HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4653+1551T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601361 | ||||||
| chr3:130601450
|
G | A | 70 | a0003c0010t0001g0181a0003c0013t0003g0262a0003c0013t0005g0044others(67): Show | 71 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(68): Show |
intron_variant | MODIFIER | c.4653+1640G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601450 | ||||||
| chr3:130601548
|
C | A | 4 | a0002c0002t0007g0228a0007c0018t0003g0015a0007c0018t0009g0257others(1): Show | 4 | HG00621.hp2 HG03831.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.4653+1738C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601548 | ||||||
| chr3:130601563
|
A | G | 13 | a0003c0071t0004g0200a0007c0017t0004g0210a0013c0028t0004g0199others(10): Show | 13 | HG01255.hp2 HG01891.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.4653+1753A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601563 | ||||||
| chr3:130601759
|
T | C | 3 | a0024c0031t0003g0016a0024c0031t0012g0025a0028c0042t0003g0118 | 3 | HG02622.hp1 HG02622.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.4653+1949T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601759 | ||||||
| chr3:130601871
|
C | T | 3 | a0007c0018t0007g0245a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4653+2061C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130601871 | ||||||
| chr3:130602004
|
G | A | 112 | a0003c0010t0001g0181a0003c0010t0004g0222a0003c0013t0003g0262others(109): Show | 113 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(110): Show |
intron_variant | MODIFIER | c.4653+2194G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602004 | ||||||
| chr3:130602171
|
A | C | 3 | a0003c0010t0004g0222a0003c0062t0004g0216a0027c0041t0001g0021 | 3 | HG02647.hp1 HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4653+2361A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602171 | ||||||
| chr3:130602182
|
T | A | 2 | a0019c0021t0003g0198a0019c0021t0005g0030 | 2 | HG00735.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.4653+2372T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602182 | ||||||
| chr3:130602190
|
C | T | 14 | a0004c0026t0001g0023a0004c0026t0004g0208a0008c0006t0003g0180others(11): Show | 14 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.4653+2380C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602190 | ||||||
| chr3:130602193
|
T | C | 7 | a0005c0003t0003g0014a0006c0007t0001g0191a0011c0008t0001g0154others(4): Show | 7 | HG00597.hp1 HG02015.hp1 HG02135.hp2 others(4): Show |
intron_variant | MODIFIER | c.4653+2383T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602193 | ||||||
| chr3:130602253
|
G | A | 82 | a0003c0010t0001g0181a0003c0010t0004g0222a0003c0013t0003g0262others(79): Show | 83 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(80): Show |
intron_variant | MODIFIER | c.4653+2443G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602253 | ||||||
| chr3:130602302
|
C | T | 17 | a0003c0023t0007g0211a0003c0061t0015g0196a0004c0026t0001g0023others(14): Show | 17 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(14): Show |
intron_variant | MODIFIER | c.4653+2492C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602302 | ||||||
| chr3:130602450
|
A | G | 3 | a0003c0013t0014g0031a0017c0019t0003g0127a0017c0019t0009g0258 | 3 | HG01361.hp1 HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4653+2640A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602450 | ||||||
| chr3:130602470
|
A | G | 1 | a0026c0035t0001g0002 | 2 | HG02970.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.4653+2660A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602470 | ||||||
| chr3:130602511
|
T | C | 1 | a0005c0003t0003g0014 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4653+2701T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602511 | ||||||
| chr3:130602593
|
C | T | 1 | a0007c0018t0007g0245 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4653+2783C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602593 | ||||||
| chr3:130602729
|
A | T | 2 | a0003c0023t0007g0211a0003c0061t0015g0196 | 2 | HG02486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4653+2919A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602729 | ||||||
| chr3:130602948
|
C | G | 1 | a0005c0003t0003g0014 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4653+3138C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130602948 | ||||||
| chr3:130603052
|
A | C | 2 | a0003c0070t0002g0035a0007c0072t0020g0190 | 2 | HG03486.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4653+3242A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130603052 | ||||||
| chr3:130603156
|
C | G | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4653+3346C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130603156 | ||||||
| chr3:130603550
|
G | C | 1 | a0004c0004t0001g0206 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.4654-3381G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130603550 | ||||||
| chr3:130603709
|
A | G | 64 | a0003c0010t0001g0181a0003c0023t0007g0211a0003c0027t0004g0213others(61): Show | 64 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(61): Show |
intron_variant | MODIFIER | c.4654-3222A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130603709 | ||||||
| chr3:130604227
|
C | A | 8 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(5): Show | 8 | HG02486.hp1 HG02615.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.4654-2704C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604227 | ||||||
| chr3:130604269
|
G | A | 2 | a0003c0061t0015g0196a0013c0075t0001g0185 | 2 | HG02602.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4654-2662G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604269 | ||||||
| chr3:130604270
|
G | A | 12 | a0001c0001t0001g0114a0001c0001t0002g0064a0001c0001t0002g0065others(9): Show | 12 | HG00621.hp2 HG02074.hp2 HG02132.hp2 others(9): Show |
intron_variant | MODIFIER | c.4654-2661G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604270 | ||||||
| chr3:130604426
|
C | T | 5 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(2): Show | 5 | HG03831.hp2 NA18966.hp2 NA18982.hp2 others(2): Show |
intron_variant | MODIFIER | c.4654-2505C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604426 | ||||||
| chr3:130604481
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4654-2450C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604481 | ||||||
| chr3:130604489
|
C | T | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4654-2442C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604489 | ||||||
| chr3:130604494
|
C | CA | 18 | a0001c0001t0001g0133a0001c0001t0001g0137a0001c0001t0002g0064others(15): Show | 18 | HG00639.hp2 HG01109.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.4654-2418dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130604494 | |||||
| chr3:130604494
|
CA | C | 10 | a0001c0001t0001g0146a0001c0001t0002g0056a0002c0002t0004g0202others(7): Show | 10 | HG01257.hp1 HG02615.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.4654-2418delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130604494 | |||||
| chr3:130604658
|
C | T | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 4 | HG03831.hp2 NA18966.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.4654-2273C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604658 | ||||||
| chr3:130604791
|
T | C | 2 | a0007c0032t0003g0128a0008c0006t0007g0227 | 2 | HG03516.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.4654-2140T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604791 | ||||||
| chr3:130604948
|
A | G | 2 | a0006c0007t0007g0092a0006c0007t0007g0093 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.4654-1983A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604948 | ||||||
| chr3:130604994
|
G | A | 4 | a0006c0007t0001g0191a0007c0040t0004g0234a0007c0040t0004g0235others(1): Show | 5 | HG02280.hp1 HG02970.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4654-1937G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130604994 | ||||||
| chr3:130605015
|
C | G | 15 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.4654-1916C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605015 | ||||||
| chr3:130605194
|
T | C | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4654-1737T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605194 | ||||||
| chr3:130605389
|
TGA | T | 42 | a0001c0001t0001g0188a0002c0002t0004g0202a0002c0002t0007g0201others(39): Show | 42 | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.4654-1539_4654-153 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130605389 | |||||
| chr3:130605391
|
A | T | 4 | a0003c0010t0004g0222a0003c0062t0004g0216a0027c0041t0001g0021others(1): Show | 4 | HG02622.hp2 HG02647.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.4654-1540A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605391 | ||||||
| chr3:130605439
|
A | G | 5 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4654-1492A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605439 | ||||||
| chr3:130605621
|
A | G | 4 | a0003c0023t0003g0022a0007c0032t0003g0128a0007c0032t0003g0129others(1): Show | 4 | HG02055.hp2 HG03041.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.4654-1310A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605621 | ||||||
| chr3:130605661
|
C | T | 3 | a0006c0007t0001g0191a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG02280.hp1 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4654-1270C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130605661 | ||||||
| chr3:130605775
|
C | CACA | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4654-1155_4654-115 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130605775 | |||||
| chr3:130606011
|
C | T | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4654-920C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606011 | ||||||
| chr3:130606088
|
T | C | 2 | a0020c0025t0002g0027a0020c0025t0002g0028 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.4654-843T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606088 | ||||||
| chr3:130606119
|
A | C | 17 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(14): Show | 17 | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.4654-812A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606119 | ||||||
| chr3:130606148
|
G | A | 3 | a0001c0001t0002g0163a0002c0002t0001g0095a0002c0002t0004g0220 | 3 | HG01361.hp2 HG01952.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.4654-783G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606148 | ||||||
| chr3:130606380
|
AG | A | 63 | a0003c0010t0001g0181a0003c0010t0003g0006a0003c0010t0003g0007others(60): Show | 64 | HG00280.hp1 HG00558.hp2 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.4654-550delG | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606380 | ||||||
| chr3:130606385
|
ATTCT | A | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 4 | HG03831.hp2 NA18966.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.4654-542_4654-539d others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr3 | 130606385 | |||||
| chr3:130606615
|
G | A | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.4654-316G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606615 | ||||||
| chr3:130606741
|
A | G | 1 | a0002c0002t0005g0042 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.4654-190A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606741 | ||||||
| chr3:130606760
|
T | G | 3 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030 | 3 | HG00735.hp2 HG02109.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.4654-171T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 20/36 | chr3 | 130606760 | ||||||
| chr3:130607320
|
A | G | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4689+354A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607320 | ||||||
| chr3:130607471
|
G | T | 1 | a0012c0009t0005g0054 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.4689+505G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607471 | ||||||
| chr3:130607527
|
A | T | 71 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(68): Show | 72 | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.4689+561A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607527 | ||||||
| chr3:130607585
|
G | A | 63 | a0003c0010t0001g0181a0003c0010t0003g0006a0003c0010t0003g0007others(60): Show | 64 | HG00280.hp1 HG00558.hp2 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.4689+619G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607585 | ||||||
| chr3:130607669
|
G | A | 146 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(143): Show | 148 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(145): Show |
intron_variant | MODIFIER | c.4689+703G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607669 | ||||||
| chr3:130607766
|
T | C | 1 | a0017c0019t0003g0127 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4689+800T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607766 | ||||||
| chr3:130607842
|
T | C | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4689+876T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607842 | ||||||
| chr3:130607977
|
G | A | 1 | a0003c0010t0001g0181 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4690-925G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130607977 | ||||||
| chr3:130608103
|
C | A | 5 | a0008c0006t0004g0230a0008c0006t0004g0231a0008c0006t0027g0232others(2): Show | 5 | HG01496.hp1 HG01891.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.4690-799C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130608103 | ||||||
| chr3:130608510
|
TATA | T | 7 | a0002c0002t0003g0134a0002c0002t0003g0162a0002c0002t0005g0070others(4): Show | 7 | HG01070.hp1 HG01074.hp1 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.4690-390_4690-388d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | 130608510 | |||||
| chr3:130608531
|
G | A | 3 | a0007c0032t0003g0128a0007c0032t0003g0129a0008c0006t0007g0227 | 3 | HG02055.hp2 HG03516.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.4690-371G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130608531 | ||||||
| chr3:130608666
|
A | G | 7 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(4): Show | 7 | HG02129.hp1 NA18949.hp1 NA18959.hp2 others(4): Show |
intron_variant | MODIFIER | c.4690-236A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | chr3 | 130608666 | ||||||
| chr3:130608763
|
C | CT | 92 | a0001c0001t0001g0135a0001c0001t0001g0139a0001c0001t0001g0183others(89): Show | 93 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.4690-112dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | 130608763 | |||||
| chr3:130608763
|
C | CTT | 18 | a0001c0001t0001g0121a0001c0001t0001g0195a0002c0002t0005g0076others(15): Show | 18 | HG00639.hp1 HG00642.hp1 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.4690-113_4690-112d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | 130608763 | |||||
| chr3:130608763
|
C | CTTT | 5 | a0014c0011t0001g0177a0014c0011t0003g0179a0019c0021t0003g0198others(2): Show | 5 | HG00735.hp2 HG02055.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4690-114_4690-112d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | 130608763 | |||||
| chr3:130608763
|
CT | C | 13 | a0001c0001t0002g0111a0003c0027t0004g0214a0004c0004t0002g0039others(10): Show | 14 | HG00408.hp1 HG02280.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.4690-112delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | 130608763 | |||||
| chr3:130608976
|
G | A | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.4752+12G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130608976 | ||||||
| chr3:130609059
|
G | A | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4752+95G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609059 | ||||||
| chr3:130609129
|
C | T | 87 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(84): Show | 88 | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.4752+165C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609129 | ||||||
| chr3:130609399
|
T | G | 150 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(147): Show | 152 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(149): Show |
intron_variant | MODIFIER | c.4752+435T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609399 | ||||||
| chr3:130609471
|
T | A | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 4 | HG03831.hp2 NA18966.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.4752+507T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609471 | ||||||
| chr3:130609663
|
A | G | 1 | a0007c0072t0020g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4752+699A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609663 | ||||||
| chr3:130609685
|
G | A | 1 | a0039c0064t0005g0085 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.4752+721G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609685 | ||||||
| chr3:130609760
|
A | T | 1 | a0001c0001t0024g0140 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.4752+796A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130609760 | ||||||
| chr3:130609952
|
C | CT | 10 | a0002c0002t0003g0171a0003c0010t0004g0222a0003c0023t0003g0022others(7): Show | 10 | HG01071.hp1 HG02055.hp2 HG02602.hp2 others(7): Show |
intron_variant | MODIFIER | c.4753-674dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130609952
|
C | CTT | 8 | a0002c0002t0004g0202a0002c0049t0003g0189a0006c0015t0004g0225others(5): Show | 8 | HG02486.hp1 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4753-675_4753-674d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130609952
|
C | CTTT | 5 | a0001c0001t0001g0188a0002c0002t0007g0201a0002c0002t0007g0228others(2): Show | 5 | HG02615.hp2 HG03831.hp2 NA18966.hp2 others(2): Show |
intron_variant | MODIFIER | c.4753-676_4753-674d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130609952
|
CT | C | 69 | a0001c0001t0001g0133a0001c0001t0001g0183a0001c0001t0002g0111others(66): Show | 70 | HG00558.hp2 HG00609.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.4753-674delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130609952
|
CTT | C | 48 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(45): Show | 49 | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.4753-675_4753-674d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130609952
|
CTTT | C | 7 | a0002c0002t0003g0116a0002c0002t0003g0134a0002c0002t0005g0070others(4): Show | 7 | HG01070.hp1 HG01074.hp1 HG01081.hp1 others(4): Show |
intron_variant | MODIFIER | c.4753-676_4753-674d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | 130609952 | |||||
| chr3:130610026
|
A | G | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4753-623A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130610026 | ||||||
| chr3:130610067
|
T | C | 146 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(143): Show | 148 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(145): Show |
intron_variant | MODIFIER | c.4753-582T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130610067 | ||||||
| chr3:130610159
|
T | C | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4753-490T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130610159 | ||||||
| chr3:130610367
|
G | A | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4753-282G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130610367 | ||||||
| chr3:130610460
|
T | C | 1 | a0009c0005t0001g0141 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4753-189T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | chr3 | 130610460 | ||||||
| chr3:130610999
|
A | C | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.4815+288A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130610999 | ||||||
| chr3:130611049
|
G | A | 12 | a0002c0002t0004g0202a0002c0002t0007g0201a0003c0061t0015g0196others(9): Show | 12 | HG02486.hp1 HG02572.hp2 HG02602.hp2 others(9): Show |
intron_variant | MODIFIER | c.4815+338G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611049 | ||||||
| chr3:130611205
|
A | ACTGCTCT others(11): Show |
2 | a0007c0040t0004g0234a0007c0040t0004g0235 | 2 | HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4815+496_4815+513d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130611205 | |||||
| chr3:130611291
|
G | A | 89 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(86): Show | 90 | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.4815+580G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611291 | ||||||
| chr3:130611334
|
A | G | 1 | a0004c0004t0009g0254 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4815+623A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611334 | ||||||
| chr3:130611338
|
C | G | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+627C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611338 | ||||||
| chr3:130611342
|
G | A | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+631G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611342 | ||||||
| chr3:130611359
|
C | G | 2 | a0002c0002t0004g0202a0002c0002t0007g0201 | 2 | HG02615.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.4815+648C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611359 | ||||||
| chr3:130611375
|
A | T | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4815+664A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611375 | ||||||
| chr3:130611438
|
C | T | 8 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(5): Show | 8 | HG01255.hp2 HG02055.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.4815+727C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611438 | ||||||
| chr3:130611560
|
