Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1291 |
| ensemblid | ENSG00000142156.16 |
| hgncid | 2211 |
| symbol | COL6A1 |
| name | collagen type VI alpha 1 chain |
| refseq_nuc | NM_001848.3 |
| refseq_prot | NP_001839.2 |
| ensembl_nuc | ENST00000361866.8 |
| ensembl_prot | ENSP00000355180.3 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 45981770 |
| end | 46005048 |
| strand | + |
| ver | v1.2 |
| region | chr21:45981770-46005048 |
| region5000 | chr21:45976770-46010048 |
| regionname0 | COL6A1_chr21_45981770_46005048 |
| regionname5000 | COL6A1_chr21_45976770_46010048 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1028 | 60 | 13 | 15 | 18 | 2 | 10 | 8 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002 | 0/0 | 1028 | 32 | 13 | 13 | 1 | 3 | 2 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0003 | 0/0 | 1028 | 9 | 1 | 2 | 2 | 3 | 1 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0004 | 0/0 | 1028 | 6 | 0 | 1 | 4 | 0 | 1 | 4 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0005 | 0/0 | 1028 | 5 | 4 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0006 | 0/0 | 1028 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0007 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0008 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0009 | 0/0 | 1028 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0010 | 0/0 | 1028 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0011 | 0/0 | 1028 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0012 | 0/0 | 1028 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0013 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0014 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0015 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0016 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0017 | 0/0 | 1028 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0018 | 0/0 | 1028 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0019 | 0/0 | 1028 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0020 | 0/0 | 1028 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| chapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 3087 | 30 | 1 | 11 | 13 | 1 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0002 | 0/0 | 3087 | 29 | 13 | 11 | 0 | 3 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0003 | 0/0 | 3087 | 15 | 1 | 2 | 4 | 1 | 7 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0004 | 0/0 | 3087 | 8 | 1 | 1 | 2 | 3 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0005 | 0/0 | 3087 | 5 | 0 | 1 | 3 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0006 | 0/0 | 3087 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0007 | 0/0 | 3087 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0008 | 0/0 | 3087 | 3 | 0 | 2 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0009 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0010 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0011 | 0/0 | 3087 | 2 | 0 | 1 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0012 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0013 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0014 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0015 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0016 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0017 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0018 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0019 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0020 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0021 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0022 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0023 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0024 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0025 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0026 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0027 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0028 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0029 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0030 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0031 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0032 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0033 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0034 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0035 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| c0036 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 1117 | 42 | 17 | 12 | 5 | 6 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0002 | 0/0 | 1117 | 37 | 5 | 13 | 16 | 2 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0003 | 0/1 | 1117 | 15 | 0 | 4 | 1 | 0 | 9 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0004 | 0/0 | 1104 | 7 | 2 | 4 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0005 | 0/0 | 1117 | 6 | 6 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0006 | 0/0 | 1117 | 4 | 0 | 0 | 3 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0007 | 1/0 | 1117 | 3 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0008 | 0/0 | 1104 | 3 | 1 | 1 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0009 | 0/0 | 1117 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0010 | 0/0 | 1117 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0011 | 0/0 | 1131 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0012 | 0/0 | 1117 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0013 | 0/0 | 1117 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0014 | 0/0 | 1117 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0015 | 0/0 | 1117 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| t0016 | 0/0 | 1117 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0020 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0113 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3087 | 30 | 1 | 11 | 13 | 1 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0003 | 0/0 | 3087 | 15 | 1 | 2 | 4 | 1 | 7 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0007 | 0/0 | 3087 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0009 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0010 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0012 | 0/0 | 3087 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0017 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0018 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0021 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0022 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0024 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0001c0035 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0002c0002 | 0/0 | 3087 | 29 | 13 | 11 | 0 | 3 | 2 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0002c0008 | 0/0 | 3087 | 3 | 0 | 2 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0003c0004 | 0/0 | 3087 | 8 | 1 | 1 | 2 | 3 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0003c0028 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0004c0005 | 0/0 | 3087 | 5 | 0 | 1 | 3 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0004c0030 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0005c0006 | 0/0 | 3087 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0005c0023 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0005c0034 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0006c0011 | 0/0 | 3087 | 2 | 0 | 1 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0007c0036 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0008c0015 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0009c0014 | 0/0 | 3087 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0010c0016 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0011c0019 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0012c0033 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0013c0020 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0014c0025 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0015c0027 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0016c0026 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0017c0029 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0018c0031 | 0/0 | 3087 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0019c0032 | 0/0 | 3087 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 | |
| a0020c0013 | 0/0 | 3087 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0001t0002 | 0/0 | 4203 | 22 | 0 | 9 | 12 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0001t0003 | 0/1 | 4203 | 4 | 0 | 2 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0001t0007 | 1/0 | 4203 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0001t0011 | 0/0 | 4217 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0001t0016 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0001 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0002 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0003 | 0/0 | 4203 | 7 | 0 | 1 | 0 | 0 | 6 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0006 | 0/0 | 4203 | 4 | 0 | 0 | 3 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0007 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0003t0015 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0007t0001 | 0/0 | 4203 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0009t0002 | 0/0 | 4203 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0010t0005 | 0/0 | 4203 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0012t0005 | 0/0 | 4203 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0017t0003 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0018t0001 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0021t0002 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0022t0007 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0024t0003 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0001c0035t0002 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0002t0001 | 0/0 | 4203 | 16 | 6 | 7 | 0 | 2 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0002t0004 | 0/0 | 4190 | 5 | 1 | 3 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0002t0008 | 0/0 | 4190 | 3 | 1 | 1 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0002t0009 | 0/0 | 4203 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0002t0010 | 0/0 | 4203 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0008t0001 | 0/0 | 4203 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0002c0008t0004 | 0/0 | 4190 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0003c0004t0001 | 0/0 | 4203 | 5 | 1 | 1 | 0 | 3 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0003c0004t0002 | 0/0 | 4203 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0003c0004t0012 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0003c0028t0001 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0004c0005t0001 | 0/0 | 4203 | 5 | 0 | 1 | 3 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0004c0030t0001 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0005c0006t0001 | 0/0 | 4203 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0005c0023t0001 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0005c0034t0001 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0006c0011t0002 | 0/0 | 4203 | 2 | 0 | 1 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0007c0036t0005 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0008c0015t0002 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0009c0014t0002 | 0/0 | 4203 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0010c0016t0014 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0011c0019t0003 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0012c0033t0002 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0013c0020t0002 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0014c0025t0001 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0015c0027t0005 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0016c0026t0002 | 0/0 | 4203 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0017c0029t0003 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0018c0031t0013 | 0/0 | 4203 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0019c0032t0002 | 0/0 | 4203 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| a0020c0013t0004 | 0/0 | 4190 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | copy fasta | chr21 | 45976770 | 46010048 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0003g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0003g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0003g0020 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0007g0113 