A | G | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4815+849A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611560 | ||||||
| chr3:130611818
|
C | G | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4815+1107C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611818 | ||||||
| chr3:130611818
|
C | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4815+1107C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611818 | ||||||
| chr3:130611819
|
G | A | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+1108G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611819 | ||||||
| chr3:130611886
|
A | G | 10 | a0003c0061t0015g0196a0007c0017t0004g0210a0013c0075t0001g0185others(7): Show | 10 | HG01255.hp2 HG02055.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.4815+1175A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611886 | ||||||
| chr3:130611894
|
A | T | 1 | a0001c0001t0002g0111 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.4815+1183A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611894 | ||||||
| chr3:130611922
|
C | T | 14 | a0001c0001t0001g0188a0002c0002t0004g0202a0002c0002t0007g0201others(11): Show | 14 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4815+1211C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611922 | ||||||
| chr3:130611949
|
G | A | 1 | a0035c0058t0004g0240 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4815+1238G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611949 | ||||||
| chr3:130611956
|
T | C | 13 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(10): Show | 13 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.4815+1245T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130611956 | ||||||
| chr3:130612015
|
T | A | 1 | a0009c0005t0006g0058 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.4815+1304T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612015 | ||||||
| chr3:130612015
|
T | C | 5 | a0007c0017t0004g0210a0014c0011t0001g0177a0014c0011t0003g0178others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+1304T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612015 | ||||||
| chr3:130612072
|
A | T | 128 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(125): Show | 130 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(127): Show |
intron_variant | MODIFIER | c.4815+1361A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612072 | ||||||
| chr3:130612090
|
A | G | 10 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(7): Show | 10 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4815+1379A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612090 | ||||||
| chr3:130612214
|
T | G | 138 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(135): Show | 140 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(137): Show |
intron_variant | MODIFIER | c.4815+1503T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612214 | ||||||
| chr3:130612279
|
A | C | 1 | a0003c0013t0014g0031 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4815+1568A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612279 | ||||||
| chr3:130612549
|
C | T | 14 | a0001c0001t0001g0188a0002c0002t0004g0202a0002c0002t0007g0201others(11): Show | 14 | HG02486.hp1 HG02572.hp1 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.4815+1838C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612549 | ||||||
| chr3:130612585
|
C | G | 55 | a0003c0010t0001g0181a0003c0010t0003g0006a0003c0010t0003g0007others(52): Show | 55 | HG00280.hp1 HG00558.hp2 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.4815+1874C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612585 | ||||||
| chr3:130612625
|
C | T | 1 | a0007c0084t0002g0083 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.4815+1914C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130612625 | ||||||
| chr3:130613314
|
A | G | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4815+2603A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613314 | ||||||
| chr3:130613508
|
T | C | 1 | a0022c0024t0018g0097 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4815+2797T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613508 | ||||||
| chr3:130613572
|
A | G | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4815+2861A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613572 | ||||||
| chr3:130613602
|
G | A | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4815+2891G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613602 | ||||||
| chr3:130613696
|
T | G | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4815+2985T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613696 | ||||||
| chr3:130613832
|
A | G | 1 | a0008c0006t0003g0122 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4815+3121A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613832 | ||||||
| chr3:130613967
|
A | T | 9 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(6): Show | 10 | HG02486.hp1 HG02615.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.4815+3256A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613967 | ||||||
| chr3:130613973
|
T | A | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 4 | HG03831.hp2 NA18966.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.4815+3262T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130613973 | ||||||
| chr3:130614029
|
C | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4815+3318C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614029 | ||||||
| chr3:130614267
|
C | A | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.4815+3556C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614267 | ||||||
| chr3:130614357
|
G | A | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.4815+3646G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614357 | ||||||
| chr3:130614403
|
C | T | 5 | a0004c0022t0010g0249a0006c0015t0004g0225a0007c0072t0020g0190others(2): Show | 5 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.4815+3692C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614403 | ||||||
| chr3:130614556
|
C | A | 145 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(142): Show | 147 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
intron_variant | MODIFIER | c.4815+3845C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614556 | ||||||
| chr3:130614596
|
C | A | 3 | a0005c0003t0006g0051a0006c0007t0003g0130a0006c0007t0005g0052 | 3 | HG01257.hp1 HG01943.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.4815+3885C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614596 | ||||||
| chr3:130614680
|
C | T | 2 | a0007c0017t0004g0210a0013c0075t0001g0185 | 2 | HG02602.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4815+3969C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614680 | ||||||
| chr3:130614806
|
C | G | 1 | a0011c0008t0001g0012 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4815+4095C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614806 | ||||||
| chr3:130614843
|
G | C | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.4815+4132G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614843 | ||||||
| chr3:130614924
|
A | G | 130 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(127): Show | 131 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(128): Show |
intron_variant | MODIFIER | c.4815+4213A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130614924 | ||||||
| chr3:130615151
|
G | GTTTCAAA others(934): Show |
1 | a0001c0001t0024g0140 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.4815+4456_4815+445 others(945): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130615151 | |||||
| chr3:130615457
|
T | C | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4815+4746T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615457 | ||||||
| chr3:130615477
|
G | A | 1 | a0011c0008t0001g0012 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4815+4766G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615477 | ||||||
| chr3:130615657
|
G | T | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.4815+4946G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615657 | ||||||
| chr3:130615662
|
C | G | 1 | a0002c0002t0002g0084 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.4815+4951C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615662 | ||||||
| chr3:130615975
|
T | A | 1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4815+5264T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615975 | ||||||
| chr3:130615995
|
C | A | 2 | a0011c0008t0001g0154a0011c0008t0002g0049 | 2 | HG02135.hp2 NA18960.hp1 |
intron_variant | MODIFIER | c.4815+5284C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130615995 | ||||||
| chr3:130616049
|
G | A | 75 | a0001c0001t0001g0188a0002c0002t0001g0013a0002c0002t0001g0124others(72): Show | 77 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.4815+5338G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616049 | ||||||
| chr3:130616205
|
C | CTATAAAT others(6): Show |
3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4815+5494_4815+549 others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616205 | ||||||
| chr3:130616206
|
C | A | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4815+5495C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616206 | ||||||
| chr3:130616207
|
C | A | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4815+5496C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616207 | ||||||
| chr3:130616314
|
G | A | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4816-5507G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616314 | ||||||
| chr3:130616399
|
C | A | 6 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(3): Show | 6 | HG02129.hp1 NA18949.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.4816-5422C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616399 | ||||||
| chr3:130616413
|
A | G | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4816-5408A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616413 | ||||||
| chr3:130616447
|
T | G | 2 | a0036c0068t0002g0079a0037c0069t0002g0046 | 2 | NA18979.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.4816-5374T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616447 | ||||||
| chr3:130616463
|
G | A | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4816-5358G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616463 | ||||||
| chr3:130616531
|
A | G | 1 | a0002c0002t0003g0108 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.4816-5290A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616531 | ||||||
| chr3:130616552
|
G | GA | 220 | a0001c0001t0001g0011a0001c0001t0001g0121a0001c0001t0001g0133others(217): Show | 221 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(218): Show |
intron_variant | MODIFIER | c.4816-5251dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130616552 | |||||
| chr3:130616552
|
G | GAA | 6 | a0001c0001t0001g0114a0001c0001t0002g0064a0001c0001t0002g0066others(3): Show | 6 | HG00642.hp1 HG01192.hp1 HG02074.hp1 others(3): Show |
intron_variant | MODIFIER | c.4816-5252_4816-525 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130616552 | |||||
| chr3:130616552
|
GA | G | 16 | a0002c0002t0004g0202a0002c0002t0007g0201a0003c0062t0004g0216others(13): Show | 17 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.4816-5251delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130616552 | |||||
| chr3:130616552
|
GAA | G | 7 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(4): Show | 7 | HG02602.hp2 HG03579.hp2 HG03831.hp2 others(4): Show |
intron_variant | MODIFIER | c.4816-5252_4816-525 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130616552 | |||||
| chr3:130616942
|
T | G | 1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4816-4879T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616942 | ||||||
| chr3:130616978
|
C | G | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.4816-4843C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130616978 | ||||||
| chr3:130617267
|
C | G | 3 | a0003c0061t0015g0196a0007c0017t0004g0210a0013c0075t0001g0185 | 3 | HG02602.hp2 HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4816-4554C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617267 | ||||||
| chr3:130617339
|
T | G | 49 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(46): Show | 50 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.4816-4482T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617339 | ||||||
| chr3:130617421
|
C | T | 2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4816-4400C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617421 | ||||||
| chr3:130617854
|
C | T | 45 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(42): Show | 46 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.4816-3967C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617854 | ||||||
| chr3:130617932
|
T | A | 138 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(135): Show | 140 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(137): Show |
intron_variant | MODIFIER | c.4816-3889T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617932 | ||||||
| chr3:130617937
|
G | A | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4816-3884G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130617937 | ||||||
| chr3:130618124
|
A | G | 49 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(46): Show | 50 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.4816-3697A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618124 | ||||||
| chr3:130618270
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4816-3551C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618270 | ||||||
| chr3:130618353
|
A | T | 141 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(138): Show | 143 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(140): Show |
intron_variant | MODIFIER | c.4816-3468A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618353 | ||||||
| chr3:130618442
|
T | C | 2 | a0002c0002t0001g0166a0042c0080t0001g0020 | 2 | HG02809.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.4816-3379T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618442 | ||||||
| chr3:130618554
|
A | G | 147 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(144): Show | 149 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(146): Show |
intron_variant | MODIFIER | c.4816-3267A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618554 | ||||||
| chr3:130618605
|
A | G | 1 | a0003c0010t0004g0222 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4816-3216A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618605 | ||||||
| chr3:130618756
|
G | T | 14 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(11): Show | 15 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4816-3065G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130618756 | ||||||
| chr3:130619031
|
C | T | 4 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.4816-2790C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619031 | ||||||
| chr3:130619200
|
C | G | 1 | a0010c0038t0002g0077 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.4816-2621C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619200 | ||||||
| chr3:130619218
|
G | A | 1 | a0006c0007t0005g0052 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.4816-2603G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619218 | ||||||
| chr3:130619239
|
G | A | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4816-2582G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619239 | ||||||
| chr3:130619293
|
C | G | 124 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(121): Show | 125 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(122): Show |
intron_variant | MODIFIER | c.4816-2528C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619293 | ||||||
| chr3:130619470
|
C | T | 1 | a0001c0001t0001g0133 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.4816-2351C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619470 | ||||||
| chr3:130619550
|
T | A | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4816-2271T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619550 | ||||||
| chr3:130619632
|
C | A | 1 | a0038c0065t0002g0203 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4816-2189C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619632 | ||||||
| chr3:130619771
|
G | C | 2 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | HG02602.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.4816-2050G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619771 | ||||||
| chr3:130619893
|
T | C | 3 | a0006c0007t0001g0191a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG02280.hp1 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4816-1928T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619893 | ||||||
| chr3:130619982
|
T | G | 6 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(3): Show | 6 | HG02129.hp1 NA18949.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.4816-1839T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130619982 | ||||||
| chr3:130620119
|
GTT | G | 14 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(11): Show | 15 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4816-1694_4816-169 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | 130620119 | |||||
| chr3:130620124
|
T | G | 1 | a0005c0003t0010g0246 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4816-1697T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620124 | ||||||
| chr3:130620184
|
T | C | 8 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(5): Show | 9 | HG02486.hp1 HG02615.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.4816-1637T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620184 | ||||||
| chr3:130620294
|
C | T | 14 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(11): Show | 15 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4816-1527C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620294 | ||||||
| chr3:130620402
|
T | A | 144 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(141): Show | 146 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(143): Show |
intron_variant | MODIFIER | c.4816-1419T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620402 | ||||||
| chr3:130620454
|
C | T | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.4816-1367C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620454 | ||||||
| chr3:130620614
|
G | T | 1 | a0001c0001t0002g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4816-1207G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620614 | ||||||
| chr3:130620639
|
G | T | 1 | a0009c0005t0008g0204 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.4816-1182G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620639 | ||||||
| chr3:130620678
|
A | T | 1 | a0002c0002t0007g0228 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4816-1143A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620678 | ||||||
| chr3:130620791
|
G | A | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 139 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(136): Show |
intron_variant | MODIFIER | c.4816-1030G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620791 | ||||||
| chr3:130620795
|
T | A | 120 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(117): Show | 121 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(118): Show |
intron_variant | MODIFIER | c.4816-1026T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620795 | ||||||
| chr3:130620805
|
G | A | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4816-1016G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620805 | ||||||
| chr3:130620847
|
C | T | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4816-974C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130620847 | ||||||
| chr3:130621155
|
A | G | 4 | a0003c0060t0001g0150a0003c0071t0004g0200a0013c0028t0004g0199others(1): Show | 4 | HG01891.hp2 HG02280.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.4816-666A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621155 | ||||||
| chr3:130621169
|
G | A | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.4816-652G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621169 | ||||||
| chr3:130621299
|
A | G | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4816-522A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621299 | ||||||
| chr3:130621397
|
A | T | 3 | a0006c0007t0001g0191a0007c0040t0004g0234a0007c0040t0004g0235 | 3 | HG02280.hp1 HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4816-424A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621397 | ||||||
| chr3:130621410
|
A | G | 14 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(11): Show | 15 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4816-411A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621410 | ||||||
| chr3:130621452
|
C | G | 11 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(8): Show | 12 | HG02486.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.4816-369C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621452 | ||||||
| chr3:130621546
|
T | C | 1 | a0011c0008t0001g0173 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.4816-275T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621546 | ||||||
| chr3:130621594
|
C | T | 1 | a0030c0043t0003g0143 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.4816-227C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621594 | ||||||
| chr3:130621701
|
G | A | 14 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(11): Show | 15 | HG02486.hp1 HG02572.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4816-120G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | chr3 | 130621701 | ||||||
| chr3:130621884
|
G | A | 1 | a0002c0002t0004g0202 | 1 | HG02976.hp2 | splice_donor_variant&intron_variant | HIGH | c.4878+1G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130621884 | ||||||
| chr3:130621940
|
G | A | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4878+57G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130621940 | ||||||
| chr3:130622100
|
G | A | 34 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(31): Show | 34 | HG00558.hp2 HG00597.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.4878+217G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622100 | ||||||
| chr3:130622105
|
C | G | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4878+222C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622105 | ||||||
| chr3:130622111
|
A | G | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4878+228A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622111 | ||||||
| chr3:130622203
|
A | AC | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(55): Show | 59 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.4878+328dupC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr3 | 130622203 | |||||
| chr3:130622203
|
A | ACC | 15 | a0002c0002t0001g0095a0002c0002t0004g0219a0003c0010t0003g0007others(12): Show | 15 | HG00558.hp2 HG00597.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.4878+327_4878+328d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr3 | 130622203 | |||||
| chr3:130622211
|
CT | C | 32 | a0003c0010t0001g0181a0003c0013t0014g0031a0003c0023t0007g0211others(29): Show | 32 | HG00280.hp1 HG00642.hp1 HG00738.hp2 others(29): Show |
intron_variant | MODIFIER | c.4878+339delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr3 | 130622211 | |||||
| chr3:130622212
|
T | C | 90 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(87): Show | 92 | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.4878+329T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622212 | ||||||
| chr3:130622344
|
C | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4878+461C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622344 | ||||||
| chr3:130622466
|
A | G | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4878+583A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622466 | ||||||
| chr3:130622531
|
A | C | 1 | a0001c0001t0002g0111 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.4878+648A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622531 | ||||||
| chr3:130622666
|
G | A | 1 | a0005c0003t0001g0005 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.4878+783G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622666 | ||||||
| chr3:130622781
|
C | T | 1 | a0006c0007t0003g0260 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.4878+898C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622781 | ||||||
| chr3:130622842
|
G | A | 1 | a0006c0007t0003g0260 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.4878+959G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622842 | ||||||
| chr3:130622843
|
C | T | 121 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(118): Show | 122 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(119): Show |
intron_variant | MODIFIER | c.4878+960C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622843 | ||||||
| chr3:130622883
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4878+1000C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130622883 | ||||||
| chr3:130623177
|
G | A | 1 | a0001c0001t0002g0056 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.4878+1294G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623177 | ||||||
| chr3:130623248
|
G | A | 47 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(44): Show | 48 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.4878+1365G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623248 | ||||||
| chr3:130623254
|
T | C | 1 | a0001c0001t0001g0164 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.4878+1371T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623254 | ||||||
| chr3:130623529
|
C | T | 1 | a0012c0009t0003g0159 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.4878+1646C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623529 | ||||||
| chr3:130623562
|
T | TGA | 14 | a0003c0010t0001g0181a0004c0004t0002g0026a0006c0007t0002g0029others(11): Show | 14 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.4878+1681_4878+168 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr3 | 130623562 | |||||
| chr3:130623600
|
A | AG | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4878+1717_4878+171 others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623600 | ||||||
| chr3:130623601
|
A | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4878+1718A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623601 | ||||||
| chr3:130623676
|
C | T | 1 | a0002c0051t0007g0238 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4878+1793C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623676 | ||||||
| chr3:130623729
|
G | A | 1 | a0003c0010t0009g0251 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.4878+1846G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623729 | ||||||
| chr3:130623811
|
T | G | 3 | a0006c0015t0004g0225a0025c0073t0028g0218a0025c0074t0004g0215 | 3 | HG02486.hp1 HG03209.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4878+1928T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130623811 | ||||||
| chr3:130624010
|
T | C | 1 | a0016c0053t0008g0161 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.4878+2127T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624010 | ||||||
| chr3:130624066
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4878+2183C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624066 | ||||||
| chr3:130624240
|
C | G | 8 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(5): Show | 9 | HG02486.hp1 HG02615.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.4879-2245C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624240 | ||||||
| chr3:130624620
|
G | A | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.4879-1865G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624620 | ||||||
| chr3:130624784
|
A | G | 5 | a0003c0010t0004g0222a0007c0018t0007g0245a0008c0006t0003g0122others(2): Show | 5 | HG01109.hp2 HG01243.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.4879-1701A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624784 | ||||||
| chr3:130624816
|
C | T | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4879-1669C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624816 | ||||||
| chr3:130624827
|
A | G | 3 | a0003c0061t0015g0196a0007c0017t0004g0210a0013c0075t0001g0185 | 3 | HG02602.hp2 HG03579.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4879-1658A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624827 | ||||||
| chr3:130624830
|
C | T | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4879-1655C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624830 | ||||||
| chr3:130624906
|
C | A | 1 | a0001c0001t0001g0146 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.4879-1579C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624906 | ||||||
| chr3:130624921
|
T | A | 3 | a0011c0008t0001g0173a0017c0019t0003g0127a0017c0019t0009g0258 | 3 | HG01361.hp1 HG02145.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.4879-1564T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130624921 | ||||||
| chr3:130625282
|
T | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4879-1203T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625282 | ||||||
| chr3:130625604
|
C | T | 8 | a0002c0002t0004g0202a0002c0002t0007g0201a0006c0015t0004g0225others(5): Show | 9 | HG02486.hp1 HG02615.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.4879-881C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625604 | ||||||
| chr3:130625618
|
T | C | 5 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(2): Show | 6 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.4879-867T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625618 | ||||||
| chr3:130625693
|
GAT | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4879-791_4879-790d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625693 | ||||||
| chr3:130625804
|
A | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4879-681A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625804 | ||||||
| chr3:130625863
|
A | G | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4879-622A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625863 | ||||||
| chr3:130625901
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4879-584C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625901 | ||||||
| chr3:130625943
|
C | G | 1 | a0004c0004t0002g0039 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.4879-542C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625943 | ||||||
| chr3:130625966
|
T | C | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4879-519T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130625966 | ||||||
| chr3:130626449
|
A | G | 4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4879-36A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | 130626449 | ||||||
| chr3:130626615
|
G | A | 1 | a0007c0081t0013g0080 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.4941+68G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130626615 | ||||||
| chr3:130626652
|
A | T | 10 | a0001c0001t0005g0061a0004c0004t0001g0206a0004c0004t0003g0119others(7): Show | 10 | HG00597.hp2 NA18952.hp1 NA18968.hp1 others(7): Show |
intron_variant | MODIFIER | c.4941+105A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130626652 | ||||||
| chr3:130626886
|
A | C | 1 | a0006c0007t0003g0260 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.4941+339A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130626886 | ||||||
| chr3:130627214
|
C | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4942-105C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130627214 | ||||||
| chr3:130627297
|
T | C | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.4942-22T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130627297 | ||||||
| chr3:130627301
|
C | G | 1 | a0041c0082t0006g0089 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.4942-18C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 25/36 | chr3 | 130627301 | ||||||
| chr3:130627396
|
C | T | 1 | a0006c0007t0001g0123 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4992+27C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130627396 | ||||||
| chr3:130627665
|
C | T | 2 | a0003c0013t0005g0044a0003c0013t0005g0045 | 2 | NA18949.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.4992+296C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130627665 | ||||||
| chr3:130627735
|
A | G | 145 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(142): Show | 147 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
intron_variant | MODIFIER | c.4992+366A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130627735 | ||||||
| chr3:130627872
|
C | T | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4992+503C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130627872 | ||||||
| chr3:130628104
|
T | A | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4992+735T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628104 | ||||||
| chr3:130628115
|
C | A | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4992+746C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628115 | ||||||
| chr3:130628124
|
T | C | 1 | a0005c0059t0030g0221 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4992+755T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628124 | ||||||
| chr3:130628151
|
G | A | 145 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(142): Show | 147 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
intron_variant | MODIFIER | c.4992+782G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628151 | ||||||
| chr3:130628297
|
T | C | 5 | a0005c0003t0003g0014a0005c0003t0004g0229a0009c0005t0001g0141others(2): Show | 5 | HG01261.hp2 HG02622.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.4992+928T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628297 | ||||||
| chr3:130628362
|
A | G | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4992+993A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628362 | ||||||
| chr3:130628468
|
A | G | 8 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(5): Show | 9 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(6): Show |
intron_variant | MODIFIER | c.4992+1099A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628468 | ||||||
| chr3:130628579
|
A | T | 1 | a0002c0002t0003g0149 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.4992+1210A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628579 | ||||||
| chr3:130628608
|
A | T | 3 | a0002c0002t0004g0202a0002c0002t0007g0201a0026c0035t0001g0002 | 4 | HG02615.hp2 HG02970.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.4992+1239A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628608 | ||||||
| chr3:130628712
|
A | AAATCCAT others(8): Show |
1 | a0002c0002t0005g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.4992+1344_4992+135 others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130628712 | |||||
| chr3:130628722
|
TAAGATCG others(5535): Show |
T | 145 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(142): Show | 147 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
intron_variant | MODIFIER | c.4992+1365_4993-315 others(3): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130628722 | |||||
| chr3:130628873
|
C | T | 1 | a0001c0001t0004g0003 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.4992+1504C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628873 | ||||||
| chr3:130628988
|
G | A | 1 | a0047c0048t0003g0120 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4992+1619G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130628988 | ||||||
| chr3:130629106
|
G | A | 1 | a0010c0016t0001g0113 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4992+1737G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130629106 | ||||||
| chr3:130629573
|
G | A | 1 | a0004c0004t0002g0047 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.4992+2204G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130629573 | ||||||
| chr3:130629598
|
G | T | 3 | a0009c0005t0006g0057a0009c0005t0006g0058a0041c0082t0006g0089 | 3 | NA18960.hp2 NA18988.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.4992+2229G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130629598 | ||||||
| chr3:130629868
|
C | G | 2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4992+2499C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130629868 | ||||||
| chr3:130629931
|
C | T | 1 | a0001c0001t0004g0003 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.4992+2562C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130629931 | ||||||
| chr3:130630494
|
C | T | 1 | a0029c0085t0007g0239 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4992+3125C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130630494 | ||||||
| chr3:130630857
|
A | G | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4992+3488A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130630857 | ||||||
| chr3:130630887
|
G | A | 1 | a0004c0004t0001g0206 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.4992+3518G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130630887 | ||||||
| chr3:130631252
|
C | G | 3 | a0001c0001t0001g0133a0001c0001t0002g0087a0001c0001t0002g0109 | 3 | HG00639.hp2 HG03942.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4993-3338C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130631252 | ||||||
| chr3:130631305
|
C | T | 2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4993-3285C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130631305 | ||||||
| chr3:130631459
|
C | T | 3 | a0004c0004t0002g0047a0036c0068t0002g0079a0037c0069t0002g0046 | 3 | NA18964.hp1 NA18979.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.4993-3131C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130631459 | ||||||
| chr3:130631931
|
A | G | 2 | a0023c0039t0017g0101a0023c0039t0026g0112 | 2 | HG02080.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.4993-2659A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130631931 | ||||||
| chr3:130632015
|
C | G | 12 | a0004c0022t0010g0249a0012c0009t0003g0136a0012c0009t0003g0170others(9): Show | 12 | HG00408.hp2 HG01074.hp2 HG02129.hp2 others(9): Show |
intron_variant | MODIFIER | c.4993-2575C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130632015 | ||||||
| chr3:130632090
|
G | A | 1 | a0039c0064t0005g0085 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.4993-2500G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130632090 | ||||||
| chr3:130632291
|
C | T | 1 | a0007c0032t0003g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4993-2299C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130632291 | ||||||
| chr3:130633117
|
C | G | 1 | a0032c0079t0003g0160 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4993-1473C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130633117 | ||||||
| chr3:130633421
|
C | T | 21 | a0001c0001t0001g0114a0001c0001t0001g0135a0001c0001t0001g0137others(18): Show | 21 | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(18): Show |
intron_variant | MODIFIER | c.4993-1169C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130633421 | ||||||
| chr3:130633568
|
G | C | 1 | a0003c0023t0003g0022 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4993-1022G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130633568 | ||||||
| chr3:130634052
|
T | TA | 26 | a0001c0001t0001g0142a0001c0001t0002g0056a0001c0001t0002g0064others(23): Show | 26 | HG00621.hp1 HG00621.hp2 HG00642.hp2 others(23): Show |
intron_variant | MODIFIER | c.4993-514dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130634052 | |||||
| chr3:130634052
|
TA | T | 7 | a0004c0004t0009g0247a0004c0029t0002g0036a0009c0005t0002g0062others(4): Show | 7 | HG00738.hp1 HG01243.hp1 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.4993-514delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130634052 | |||||
| chr3:130634105
|
A | G | 22 | a0001c0001t0005g0061a0001c0056t0002g0059a0004c0004t0001g0172others(19): Show | 22 | HG00597.hp2 HG00609.hp1 HG02083.hp1 others(19): Show |
intron_variant | MODIFIER | c.4993-485A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634105 | ||||||
| chr3:130634210
|
A | T | 5 | a0001c0001t0021g0019a0004c0026t0004g0208a0010c0038t0002g0082others(2): Show | 5 | HG00738.hp1 HG03209.hp1 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.4993-380A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634210 | ||||||
| chr3:130634213
|
AT | A | 5 | a0001c0001t0002g0056a0007c0032t0003g0128a0007c0032t0003g0129others(2): Show | 5 | HG00408.hp1 HG02055.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.4993-376delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634213 | ||||||
| chr3:130634214
|
T | A | 27 | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0002g0111others(24): Show | 27 | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.4993-376T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634214 | ||||||
| chr3:130634218
|
T | A | 2 | a0012c0009t0005g0054a0031c0044t0002g0096 | 2 | HG00408.hp2 HG00621.hp1 |
intron_variant | MODIFIER | c.4993-372T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634218 | ||||||
| chr3:130634222
|
T | A | 5 | a0003c0062t0004g0216a0011c0008t0001g0173a0017c0019t0003g0127others(2): Show | 5 | HG01361.hp1 HG02145.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.4993-368T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634222 | ||||||
| chr3:130634242
|
T | A | 6 | a0010c0038t0002g0082a0013c0012t0008g0008a0015c0037t0006g0081others(3): Show | 6 | HG02074.hp1 HG02080.hp1 NA18983.hp2 others(3): Show |
intron_variant | MODIFIER | c.4993-348T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634242 | ||||||
| chr3:130634242
|
T | TA | 18 | a0001c0001t0001g0011a0001c0001t0001g0142a0001c0001t0002g0064others(15): Show | 18 | HG00621.hp1 HG00735.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.4993-324dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130634242 | |||||
| chr3:130634242
|
TA | T | 15 | a0002c0002t0002g0074a0002c0002t0003g0158a0002c0002t0003g0171others(12): Show | 15 | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.4993-324delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130634242 | |||||
| chr3:130634242
|
TAAAAA | T | 14 | a0001c0056t0002g0059a0004c0004t0001g0206a0004c0004t0002g0039others(11): Show | 14 | HG00597.hp2 HG00609.hp1 HG02129.hp2 others(11): Show |
intron_variant | MODIFIER | c.4993-328_4993-324d others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | 130634242 | |||||
| chr3:130634246
|
A | T | 7 | a0001c0001t0001g0121a0001c0001t0001g0137a0001c0001t0001g0138others(4): Show | 7 | HG01081.hp2 HG02602.hp1 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.4993-344A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634246 | ||||||
| chr3:130634247
|
A | T | 2 | a0004c0004t0010g0248a0036c0068t0002g0079 | 2 | NA18995.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.4993-343A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634247 | ||||||
| chr3:130634251
|
A | T | 3 | a0004c0004t0001g0206a0011c0008t0001g0154a0011c0008t0002g0049 | 3 | HG02135.hp2 NA18960.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.4993-339A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634251 | ||||||
| chr3:130634267