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0011g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0001t0016g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0002g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0003g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0006g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0006g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0006g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0006g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0007g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0003t0015g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0007t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0007t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0009t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0009t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0010t0005g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0010t0005g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0012t0005g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0012t0005g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0017t0003g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0018t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0021t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0022t0007g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0024t0003g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0001c0035t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0004g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0004g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0004g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0004g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0008g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0008g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0008g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0009g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0009g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0009g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0010g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0002t0010g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0008t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0008t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0002c0008t0004g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0004t0012g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0003c0028t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0005t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0005t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0005t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0005t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0005t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0004c0030t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0005c0006t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0005c0006t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0005c0006t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0005c0023t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0005c0034t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0006c0011t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0006c0011t0002g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0007c0036t0005g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0008c0015t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0009c0014t0002g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0010c0016t0014g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0011c0019t0003g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0012c0033t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0013c0020t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0014c0025t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0015c0027t0005g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0016c0026t0002g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0017c0029t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0018c0031t0013g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0019c0032t0002g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| a0020c0013t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0006 | c0011 | t0002 | g0110 | EUR | FIN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00280 | hp2 | a0003 | c0004 | t0001 | g0095 | EUR | FIN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00323 | hp1 | a0001 | c0001 | t0002 | g0035 | EUR | FIN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00323 | hp2 | a0002 | c0002 | t0004 | g0023 | EUR | FIN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00423 | hp1 | a0001 | c0001 | t0002 | g0111 | EAS | CHS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00423 | hp2 | a0001 | c0003 | t0006 | g0059 | EAS | CHS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00544 | hp1 | a0002 | c0008 | t0001 | g0077 | EAS | CHS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0009 | EAS | CHS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00642 | hp1 | a0002 | c0002 | t0001 | g0078 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0104 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00733 | hp1 | a0002 | c0002 | t0001 | g0054 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00733 | hp2 | a0002 | c0002 | t0001 | g0012 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00741 | hp1 | a0001 | c0003 | t0002 | g0017 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01074 | hp1 | a0002 | c0002 | t0004 | g0021 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01074 | hp2 | a0002 | c0002 | t0004 | g0028 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01106 | hp1 | a0001 | c0001 | t0002 | g0106 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01106 | hp2 | a0003 | c0004 | t0001 | g0061 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01167 | hp1 | a0001 | c0003 | t0003 | g0124 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01167 | hp2 | a0005 | c0023 | t0001 | g0060 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01192 | hp1 | a0002 | c0002 | t0001 | g0011 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | PUR | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01255 | hp1 | a0001 | c0017 | t0003 | g0016 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01255 | hp2 | a0002 | c0002 | t0008 | g0117 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01258 | hp1 | a0002 | c0002 | t0004 | g0027 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01258 | hp2 | a0009 | c0014 | t0002 | g0087 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01361 | hp1 | a0001 | c0001 | t0003 | g0014 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01361 | hp2 | a0001 | c0035 | t0002 | g0010 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01496 | hp1 | a0002 | c0008 | t0001 | g0112 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01496 | hp2 | a0002 | c0008 | t0004 | g0032 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01515 | hp1 | a0001 | c0003 | t0001 | g0115 | EUR | IBS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01515 | hp2 | a0010 | c0016 | t0014 | g0090 | EUR | IBS | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01934 | hp2 | a0001 | c0001 | t0002 | g0007 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01943 | hp1 | a0003 | c0028 | t0001 | g0053 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01943 | hp2 | a0002 | c0002 | t0001 | g0052 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01978 | hp1 | a0006 | c0011 | t0002 | g0097 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0126 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0092 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01981 | hp2 | a0001 | c0001 | t0003 | g0013 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02015 | hp1 | a0017 | c0029 | t0003 | g0022 | EAS | KHV | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02015 | hp2 | a0001 | c0001 | t0016 | g0100 | EAS | KHV | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0107 | EAS | KHV | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0094 | EAS | KHV | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02145 | hp1 | a0016 | c0026 | t0002 | g0116 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02145 | hp2 | a0002 | c0002 | t0001 | g0037 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02148 | hp1 | a0001 | c0001 | t0002 | g0079 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0102 | AMR | PEL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0081 | EAS | CDX | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0088 | EAS | CDX | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02258 | hp1 | a0002 | c0002 | t0001 | g0120 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02258 | hp2 | a0005 | c0006 | t0001 | g0071 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02451 | hp1 | a0001 | c0009 | t0002 | g0048 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02451 | hp2 | a0002 | c0002 | t0001 | g0040 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02572 | hp1 | a0002 | c0002 | t0001 | g0043 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02572 | hp2 | a0001 | c0003 | t0007 | g0108 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02602 | hp1 | a0002 | c0002 | t0001 | g0127 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02602 | hp2 | a0001 | c0001 | t0011 | g0125 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02622 | hp2 | a0005 | c0034 | t0001 | g0068 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02630 | hp1 | a0002 | c0002 | t0009 | g0084 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02630 | hp2 | a0002 | c0002 | t0001 | g0050 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02717 | hp1 | a0002 | c0002 | t0010 | g0123 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02717 | hp2 | a0001 | c0009 | t0002 | g0086 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02809 | hp1 | a0001 | c0007 | t0001 | g0063 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02809 | hp2 | a0015 | c0027 | t0005 | g0076 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02886 | hp1 | a0001 | c0012 | t0005 | g0074 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02886 | hp2 | a0001 | c0007 | t0001 | g0001 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02895 | hp1 | a0008 | c0015 | t0002 | g0089 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02895 | hp2 | a0002 | c0002 | t0010 | g0039 | AFR | GWD | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02922 | hp1 | a0001 | c0010 | t0005 | g0072 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02922 | hp2 | a0002 | c0002 | t0004 | g0025 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02965 | hp1 | a0003 | c0004 | t0001 | g0066 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02965 | hp2 | a0002 | c0002 | t0008 | g0118 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02970 | hp1 | a0020 | c0013 | t0004 | g0018 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02970 | hp2 | a0002 | c0002 | t0009 | g0122 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03017 | hp1 | a0001 | c0003 | t0003 | g0019 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03017 | hp2 | a0001 | c0003 | t0006 | g0024 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03195 | hp1 | a0013 | c0020 | t0002 | g0002 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0119 | AFR | ESN | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03239 | hp1 | a0003 | c0004 | t0012 | g0064 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03239 | hp2 | a0001 | c0003 | t0003 | g0034 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03453 | hp1 | a0002 | c0002 | t0009 | g0038 | AFR | MSL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03453 | hp2 | a0001 | c0012 | t0005 | g0073 | AFR | MSL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03492 | hp1 | a0019 | c0032 | t0002 | g0008 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03492 | hp2 | a0004 | c0005 | t0001 | g0047 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03688 | hp1 | a0001 | c0003 | t0003 | g0015 | SAS | STU | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03688 | hp2 | a0001 | c0003 | t0003 | g0033 | SAS | STU | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03704 | hp1 | a0011 | c0019 | t0003 | g0114 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03704 | hp2 | a0001 | c0024 | t0003 | g0030 | SAS | PJL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03927 | hp1 | a0002 | c0002 | t0008 | g0051 | SAS | BEB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03927 | hp2 | a0001 | c0001 | t0003 | g0006 | SAS | BEB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG04228 | hp1 | a0001 | c0003 | t0003 | g0036 | SAS | STU | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG04228 | hp2 | a0001 | c0003 | t0003 | g0026 | SAS | STU | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18612 | hp1 | a0001 | c0003 | t0006 | g0031 | EAS | CHB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18612 | hp2 | a0001 | c0001 | t0002 | g0103 | EAS | CHB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18906 | hp1 | a0005 | c0006 | t0001 | g0067 | AFR | YRI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18906 | hp2 | a0001 | c0007 | t0001 | g0001 | AFR | YRI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18945 | hp1 | a0003 | c0004 | t0002 | g0099 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18945 | hp2 | a0001 | c0003 | t0015 | g0105 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18983 | hp1 | a0004 | c0030 | t0001 | g0085 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA18983 | hp2 | a0012 | c0033 | t0002 | g0080 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19004 | hp1 | a0003 | c0004 | t0002 | g0091 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19004 | hp2 | a0001 | c0021 | t0002 | g0093 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19005 | hp1 | a0004 | c0005 | t0001 | g0044 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19005 | hp2 | a0001 | c0001 | t0002 | g0096 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19043 | hp1 | a0001 | c0010 | t0005 | g0075 | AFR | LWK | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19043 | hp2 | a0014 | c0025 | t0001 | g0042 | AFR | LWK | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19067 | hp1 | a0001 | c0001 | t0002 | g0121 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19067 | hp2 | a0001 | c0003 | t0006 | g0005 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0098 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19070 | hp2 | a0004 | c0005 | t0001 | g0045 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19079 | hp1 | a0004 | c0005 | t0001 | g0058 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0109 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0082 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA19088 | hp2 | a0018 | c0031 | t0013 | g0029 | EAS | JPT | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA20752 | hp1 | a0003 | c0004 | t0001 | g0062 | EUR | TSI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA20752 | hp2 | a0003 | c0004 | t0001 | g0070 | EUR | TSI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA20805 | hp1 | a0002 | c0002 | t0001 | g0055 | EUR | TSI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| NA20805 | hp2 | a0002 | c0002 | t0001 | g0056 | EUR | TSI | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01123 | hp1 | a0004 | c0005 | t0001 | g0041 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG01123 | hp2 | a0002 | c0002 | t0001 | g0057 | AMR | CLM | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02559 | hp1 | a0001 | c0022 | t0007 | g0046 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG02559 | hp2 | a0001 | c0018 | t0001 | g0049 | AFR | ACB | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03471 | hp1 | a0005 | c0006 | t0001 | g0069 | AFR | MSL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| HG03471 | hp2 | a0007 | c0036 | t0005 | g0083 | AFR | MSL | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0003 | g0020 | REF | REF | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0007 | g0113 | REF | REF | COL6A1_chr21_45976770_46010048 | COL6A1 | chr21 | 45976770 | 46010048 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:45982672 | G | A | 1 | a0020 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.136G>A | p.Glu46Lys | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/35 | 217/4203 | 136/3087 | 46/1028 | chr21 | 45982672 | ||