|
G | A | 1 | a0004c0004t0010g0250 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.4993-323G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634267 | ||||||
| chr3:130634306
|
G | A | 1 | a0001c0001t0001g0121 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4993-284G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634306 | ||||||
| chr3:130634363
|
T | C | 1 | a0002c0002t0005g0076 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.4993-227T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634363 | ||||||
| chr3:130634476
|
C | T | 5 | a0002c0002t0003g0134a0002c0002t0005g0070a0002c0002t0005g0076others(2): Show | 5 | HG01070.hp1 HG01074.hp1 HG01255.hp1 others(2): Show |
intron_variant | MODIFIER | c.4993-114C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634476 | ||||||
| chr3:130634566
|
A | T | 1 | a0034c0078t0004g0212 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4993-24A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | chr3 | 130634566 | ||||||
| chr3:130634741
|
C | T | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5028+116C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130634741 | ||||||
| chr3:130634938
|
AAAAGTAT others(11): Show |
A | 1 | a0011c0008t0001g0173 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.5028+315_5028+332d others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr3 | 130634938 | |||||
| chr3:130634989
|
C | T | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5028+364C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130634989 | ||||||
| chr3:130635013
|
T | C | 1 | a0002c0002t0005g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.5028+388T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635013 | ||||||
| chr3:130635078
|
T | C | 1 | a0001c0001t0004g0003 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5028+453T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635078 | ||||||
| chr3:130635096
|
G | A | 53 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(50): Show | 53 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.5028+471G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635096 | ||||||
| chr3:130635235
|
C | CA | 35 | a0001c0001t0001g0142a0001c0001t0001g0195a0001c0001t0002g0163others(32): Show | 35 | HG00558.hp2 HG00597.hp1 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.5029-455dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr3 | 130635235 | |||||
| chr3:130635245
|
T | A | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5029-454T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635245 | ||||||
| chr3:130635251
|
T | TAGAA | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5029-442_5029-439d others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr3 | 130635251 | |||||
| chr3:130635463
|
T | C | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5029-236T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635463 | ||||||
| chr3:130635496
|
C | G | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5029-203C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635496 | ||||||
| chr3:130635698
|
G | C | 1 | a0008c0034t0001g0102 | 1 | HG01109.hp2 | splice_acceptor_variant&intron_variant | HIGH | c.5029-1G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | chr3 | 130635698 | ||||||
| chr3:130635839
|
G | A | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+78G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130635839 | ||||||
| chr3:130635953
|
T | G | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+192T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130635953 | ||||||
| chr3:130635980
|
T | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+219T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130635980 | ||||||
| chr3:130636205
|
GGAGGTTA others(6): Show |
G | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+448_5091+460d others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636205 | |||||
| chr3:130636329
|
A | G | 1 | a0005c0003t0004g0224 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5091+568A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636329 | ||||||
| chr3:130636332
|
A | T | 1 | a0045c0050t0005g0067 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.5091+571A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636332 | ||||||
| chr3:130636564
|
A | G | 1 | a0005c0003t0002g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.5091+803A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636564 | ||||||
| chr3:130636712
|
ACTC | A | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5091+955_5091+957d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636712 | |||||
| chr3:130636756
|
TCCTCC | T | 3 | a0017c0019t0003g0127a0017c0019t0009g0258a0036c0068t0002g0079 | 3 | HG01361.hp1 HG02145.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.5091+1008_5091+101 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636756 | |||||
| chr3:130636780
|
T | A | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1019T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636780 | ||||||
| chr3:130636784
|
T | C | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5091+1023T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636784 | ||||||
| chr3:130636787
|
T | TCCCCTCC others(4): Show |
3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5091+1048_5091+105 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636787 | |||||
| chr3:130636787
|
TCCCCTCC others(4): Show |
T | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 5 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.5091+1048_5091+105 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636787 | |||||
| chr3:130636794
|
C | CCTCCCCG others(9): Show |
1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1034_5091+103 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636794 | |||||
| chr3:130636795
|
C | T | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5091+1034C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636795 | ||||||
| chr3:130636796
|
C | CCTCCCCT | 5 | a0002c0002t0004g0202a0005c0003t0001g0005a0007c0017t0001g0009others(2): Show | 6 | HG01069.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.5091+1035_5091+103 others(11): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636796 | ||||||
| chr3:130636797
|
T | C | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5091+1036T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636797 | ||||||
| chr3:130636798
|
C | CCCCCTCC others(10): Show |
8 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(5): Show | 8 | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.5091+1047_5091+104 others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636798 | |||||
| chr3:130636798
|
C | T | 1 | a0006c0015t0001g0205 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5091+1037C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636798 | ||||||
| chr3:130636800
|
C | CCCTCCCC others(5): Show |
90 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(87): Show | 90 | HG00558.hp2 HG00597.hp1 HG00735.hp2 others(87): Show |
intron_variant | MODIFIER | c.5091+1047_5091+104 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636800 | |||||
| chr3:130636800
|
C | T | 5 | a0002c0002t0004g0202a0005c0003t0001g0005a0007c0017t0001g0009others(2): Show | 6 | HG01069.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.5091+1039C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636800 | ||||||
| chr3:130636802
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1041C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636802 | ||||||
| chr3:130636803
|
T | TCCCCTTC others(186): Show |
1 | a0044c0052t0005g0060 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.5091+1047_5091+104 others(197): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636803 | |||||
| chr3:130636805
|
C | CCCTTCCT others(31): Show |
27 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(24): Show | 27 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.5091+1047_5091+104 others(42): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636805 | |||||
| chr3:130636805
|
C | CCCTTCCT others(212): Show |
1 | a0030c0043t0003g0143 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.5091+1047_5091+104 others(223): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636805 | |||||
| chr3:130636806
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1045C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636806 | ||||||
| chr3:130636807
|
C | CTTCCTCC others(5): Show |
2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.5091+1047_5091+104 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636807 | |||||
| chr3:130636807
|
C | CTTCCTCC others(5): Show |
1 | a0005c0003t0001g0157 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.5091+1047_5091+104 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636807 | |||||
| chr3:130636808
|
T | C | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1047T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636808 | ||||||
| chr3:130636809
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1048C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636809 | ||||||
| chr3:130636813
|
C | T | 29 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(26): Show | 29 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.5091+1052C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636813 | ||||||
| chr3:130636814
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1053T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636814 | ||||||
| chr3:130636820
|
T | TCCTCCTC others(5): Show |
1 | a0002c0002t0003g0149 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.5091+1062_5091+107 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636820 | |||||
| chr3:130636824
|
CCT | C | 28 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(25): Show | 28 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.5091+1065_5091+106 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636824 | |||||
| chr3:130636826
|
T | C | 96 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(93): Show | 97 | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(94): Show |
intron_variant | MODIFIER | c.5091+1065T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636826 | ||||||
| chr3:130636827
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1066C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636827 | ||||||
| chr3:130636828
|
C | CCTT | 95 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(92): Show | 96 | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(93): Show |
intron_variant | MODIFIER | c.5091+1068_5091+106 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636828 | |||||
| chr3:130636828
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1067C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636828 | ||||||
| chr3:130636832
|
C | T | 1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1071C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636832 | ||||||
| chr3:130636836
|
C | T | 96 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(93): Show | 97 | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(94): Show |
intron_variant | MODIFIER | c.5091+1075C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636836 | ||||||
| chr3:130636842
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1081T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636842 | ||||||
| chr3:130636845
|
C | CCCCTATC others(4): Show |
1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1084_5091+108 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636845 | ||||||
| chr3:130636845
|
C | CCCT | 28 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(25): Show | 28 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.5091+1084_5091+108 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636845 | ||||||
| chr3:130636849
|
T | C | 109 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(106): Show | 110 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(107): Show |
intron_variant | MODIFIER | c.5091+1088T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636849 | ||||||
| chr3:130636850
|
C | T | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.5091+1089C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636850 | ||||||
| chr3:130636851
|
C | CT | 96 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(93): Show | 97 | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(94): Show |
intron_variant | MODIFIER | c.5091+1090_5091+109 others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636851 | ||||||
| chr3:130636853
|
C | T | 13 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(10): Show | 13 | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(10): Show |
intron_variant | MODIFIER | c.5091+1092C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636853 | ||||||
| chr3:130636854
|
C | CCTT | 28 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(25): Show | 28 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.5091+1094_5091+109 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636854 | |||||
| chr3:130636854
|
C | T | 13 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(10): Show | 13 | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(10): Show |
intron_variant | MODIFIER | c.5091+1093C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636854 | ||||||
| chr3:130636857
|
T | C | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 5 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.5091+1096T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636857 | ||||||
| chr3:130636857
|
T | TCCCCTTC others(10): Show |
1 | a0003c0013t0014g0031 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636857 | |||||
| chr3:130636858
|
C | T | 4 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 5 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.5091+1097C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636858 | ||||||
| chr3:130636863
|
T | TCC | 72 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(69): Show | 73 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.5091+1103_5091+110 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCCTT others(43): Show |
1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(54): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(43): Show |
1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(54): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(53): Show |
1 | a0005c0003t0008g0184 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(64): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(32): Show |
1 | a0049c0057t0004g0091 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(43): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(42): Show |
45 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(42): Show | 45 | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.5091+1104_5091+110 others(53): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(52): Show |
1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(63): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(69): Show |
8 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(5): Show | 8 | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.5091+1104_5091+110 others(80): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(105): Show |
4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1104_5091+110 others(116): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636863
|
T | TCCCCTTC others(84): Show |
1 | a0009c0055t0001g0176 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5091+1104_5091+110 others(95): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636863 | |||||
| chr3:130636866
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1105T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636866 | ||||||
| chr3:130636867
|
T | C | 59 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(56): Show | 59 | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(56): Show |
intron_variant | MODIFIER | c.5091+1106T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636867 | ||||||
| chr3:130636868
|
C | T | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1107C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636868 | ||||||
| chr3:130636870
|
C | T | 78 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(75): Show | 79 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.5091+1109C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636870 | ||||||
| chr3:130636871
|
T | C | 136 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(133): Show | 137 | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(134): Show |
intron_variant | MODIFIER | c.5091+1110T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636871 | ||||||
| chr3:130636872
|
T | C | 80 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(77): Show | 81 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.5091+1111T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636872 | ||||||
| chr3:130636881
|
TC | T | 5 | a0007c0018t0003g0015a0008c0006t0001g0032a0019c0021t0003g0198others(2): Show | 5 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.5091+1125delC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636881 | |||||
| chr3:130636882
|
C | CCCCCCTT others(3): Show |
1 | a0003c0013t0014g0031 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5091+1125_5091+112 others(14): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636882 | |||||
| chr3:130636882
|
C | CCCCCTCC others(24): Show |
3 | a0006c0007t0003g0182a0007c0083t0005g0048a0010c0016t0004g0209 | 3 | HG02717.hp1 HG02976.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.5091+1146_5091+114 others(35): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636882 | |||||
| chr3:130636882
|
C | CCCCTTCC others(50): Show |
37 | a0002c0002t0004g0219a0003c0010t0001g0181a0003c0013t0003g0262others(34): Show | 37 | HG00738.hp2 HG01069.hp2 HG01109.hp2 others(34): Show |
intron_variant | MODIFIER | c.5091+1124_5091+112 others(61): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636882 | |||||
| chr3:130636882
|
C | CCCCTTCC others(75): Show |
1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5091+1124_5091+112 others(86): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636882 | |||||
| chr3:130636885
|
C | CTTCCCCT others(50): Show |
2 | a0002c0002t0004g0202a0026c0035t0001g0002 | 3 | HG02970.hp2 HG02976.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.5091+1124_5091+112 others(61): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636885 | ||||||
| chr3:130636886
|
C | CCT | 57 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(54): Show | 57 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.5091+1125_5091+112 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636886 | ||||||
| chr3:130636886
|
C | T | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+1125C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636886 | ||||||
| chr3:130636887
|
T | C | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+1126T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636887 | ||||||
| chr3:130636888
|
C | CCT | 57 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(54): Show | 57 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.5091+1128_5091+112 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636888 | |||||
| chr3:130636888
|
C | T | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.5091+1127C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636888 | ||||||
| chr3:130636898
|
T | C | 3 | a0001c0001t0002g0110a0004c0076t0002g0053a0011c0008t0001g0131 | 3 | HG00408.hp1 HG04199.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.5091+1137T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636898 | ||||||
| chr3:130636902
|
T | C | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.5091+1141T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636902 | ||||||
| chr3:130636902
|
T | TC | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1146dupC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636902 | |||||
| chr3:130636910
|
C | T | 4 | a0001c0001t0001g0121a0001c0001t0001g0183a0001c0001t0021g0019others(1): Show | 4 | HG02922.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1149C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636910 | ||||||
| chr3:130636912
|
T | TCCCCTCC others(16): Show |
100 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0133others(97): Show | 101 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(98): Show |
intron_variant | MODIFIER | c.5091+1167_5091+118 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636912 | |||||
| chr3:130636912
|
T | TCCCCTCC others(36): Show |
3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5091+1178_5091+117 others(47): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636912 | |||||
| chr3:130636912
|
T | TCCCCTCC others(39): Show |
2 | a0001c0001t0001g0188a0002c0049t0003g0189 | 2 | NA18982.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.5091+1189_5091+119 others(50): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636912 | |||||
| chr3:130636912
|
T | TCCCCTCC others(33): Show |
1 | a0004c0022t0010g0249 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.5091+1183_5091+118 others(44): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636912 | |||||
| chr3:130636918
|
C | CCCCCTCC others(15): Show |
2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5091+1162_5091+118 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636918 | |||||
| chr3:130636918
|
CCCCCT | C | 49 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(46): Show | 49 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.5091+1168_5091+117 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636918 | |||||
| chr3:130636923
|
T | TCCCCTCC others(17): Show |
1 | a0012c0009t0003g0170 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5091+1173_5091+119 others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636923 | |||||
| chr3:130636927
|
C | CT | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1167dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636927 | |||||
| chr3:130636928
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1167T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636928 | ||||||
| chr3:130636928
|
T | TTCCTC | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1167_5091+116 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636928 | ||||||
| chr3:130636928
|
TCCCCTTC others(4): Show |
T | 25 | a0002c0002t0004g0202a0003c0010t0001g0181a0003c0013t0003g0262others(22): Show | 26 | HG00738.hp2 HG01069.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.5091+1168_5091+117 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636928 | ||||||
| chr3:130636933
|
T | C | 53 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(50): Show | 53 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.5091+1172T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636933 | ||||||
| chr3:130636935
|
C | CCCCCTCC others(15): Show |
1 | a0002c0002t0005g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.5091+1189_5091+119 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636935 | |||||
| chr3:130636935
|
C | CCT | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1175_5091+117 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636935 | |||||
| chr3:130636939
|
C | CTCCCCCT others(10): Show |
2 | a0001c0001t0001g0135a0001c0056t0002g0059 | 2 | HG00609.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.5091+1189_5091+119 others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636939 | |||||
| chr3:130636939
|
C | T | 49 | a0002c0002t0001g0013a0002c0002t0002g0041a0002c0002t0002g0071others(46): Show | 49 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.5091+1178C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636939 | ||||||
| chr3:130636944
|
C | CGCCCTTT | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1183_5091+118 others(11): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636944 | ||||||
| chr3:130636945
|
C | G | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1184C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636945 | ||||||
| chr3:130636945
|
C | T | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1184C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636945 | ||||||
| chr3:130636946
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1185T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636946 | ||||||
| chr3:130636947
|
C | CCCCTCCC others(14): Show |
1 | a0009c0005t0004g0223 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5091+1189_5091+119 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636947 | |||||
| chr3:130636953
|
C | CT | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1192_5091+119 others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636953 | ||||||
| chr3:130636958
|
G | C | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1197G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636958 | ||||||
| chr3:130636958
|
G | T | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1197G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636958 | ||||||
| chr3:130636961
|
CTT | C | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1202_5091+120 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636961 | |||||
| chr3:130636964
|
T | C | 62 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(59): Show | 62 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.5091+1203T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636964 | ||||||
| chr3:130636965
|
G | C | 62 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(59): Show | 62 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.5091+1204G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636965 | ||||||
| chr3:130636968
|
C | T | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1207C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636968 | ||||||
| chr3:130636972
|
T | C | 5 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(2): Show | 6 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.5091+1211T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636972 | ||||||
| chr3:130636973
|
CT | C | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1213delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636973 | ||||||
| chr3:130636974
|
T | C | 5 | a0002c0002t0001g0124a0006c0015t0004g0225a0007c0072t0020g0190others(2): Show | 5 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.5091+1213T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636974 | ||||||
| chr3:130636976
|
T | C | 136 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(133): Show | 137 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(134): Show |
intron_variant | MODIFIER | c.5091+1215T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636976 | ||||||
| chr3:130636978
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1217T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636978 | ||||||
| chr3:130636979
|
C | A | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1218C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636979 | ||||||
| chr3:130636979
|
C | G | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1218C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636979 | ||||||
| chr3:130636982
|
C | T | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1221C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636982 | ||||||
| chr3:130636984
|
T | C | 1 | a0002c0002t0001g0124 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.5091+1223T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636984 | ||||||
| chr3:130636984
|
T | TTGTCCC | 58 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.5091+1223_5091+122 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130636984 | ||||||
| chr3:130636989
|
T | TCCCTCC | 4 | a0006c0015t0004g0225a0007c0072t0020g0190a0025c0073t0028g0218others(1): Show | 4 | HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1231_5091+123 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130636989 | |||||
| chr3:130637007
|
CTCCCCCT others(8): Show |
C | 1 | a0004c0022t0001g0010 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5091+1256_5091+127 others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637007 | |||||
| chr3:130637013
|
C | CTCCCCT | 72 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(69): Show | 73 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.5091+1255_5091+125 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637013 | |||||
| chr3:130637013
|
C | CTCCCCTT others(20): Show |
1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+1255_5091+125 others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637013 | |||||
| chr3:130637013
|
C | CTCCCTTT others(20): Show |
4 | a0008c0006t0001g0032a0019c0021t0003g0198a0019c0021t0005g0030others(1): Show | 4 | HG00735.hp2 HG02109.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1255_5091+125 others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637013 | |||||
| chr3:130637013
|
C | T | 59 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(56): Show | 59 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.5091+1252C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637013 | ||||||
| chr3:130637022
|
T | C | 136 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(133): Show | 137 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(134): Show |
intron_variant | MODIFIER | c.5091+1261T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637022 | ||||||
| chr3:130637028
|
C | T | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.5091+1267C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637028 | ||||||
| chr3:130637029
|
T | TCCCCTTC others(15): Show |
1 | a0014c0011t0003g0179 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.5091+1276_5091+129 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637029 | |||||
| chr3:130637032
|
C | T | 2 | a0003c0027t0004g0213a0003c0027t0004g0214 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.5091+1271C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637032 | ||||||
| chr3:130637061
|
TCCCTCC | T | 3 | a0017c0019t0003g0127a0017c0019t0009g0258a0036c0068t0002g0079 | 3 | HG01361.hp1 HG02145.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.5091+1315_5091+132 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637061 | |||||
| chr3:130637082
|
T | TTCTCTCC others(7): Show |
23 | a0001c0001t0005g0061a0001c0056t0002g0059a0004c0004t0001g0172others(20): Show | 23 | HG00597.hp2 HG00609.hp1 HG02015.hp1 others(20): Show |
intron_variant | MODIFIER | c.5091+1338_5091+135 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637082 | |||||
| chr3:130637082
|
TTCTCTCC others(7): Show |
T | 1 | a0005c0003t0006g0051 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.5091+1338_5091+135 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637082 | |||||
| chr3:130637093
|
CCCCTCTC others(1): Show |
C | 69 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(66): Show | 69 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(66): Show |
intron_variant | MODIFIER | c.5091+1338_5091+134 others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637093 | |||||
| chr3:130637096
|
C | CTCCCCCT others(5): Show |
35 | a0002c0002t0004g0219a0003c0010t0001g0181a0003c0013t0003g0262others(32): Show | 35 | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.5091+1337_5091+133 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637096 | |||||
| chr3:130637097
|
T | TCCCCCTC others(11): Show |
30 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(27): Show | 30 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.5091+1337_5091+133 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637097 | |||||
| chr3:130637101
|
T | C | 30 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(27): Show | 30 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.5091+1340T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637101 | ||||||
| chr3:130637101
|
T | TCCCTCC | 54 | a0002c0002t0004g0219a0003c0010t0001g0181a0003c0013t0003g0262others(51): Show | 55 | HG00408.hp2 HG00738.hp2 HG01074.hp2 others(52): Show |
intron_variant | MODIFIER | c.5091+1353_5091+135 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637101 | |||||
| chr3:130637101
|
T | TCCCTCCC others(11): Show |
3 | a0001c0001t0001g0188a0002c0049t0003g0189a0015c0036t0008g0001 | 4 | HG03490.hp2 HG03492.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1341_5091+135 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637101 | |||||
| chr3:130637101
|
T | TCCCTCCC others(25): Show |
1 | a0007c0018t0003g0015 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5091+1351_5091+135 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637101 | |||||
| chr3:130637101
|
T | TCCCTGC | 4 | a0003c0023t0003g0022a0007c0032t0003g0128a0007c0032t0003g0129others(1): Show | 4 | HG02055.hp2 HG03041.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1344_5091+134 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637101 | |||||
| chr3:130637102
|
C | G | 1 | a0006c0067t0029g0259 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.5091+1341C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637102 | ||||||
| chr3:130637105
|
T | C | 1 | a0007c0017t0004g0210 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5091+1344T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637105 | ||||||
| chr3:130637111
|
T | TCCCCCTC others(12): Show |
1 | a0002c0002t0007g0228 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5091+1358_5091+135 others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130637111 | |||||
| chr3:130637319
|
T | G | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+1558T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637319 | ||||||
| chr3:130637394
|
T | A | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+1633T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637394 | ||||||
| chr3:130637452
|
A | C | 4 | a0003c0060t0001g0150a0003c0071t0004g0200a0013c0028t0004g0199others(1): Show | 4 | HG01891.hp2 HG02280.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.5091+1691A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637452 | ||||||
| chr3:130637795
|
T | C | 1 | a0017c0019t0009g0258 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.5091+2034T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637795 | ||||||
| chr3:130637950
|
C | T | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+2189C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130637950 | ||||||
| chr3:130638136
|
T | TA | 7 | a0001c0001t0002g0107a0002c0002t0005g0042a0008c0006t0003g0122others(4): Show | 7 | HG00280.hp2 HG01192.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.5091+2388dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130638136 | |||||
| chr3:130638229
|
T | C | 54 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(51): Show | 54 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.5091+2468T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638229 | ||||||
| chr3:130638236
|
T | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2475T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638236 | ||||||
| chr3:130638404
|
A | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2643A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638404 | ||||||
| chr3:130638413
|
G | C | 153 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(150): Show | 155 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(152): Show |
intron_variant | MODIFIER | c.5091+2652G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638413 | ||||||
| chr3:130638453
|
T | A | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.5091+2692T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638453 | ||||||
| chr3:130638484
|
T | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2723T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638484 | ||||||
| chr3:130638584
|
C | T | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2823C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638584 | ||||||
| chr3:130638600
|
A | C | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5091+2839A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638600 | ||||||
| chr3:130638658
|
A | G | 1 | a0027c0041t0001g0021 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5091+2897A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638658 | ||||||
| chr3:130638667
|
G | A | 1 | a0002c0002t0005g0042 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.5091+2906G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638667 | ||||||
| chr3:130638699
|
A | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2938A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638699 | ||||||
| chr3:130638701
|
T | G | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2940T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638701 | ||||||
| chr3:130638703
|
G | T | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5091+2942G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638703 | ||||||
| chr3:130638705
|
TATTCCA | T | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2945_5092-294 others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130638705 | |||||
| chr3:130638725
|
G | A | 1 | a0003c0013t0014g0031 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5092-2927G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638725 | ||||||
| chr3:130638808
|
T | C | 3 | a0007c0018t0007g0245a0008c0006t0003g0122a0008c0034t0001g0102 | 3 | HG01109.hp2 HG01243.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.5092-2844T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638808 | ||||||
| chr3:130638956
|
C | T | 3 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5092-2696C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130638956 | ||||||
| chr3:130639064
|
G | A | 1 | a0013c0075t0001g0185 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5092-2588G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639064 | ||||||
| chr3:130639250
|
A | ATCTTC | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2398_5092-239 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130639250 | |||||
| chr3:130639265
|
A | G | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2387A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639265 | ||||||
| chr3:130639469
|
G | A | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2183G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639469 | ||||||
| chr3:130639514
|
C | A | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2138C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639514 | ||||||
| chr3:130639521
|
C | G | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2131C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639521 | ||||||
| chr3:130639576
|
C | T | 1 | a0029c0085t0007g0239 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5092-2076C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639576 | ||||||
| chr3:130639584
|
C | T | 3 | a0019c0021t0003g0198a0019c0021t0005g0030a0028c0042t0003g0118 | 3 | HG00735.hp2 HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.5092-2068C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639584 | ||||||
| chr3:130639623
|
T | C | 30 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(27): Show | 30 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.5092-2029T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639623 | ||||||
| chr3:130639651
|
T | C | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-2001T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639651 | ||||||
| chr3:130639660
|
C | T | 2 | a0002c0002t0003g0149a0002c0051t0007g0238 | 2 | HG01167.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.5092-1992C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639660 | ||||||
| chr3:130639661
|
G | A | 5 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(2): Show | 6 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.5092-1991G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639661 | ||||||
| chr3:130639689
|
C | CA | 34 | a0001c0001t0002g0087a0001c0001t0002g0110a0001c0001t0002g0111others(31): Show | 34 | HG00408.hp2 HG00597.hp2 HG00621.hp1 others(31): Show |
intron_variant | MODIFIER | c.5092-1942dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130639689 | |||||
| chr3:130639689
|
CA | C | 137 | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(134): Show | 139 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(136): Show |
intron_variant | MODIFIER | c.5092-1942delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130639689 | |||||
| chr3:130639710
|
A | G | 136 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(133): Show | 137 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(134): Show |
intron_variant | MODIFIER | c.5092-1942A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639710 | ||||||
| chr3:130639752
|
A | T | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5092-1900A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639752 | ||||||
| chr3:130639758
|
G | A | 137 | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
intron_variant | MODIFIER | c.5092-1894G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639758 | ||||||
| chr3:130639815
|
A | G | 30 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(27): Show | 30 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.5092-1837A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639815 | ||||||
| chr3:130639897
|
T | C | 5 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(2): Show | 6 | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.5092-1755T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639897 | ||||||
| chr3:130639976
|
C | T | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5092-1676C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130639976 | ||||||
| chr3:130640175
|
C | T | 2 | a0004c0004t0001g0172a0013c0012t0006g0086 | 2 | HG02083.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.5092-1477C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640175 | ||||||
| chr3:130640206
|
G | A | 1 | a0031c0044t0002g0096 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.5092-1446G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640206 | ||||||
| chr3:130640358
|
GT | G | 65 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(62): Show | 65 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.5092-1288delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130640358 | |||||
| chr3:130640360
|
T | C | 65 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(62): Show | 65 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.5092-1292T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640360 | ||||||
| chr3:130640465
|
C | T | 3 | a0007c0072t0020g0190a0025c0073t0028g0218a0025c0074t0004g0215 | 3 | HG02486.hp1 HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.5092-1187C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640465 | ||||||
| chr3:130640510
|
C | T | 5 | a0002c0002t0004g0202a0005c0003t0001g0005a0007c0017t0001g0009others(2): Show | 6 | HG01069.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.5092-1142C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640510 | ||||||
| chr3:130640573
|
A | G | 2 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.5092-1079A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640573 | ||||||
| chr3:130640788