| chr21:45984385 | G | T | 1 | a0007 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.344G>T | p.Ser115Ile | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/35 | 425/4203 | 344/3087 | 115/1028 | chr21 | 45984385 | ||
| chr21:45984388 | G | A | 3 | a0008a0009a0010 | 3 | HG01258.hp2 HG01515.hp2 HG02895.hp1 |
missense_variant | MODERATE | c.347G>A | p.Ser116Asn | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/35 | 428/4203 | 347/3087 | 116/1028 | chr21 | 45984388 | ||
| chr21:45989091 | G | A | 1 | a0011 | 1 | HG03704.hp1 | missense_variant | MODERATE | c.812G>A | p.Arg271Gln | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/35 | 893/4203 | 812/3087 | 271/1028 | chr21 | 45989091 | ||
| chr21:45994210 | T | C | 1 | a0007 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.1379T>C | p.Val460Ala | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/35 | 1460/4203 | 1379/3087 | 460/1028 | chr21 | 45994210 | ||
| chr21:45997464 | A | T | 1 | a0019 | 1 | HG03492.hp1 | missense_variant | MODERATE | c.1442A>T | p.Glu481Val | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 21/35 | 1523/4203 | 1442/3087 | 481/1028 | chr21 | 45997464 | ||
| chr21:45997713 | C | T | 1 | a0018 | 1 | NA19088.hp2 | missense_variant | MODERATE | c.1475C>T | p.Ala492Val | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/35 | 1556/4203 | 1475/3087 | 492/1028 | chr21 | 45997713 | ||
| chr21:45999199 | G | A | 1 | a0012 | 1 | NA18983.hp2 | missense_variant | MODERATE | c.1721G>A | p.Arg574Gln | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/35 | 1802/4203 | 1721/3087 | 574/1028 | chr21 | 45999199 | ||
| chr21:46002046 | T | C | 1 | a0005 | 5 | HG01167.hp2 HG02258.hp2 HG02622.hp2 others(2): Show |
missense_variant | MODERATE | c.2042T>C | p.Ile681Thr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 31/35 | 2123/4203 | 2042/3087 | 681/1028 | chr21 | 46002046 | ||
| chr21:46002551 | G | A | 1 | a0008 | 1 | HG02895.hp1 | missense_variant | MODERATE | c.2275G>A | p.Val759Met | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/35 | 2356/4203 | 2275/3087 | 759/1028 | chr21 | 46002551 | ||
| chr21:46002612 | C | T | 1 | a0013 | 1 | HG03195.hp1 | missense_variant | MODERATE | c.2336C>T | p.Pro779Leu | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/35 | 2417/4203 | 2336/3087 | 779/1028 | chr21 | 46002612 | ||
| chr21:46002700 | G | T | 1 | a0006 | 2 | HG00280.hp1 HG01978.hp1 |
missense_variant | MODERATE | c.2424G>T | p.Gln808His | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/35 | 2505/4203 | 2424/3087 | 808/1028 | chr21 | 46002700 | ||
| chr21:46003126 | A | G | 1 | a0004 | 6 | HG01123.hp1 HG03492.hp2 NA18983.hp1 others(3): Show |
missense_variant | MODERATE | c.2441A>G | p.Lys814Arg | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 34/35 | 2522/4203 | 2441/3087 | 814/1028 | chr21 | 46003126 | ||
| chr21:46003475 | G | A | 5 | a0002a0004a0009others(2): Show | 41 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(38): Show |
missense_variant | MODERATE | c.2549G>A | p.Arg850His | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2630/4203 | 2549/3087 | 850/1028 | chr21 | 46003475 | ||
| chr21:46003540 | C | T | 1 | a0014 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.2614C>T | p.Arg872Trp | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2695/4203 | 2614/3087 | 872/1028 | chr21 | 46003540 | ||
| chr21:46003588 | C | T | 1 | a0017 | 1 | HG02015.hp1 | missense_variant | MODERATE | c.2662C>T | p.Arg888Trp | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2743/4203 | 2662/3087 | 888/1028 | chr21 | 46003588 | ||
| chr21:46003595 | C | T | 2 | a0003a0012 | 10 | HG00280.hp2 HG01106.hp2 HG01943.hp1 others(7): Show |
missense_variant | MODERATE | c.2669C>T | p.Ser890Leu | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2750/4203 | 2669/3087 | 890/1028 | chr21 | 46003595 | ||
| chr21:46003783 | G | A | 1 | a0016 | 1 | HG02145.hp1 | missense_variant | MODERATE | c.2857G>A | p.Ala953Thr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2938/4203 | 2857/3087 | 953/1028 | chr21 | 46003783 | ||
| chr21:46003802 | T | C | 1 | a0015 | 1 | HG02809.hp2 | missense_variant | MODERATE | c.2876T>C | p.Val959Ala | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2957/4203 | 2876/3087 | 959/1028 | chr21 | 46003802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:45984428 | C | A | 1 | a0001c0017 | 1 | HG01255.hp1 | synonymous_variant | LOW | c.387C>A | p.Thr129Thr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/35 | 468/4203 | 387/3087 | 129/1028 | chr21 | 45984428 | ||
| chr21:45986676 | C | T | 1 | a0001c0012 | 2 | HG02886.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.579C>T | p.Pro193Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/35 | 660/4203 | 579/3087 | 193/1028 | chr21 | 45986676 | ||
| chr21:45987000 | G | A | 1 | a0001c0018 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.645G>A | p.Ala215Ala | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 5/35 | 726/4203 | 645/3087 | 215/1028 | chr21 | 45987000 | ||
| chr21:45990817 | C | T | 1 | a0001c0035 | 1 | HG01361.hp2 | synonymous_variant | LOW | c.1047C>T | p.Pro349Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 14/35 | 1128/4203 | 1047/3087 | 349/1028 | chr21 | 45990817 | ||
| chr21:45990826 | C | T | 1 | a0001c0018 | 1 | HG02559.hp2 | splice_region_variant&synonymous_variant | LOW | c.1056C>T | p.Asp352Asp | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 14/35 | 1137/4203 | 1056/3087 | 352/1028 | chr21 | 45990826 | ||
| chr21:45991017 | T | C | 24 | a0001c0003a0001c0009a0001c0010others(21): Show | 73 | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(70): Show |
synonymous_variant | LOW | c.1095T>C | p.Gly365Gly | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/35 | 1176/4203 | 1095/3087 | 365/1028 | chr21 | 45991017 | ||
| chr21:45992789 | G | A | 2 | a0001c0018a0013c0020 | 2 | HG02559.hp2 HG03195.hp1 |
synonymous_variant | LOW | c.1314G>A | p.Thr438Thr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/35 | 1395/4203 | 1314/3087 | 438/1028 | chr21 | 45992789 | ||
| chr21:45997465 | G | A | 1 | a0001c0018 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.1443G>A | p.Glu481Glu | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 21/35 | 1524/4203 | 1443/3087 | 481/1028 | chr21 | 45997465 | ||
| chr21:45997744 | G | A | 1 | a0001c0021 | 1 | NA19004.hp2 | synonymous_variant | LOW | c.1506G>A | p.Pro502Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/35 | 1587/4203 | 1506/3087 | 502/1028 | chr21 | 45997744 | ||
| chr21:45997744 | G | C | 1 | a0001c0022 | 1 | HG02559.hp1 | synonymous_variant | LOW | c.1506G>C | p.Pro502Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/35 | 1587/4203 | 1506/3087 | 502/1028 | chr21 | 45997744 | ||
| chr21:45999689 | G | A | 4 | a0001c0007a0005c0006a0005c0023others(1): Show | 8 | HG01167.hp2 HG02258.hp2 HG02622.hp2 others(5): Show |
synonymous_variant | LOW | c.1773G>A | p.Pro591Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/35 | 1854/4203 | 1773/3087 | 591/1028 | chr21 | 45999689 | ||
| chr21:46002065 | C | A | 1 | a0001c0018 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.2061C>A | p.Leu687Leu | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 31/35 | 2142/4203 | 2061/3087 | 687/1028 | chr21 | 46002065 | ||
| chr21:46002281 | G | A | 1 | a0001c0024 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.2130G>A | p.Thr710Thr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 32/35 | 2211/4203 | 2130/3087 | 710/1028 | chr21 | 46002281 | ||
| chr21:46002371 | G | A | 1 | a0001c0009 | 2 | HG02451.hp1 HG02717.hp2 |
synonymous_variant | LOW | c.2220G>A | p.Pro740Pro | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 32/35 | 2301/4203 | 2220/3087 | 740/1028 | chr21 | 46002371 | ||
| chr21:46003593 | G | A | 7 | a0002c0002a0002c0008a0004c0005others(4): Show | 41 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(38): Show |
synonymous_variant | LOW | c.2667G>A | p.Ala889Ala | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2748/4203 | 2667/3087 | 889/1028 | chr21 | 46003593 | ||
| chr21:46003707 | C | T | 3 | a0001c0010a0001c0012a0015c0027 | 5 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.2781C>T | p.Tyr927Tyr | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2862/4203 | 2781/3087 | 927/1028 | chr21 | 46003707 | ||
| chr21:46003722 | C | T | 6 | a0002c0002a0002c0008a0004c0005others(3): Show | 40 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(37): Show |
synonymous_variant | LOW | c.2796C>T | p.Ser932Ser | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2877/4203 | 2796/3087 | 932/1028 | chr21 | 46003722 | ||
| chr21:46003791 | C | T | 1 | a0005c0034 | 1 | HG02622.hp2 | synonymous_variant | LOW | c.2865C>T | p.Ile955Ile | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 2946/4203 | 2865/3087 | 955/1028 | chr21 | 46003791 | ||
| chr21:46003980 | C | T | 1 | a0013c0020 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.3054C>T | p.His1018His | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 3135/4203 | 3054/3087 | 1018/1028 | chr21 | 46003980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:45981791 | G | C | 1 | a0001c0001t0011 | 1 | HG02602.hp2 | 5_prime_UTR_variant | MODIFIER | c.-60G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 60 | chr21 | 45981791 | |||||
| chr21:45981793 | C | CGCGGCGG others(7): Show |
1 | a0001c0001t0011 | 1 | HG02602.hp2 | 5_prime_UTR_variant | MODIFIER | c.-57_-56insCGGCGGCC others(6): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 56 | INFO_REALIGN_3_PRIME | chr21 | 45981793 | ||||
| chr21:45981811 | C | T | 1 | a0001c0001t0011 | 1 | HG02602.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-40C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | chr21 | 45981811 | ||||||
| chr21:45981846 | C | G | 28 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(25): Show | 68 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(65): Show |
5_prime_UTR_variant | MODIFIER | c.-5C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 5 | chr21 | 45981846 | |||||
| chr21:46004100 | C | T | 1 | a0002c0002t0009 | 3 | HG02630.hp1 HG02970.hp2 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*87C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 87 | chr21 | 46004100 | |||||
| chr21:46004158 | C | T | 1 | a0003c0004t0012 | 1 | HG03239.hp1 | 3_prime_UTR_variant | MODIFIER | c.*145C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 145 | chr21 | 46004158 | |||||
| chr21:46004212 | A | G | 1 | a0001c0001t0016 | 1 | HG02015.hp2 | 3_prime_UTR_variant | MODIFIER | c.*199A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 199 | chr21 | 46004212 | |||||
| chr21:46004273 | A | G | 42 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(39): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
3_prime_UTR_variant | MODIFIER | c.*260A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 260 | chr21 | 46004273 | |||||
| chr21:46004307 | G | A | 1 | a0010c0016t0014 | 1 | HG01515.hp2 | 3_prime_UTR_variant | MODIFIER | c.*294G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 294 | chr21 | 46004307 | |||||
| chr21:46004360 | TCTCCTGC others(6): Show |
T | 4 | a0002c0002t0004a0002c0002t0008a0002c0008t0004others(1): Show | 10 | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*357_*369delTGCCCT others(7): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 357 | INFO_REALIGN_3_PRIME | chr21 | 46004360 | ||||
| chr21:46004392 | C | A | 4 | a0001c0010t0005a0001c0012t0005a0007c0036t0005others(1): Show | 6 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*379C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 379 | chr21 | 46004392 | |||||
| chr21:46004420 | C | T | 1 | a0002c0002t0010 | 2 | HG02717.hp1 HG02895.hp2 |
3_prime_UTR_variant | MODIFIER | c.*407C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 407 | chr21 | 46004420 | |||||
| chr21:46004432 | A | G | 43 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(40): Show | 109 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
3_prime_UTR_variant | MODIFIER | c.*419A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 419 | chr21 | 46004432 | |||||
| chr21:46004742 | C | T | 1 | a0018c0031t0013 | 1 | NA19088.hp2 | 3_prime_UTR_variant | MODIFIER | c.*729C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 729 | chr21 | 46004742 | |||||
| chr21:46004900 | C | T | 1 | a0001c0003t0015 | 1 | NA18945.hp2 | 3_prime_UTR_variant | MODIFIER | c.*887C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 35/35 | 887 | chr21 | 46004900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:45981967 | G | A | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+20G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45981967 | ||||||
| chr21:45981989 | T | A | 1 | a0001c0001t0002g0003 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.97+42T>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45981989 | ||||||
| chr21:45982015 | C | CG | 5 | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0003g0006others(2): Show | 5 | HG01192.hp2 HG01934.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+72dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982015 | |||||
| chr21:45982074 | T | TC | 3 | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0035t0002g0010 | 3 | HG00544.hp2 HG01192.hp2 HG01361.hp2 |
intron_variant | MODIFIER | c.97+131dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982074 | |||||
| chr21:45982125 | C | CG | 6 | a0001c0001t0002g0004a0001c0001t0011g0125a0001c0003t0003g0124others(3): Show | 6 | HG01167.hp1 HG01192.hp2 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.97+182dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982125 | |||||
| chr21:45982136 | G | T | 1 | a0002c0002t0009g0122 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97+189G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982136 | ||||||
| chr21:45982161 | C | CG | 4 | a0001c0001t0002g0004a0001c0001t0002g0121a0002c0002t0001g0120others(1): Show | 4 | HG01192.hp2 HG02258.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+218dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982161 | |||||
| chr21:45982165 | G | GCCGGA | 6 | a0001c0003t0001g0115a0002c0002t0001g0119a0002c0002t0008g0117others(3): Show | 6 | HG01255.hp2 HG01515.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.97+222_97+226dupGA others(3): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982165 | |||||
| chr21:45982224 | T | TC | 3 | a0001c0001t0002g0003a0002c0002t0001g0011a0002c0002t0010g0123 | 3 | HG00741.hp2 HG01192.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.97+278dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982224 | |||||
| chr21:45982244 | G | GT | 2 | a0001c0001t0002g0121a0011c0019t0003g0114 | 2 | HG03704.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.97+300dupT | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982244 | |||||
| chr21:45982253 | C | A | 1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.97+306C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982253 | ||||||
| chr21:45982281 | G | GC | 27 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0079others(24): Show | 27 | HG00280.hp2 HG00544.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.97+341dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982281 | |||||
| chr21:45982281 | G | GCC | 20 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0098others(17): Show | 20 | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(17): Show |
intron_variant | MODIFIER | c.97+340_97+341dupCC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982281 | |||||
| chr21:45982288 | C | A | 24 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0020others(21): Show | 24 | HG00323.hp2 HG00733.hp2 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.97+341C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982288 | ||||||
| chr21:45982288 | C | CA | 2 | a0001c0003t0003g0033a0001c0003t0003g0034 | 2 | HG03239.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.97+341_97+342insA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982288 | ||||||
| chr21:45982289 | G | A | 5 | a0001c0001t0002g0035a0001c0001t0003g0006a0001c0001t0011g0125others(2): Show | 5 | HG00323.hp1 HG00544.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.97+342G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982289 | ||||||
| chr21:45982289 | G | C | 120 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(117): Show | 121 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(118): Show |
intron_variant | MODIFIER | c.97+342G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982289 | ||||||
| chr21:45982290 | A | C | 6 | a0001c0001t0002g0035a0001c0001t0002g0096a0001c0001t0003g0006others(3): Show | 6 | HG00323.hp1 HG00544.hp1 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.97+343A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982290 | ||||||
| chr21:45982291 | C | A | 1 | a0001c0001t0002g0096 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.98-343C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982291 | ||||||
| chr21:45982293 | C | G | 5 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(2): Show | 5 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-341C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982293 | ||||||
| chr21:45982313 | G | GC | 110 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(107): Show | 110 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(107): Show |
intron_variant | MODIFIER | c.98-320dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982313 | |||||
| chr21:45982420 | C | T | 25 | a0001c0001t0003g0020a0001c0003t0002g0017a0001c0003t0003g0015others(22): Show | 25 | HG00323.hp2 HG00423.hp2 HG00741.hp1 others(22): Show |
intron_variant | MODIFIER | c.98-214C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982420 | ||||||
| chr21:45982442 | G | GT | 2 | a0001c0001t0002g0004a0004c0005t0001g0058 | 2 | HG01192.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.98-189dupT | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | 45982442 | |||||
| chr21:45982509 | G | T | 2 | a0001c0001t0002g0096a0001c0001t0002g0111 | 2 | HG00423.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.98-125G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982509 | ||||||
| chr21:45982532 | G | C | 1 | a0005c0023t0001g0060 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.98-102G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | chr21 | 45982532 | ||||||
| chr21:45982775 | G | GC | 3 | a0001c0001t0002g0096a0001c0001t0011g0125a0001c0003t0003g0015 | 3 | HG02602.hp2 HG03688.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.227+16dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45982775 | |||||
| chr21:45982889 | C | CG | 3 | a0001c0001t0002g0035a0001c0001t0002g0096a0001c0003t0003g0124 | 3 | HG00323.hp1 HG01167.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.227+130dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45982889 | |||||
| chr21:45982908 | C | CTCCAGAG others(62): Show |
1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.227+157_227+225dup others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45982908 | |||||
| chr21:45983002 | C | T | 2 | a0001c0010t0005g0075a0015c0027t0005g0076 | 2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.227+239C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983002 | ||||||
| chr21:45983009 | C | CG | 15 | a0001c0001t0002g0004a0001c0001t0002g0035a0001c0001t0002g0111others(12): Show | 15 | HG00323.hp1 HG00423.hp1 HG00642.hp1 others(12): Show |
intron_variant | MODIFIER | c.227+251dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983009 | |||||
| chr21:45983224 | T | TC | 3 | a0001c0001t0002g0007a0002c0002t0001g0011a0005c0023t0001g0060 | 3 | HG01167.hp2 HG01192.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.227+465dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983224 | |||||
| chr21:45983241 | A | G | 111 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(108): Show | 111 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.227+478A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983241 | ||||||
| chr21:45983351 | C | CG | 14 | a0001c0001t0002g0004a0001c0003t0006g0005a0002c0002t0001g0052others(11): Show | 14 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(11): Show |
intron_variant | MODIFIER | c.227+594dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983351 | |||||
| chr21:45983391 | G | A | 1 | a0016c0026t0002g0116 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.227+628G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983391 | ||||||
| chr21:45983395 | A | AG | 21 | a0001c0001t0002g0009a0001c0001t0002g0092a0001c0001t0002g0094others(18): Show | 21 | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(18): Show |
intron_variant | MODIFIER | c.227+640dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983395 | |||||
| chr21:45983414 | G | A | 10 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(7): Show | 10 | HG01934.hp1 HG01981.hp1 HG02015.hp2 others(7): Show |
intron_variant | MODIFIER | c.227+651G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983414 | ||||||
| chr21:45983449 | G | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.227+686G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983449 | ||||||
| chr21:45983521 | C | G | 1 | a0001c0003t0006g0005 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.228-748C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983521 | ||||||
| chr21:45983521 | C | T | 84 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(81): Show | 84 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.228-748C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983521 | ||||||
| chr21:45983658 | T | TG | 27 | a0001c0001t0002g0079a0001c0001t0011g0125a0001c0003t0001g0115others(24): Show | 27 | HG00642.hp1 HG00733.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.228-602dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983658 | |||||
| chr21:45983779 | G | T | 1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.228-490G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983779 | ||||||
| chr21:45983792 | C | T | 1 | a0001c0003t0006g0031 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.228-477C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983792 | ||||||
| chr21:45983940 | A | AG | 4 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0003t0006g0005others(1): Show | 4 | HG00741.hp2 HG01192.hp1 HG01192.hp2 others(1): Show |
intron_variant | MODIFIER | c.228-324dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45983940 | |||||
| chr21:45983959 | C | T | 24 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0002g0017others(21): Show | 24 | HG00323.hp2 HG00423.hp2 HG00741.hp1 others(21): Show |
intron_variant | MODIFIER | c.228-310C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45983959 | ||||||
| chr21:45984065 | C | CG | 3 | a0001c0001t0002g0111a0002c0002t0001g0011a0002c0002t0010g0123 | 3 | HG00423.hp1 HG01192.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.228-200dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr21 | 45984065 | |||||
| chr21:45984118 | C | G | 2 | a0001c0012t0005g0073a0001c0012t0005g0074 | 2 | HG02886.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.228-151C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45984118 | ||||||
| chr21:45984129 | G | C | 27 | a0001c0001t0002g0004a0001c0001t0002g0102a0001c0003t0001g0115others(24): Show | 27 | HG00733.hp2 HG01123.hp1 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.228-140G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45984129 | ||||||
| chr21:45984212 | G | A | 1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.228-57G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2/34 | chr21 | 45984212 | ||||||
| chr21:45984483 | A | G | 111 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(108): Show | 111 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.428+14A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984483 | ||||||
| chr21:45984508 | C | T | 1 | a0004c0030t0001g0085 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.428+39C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984508 | ||||||
| chr21:45984509 | G | A | 2 | a0001c0003t0001g0115a0002c0002t0008g0117 | 2 | HG01255.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.428+40G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984509 | ||||||
| chr21:45984600 | C | T | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.428+131C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984600 | ||||||
| chr21:45984621 | GA | G | 2 | a0001c0003t0001g0115a0005c0023t0001g0060 | 2 | HG01167.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.428+155delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45984621 | |||||
| chr21:45984681 | G | GAGAGAC | 26 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0020others(23): Show | 26 | HG00323.hp2 HG00423.hp2 HG01074.hp1 others(23): Show |
intron_variant | MODIFIER | c.428+224_428+229dup others(6): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45984681 | |||||
| chr21:45984722 | A | G | 2 | a0001c0003t0007g0108a0002c0002t0010g0123 | 2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.428+253A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984722 | ||||||
| chr21:45984771 | AACAGAGA others(5): Show |
A | 5 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(2): Show | 5 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.428+312_428+323del others(12): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45984771 | |||||
| chr21:45984819 | C | T | 12 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(9): Show | 12 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.428+350C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984819 | ||||||
| chr21:45984851 | G | C | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+382G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984851 | ||||||
| chr21:45984853 | G | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+384G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984853 | ||||||
| chr21:45984855 | C | G | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+386C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984855 | ||||||
| chr21:45984861 | C | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+392C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984861 | ||||||
| chr21:45984865 | A | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+396A>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984865 | ||||||
| chr21:45984867 | C | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+398C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984867 | ||||||