|
C | T | 1 | a0029c0085t0007g0239 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5092-864C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640788 | ||||||
| chr3:130640807
|
T | C | 5 | a0002c0002t0004g0202a0005c0003t0001g0005a0007c0017t0001g0009others(2): Show | 6 | HG01069.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.5092-845T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130640807 | ||||||
| chr3:130641050
|
G | A | 1 | a0046c0054t0002g0055 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.5092-602G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641050 | ||||||
| chr3:130641163
|
T | C | 51 | a0001c0001t0001g0195a0002c0002t0007g0201a0002c0002t0022g0165others(48): Show | 52 | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.5092-489T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641163 | ||||||
| chr3:130641169
|
GTTGCCTA others(39): Show |
G | 6 | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(3): Show | 6 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.5092-476_5092-431d others(48): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130641169 | |||||
| chr3:130641176
|
A | G | 2 | a0012c0009t0005g0104a0012c0009t0005g0106 | 2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.5092-476A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641176 | ||||||
| chr3:130641179
|
G | A | 2 | a0012c0009t0005g0104a0012c0009t0005g0106 | 2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.5092-473G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641179 | ||||||
| chr3:130641182
|
G | A | 2 | a0012c0009t0005g0104a0012c0009t0005g0106 | 2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.5092-470G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641182 | ||||||
| chr3:130641182
|
GCAACAAA others(39): Show |
G | 1 | a0001c0001t0010g0255 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.5092-442_5092-397d others(48): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | 130641182 | |||||
| chr3:130641402
|
A | G | 1 | a0006c0007t0001g0194 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5092-250A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641402 | ||||||
| chr3:130641438
|
C | G | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.5092-214C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641438 | ||||||
| chr3:130641583
|
A | T | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5092-69A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | 130641583 | ||||||
| chr3:130641743
|
G | A | 5 | a0003c0061t0015g0196a0006c0015t0012g0033a0011c0008t0002g0034others(2): Show | 5 | HG02622.hp1 HG02647.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5154+29G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130641743 | ||||||
| chr3:130642002
|
A | C | 36 | a0002c0002t0004g0202a0003c0010t0001g0181a0003c0013t0003g0262others(33): Show | 37 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(34): Show |
intron_variant | MODIFIER | c.5154+288A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642002 | ||||||
| chr3:130642060
|
A | G | 73 | a0001c0001t0002g0110a0001c0001t0002g0163a0002c0002t0001g0013others(70): Show | 73 | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.5154+346A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642060 | ||||||
| chr3:130642204
|
G | A | 1 | a0009c0005t0008g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.5154+490G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642204 | ||||||
| chr3:130642237
|
G | A | 1 | a0001c0001t0002g0109 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.5154+523G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642237 | ||||||
| chr3:130642243
|
A | ATG | 12 | a0001c0001t0021g0019a0003c0060t0001g0150a0004c0004t0002g0047others(9): Show | 12 | HG01243.hp2 HG02280.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.5155-547_5155-546d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTG | 12 | a0001c0001t0001g0146a0003c0010t0001g0181a0003c0023t0007g0211others(9): Show | 12 | HG00735.hp2 HG01069.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.5155-549_5155-546d others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTGTG | 16 | a0003c0027t0004g0213a0003c0027t0004g0214a0006c0007t0003g0182others(13): Show | 16 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.5155-551_5155-546d others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTGTGT others(1): Show |
13 | a0002c0049t0003g0189a0003c0013t0003g0262a0003c0013t0005g0044others(10): Show | 13 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(10): Show |
intron_variant | MODIFIER | c.5155-553_5155-546d others(10): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTGTGT others(3): Show |
8 | a0002c0002t0007g0228a0003c0062t0004g0216a0006c0007t0003g0130others(5): Show | 8 | HG01257.hp1 HG01943.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.5155-555_5155-546d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTGTGT others(5): Show |
1 | a0006c0015t0004g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5155-557_5155-546d others(14): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | ATGTGTGT others(7): Show |
2 | a0003c0061t0015g0196a0026c0035t0001g0002 | 3 | HG02970.hp2 HG03579.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.5154+559_5155-546d others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
A | G | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5154+529A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642243 | ||||||
| chr3:130642243
|
ATG | A | 56 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0133others(53): Show | 56 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.5155-547_5155-546d others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
ATGTG | A | 10 | a0001c0001t0001g0188a0002c0002t0004g0219a0003c0013t0014g0031others(7): Show | 10 | HG01255.hp2 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.5155-549_5155-546d others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
ATGTGTG | A | 46 | a0003c0010t0004g0222a0004c0004t0002g0026a0004c0029t0004g0236others(43): Show | 47 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(44): Show |
intron_variant | MODIFIER | c.5155-551_5155-546d others(8): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
ATGTGTGT others(3): Show |
A | 7 | a0002c0002t0002g0071a0003c0010t0003g0006a0003c0010t0003g0007others(4): Show | 7 | HG02129.hp2 HG02630.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.5155-555_5155-546d others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
ATGTGTGT others(5): Show |
A | 53 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(50): Show | 53 | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(50): Show |
intron_variant | MODIFIER | c.5155-557_5155-546d others(14): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642243
|
ATGTGTGT others(9): Show |
A | 10 | a0001c0001t0001g0011a0001c0001t0004g0207a0004c0026t0001g0023others(7): Show | 10 | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.5154+557_5155-546d others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | 130642243 | |||||
| chr3:130642287
|
A | T | 1 | a0004c0004t0009g0254 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.5155-545A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642287 | ||||||
| chr3:130642424
|
G | A | 1 | a0006c0007t0002g0029 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5155-408G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642424 | ||||||
| chr3:130642435
|
C | T | 3 | a0005c0003t0006g0088a0005c0003t0006g0174a0016c0053t0008g0161 | 3 | HG00558.hp2 NA18946.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.5155-397C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642435 | ||||||
| chr3:130642464
|
A | G | 1 | a0013c0028t0011g0244 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5155-368A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642464 | ||||||
| chr3:130642602
|
C | T | 26 | a0003c0010t0001g0181a0003c0013t0003g0262a0003c0013t0005g0044others(23): Show | 26 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.5155-230C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | chr3 | 130642602 | ||||||
| chr3:130643082
|
A | C | 1 | a0001c0001t0001g0137 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.5227+59A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643082 | ||||||
| chr3:130643086
|
A | C | 95 | a0002c0002t0004g0202a0003c0010t0001g0181a0003c0010t0004g0222others(92): Show | 97 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(94): Show |
intron_variant | MODIFIER | c.5227+63A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643086 | ||||||
| chr3:130643087
|
C | T | 95 | a0002c0002t0004g0202a0003c0010t0001g0181a0003c0010t0004g0222others(92): Show | 97 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(94): Show |
intron_variant | MODIFIER | c.5227+64C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643087 | ||||||
| chr3:130643484
|
T | C | 1 | a0009c0005t0008g0167 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.5227+461T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643484 | ||||||
| chr3:130643621
|
C | A | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5227+598C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643621 | ||||||
| chr3:130643972
|
G | A | 182 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(179): Show | 184 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(181): Show |
intron_variant | MODIFIER | c.5227+949G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130643972 | ||||||
| chr3:130644102
|
G | T | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5228-889G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130644102 | ||||||
| chr3:130644192
|
T | G | 1 | a0007c0083t0005g0048 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.5228-799T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130644192 | ||||||
| chr3:130644449
|
A | C | 94 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(91): Show | 96 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(93): Show |
intron_variant | MODIFIER | c.5228-542A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130644449 | ||||||
| chr3:130644604
|
C | T | 168 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(165): Show | 170 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(167): Show |
intron_variant | MODIFIER | c.5228-387C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130644604 | ||||||
| chr3:130644873
|
C | T | 3 | a0007c0072t0020g0190a0008c0034t0001g0102a0018c0033t0001g0193 | 3 | HG01109.hp2 HG02572.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.5228-118C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 31/36 | chr3 | 130644873 | ||||||
| chr3:130645113
|
G | A | 2 | a0003c0010t0004g0222a0013c0028t0004g0199 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5239+111G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130645113 | ||||||
| chr3:130645227
|
TAAA | T | 93 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.5239+229_5239+231d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr3 | 130645227 | |||||
| chr3:130645327
|
C | G | 1 | a0009c0055t0001g0176 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5239+325C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130645327 | ||||||
| chr3:130645583
|
T | C | 1 | a0008c0006t0007g0227 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5239+581T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130645583 | ||||||
| chr3:130645679
|
T | C | 91 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(88): Show | 93 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(90): Show |
intron_variant | MODIFIER | c.5239+677T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130645679 | ||||||
| chr3:130645849
|
T | C | 48 | a0003c0010t0004g0222a0005c0003t0001g0005a0005c0003t0001g0151others(45): Show | 49 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.5239+847T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130645849 | ||||||
| chr3:130646080
|
T | C | 5 | a0002c0002t0007g0228a0002c0049t0003g0189a0006c0007t0003g0130others(2): Show | 5 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.5239+1078T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646080 | ||||||
| chr3:130646209
|
G | C | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5239+1207G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646209 | ||||||
| chr3:130646304
|
G | A | 3 | a0022c0024t0005g0037a0022c0024t0018g0097a0045c0050t0005g0067 | 3 | HG00597.hp2 NA18968.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.5239+1302G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646304 | ||||||
| chr3:130646341
|
G | A | 1 | a0009c0005t0006g0057 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.5239+1339G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646341 | ||||||
| chr3:130646549
|
G | A | 1 | a0006c0063t0023g0168 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5239+1547G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646549 | ||||||
| chr3:130646941
|
T | C | 17 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(14): Show | 17 | HG01891.hp2 HG02280.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.5239+1939T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130646941 | ||||||
| chr3:130647159
|
T | C | 1 | a0006c0007t0003g0182 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.5240-1910T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647159 | ||||||
| chr3:130647343
|
C | T | 49 | a0001c0001t0001g0114a0003c0010t0004g0222a0005c0003t0001g0005others(46): Show | 50 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(47): Show |
intron_variant | MODIFIER | c.5240-1726C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647343 | ||||||
| chr3:130647425
|
A | G | 1 | a0039c0064t0005g0085 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.5240-1644A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647425 | ||||||
| chr3:130647548
|
G | A | 1 | a0001c0001t0002g0107 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.5240-1521G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647548 | ||||||
| chr3:130647846
|
G | A | 9 | a0003c0023t0007g0211a0006c0007t0003g0182a0007c0032t0003g0128others(6): Show | 9 | HG00735.hp2 HG02055.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.5240-1223G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647846 | ||||||
| chr3:130647928
|
T | C | 1 | a0031c0044t0002g0096 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.5240-1141T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130647928 | ||||||
| chr3:130648109
|
G | A | 1 | a0004c0029t0004g0236 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.5240-960G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130648109 | ||||||
| chr3:130648328
|
A | G | 1 | a0002c0002t0001g0166 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5240-741A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130648328 | ||||||
| chr3:130648478
|
C | CTGAA | 4 | a0003c0070t0002g0035a0007c0072t0020g0190a0008c0034t0001g0102others(1): Show | 4 | HG01109.hp2 HG02572.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.5240-588_5240-587i others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr3 | 130648478 | |||||
| chr3:130648543
|
C | T | 1 | a0002c0002t0003g0108 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.5240-526C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130648543 | ||||||
| chr3:130648597
|
T | C | 1 | a0005c0059t0030g0221 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5240-472T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130648597 | ||||||
| chr3:130648819
|
A | T | 1 | a0006c0015t0012g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5240-250A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130648819 | ||||||
| chr3:130649016
|
C | CT | 53 | a0003c0010t0003g0261a0003c0010t0004g0222a0003c0070t0002g0035others(50): Show | 54 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.5240-40dupT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr3 | 130649016 | |||||
| chr3:130649016
|
C | CTT | 17 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(14): Show | 17 | HG01891.hp2 HG02280.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.5240-41_5240-40dup others(2): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr3 | 130649016 | |||||
| chr3:130649060
|
G | C | 4 | a0001c0001t0001g0121a0001c0001t0001g0183a0001c0001t0021g0019others(1): Show | 4 | HG02922.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5240-9G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | chr3 | 130649060 | ||||||
| chr3:130649758
|
CTAT | C | 64 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(61): Show | 64 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.5733+201_5733+203d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130649758 | |||||
| chr3:130649952
|
G | A | 17 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(14): Show | 17 | HG01891.hp2 HG02280.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.5733+390G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130649952 | ||||||
| chr3:130650281
|
G | A | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5733+719G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650281 | ||||||
| chr3:130650287
|
G | T | 93 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.5733+725G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650287 | ||||||
| chr3:130650288
|
G | T | 94 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(91): Show | 96 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(93): Show |
intron_variant | MODIFIER | c.5733+726G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650288 | ||||||
| chr3:130650292
|
G | A | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5733+730G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650292 | ||||||
| chr3:130650480
|
G | A | 2 | a0003c0010t0004g0222a0013c0028t0004g0199 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5733+918G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650480 | ||||||
| chr3:130650484
|
G | A | 1 | a0002c0002t0004g0202 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5733+922G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650484 | ||||||
| chr3:130650498
|
G | A | 8 | a0002c0002t0004g0202a0003c0013t0014g0031a0007c0017t0004g0210others(5): Show | 9 | HG02486.hp1 HG02970.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.5733+936G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650498 | ||||||
| chr3:130650610
|
C | CA | 6 | a0002c0002t0007g0228a0002c0049t0003g0189a0002c0051t0007g0238others(3): Show | 6 | HG01257.hp1 HG01496.hp2 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.5733+1059dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130650610 | |||||
| chr3:130650610
|
C | CAA | 135 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(132): Show | 137 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(134): Show |
intron_variant | MODIFIER | c.5733+1058_5733+105 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130650610 | |||||
| chr3:130650610
|
C | CAAA | 11 | a0002c0002t0002g0074a0003c0010t0009g0251a0003c0062t0004g0216others(8): Show | 11 | HG01361.hp1 HG01891.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.5733+1057_5733+105 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130650610 | |||||
| chr3:130650753
|
C | CTCTTA | 93 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.5733+1191_5733+119 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650753 | ||||||
| chr3:130650754
|
A | T | 93 | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
intron_variant | MODIFIER | c.5733+1192A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650754 | ||||||
| chr3:130650785
|
A | T | 1 | a0001c0001t0010g0255 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.5733+1223A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650785 | ||||||
| chr3:130650898
|
C | G | 1 | a0002c0002t0002g0074 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.5733+1336C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130650898 | ||||||
| chr3:130651065
|
C | T | 5 | a0001c0001t0005g0061a0004c0004t0003g0119a0004c0004t0005g0043others(2): Show | 5 | NA18952.hp1 NA18971.hp1 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.5733+1503C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130651065 | ||||||
| chr3:130651155
|
C | T | 1 | a0011c0008t0002g0049 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.5733+1593C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130651155 | ||||||
| chr3:130651255
|
G | A | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5733+1693G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130651255 | ||||||
| chr3:130651425
|
C | CA | 60 | a0001c0001t0001g0114a0001c0001t0002g0109a0001c0001t0002g0163others(57): Show | 61 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.5733+1886dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130651425 | |||||
| chr3:130651425
|
C | CAA | 8 | a0005c0003t0001g0157a0005c0003t0011g0237a0005c0059t0030g0221others(5): Show | 8 | HG00673.hp2 HG01981.hp1 HG02132.hp1 others(5): Show |
intron_variant | MODIFIER | c.5733+1885_5733+188 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130651425 | |||||
| chr3:130651425
|
CA | C | 61 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(58): Show | 61 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.5733+1886delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130651425 | |||||
| chr3:130651425
|
CAA | C | 6 | a0002c0002t0007g0228a0002c0002t0022g0165a0002c0049t0003g0189others(3): Show | 6 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.5733+1885_5733+188 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130651425 | |||||
| chr3:130651904
|
A | G | 13 | a0002c0002t0007g0201a0012c0009t0003g0136a0012c0009t0003g0147others(10): Show | 13 | HG00408.hp2 HG00738.hp1 HG01074.hp2 others(10): Show |
intron_variant | MODIFIER | c.5733+2342A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130651904 | ||||||
| chr3:130652107
|
A | G | 8 | a0002c0002t0004g0202a0003c0013t0014g0031a0007c0017t0004g0210others(5): Show | 9 | HG02486.hp1 HG02970.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.5733+2545A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652107 | ||||||
| chr3:130652158
|
C | G | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5733+2596C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652158 | ||||||
| chr3:130652344
|
C | T | 1 | a0025c0074t0004g0215 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.5733+2782C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652344 | ||||||
| chr3:130652383
|
C | G | 2 | a0020c0025t0002g0027a0020c0025t0002g0028 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.5733+2821C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652383 | ||||||
| chr3:130652885
|
T | C | 1 | a0015c0037t0008g0169 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.5733+3323T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652885 | ||||||
| chr3:130652904
|
G | A | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5733+3342G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652904 | ||||||
| chr3:130652943
|
C | T | 10 | a0001c0001t0005g0061a0002c0002t0007g0228a0002c0049t0003g0189others(7): Show | 10 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(7): Show |
intron_variant | MODIFIER | c.5733+3381C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652943 | ||||||
| chr3:130652958
|
T | G | 2 | a0003c0010t0004g0222a0013c0028t0004g0199 | 2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5733+3396T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130652958 | ||||||
| chr3:130653068
|
C | A | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5733+3506C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130653068 | ||||||
| chr3:130653147
|
A | G | 5 | a0002c0002t0004g0219a0014c0011t0001g0177a0014c0011t0003g0178others(2): Show | 5 | HG01255.hp2 HG02055.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.5733+3585A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130653147 | ||||||
| chr3:130653283
|
C | T | 1 | a0041c0082t0006g0089 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.5733+3721C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130653283 | ||||||
| chr3:130653632
|
T | A | 18 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(15): Show | 18 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(15): Show |
intron_variant | MODIFIER | c.5733+4070T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130653632 | ||||||
| chr3:130653852
|
G | A | 13 | a0003c0013t0003g0262a0003c0013t0005g0044a0003c0013t0005g0045others(10): Show | 13 | HG01891.hp2 HG02647.hp1 HG02922.hp2 others(10): Show |
intron_variant | MODIFIER | c.5733+4290G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130653852 | ||||||
| chr3:130654109
|
T | C | 137 | a0001c0001t0005g0061a0002c0002t0001g0013a0002c0002t0001g0095others(134): Show | 138 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(135): Show |
intron_variant | MODIFIER | c.5733+4547T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130654109 | ||||||
| chr3:130654297
|
AT | A | 64 | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(61): Show | 64 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.5734-4370delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130654297 | |||||
| chr3:130654362
|
C | A | 1 | a0024c0031t0003g0016 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5734-4314C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130654362 | ||||||
| chr3:130654385
|
C | T | 96 | a0001c0001t0005g0061a0002c0002t0001g0013a0002c0002t0001g0124others(93): Show | 96 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.5734-4291C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130654385 | ||||||
| chr3:130654395
|
G | A | 7 | a0003c0013t0014g0031a0007c0017t0001g0009a0007c0017t0004g0210others(4): Show | 7 | HG02486.hp1 HG03098.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.5734-4281G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130654395 | ||||||
| chr3:130654619
|
C | T | 3 | a0014c0011t0003g0178a0014c0011t0003g0179a0024c0031t0003g0016 | 3 | HG01255.hp2 HG02055.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.5734-4057C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130654619 | ||||||
| chr3:130655234
|
C | T | 20 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(17): Show | 20 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.5734-3442C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655234 | ||||||
| chr3:130655386
|
G | T | 1 | a0007c0018t0009g0257 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.5734-3290G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655386 | ||||||
| chr3:130655555
|
G | A | 1 | a0004c0004t0010g0248 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.5734-3121G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655555 | ||||||
| chr3:130655619
|
G | A | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5734-3057G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655619 | ||||||
| chr3:130655623
|
G | T | 3 | a0006c0015t0012g0033a0018c0033t0025g0192a0024c0031t0012g0025 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5734-3053G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655623 | ||||||
| chr3:130655650
|
C | G | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5734-3026C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655650 | ||||||
| chr3:130655848
|
C | G | 1 | a0004c0004t0003g0119 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.5734-2828C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130655848 | ||||||
| chr3:130656146
|
C | T | 21 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(18): Show | 21 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.5734-2530C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656146 | ||||||
| chr3:130656238
|
C | G | 22 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(19): Show | 22 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.5734-2438C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656238 | ||||||
| chr3:130656247
|
G | A | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5734-2429G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656247 | ||||||
| chr3:130656335
|
G | A | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.5734-2341G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656335 | ||||||
| chr3:130656361
|
AGTGGGTA others(64): Show |
A | 1 | a0002c0002t0005g0042 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.5734-2293_5734-222 others(75): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130656361 | |||||
| chr3:130656533
|
T | C | 5 | a0002c0002t0004g0219a0014c0011t0001g0177a0014c0011t0004g0217others(2): Show | 5 | HG02109.hp2 HG02572.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.5734-2143T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656533 | ||||||
| chr3:130656573
|
A | G | 21 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(18): Show | 21 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.5734-2103A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656573 | ||||||
| chr3:130656631
|
G | A | 3 | a0002c0002t0001g0166a0003c0071t0004g0200a0008c0034t0004g0233 | 3 | HG01891.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.5734-2045G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656631 | ||||||
| chr3:130656675
|
T | C | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5734-2001T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656675 | ||||||
| chr3:130656718
|
T | C | 3 | a0006c0015t0012g0033a0018c0033t0025g0192a0024c0031t0012g0025 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5734-1958T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656718 | ||||||
| chr3:130656778
|
G | A | 3 | a0003c0027t0004g0213a0003c0027t0004g0214a0003c0060t0001g0150 | 3 | HG02280.hp2 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.5734-1898G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656778 | ||||||
| chr3:130656800
|
G | A | 1 | a0003c0070t0002g0035 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.5734-1876G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656800 | ||||||
| chr3:130656873
|
C | T | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5734-1803C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656873 | ||||||
| chr3:130656916
|
G | C | 11 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(8): Show | 11 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(8): Show |
intron_variant | MODIFIER | c.5734-1760G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130656916 | ||||||
| chr3:130657128
|
G | A | 5 | a0001c0001t0005g0061a0004c0004t0003g0119a0004c0004t0005g0043others(2): Show | 5 | NA18952.hp1 NA18971.hp1 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.5734-1548G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657128 | ||||||
| chr3:130657160
|
C | T | 20 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(17): Show | 20 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.5734-1516C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657160 | ||||||
| chr3:130657178
|
G | A | 1 | a0005c0003t0010g0246 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5734-1498G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657178 | ||||||
| chr3:130657182
|
G | A | 4 | a0008c0006t0003g0180a0014c0011t0003g0178a0014c0011t0003g0179others(1): Show | 4 | HG01255.hp2 HG02055.hp1 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.5734-1494G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657182 | ||||||
| chr3:130657472
|
G | A | 2 | a0011c0008t0001g0125a0011c0008t0001g0126 | 2 | HG00642.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.5734-1204G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657472 | ||||||
| chr3:130657473
|
G | A | 1 | a0006c0007t0003g0182 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.5734-1203G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657473 | ||||||
| chr3:130657574
|
AAAC | A | 13 | a0003c0010t0001g0181a0006c0007t0001g0191a0006c0007t0001g0194others(10): Show | 13 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.5734-1080_5734-107 others(7): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | 130657574 | |||||
| chr3:130657589
|
C | G | 9 | a0003c0010t0001g0181a0006c0007t0001g0194a0006c0007t0002g0029others(6): Show | 9 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.5734-1087C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657589 | ||||||
| chr3:130657793
|
G | A | 3 | a0001c0001t0007g0090a0002c0002t0003g0158a0002c0002t0003g0171 | 3 | HG01069.hp1 HG01071.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.5734-883G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657793 | ||||||
| chr3:130657851
|
A | G | 12 | a0012c0009t0003g0136a0012c0009t0003g0147a0012c0009t0003g0159others(9): Show | 12 | HG00408.hp2 HG00738.hp1 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.5734-825A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130657851 | ||||||
| chr3:130658190
|
A | G | 135 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(132): Show | 136 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(133): Show |
intron_variant | MODIFIER | c.5734-486A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130658190 | ||||||
| chr3:130658507
|
A | G | 2 | a0002c0002t0004g0202a0026c0035t0001g0002 | 3 | HG02970.hp2 HG02976.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.5734-169A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130658507 | ||||||
| chr3:130658521
|
A | C | 1 | a0012c0009t0003g0136 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5734-155A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130658521 | ||||||
| chr3:130658661
|
T | C | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.5734-15T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130658661 | ||||||
| chr3:130658665
|
G | C | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5734-11G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | 130658665 | ||||||
| chr3:130659238
|
T | C | 73 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(70): Show | 73 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.5830+466T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659238 | ||||||
| chr3:130659304
|
C | T | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5830+532C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659304 | ||||||
| chr3:130659369
|
A | G | 53 | a0001c0001t0002g0110a0003c0010t0004g0222a0003c0027t0004g0213others(50): Show | 54 | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.5830+597A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659369 | ||||||
| chr3:130659611
|
A | T | 135 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(132): Show | 136 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(133): Show |
intron_variant | MODIFIER | c.5830+839A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659611 | ||||||
| chr3:130659685
|
T | C | 20 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(17): Show | 20 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.5830+913T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659685 | ||||||
| chr3:130659954
|
G | C | 5 | a0003c0070t0002g0035a0006c0015t0012g0033a0018c0033t0001g0193others(2): Show | 5 | HG02572.hp2 HG02622.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.5830+1182G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130659954 | ||||||
| chr3:130660031
|
T | C | 1 | a0018c0033t0001g0193 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.5830+1259T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660031 | ||||||
| chr3:130660471
|
C | A | 134 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(131): Show | 135 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(132): Show |
intron_variant | MODIFIER | c.5831-1166C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660471 | ||||||
| chr3:130660481
|
A | G | 1 | a0032c0079t0003g0160 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.5831-1156A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660481 | ||||||
| chr3:130660511
|
C | T | 1 | a0004c0004t0010g0250 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.5831-1126C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660511 | ||||||
| chr3:130660524
|
T | C | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5831-1113T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660524 | ||||||
| chr3:130660658
|
T | C | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.5831-979T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660658 | ||||||
| chr3:130660717
|
G | A | 1 | a0012c0009t0003g0136 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5831-920G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660717 | ||||||
| chr3:130660773
|
C | T | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.5831-864C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660773 | ||||||
| chr3:130660827
|
A | G | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5831-810A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660827 | ||||||
| chr3:130660980
|
G | A | 5 | a0002c0002t0004g0202a0007c0040t0004g0234a0007c0040t0004g0235others(2): Show | 6 | HG02486.hp1 HG02970.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.5831-657G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130660980 | ||||||
| chr3:130661067
|
T | C | 3 | a0008c0006t0004g0241a0008c0006t0004g0242a0008c0006t0004g0243 | 3 | HG00738.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.5831-570T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130661067 | ||||||
| chr3:130661333
|
C | T | 84 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(81): Show | 84 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.5831-304C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130661333 | ||||||
| chr3:130661390
|
A | T | 10 | a0001c0001t0005g0061a0002c0002t0007g0228a0002c0049t0003g0189others(7): Show | 10 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(7): Show |
intron_variant | MODIFIER | c.5831-247A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130661390 | ||||||
| chr3:130661464
|
T | C | 10 | a0001c0001t0005g0061a0002c0002t0007g0228a0002c0049t0003g0189others(7): Show | 10 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(7): Show |
intron_variant | MODIFIER | c.5831-173T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 34/36 | chr3 | 130661464 | ||||||
| chr3:130662369
|
A | T | 1 | a0025c0074t0004g0215 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6502+61A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130662369 | ||||||
| chr3:130662965
|
G | A | 1 | a0001c0001t0010g0255 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.6502+657G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130662965 | ||||||
| chr3:130663254
|
T | C | 1 | a0008c0006t0003g0122 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.6502+946T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663254 | ||||||
| chr3:130663334
|
C | T | 20 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(17): Show | 20 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.6502+1026C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663334 | ||||||
| chr3:130663348
|
A | G | 4 | a0003c0062t0004g0216a0008c0006t0004g0231a0027c0041t0001g0021others(1): Show | 4 | HG01496.hp1 HG02647.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.6502+1040A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663348 | ||||||
| chr3:130663373
|
C | T | 1 | a0013c0028t0004g0199 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6502+1065C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663373 | ||||||
| chr3:130663388
|
A | G | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6502+1080A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663388 | ||||||
| chr3:130663449
|
T | C | 1 | a0007c0017t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.6502+1141T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663449 | ||||||
| chr3:130663528
|
A | C | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6502+1220A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663528 | ||||||
| chr3:130663548
|
T | A | 1 | a0004c0029t0004g0236 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.6502+1240T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663548 | ||||||
| chr3:130663562
|
A | G | 1 | a0012c0009t0005g0104 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.6502+1254A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663562 | ||||||
| chr3:130663625
|
A | C | 1 | a0007c0081t0013g0080 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.6502+1317A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663625 | ||||||
| chr3:130663783
|
G | A | 63 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.6503-1220G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130663783 | ||||||
| chr3:130664036
|
G | C | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6503-967G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664036 | ||||||
| chr3:130664097
|
C | T | 1 | a0048c0047t0019g0099 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.6503-906C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664097 | ||||||
| chr3:130664214
|
C | T | 2 | a0020c0025t0002g0027a0020c0025t0002g0028 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.6503-789C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664214 | ||||||
| chr3:130664318
|
C | A | 74 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(71): Show | 74 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.6503-685C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664318 | ||||||
| chr3:130664529
|
T | C | 9 | a0002c0002t0004g0202a0003c0013t0014g0031a0007c0017t0001g0009others(6): Show | 10 | HG02486.hp1 HG02572.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.6503-474T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664529 | ||||||
| chr3:130664614
|
TC | T | 7 | a0003c0023t0007g0211a0006c0007t0003g0182a0007c0032t0003g0128others(4): Show | 7 | HG00735.hp2 HG02055.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.6503-388delC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664614 | ||||||
| chr3:130664682
|
G | A | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.6503-321G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 35/36 | chr3 | 130664682 | ||||||
| chr3:130665129
|
G | A | 88 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(85): Show | 88 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(85): Show |
intron_variant | MODIFIER | c.6596+33G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665129 | ||||||
| chr3:130665239
|
C | A | 1 | a0002c0002t0003g0108 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.6596+143C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665239 | ||||||
| chr3:130665295
|
CT | C | 9 | a0001c0001t0001g0011a0001c0001t0004g0207a0003c0027t0004g0213others(6): Show | 9 | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.6596+209delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130665295 | |||||
| chr3:130665361
|
T | C | 22 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(19): Show | 22 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.6596+265T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665361 | ||||||
| chr3:130665382
|
T | C | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6596+286T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665382 | ||||||
| chr3:130665619