| chr21:45984868 | A | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.428+399A>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45984868 | ||||||
| chr21:45984903 | GAGAGAC | G | 7 | a0001c0003t0007g0108a0001c0010t0005g0072a0001c0010t0005g0075others(4): Show | 7 | HG02572.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.428+450_428+455del others(6): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45984903 | |||||
| chr21:45985107 | G | A | 27 | a0001c0003t0001g0115a0001c0003t0007g0108a0001c0018t0001g0049others(24): Show | 27 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.428+638G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985107 | ||||||
| chr21:45985150 | C | T | 1 | a0001c0003t0003g0036 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.428+681C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985150 | ||||||
| chr21:45985171 | CAGAGACA others(1): Show |
C | 64 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(61): Show | 64 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.428+716_428+723del others(8): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45985171 | |||||
| chr21:45985381 | GAGAC | G | 24 | a0001c0003t0001g0115a0001c0022t0007g0046a0002c0002t0001g0012others(21): Show | 24 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.428+920_428+923del others(4): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45985381 | |||||
| chr21:45985461 | G | A | 25 | a0001c0003t0001g0115a0001c0018t0001g0049a0001c0022t0007g0046others(22): Show | 25 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.428+992G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985461 | ||||||
| chr21:45985463 | G | A | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.428+994G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985463 | ||||||
| chr21:45985535 | T | C | 112 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(109): Show | 112 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.429-991T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985535 | ||||||
| chr21:45985536 | G | A | 24 | a0001c0003t0001g0115a0001c0022t0007g0046a0002c0002t0001g0012others(21): Show | 24 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.429-990G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985536 | ||||||
| chr21:45985619 | G | A | 1 | a0002c0002t0010g0039 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.429-907G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985619 | ||||||
| chr21:45985679 | C | G | 25 | a0001c0003t0001g0115a0001c0018t0001g0049a0001c0022t0007g0046others(22): Show | 25 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.429-847C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985679 | ||||||
| chr21:45985684 | G | A | 27 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0020others(24): Show | 27 | HG00323.hp2 HG00423.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.429-842G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985684 | ||||||
| chr21:45985779 | G | A | 1 | a0001c0001t0002g0098 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.429-747G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985779 | ||||||
| chr21:45985909 | C | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.429-617C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985909 | ||||||
| chr21:45985986 | G | A | 1 | a0002c0002t0004g0021 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.429-540G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985986 | ||||||
| chr21:45985997 | C | T | 5 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(2): Show | 5 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.429-529C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45985997 | ||||||
| chr21:45986071 | G | A | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.429-455G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986071 | ||||||
| chr21:45986177 | A | T | 2 | a0001c0018t0001g0049a0002c0002t0010g0123 | 2 | HG02559.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.429-349A>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986177 | ||||||
| chr21:45986200 | G | GGCACGCT others(8): Show |
1 | a0001c0003t0006g0005 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.429-325_429-311dup others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | 45986200 | |||||
| chr21:45986250 | G | A | 1 | a0002c0002t0010g0039 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.429-276G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986250 | ||||||
| chr21:45986342 | A | C | 1 | a0001c0003t0007g0108 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.429-184A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986342 | ||||||
| chr21:45986353 | C | T | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.429-173C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986353 | ||||||
| chr21:45986394 | G | A | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.429-132G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986394 | ||||||
| chr21:45986431 | G | A | 1 | a0002c0002t0008g0118 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.429-95G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986431 | ||||||
| chr21:45986496 | C | T | 1 | a0001c0010t0005g0075 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.429-30C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986496 | ||||||
| chr21:45986507 | G | A | 13 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(10): Show | 13 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(10): Show |
intron_variant | MODIFIER | c.429-19G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | chr21 | 45986507 | ||||||
| chr21:45986696 | G | GC | 19 | a0001c0003t0007g0108a0002c0002t0001g0012a0002c0002t0001g0037others(16): Show | 19 | HG00733.hp2 HG01123.hp1 HG01496.hp1 others(16): Show |
intron_variant | MODIFIER | c.588+19dupC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr21 | 45986696 | |||||
| chr21:45986698 | C | A | 86 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(83): Show | 86 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.588+13C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/34 | chr21 | 45986698 | ||||||
| chr21:45986722 | A | G | 4 | a0004c0005t0001g0044a0004c0005t0001g0045a0004c0005t0001g0058others(1): Show | 4 | NA18983.hp1 NA19005.hp1 NA19070.hp2 others(1): Show |
intron_variant | MODIFIER | c.588+37A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/34 | chr21 | 45986722 | ||||||
| chr21:45986761 | C | T | 1 | a0001c0003t0007g0108 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.588+76C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/34 | chr21 | 45986761 | ||||||
| chr21:45986887 | G | A | 6 | a0001c0010t0005g0075a0001c0012t0005g0073a0001c0012t0005g0074others(3): Show | 6 | HG02809.hp2 HG02886.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.589-57G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4/34 | chr21 | 45986887 | ||||||
| chr21:45987104 | C | T | 1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.717+32C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 5/34 | chr21 | 45987104 | ||||||
| chr21:45987380 | C | T | 1 | a0010c0016t0014g0090 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.739-119C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 6/34 | chr21 | 45987380 | ||||||
| chr21:45987405 | G | A | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.739-94G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 6/34 | chr21 | 45987405 | ||||||
| chr21:45987448 | C | T | 31 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(28): Show | 31 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(28): Show |
intron_variant | MODIFIER | c.739-51C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 6/34 | chr21 | 45987448 | ||||||
| chr21:45987481 | C | T | 1 | a0001c0001t0003g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.739-18C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 6/34 | chr21 | 45987481 | ||||||
| chr21:45987766 | GGGGGTCC others(64): Show |
G | 9 | a0001c0001t0002g0009a0001c0001t0002g0094a0001c0001t0002g0106others(6): Show | 9 | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(6): Show |
intron_variant | MODIFIER | c.804+140_804+210del others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987766 | |||||
| chr21:45987770 | G | GTCCAGAT others(86): Show |
1 | a0002c0002t0008g0051 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.804+139_804+140ins others(93): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987770 | |||||
| chr21:45987786 | CGGCGGGG others(41): Show |
C | 5 | a0001c0001t0002g0096a0001c0001t0002g0111a0002c0002t0009g0038others(2): Show | 5 | HG00423.hp1 HG02717.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+140_804+187del others(48): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987786 | |||||
| chr21:45987788 | G | GCGGGGTC others(63): Show |
1 | a0002c0002t0001g0057 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.804+139_804+140ins others(70): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987788 | |||||
| chr21:45987789 | CG | C | 49 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0035others(46): Show | 49 | HG00323.hp1 HG00544.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.804+140delG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987789 | |||||
| chr21:45987790 | G | GGGGTCCA others(15): Show |
4 | a0001c0003t0007g0108a0002c0002t0008g0117a0002c0002t0009g0122others(1): Show | 4 | HG01255.hp2 HG02572.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+139_804+140ins others(22): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987790 | |||||
| chr21:45987790 | G | GGGGTCCA others(62): Show |
1 | a0001c0001t0002g0082 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.804+139_804+140ins others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987790 | |||||
| chr21:45987790 | G | GGGGTCCA others(178): Show |
1 | a0001c0009t0002g0048 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804+139_804+140ins others(185): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987790 | |||||
| chr21:45987790 | G | GGGGTCCA others(669): Show |
1 | a0001c0009t0002g0086 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.804+139_804+140ins others(676): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987790 | |||||
| chr21:45987790 | G | GGGGTCCA others(108): Show |
1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.804+139_804+140ins others(115): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987790 | |||||
| chr21:45987792 | G | GGTCCAGA others(62): Show |
1 | a0004c0030t0001g0085 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.804+139_804+140ins others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987792 | |||||
| chr21:45987792 | GGGTCCAG others(18): Show |
G | 8 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0092others(5): Show | 8 | HG01123.hp1 HG01934.hp1 HG01981.hp1 others(5): Show |
intron_variant | MODIFIER | c.804+140_804+164del others(25): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987792 | |||||
| chr21:45987793 | G | GTCCAGAT others(62): Show |
1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.804+139_804+140ins others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987793 | ||||||
| chr21:45987793 | GGTCCAGA others(391): Show |
G | 1 | a0001c0001t0002g0088 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.804+140_804+537del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987793 | ||||||
| chr21:45987794 | G | C | 2 | a0002c0002t0001g0057a0002c0002t0008g0051 | 2 | HG01123.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.804+140G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987794 | ||||||
| chr21:45987794 | G | GTCCAGAT others(367): Show |
1 | a0002c0002t0001g0056 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.804+162_804+163ins others(374): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987794 | |||||
| chr21:45987810 | CGGCGGGA others(17): Show |
C | 1 | a0002c0002t0010g0039 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.804+163_804+186del others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987810 | |||||
| chr21:45987811 | G | A | 1 | a0017c0029t0003g0022 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.804+157G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987811 | ||||||
| chr21:45987813 | CGGGAGTC others(156): Show |
C | 5 | a0001c0001t0002g0098a0004c0005t0001g0044a0008c0015t0002g0089others(2): Show | 5 | HG01258.hp2 HG01515.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+163_804+325del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987813 | |||||
| chr21:45987814 | G | GGGGTCCA others(39): Show |
2 | a0002c0002t0001g0040a0002c0002t0001g0120 | 2 | HG02258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.804+162_804+163ins others(46): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987814 | |||||
| chr21:45987815 | G | T | 2 | a0001c0010t0005g0072a0004c0005t0001g0045 | 2 | HG02922.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.804+161G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987815 | ||||||
| chr21:45987816 | G | GGTCCAGA others(39): Show |
2 | a0001c0001t0002g0104a0002c0002t0009g0084 | 2 | HG00642.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.804+162_804+163ins others(46): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987816 | ||||||
| chr21:45987816 | GA | G | 38 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(35): Show | 38 | HG00323.hp1 HG00544.hp1 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.804+163delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987816 | ||||||
| chr21:45987817 | A | G | 11 | a0001c0001t0002g0104a0001c0001t0003g0013a0001c0001t0003g0014others(8): Show | 11 | HG00642.hp2 HG01123.hp2 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.804+163A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987817 | ||||||
| chr21:45987818 | G | C | 1 | a0002c0002t0001g0057 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.804+164G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987818 | ||||||
| chr21:45987827 | G | GAGGGGAC others(297): Show |
1 | a0001c0003t0015g0105 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.804+179_804+180ins others(304): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987827 | |||||
| chr21:45987834 | T | C | 97 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(94): Show | 98 | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.804+180T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987834 | ||||||
| chr21:45987836 | G | T | 1 | a0001c0024t0003g0030 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.804+182G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987836 | ||||||
| chr21:45987837 | C | CG | 4 | a0001c0001t0002g0082a0001c0003t0003g0034a0001c0003t0003g0124others(1): Show | 4 | HG01167.hp1 HG03239.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.804+187dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987837 | |||||
| chr21:45987837 | C | CGGGAGTC others(229): Show |
1 | a0001c0021t0002g0093 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.804+186_804+187ins others(236): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987837 | |||||
| chr21:45987839 | G | T | 5 | a0001c0003t0007g0108a0001c0018t0001g0049a0002c0002t0001g0056others(2): Show | 5 | HG02559.hp2 HG02572.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.804+185G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987839 | ||||||
| chr21:45987840 | G | GA | 14 | a0001c0001t0002g0004a0001c0001t0002g0035a0001c0001t0002g0102others(11): Show | 14 | HG00323.hp1 HG00733.hp2 HG01123.hp2 others(11): Show |
intron_variant | MODIFIER | c.804+186_804+187ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987840 | ||||||
| chr21:45987840 | G | GGTCCAGA others(65): Show |
6 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(3): Show | 6 | HG00642.hp1 HG00733.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.804+204_804+205ins others(72): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987840 | |||||
| chr21:45987841 | G | GC | 2 | a0001c0024t0003g0030a0002c0002t0001g0119 | 2 | HG03195.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.804+187_804+188ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987841 | ||||||
| chr21:45987841 | G | GTCCAGAT others(17): Show |
3 | a0005c0006t0001g0067a0005c0006t0001g0069a0005c0034t0001g0068 | 3 | HG02622.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.804+204_804+205ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987841 | |||||
| chr21:45987841 | G | GTCCAGAT others(135): Show |
1 | a0002c0002t0001g0127 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.804+204_804+205ins others(142): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987841 | |||||
| chr21:45987841 | G | GTCCAGAT others(17): Show |
1 | a0001c0001t0002g0003 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.804+202_804+203ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987841 | |||||
| chr21:45987857 | C | CGGCGGGG others(64): Show |
3 | a0005c0006t0001g0067a0005c0006t0001g0069a0005c0034t0001g0068 | 3 | HG02622.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.804+210_804+211ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987857 | |||||
| chr21:45987857 | C | T | 1 | a0015c0027t0005g0076 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.804+203C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987857 | ||||||
| chr21:45987859 | G | T | 4 | a0001c0024t0003g0030a0002c0002t0001g0126a0002c0008t0001g0077others(1): Show | 4 | HG00544.hp1 HG01167.hp2 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+205G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987859 | ||||||
| chr21:45987860 | C | CGGGGTCC others(158): Show |
1 | a0005c0006t0001g0071 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.804+232_804+233ins others(165): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987860 | |||||
| chr21:45987860 | C | CGTGGTCC others(297): Show |
1 | a0001c0003t0006g0005 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.804+207_804+208ins others(304): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987860 | |||||
| chr21:45987862 | G | T | 17 | a0001c0001t0002g0004a0001c0001t0002g0035a0001c0001t0002g0102others(14): Show | 17 | HG00323.hp1 HG00642.hp1 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.804+208G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987862 | ||||||
| chr21:45987863 | G | GA | 17 | a0001c0001t0002g0007a0001c0001t0002g0079a0001c0001t0002g0081others(14): Show | 17 | HG01123.hp1 HG01167.hp1 HG01934.hp1 others(14): Show |
intron_variant | MODIFIER | c.804+209_804+210ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987863 | ||||||
| chr21:45987864 | G | GC | 4 | a0001c0024t0003g0030a0002c0008t0001g0077a0005c0023t0001g0060others(1): Show | 4 | HG00544.hp1 HG01167.hp2 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.804+210_804+211ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987864 | ||||||
| chr21:45987864 | G | GCTCCAGA others(182): Show |
1 | a0002c0002t0001g0126 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.804+210_804+211ins others(189): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987864 | ||||||
| chr21:45987880 | C | T | 1 | a0002c0002t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.804+226C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987880 | ||||||
| chr21:45987882 | G | T | 2 | a0002c0002t0001g0050a0002c0002t0001g0056 | 2 | HG02630.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.804+228G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987882 | ||||||
| chr21:45987885 | G | GGGCTCCA others(17): Show |
1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.804+233_804+234ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987885 | |||||
| chr21:45987885 | G | T | 9 | a0001c0001t0002g0007a0001c0001t0002g0103a0001c0010t0005g0072others(6): Show | 9 | HG01123.hp1 HG01934.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.804+231G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987885 | ||||||
| chr21:45987886 | G | GA | 15 | a0001c0003t0015g0105a0001c0010t0005g0075a0001c0012t0005g0073others(12): Show | 15 | HG01255.hp2 HG02258.hp1 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.804+232_804+233ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987886 | ||||||
| chr21:45987886 | G | GGTCCAGA others(64): Show |
1 | a0003c0004t0001g0070 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.804+248_804+249ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987886 | |||||
| chr21:45987886 | G | GGTCCAGA others(40): Show |
2 | a0001c0001t0003g0020a0001c0017t0003g0016 | 2 | HG01255.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.804+248_804+249ins others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987886 | |||||
| chr21:45987887 | G | GC | 3 | a0002c0002t0001g0050a0002c0002t0001g0056a0002c0008t0001g0077 | 3 | HG00544.hp1 HG02630.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.804+233_804+234ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987887 | ||||||
| chr21:45987903 | T | C | 108 | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0009others(105): Show | 108 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(105): Show |
intron_variant | MODIFIER | c.804+249T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987903 | ||||||
| chr21:45987905 | G | T | 10 | a0001c0001t0002g0003a0002c0002t0001g0011a0002c0002t0001g0052others(7): Show | 10 | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.804+251G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987905 | ||||||
| chr21:45987906 | C | CG | 4 | a0001c0001t0003g0006a0001c0001t0003g0013a0003c0004t0002g0099others(1): Show | 4 | HG01981.hp2 HG03492.hp1 HG03927.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+256dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987906 | |||||
| chr21:45987906 | C | CGGGGTCC others(89): Show |
1 | a0001c0009t0002g0086 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.804+279_804+280ins others(96): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987906 | |||||
| chr21:45987908 | G | T | 14 | a0001c0001t0002g0096a0001c0001t0002g0111a0001c0003t0015g0105others(11): Show | 14 | HG00423.hp1 HG02258.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.804+254G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987908 | ||||||
| chr21:45987909 | G | GA | 22 | a0001c0001t0002g0009a0001c0001t0002g0082a0001c0001t0002g0094others(19): Show | 22 | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(19): Show |
intron_variant | MODIFIER | c.804+255_804+256ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987909 | ||||||
| chr21:45987909 | G | GGTCCAGA others(64): Show |
1 | a0003c0004t0002g0091 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.804+296_804+297ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987909 | |||||
| chr21:45987910 | G | GC | 12 | a0001c0001t0002g0003a0001c0001t0002g0035a0001c0001t0002g0102others(9): Show | 12 | HG00323.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.804+256_804+257ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987910 | ||||||
| chr21:45987910 | GTCCAGAT others(63): Show |
G | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.804+279_804+348del others(70): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987910 | |||||
| chr21:45987910 | GTCCAGAT others(225): Show |
G | 1 | a0001c0001t0011g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.804+257_804+488del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987910 | ||||||
| chr21:45987926 | C | T | 5 | a0001c0010t0005g0075a0005c0006t0001g0067a0005c0006t0001g0069others(2): Show | 5 | HG02258.hp2 HG02622.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+272C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987926 | ||||||
| chr21:45987928 | G | T | 1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.804+274G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987928 | ||||||
| chr21:45987929 | C | CG | 13 | a0001c0001t0002g0004a0001c0001t0002g0035a0001c0001t0002g0079others(10): Show | 13 | HG00323.hp1 HG00733.hp2 HG01192.hp2 others(10): Show |
intron_variant | MODIFIER | c.804+279dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987929 | |||||
| chr21:45987929 | CGGGGTCC others(78): Show |
C | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.804+280_804+364del others(85): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987929 | |||||
| chr21:45987931 | G | T | 29 | a0001c0001t0002g0009a0001c0001t0002g0082a0001c0001t0002g0094others(26): Show | 29 | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(26): Show |
intron_variant | MODIFIER | c.804+277G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987931 | ||||||
| chr21:45987932 | G | GA | 14 | a0001c0003t0002g0017a0001c0003t0003g0015a0001c0003t0003g0019others(11): Show | 14 | HG00423.hp2 HG00741.hp1 HG01167.hp2 others(11): Show |
intron_variant | MODIFIER | c.804+278_804+279ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987932 | ||||||
| chr21:45987933 | G | GC | 3 | a0001c0001t0002g0007a0001c0001t0002g0103a0001c0010t0005g0072 | 3 | HG01934.hp2 HG02922.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.804+279_804+280ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987933 | ||||||
| chr21:45987949 | C | T | 1 | a0005c0023t0001g0060 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.804+295C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987949 | ||||||
| chr21:45987951 | G | T | 6 | a0001c0001t0001g0065a0001c0007t0001g0001a0001c0007t0001g0063others(3): Show | 7 | HG02622.hp1 HG02809.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+297G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987951 | ||||||
| chr21:45987952 | C | CG | 3 | a0001c0001t0002g0103a0001c0009t0002g0048a0018c0031t0013g0029 | 3 | HG02451.hp1 NA18612.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.804+302dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987952 | |||||
| chr21:45987952 | CGGGGTCC others(55): Show |
C | 1 | a0001c0003t0003g0015 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.804+303_804+364del others(62): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987952 | |||||
| chr21:45987954 | G | T | 2 | a0002c0002t0009g0122a0015c0027t0005g0076 | 2 | HG02809.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.804+300G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987954 | ||||||
| chr21:45987955 | G | GA | 3 | a0001c0010t0005g0075a0002c0002t0001g0043a0020c0013t0004g0018 | 3 | HG02572.hp1 HG02970.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.804+301_804+302ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987955 | ||||||
| chr21:45987956 | G | GC | 6 | a0001c0001t0001g0065a0001c0007t0001g0001a0001c0007t0001g0063others(3): Show | 7 | HG02622.hp1 HG02809.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+302_804+303ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987956 | ||||||
| chr21:45987972 | C | T | 2 | a0001c0001t0002g0007a0002c0002t0001g0119 | 2 | HG01934.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.804+318C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987972 | ||||||
| chr21:45987974 | T | G | 90 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(87): Show | 91 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(88): Show |
intron_variant | MODIFIER | c.804+320T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987974 | ||||||
| chr21:45987976 | G | A | 1 | a0003c0004t0002g0099 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.804+322G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987976 | ||||||
| chr21:45987976 | G | GGGAGTCC others(180): Show |
1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.804+324_804+325ins others(187): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987976 | |||||
| chr21:45987976 | G | GGGGTCCA others(38): Show |
1 | a0017c0029t0003g0022 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.804+325_804+326ins others(45): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987976 | |||||