|
T | C | 2 | a0007c0072t0020g0190a0008c0034t0001g0102 | 2 | HG01109.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.6596+523T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665619 | ||||||
| chr3:130665700
|
A | G | 2 | a0003c0070t0002g0035a0018c0033t0001g0193 | 2 | HG02572.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.6596+604A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665700 | ||||||
| chr3:130665720
|
G | A | 2 | a0021c0030t0001g0156a0021c0030t0004g0103 | 2 | HG02572.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.6596+624G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665720 | ||||||
| chr3:130665747
|
C | T | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6596+651C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665747 | ||||||
| chr3:130665829
|
C | T | 1 | a0042c0080t0001g0020 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.6596+733C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130665829 | ||||||
| chr3:130665973
|
CACA | C | 3 | a0002c0002t0004g0219a0014c0011t0001g0177a0014c0011t0004g0217 | 3 | HG02109.hp2 HG02630.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.6596+880_6596+882d others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130665973 | |||||
| chr3:130666143
|
T | C | 8 | a0002c0002t0004g0202a0003c0013t0014g0031a0007c0017t0001g0009others(5): Show | 9 | HG02486.hp1 HG02970.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.6596+1047T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130666143 | ||||||
| chr3:130666633
|
A | C | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.6596+1537A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130666633 | ||||||
| chr3:130666856
|
T | C | 1 | a0005c0003t0010g0246 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.6596+1760T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130666856 | ||||||
| chr3:130667341
|
A | C | 1 | a0003c0013t0014g0031 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6596+2245A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130667341 | ||||||
| chr3:130667394
|
G | A | 1 | a0011c0008t0001g0012 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.6596+2298G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130667394 | ||||||
| chr3:130667529
|
G | A | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6596+2433G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130667529 | ||||||
| chr3:130667567
|
A | C | 83 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(80): Show | 83 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.6596+2471A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130667567 | ||||||
| chr3:130667748
|
C | A | 1 | a0001c0001t0002g0105 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.6596+2652C>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130667748 | ||||||
| chr3:130668041
|
A | G | 3 | a0006c0015t0012g0033a0018c0033t0025g0192a0024c0031t0012g0025 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.6596+2945A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668041 | ||||||
| chr3:130668112
|
T | C | 1 | a0005c0003t0010g0246 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.6596+3016T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668112 | ||||||
| chr3:130668133
|
C | T | 75 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(72): Show | 75 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.6596+3037C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668133 | ||||||
| chr3:130668410
|
A | G | 12 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.6596+3314A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668410 | ||||||
| chr3:130668422
|
G | A | 1 | a0005c0003t0008g0184 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.6596+3326G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668422 | ||||||
| chr3:130668520
|
T | C | 1 | a0004c0004t0001g0172 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.6596+3424T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668520 | ||||||
| chr3:130668694
|
G | A | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6596+3598G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668694 | ||||||
| chr3:130668723
|
A | G | 1 | a0030c0043t0003g0143 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.6596+3627A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668723 | ||||||
| chr3:130668853
|
A | G | 1 | a0001c0001t0002g0064 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.6596+3757A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668853 | ||||||
| chr3:130668917
|
G | T | 1 | a0011c0008t0001g0131 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.6596+3821G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668917 | ||||||
| chr3:130668997
|
T | C | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.6596+3901T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130668997 | ||||||
| chr3:130669111
|
T | A | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.6596+4015T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669111 | ||||||
| chr3:130669231
|
C | G | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.6596+4135C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669231 | ||||||
| chr3:130669487
|
G | C | 12 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.6596+4391G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669487 | ||||||
| chr3:130669795
|
G | A | 1 | a0011c0008t0001g0187 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.6596+4699G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669795 | ||||||
| chr3:130669825
|
TAAGTG | T | 63 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.6596+4732_6596+473 others(9): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130669825 | |||||
| chr3:130669913
|
T | C | 1 | a0004c0026t0004g0208 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.6596+4817T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669913 | ||||||
| chr3:130669916
|
A | G | 12 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.6596+4820A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130669916 | ||||||
| chr3:130670007
|
G | A | 1 | a0046c0054t0002g0055 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.6596+4911G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670007 | ||||||
| chr3:130670009
|
T | A | 1 | a0009c0005t0006g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6596+4913T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670009 | ||||||
| chr3:130670047
|
C | T | 3 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253 | 3 | NA18982.hp1 NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.6596+4951C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670047 | ||||||
| chr3:130670131
|
A | G | 12 | a0003c0010t0001g0181a0006c0007t0001g0194a0006c0007t0002g0029others(9): Show | 12 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.6596+5035A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670131 | ||||||
| chr3:130670261
|
G | A | 63 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.6597-4941G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670261 | ||||||
| chr3:130670400
|
T | A | 12 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.6597-4802T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670400 | ||||||
| chr3:130670420
|
T | C | 3 | a0006c0015t0012g0033a0018c0033t0025g0192a0024c0031t0012g0025 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.6597-4782T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670420 | ||||||
| chr3:130670501
|
G | A | 1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6597-4701G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670501 | ||||||
| chr3:130670572
|
T | C | 136 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(133): Show | 137 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(134): Show |
intron_variant | MODIFIER | c.6597-4630T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670572 | ||||||
| chr3:130670716
|
T | C | 1 | a0009c0005t0006g0057 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.6597-4486T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670716 | ||||||
| chr3:130670747
|
C | T | 1 | a0006c0063t0023g0168 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.6597-4455C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670747 | ||||||
| chr3:130670787
|
C | T | 1 | a0012c0009t0003g0170 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6597-4415C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670787 | ||||||
| chr3:130670874
|
T | C | 12 | a0003c0010t0001g0181a0006c0007t0001g0191a0006c0007t0001g0194others(9): Show | 12 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.6597-4328T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670874 | ||||||
| chr3:130670903
|
C | G | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6597-4299C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130670903 | ||||||
| chr3:130671011
|
G | A | 1 | a0003c0010t0001g0181 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6597-4191G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671011 | ||||||
| chr3:130671041
|
G | A | 1 | a0007c0032t0003g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.6597-4161G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671041 | ||||||
| chr3:130671216
|
C | T | 28 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(25): Show | 29 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.6597-3986C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671216 | ||||||
| chr3:130671240
|
G | A | 135 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(132): Show | 136 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(133): Show |
intron_variant | MODIFIER | c.6597-3962G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671240 | ||||||
| chr3:130671350
|
G | A | 3 | a0008c0006t0003g0180a0014c0011t0003g0178a0014c0011t0003g0179 | 3 | HG01255.hp2 HG02055.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.6597-3852G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671350 | ||||||
| chr3:130671383
|
T | C | 135 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(132): Show | 136 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(133): Show |
intron_variant | MODIFIER | c.6597-3819T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130671383 | ||||||
| chr3:130672034
|
T | C | 21 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(18): Show | 21 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.6597-3168T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672034 | ||||||
| chr3:130672054
|
G | A | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6597-3148G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672054 | ||||||
| chr3:130672125
|
G | C | 21 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(18): Show | 21 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.6597-3077G>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672125 | ||||||
| chr3:130672160
|
T | A | 2 | a0003c0013t0003g0262a0007c0083t0005g0048 | 2 | NA19064.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.6597-3042T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672160 | ||||||
| chr3:130672230
|
G | A | 1 | a0002c0002t0007g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.6597-2972G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672230 | ||||||
| chr3:130672384
|
A | T | 4 | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.6597-2818A>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672384 | ||||||
| chr3:130672405
|
AT | A | 61 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(58): Show | 62 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.6597-2783delT | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130672405 | |||||
| chr3:130672650
|
T | C | 83 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(80): Show | 83 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.6597-2552T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672650 | ||||||
| chr3:130672670
|
C | T | 8 | a0002c0002t0004g0202a0003c0013t0014g0031a0007c0017t0001g0009others(5): Show | 9 | HG02486.hp1 HG02970.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.6597-2532C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672670 | ||||||
| chr3:130672741
|
C | T | 261 | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(258): Show | 263 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(260): Show |
intron_variant | MODIFIER | c.6597-2461C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672741 | ||||||
| chr3:130672781
|
C | T | 1 | a0003c0023t0003g0022 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.6597-2421C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672781 | ||||||
| chr3:130672807
|
A | G | 94 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(91): Show | 94 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.6597-2395A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672807 | ||||||
| chr3:130672935
|
G | A | 4 | a0008c0006t0003g0180a0014c0011t0003g0178a0014c0011t0003g0179others(1): Show | 4 | HG01255.hp2 HG02055.hp1 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.6597-2267G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672935 | ||||||
| chr3:130672959
|
C | T | 3 | a0006c0007t0001g0191a0020c0025t0002g0027a0020c0025t0002g0028 | 3 | HG02280.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.6597-2243C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130672959 | ||||||
| chr3:130673010
|
CA | C | 73 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(70): Show | 73 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.6597-2173delA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673010 | |||||
| chr3:130673045
|
G | T | 1 | a0008c0006t0001g0032 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6597-2157G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673045 | ||||||
| chr3:130673158
|
G | A | 63 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.6597-2044G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673158 | ||||||
| chr3:130673175
|
T | C | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6597-2027T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673175 | ||||||
| chr3:130673178
|
C | CA | 53 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(50): Show | 53 | HG00597.hp2 HG00639.hp1 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.6597-2012dupA | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673178 | |||||
| chr3:130673213
|
A | C | 1 | a0009c0005t0006g0068 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.6597-1989A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673213 | ||||||
| chr3:130673216
|
AC | A | 3 | a0003c0062t0004g0216a0008c0006t0004g0231a0027c0041t0001g0021 | 3 | HG01496.hp1 HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.6597-1985delC | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673216 | ||||||
| chr3:130673219
|
A | ACAAAAAA others(4): Show |
1 | a0006c0007t0001g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6597-1983_6597-198 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673219 | ||||||
| chr3:130673219
|
A | C | 3 | a0003c0062t0004g0216a0008c0006t0004g0231a0027c0041t0001g0021 | 3 | HG01496.hp1 HG02647.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.6597-1983A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673219 | ||||||
| chr3:130673220
|
A | AAAAAAAA others(6): Show |
3 | a0007c0072t0020g0190a0008c0006t0007g0227a0008c0034t0001g0102 | 3 | HG01109.hp2 HG03486.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6597-1973_6597-197 others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673220 | |||||
| chr3:130673220
|
A | AAAAAAAA others(4): Show |
3 | a0006c0015t0012g0033a0018c0033t0025g0192a0024c0031t0012g0025 | 3 | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.6597-1973_6597-197 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673220 | |||||
| chr3:130673220
|
A | AAAAAAAA others(5): Show |
12 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.6597-1973_6597-197 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673220 | |||||
| chr3:130673220
|
A | AAAAAAAA others(4): Show |
25 | a0001c0001t0005g0061a0002c0002t0007g0228a0002c0049t0003g0189others(22): Show | 25 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(22): Show |
intron_variant | MODIFIER | c.6597-1972_6597-197 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673220 | |||||
| chr3:130673220
|
A | AAAAAAAC others(1): Show |
21 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0002g0041others(18): Show | 22 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.6597-1976_6597-197 others(12): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673220 | |||||
| chr3:130673220
|
A | C | 4 | a0003c0062t0004g0216a0006c0007t0001g0191a0008c0006t0004g0231others(1): Show | 4 | HG01496.hp1 HG02280.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.6597-1982A>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673220 | ||||||
| chr3:130673221
|
A | AAAAAAAA others(4): Show |
63 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(60): Show | 63 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.6597-1972_6597-197 others(15): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | 130673221 | |||||
| chr3:130673342
|
T | C | 1 | a0033c0077t0001g0148 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.6597-1860T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673342 | ||||||
| chr3:130673389
|
G | T | 135 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(132): Show | 136 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(133): Show |
intron_variant | MODIFIER | c.6597-1813G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673389 | ||||||
| chr3:130673410
|
G | A | 6 | a0003c0023t0007g0211a0007c0032t0003g0128a0007c0032t0003g0129others(3): Show | 6 | HG00735.hp2 HG02055.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.6597-1792G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673410 | ||||||
| chr3:130673432
|
T | G | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.6597-1770T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673432 | ||||||
| chr3:130673454
|
C | G | 5 | a0003c0070t0002g0035a0006c0015t0012g0033a0018c0033t0001g0193others(2): Show | 5 | HG02572.hp2 HG02622.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.6597-1748C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673454 | ||||||
| chr3:130673483
|
C | T | 1 | a0004c0004t0002g0026 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6597-1719C>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673483 | ||||||
| chr3:130673496
|
C | G | 190 | a0001c0001t0002g0110a0001c0001t0005g0061a0001c0001t0007g0090others(187): Show | 192 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(189): Show |
intron_variant | MODIFIER | c.6597-1706C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673496 | ||||||
| chr3:130673581
|
A | G | 1 | a0013c0012t0006g0086 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6597-1621A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673581 | ||||||
| chr3:130673603
|
A | G | 10 | a0001c0001t0005g0061a0002c0002t0007g0228a0002c0049t0003g0189others(7): Show | 10 | HG01257.hp1 HG01943.hp1 HG03831.hp2 others(7): Show |
intron_variant | MODIFIER | c.6597-1599A>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673603 | ||||||
| chr3:130673790
|
T | C | 15 | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(12): Show | 15 | HG00735.hp2 HG01109.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.6597-1412T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130673790 | ||||||
| chr3:130674099
|
T | C | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6597-1103T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674099 | ||||||
| chr3:130674115
|
G | T | 53 | a0002c0002t0001g0013a0002c0002t0001g0124a0002c0002t0001g0166others(50): Show | 54 | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.6597-1087G>T | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674115 | ||||||
| chr3:130674166
|
G | A | 59 | a0001c0001t0007g0090a0002c0002t0003g0004a0002c0002t0003g0108others(56): Show | 59 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.6597-1036G>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674166 | ||||||
| chr3:130674322
|
T | C | 1 | a0003c0061t0015g0196 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6597-880T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674322 | ||||||
| chr3:130674363
|
C | G | 3 | a0007c0072t0020g0190a0008c0006t0001g0032a0008c0034t0001g0102 | 3 | HG01109.hp2 HG02109.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.6597-839C>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674363 | ||||||
| chr3:130674417
|
T | G | 73 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(70): Show | 73 | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.6597-785T>G | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674417 | ||||||
| chr3:130674521
|
T | C | 1 | a0019c0021t0005g0030 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6597-681T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674521 | ||||||
| chr3:130674620
|
T | C | 1 | a0010c0016t0001g0113 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.6597-582T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674620 | ||||||
| chr3:130674940
|
T | C | 1 | a0044c0052t0005g0060 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.6597-262T>C | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130674940 | ||||||
| chr3:130675129
|
T | A | 136 | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0001g0013others(133): Show | 137 | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(134): Show |
intron_variant | MODIFIER | c.6597-73T>A | COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | 130675129 |