| chr21:45987977 | G | T | 2 | a0002c0002t0001g0043a0015c0027t0005g0076 | 2 | HG02572.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.804+323G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987977 | ||||||
| chr21:45987978 | G | GGTCCAGA others(39): Show |
1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.804+325_804+326ins others(46): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987978 | |||||
| chr21:45987978 | GGCTCCAG others(18): Show |
G | 1 | a0005c0023t0001g0060 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.804+326_804+350del others(25): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987978 | |||||
| chr21:45987979 | G | A | 21 | a0001c0001t0001g0065a0001c0001t0003g0014a0001c0001t0003g0020others(18): Show | 22 | HG00733.hp2 HG01074.hp2 HG01123.hp1 others(19): Show |
intron_variant | MODIFIER | c.804+325G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987979 | ||||||
| chr21:45987979 | GC | G | 43 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(40): Show | 43 | HG00323.hp2 HG00423.hp2 HG00642.hp2 others(40): Show |
intron_variant | MODIFIER | c.804+326delC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987979 | ||||||
| chr21:45987980 | C | CTCCAGAT others(40): Show |
1 | a0003c0004t0001g0061 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.804+349_804+395dup others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987980 | |||||
| chr21:45987980 | C | G | 30 | a0001c0001t0001g0065a0001c0001t0002g0098a0001c0001t0003g0014others(27): Show | 31 | HG00733.hp2 HG01074.hp2 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.804+326C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987980 | ||||||
| chr21:45987980 | CTCCAGAT others(274): Show |
C | 1 | a0001c0001t0002g0007 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.804+349_804+629del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987980 | |||||
| chr21:45987996 | C | T | 1 | a0001c0001t0002g0003 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.804+342C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987996 | ||||||
| chr21:45987998 | G | GCGTGGTC others(249): Show |
1 | a0002c0008t0001g0077 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.804+346_804+347ins others(256): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987998 | |||||
| chr21:45987998 | G | T | 4 | a0001c0001t0002g0003a0002c0002t0009g0122a0003c0004t0002g0091others(1): Show | 4 | HG00741.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.804+344G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45987998 | ||||||
| chr21:45987999 | CGGGAGTC others(8): Show |
C | 1 | a0002c0002t0004g0027 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.804+349_804+363del others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45987999 | |||||
| chr21:45988000 | G | GGGGTCCA others(62): Show |
1 | a0001c0003t0003g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.804+348_804+349ins others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988000 | |||||
| chr21:45988000 | G | GGGGTCCA others(108): Show |
1 | a0001c0001t0002g0035 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.804+348_804+349ins others(115): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988000 | |||||
| chr21:45988001 | G | T | 9 | a0001c0012t0005g0073a0001c0012t0005g0074a0002c0002t0001g0012others(6): Show | 9 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.804+347G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988001 | ||||||
| chr21:45988002 | GA | G | 54 | a0001c0001t0001g0065a0001c0001t0002g0004a0001c0001t0002g0009others(51): Show | 55 | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.804+349delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988002 | ||||||
| chr21:45988003 | A | G | 18 | a0001c0001t0002g0003a0001c0001t0002g0035a0001c0001t0002g0096others(15): Show | 18 | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(15): Show |
intron_variant | MODIFIER | c.804+349A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988003 | ||||||
| chr21:45988004 | G | C | 6 | a0001c0001t0002g0003a0001c0001t0002g0035a0001c0009t0002g0048others(3): Show | 6 | HG00323.hp1 HG00544.hp1 HG00741.hp2 others(3): Show |
intron_variant | MODIFIER | c.804+350G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988004 | ||||||
| chr21:45988004 | G | GTCCAGAT others(40): Show |
1 | a0003c0004t0001g0070 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.804+390_804+391ins others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988004 | |||||
| chr21:45988013 | G | T | 1 | a0001c0001t0002g0082 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.804+359G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988013 | ||||||
| chr21:45988014 | A | AGGGGACG others(2): Show |
4 | a0001c0003t0003g0033a0001c0003t0003g0036a0001c0003t0007g0108others(1): Show | 4 | HG02015.hp1 HG02572.hp2 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+365_804+373dup others(9): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988014 | |||||
| chr21:45988020 | C | T | 13 | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0094others(10): Show | 13 | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.804+366C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988020 | ||||||
| chr21:45988022 | G | T | 12 | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0094others(9): Show | 12 | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(9): Show |
intron_variant | MODIFIER | c.804+368G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988022 | ||||||
| chr21:45988023 | C | T | 1 | a0001c0010t0005g0075 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.804+369C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988023 | ||||||
| chr21:45988023 | CGGGGTCC others(7): Show |
C | 4 | a0001c0001t0003g0013a0001c0003t0003g0034a0001c0003t0003g0124others(1): Show | 4 | HG01167.hp1 HG01981.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+374_804+387del others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988023 | |||||
| chr21:45988023 | CGGGGTCC others(30): Show |
C | 1 | a0019c0032t0002g0008 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.804+374_804+410del others(37): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988023 | |||||
| chr21:45988025 | G | T | 27 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(24): Show | 27 | HG00642.hp2 HG01258.hp2 HG01515.hp1 others(24): Show |
intron_variant | MODIFIER | c.804+371G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988025 | ||||||
| chr21:45988026 | G | GA | 9 | a0001c0003t0002g0017a0001c0003t0003g0026a0001c0003t0006g0024others(6): Show | 9 | HG00741.hp1 HG01496.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.804+372_804+373ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988026 | ||||||
| chr21:45988027 | G | GC | 13 | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0094others(10): Show | 13 | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.804+373_804+374ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988027 | ||||||
| chr21:45988037 | A | AGGGGACG others(2): Show |
3 | a0001c0003t0006g0024a0002c0002t0004g0025a0002c0008t0004g0032 | 3 | HG01496.hp2 HG02922.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.804+388_804+396dup others(9): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988037 | |||||
| chr21:45988043 | C | T | 4 | a0001c0003t0003g0015a0001c0003t0007g0108a0001c0022t0007g0046others(1): Show | 4 | HG02145.hp1 HG02559.hp1 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+389C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988043 | ||||||
| chr21:45988045 | G | T | 3 | a0002c0002t0009g0122a0004c0005t0001g0045a0004c0030t0001g0085 | 3 | HG02970.hp2 NA18983.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.804+391G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988045 | ||||||
| chr21:45988046 | C | CG | 3 | a0002c0002t0001g0037a0002c0002t0001g0043a0005c0006t0001g0067 | 3 | HG02145.hp2 HG02572.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.804+396dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988046 | |||||
| chr21:45988046 | C | CGGGGGAC others(4): Show |
1 | a0001c0003t0003g0026 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.804+396_804+397ins others(11): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988046 | |||||
| chr21:45988046 | C | CGGGGTCC others(64): Show |
1 | a0002c0002t0001g0126 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.804+413_804+414ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988046 | |||||
| chr21:45988046 | CGGGGTCC others(54): Show |
C | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.804+397_804+457del others(61): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988046 | |||||
| chr21:45988046 | CGGGGTCC others(158): Show |
C | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.804+437_804+601del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988046 | |||||
| chr21:45988048 | G | GGGTCCAG others(87): Show |
6 | a0002c0008t0001g0112a0003c0004t0001g0062a0003c0004t0001g0095others(3): Show | 6 | HG00280.hp2 HG01496.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.804+466_804+559dup others(94): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988048 | |||||
| chr21:45988048 | G | GGGTCCAG others(64): Show |
3 | a0001c0001t0001g0065a0001c0007t0001g0001a0012c0033t0002g0080 | 4 | HG02622.hp1 HG02886.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+413_804+414ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988048 | |||||
| chr21:45988048 | G | GGGTCCAG others(64): Show |
1 | a0003c0004t0001g0066 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.804+413_804+414ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988048 | |||||
| chr21:45988048 | G | T | 15 | a0001c0001t0002g0104a0001c0010t0005g0075a0002c0002t0001g0011others(12): Show | 15 | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(12): Show |
intron_variant | MODIFIER | c.804+394G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988048 | ||||||
| chr21:45988049 | G | GA | 8 | a0001c0001t0002g0096a0001c0001t0002g0111a0001c0001t0003g0014others(5): Show | 8 | HG00423.hp1 HG00423.hp2 HG01361.hp1 others(5): Show |
intron_variant | MODIFIER | c.804+395_804+396ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988049 | ||||||
| chr21:45988050 | G | GC | 3 | a0004c0005t0001g0045a0004c0030t0001g0085a0006c0011t0002g0097 | 3 | HG01978.hp1 NA18983.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.804+396_804+397ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988050 | ||||||
| chr21:45988050 | G | GTCCAGAT others(343): Show |
1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.804+416_804+417ins others(350): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988050 | |||||
| chr21:45988060 | A | AGGGGACG others(2): Show |
4 | a0001c0001t0003g0014a0001c0003t0006g0031a0001c0003t0006g0059others(1): Show | 4 | HG00423.hp2 HG01361.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.804+411_804+419dup others(9): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988060 | |||||
| chr21:45988060 | A | AGGGGACG others(26): Show |
1 | a0002c0002t0004g0028 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.804+418_804+419ins others(33): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988060 | |||||
| chr21:45988068 | G | T | 11 | a0001c0007t0001g0063a0002c0002t0001g0012a0002c0002t0001g0037others(8): Show | 11 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.804+414G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988068 | ||||||
| chr21:45988069 | C | CGGGGCTC others(65): Show |
1 | a0001c0007t0001g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.804+419_804+420ins others(72): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988069 | |||||
| chr21:45988071 | G | T | 7 | a0001c0001t0002g0096a0001c0001t0002g0111a0001c0003t0003g0015others(4): Show | 7 | HG00423.hp1 HG02559.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+417G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988071 | ||||||
| chr21:45988071 | GGGTCCAG others(64): Show |
G | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.804+437_804+507del others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988071 | |||||
| chr21:45988072 | G | GA | 5 | a0001c0003t0003g0033a0001c0003t0003g0034a0001c0003t0003g0036others(2): Show | 5 | HG01258.hp1 HG02015.hp1 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.804+418_804+419ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988072 | ||||||
| chr21:45988073 | G | GC | 21 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(18): Show | 21 | HG00733.hp2 HG01123.hp1 HG01258.hp2 others(18): Show |
intron_variant | MODIFIER | c.804+419_804+420ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988073 | ||||||
| chr21:45988073 | GTCCAGAT others(40): Show |
G | 1 | a0001c0001t0002g0004 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.804+420_804+466del others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988073 | ||||||
| chr21:45988085 | G | C | 1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.804+431G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988085 | ||||||
| chr21:45988086 | GGACGTCG others(8): Show |
G | 1 | a0002c0002t0004g0027 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.804+435_804+449del others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988086 | |||||
| chr21:45988089 | C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0094others(13): Show | 16 | HG00280.hp1 HG00544.hp2 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.804+435C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988089 | ||||||
| chr21:45988089 | CGTCGGGG others(8): Show |
C | 1 | a0001c0003t0003g0034 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.804+437_804+451del others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988089 | |||||
| chr21:45988091 | T | G | 69 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(66): Show | 69 | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(66): Show |
intron_variant | MODIFIER | c.804+437T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988091 | ||||||
| chr21:45988091 | T | TCGGGGCT others(484): Show |
1 | a0002c0002t0001g0056 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.804+465_804+466ins others(491): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988091 | |||||
| chr21:45988093 | G | GGGAGTCC others(109): Show |
1 | a0001c0010t0005g0075 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.804+441_804+442ins others(116): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988093 | |||||
| chr21:45988096 | G | A | 11 | a0001c0001t0003g0013a0001c0003t0003g0026a0001c0003t0003g0124others(8): Show | 11 | HG00323.hp2 HG01074.hp1 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.804+442G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988096 | ||||||
| chr21:45988096 | GC | G | 14 | a0001c0001t0003g0014a0001c0003t0003g0015a0001c0003t0006g0005others(11): Show | 14 | HG00423.hp2 HG01074.hp2 HG01361.hp1 others(11): Show |
intron_variant | MODIFIER | c.804+443delC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988096 | ||||||
| chr21:45988096 | GCTCCAGA others(88): Show |
G | 2 | a0001c0001t0002g0096a0001c0001t0002g0111 | 2 | HG00423.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.804+443_804+537del others(95): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988096 | ||||||
| chr21:45988097 | C | CTCCAGAT others(39): Show |
1 | a0015c0027t0005g0076 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.804+465_804+466ins others(46): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988097 | |||||
| chr21:45988097 | C | G | 38 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(35): Show | 38 | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(35): Show |
intron_variant | MODIFIER | c.804+443C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988097 | ||||||
| chr21:45988107 | A | C | 2 | a0001c0003t0003g0034a0002c0002t0004g0027 | 2 | HG01258.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.804+453A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988107 | ||||||
| chr21:45988113 | C | T | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.804+459C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988113 | ||||||
| chr21:45988115 | G | T | 5 | a0001c0009t0002g0048a0001c0012t0005g0073a0001c0012t0005g0074others(2): Show | 5 | HG02451.hp1 HG02572.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+461G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988115 | ||||||
| chr21:45988116 | CGGGAGTC others(8): Show |
C | 1 | a0001c0003t0003g0124 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.804+466_804+480del others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988116 | |||||
| chr21:45988116 | CGGGAGTC others(171): Show |
C | 1 | a0001c0001t0003g0013 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.804+466_804+643del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988116 | |||||
| chr21:45988117 | G | A | 1 | a0001c0009t0002g0086 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.804+463G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988117 | ||||||
| chr21:45988117 | G | GGGGACGG others(1): Show |
7 | a0001c0003t0003g0026a0001c0003t0006g0024a0002c0002t0004g0021others(4): Show | 7 | HG00323.hp2 HG01074.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+465_804+466ins others(8): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988117 | |||||
| chr21:45988117 | GGGAGTCC others(179): Show |
G | 1 | a0004c0005t0001g0044 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.804+466_804+651del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988117 | |||||
| chr21:45988118 | G | T | 2 | a0001c0001t0003g0014a0002c0002t0008g0117 | 2 | HG01255.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.804+464G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988118 | ||||||
| chr21:45988119 | GA | G | 35 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(32): Show | 35 | HG00642.hp2 HG00733.hp2 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.804+466delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988119 | ||||||
| chr21:45988119 | GAGTCCAG others(227): Show |
G | 9 | a0001c0001t0002g0009a0001c0001t0002g0094a0001c0001t0002g0102others(6): Show | 9 | HG00280.hp1 HG00544.hp2 HG01106.hp1 others(6): Show |
intron_variant | MODIFIER | c.804+466_804+699del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988119 | ||||||
| chr21:45988120 | A | G | 31 | a0001c0001t0003g0020a0001c0003t0001g0115a0001c0003t0003g0019others(28): Show | 31 | HG00323.hp2 HG00544.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.804+466A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988120 | ||||||
| chr21:45988121 | G | C | 5 | a0001c0001t0002g0004a0001c0012t0005g0073a0001c0012t0005g0074others(2): Show | 5 | HG01192.hp2 HG02572.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+467G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988121 | ||||||
| chr21:45988131 | A | AGGGGACG others(2): Show |
7 | a0001c0003t0006g0005a0001c0003t0006g0031a0001c0003t0006g0059others(4): Show | 7 | HG00423.hp2 HG01074.hp2 HG02015.hp1 others(4): Show |
intron_variant | MODIFIER | c.804+479_804+487dup others(9): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988131 | |||||
| chr21:45988137 | C | T | 8 | a0001c0003t0003g0026a0001c0003t0003g0034a0001c0003t0006g0024others(5): Show | 8 | HG01258.hp1 HG01496.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.804+483C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988137 | ||||||
| chr21:45988139 | G | T | 8 | a0002c0002t0001g0012a0002c0002t0001g0037a0002c0002t0009g0038others(5): Show | 8 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.804+485G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988139 | ||||||
| chr21:45988141 | GTGGTCCA others(38): Show |
G | 1 | a0002c0002t0001g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.804+488_804+532del others(45): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988141 | ||||||
| chr21:45988142 | T | G | 75 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0079others(72): Show | 75 | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.804+488T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988142 | ||||||
| chr21:45988144 | G | C | 1 | a0001c0001t0011g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.804+490G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988144 | ||||||
| chr21:45988144 | G | GC | 7 | a0002c0002t0001g0012a0002c0002t0001g0037a0002c0002t0009g0038others(4): Show | 7 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+490_804+491ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988144 | ||||||
| chr21:45988151 | T | C | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.804+497T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988151 | ||||||
| chr21:45988154 | A | C | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.804+500A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988154 | ||||||
| chr21:45988155 | G | A | 1 | a0001c0009t0002g0086 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.804+501G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988155 | ||||||
| chr21:45988160 | C | T | 6 | a0001c0001t0002g0004a0001c0010t0005g0072a0001c0021t0002g0093others(3): Show | 6 | HG01074.hp2 HG01192.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.804+506C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988160 | ||||||
| chr21:45988162 | G | T | 20 | a0001c0001t0002g0004a0001c0003t0015g0105a0001c0010t0005g0072others(17): Show | 20 | HG00733.hp2 HG01123.hp1 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.804+508G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988162 | ||||||
| chr21:45988163 | C | CG | 5 | a0001c0003t0003g0015a0001c0003t0003g0033a0001c0003t0003g0036others(2): Show | 5 | HG02559.hp1 HG02572.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.804+513dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988163 | |||||
| chr21:45988165 | G | GGGTCCAG others(87): Show |
1 | a0005c0006t0001g0069 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.804+559_804+560ins others(94): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988165 | |||||
| chr21:45988165 | G | T | 9 | a0001c0001t0002g0003a0001c0003t0003g0026a0001c0003t0003g0034others(6): Show | 9 | HG00741.hp2 HG01167.hp1 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.804+511G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988165 | ||||||
| chr21:45988166 | G | GA | 3 | a0001c0001t0003g0014a0002c0002t0004g0021a0002c0002t0004g0023 | 3 | HG00323.hp2 HG01074.hp1 HG01361.hp1 |
intron_variant | MODIFIER | c.804+512_804+513ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988166 | ||||||
| chr21:45988167 | G | GC | 20 | a0001c0001t0002g0004a0001c0003t0015g0105a0001c0010t0005g0072others(17): Show | 20 | HG00733.hp2 HG01123.hp1 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.804+513_804+514ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988167 | ||||||
| chr21:45988167 | G | GTCCAGAT others(64): Show |
1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.804+530_804+531ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988167 | |||||
| chr21:45988167 | G | GTCCAGAT others(40): Show |
1 | a0002c0002t0009g0122 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.804+530_804+531ins others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988167 | |||||
| chr21:45988178 | G | GGGGACGG others(86): Show |
1 | a0001c0009t0002g0048 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.804+530_804+531ins others(93): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988178 | |||||
| chr21:45988183 | C | T | 10 | a0001c0001t0003g0006a0001c0001t0011g0125a0001c0003t0003g0033others(7): Show | 10 | HG01978.hp1 HG02602.hp2 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.804+529C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988183 | ||||||
| chr21:45988183 | CGTCGGGG others(101): Show |
C | 2 | a0001c0003t0003g0015a0001c0022t0007g0046 | 2 | HG02559.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.804+531_804+638del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988183 | |||||
| chr21:45988185 | T | G | 58 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0079others(55): Show | 58 | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.804+531T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988185 | ||||||
| chr21:45988185 | T | TCGGGCTC others(182): Show |
1 | a0002c0002t0001g0057 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.804+535_804+536ins others(189): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988185 | |||||
| chr21:45988187 | G | GGGGTCCA others(15): Show |
1 | a0003c0004t0002g0099 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.804+536_804+537ins others(22): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988187 | |||||
| chr21:45988188 | G | T | 2 | a0002c0002t0004g0028a0020c0013t0004g0018 | 2 | HG01074.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.804+534G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988188 | ||||||
| chr21:45988189 | G | GGACGGCG others(47): Show |
1 | a0001c0003t0007g0108 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.804+536_804+537ins others(54): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988189 | |||||
| chr21:45988190 | G | A | 5 | a0001c0003t0006g0005a0001c0012t0005g0073a0001c0012t0005g0074others(2): Show | 5 | HG02886.hp1 HG03453.hp2 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.804+536G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988190 | ||||||
| chr21:45988190 | GC | G | 37 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(34): Show | 37 | HG00423.hp2 HG00642.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.804+537delC | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988190 | ||||||
| chr21:45988191 | C | G | 18 | a0001c0001t0002g0004a0001c0003t0006g0005a0001c0003t0007g0108others(15): Show | 18 | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(15): Show |
intron_variant | MODIFIER | c.804+537C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988191 | ||||||
| chr21:45988191 | CTCCAGAT others(86): Show |
C | 1 | a0004c0005t0001g0045 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.804+561_804+653del others(93): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988191 | |||||
| chr21:45988200 | G | T | 1 | a0001c0001t0003g0006 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.804+546G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988200 | ||||||
| chr21:45988203 | G | C | 2 | a0001c0010t0005g0075a0015c0027t0005g0076 | 2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.804+549G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988203 | ||||||
| chr21:45988207 | C | T | 4 | a0001c0010t0005g0075a0002c0002t0004g0021a0002c0002t0004g0023others(1): Show | 4 | HG00323.hp2 HG01074.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+553C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988207 | ||||||
| chr21:45988209 | G | T | 3 | a0001c0010t0005g0075a0003c0004t0001g0061a0015c0027t0005g0076 | 3 | HG01106.hp2 HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.804+555G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988209 | ||||||
| chr21:45988210 | CG | C | 27 | a0001c0001t0002g0035a0001c0001t0002g0088a0001c0003t0003g0033others(24): Show | 27 | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(24): Show |
intron_variant | MODIFIER | c.804+561delG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988210 | |||||
| chr21:45988211 | G | GGGGACGG others(103): Show |
1 | a0018c0031t0013g0029 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.804+560_804+561ins others(110): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988211 | |||||
| chr21:45988211 | G | GGGGTCCA others(203): Show |
6 | a0002c0002t0001g0052a0002c0002t0001g0054a0002c0002t0001g0078others(3): Show | 6 | HG00642.hp1 HG00733.hp1 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.804+560_804+561ins others(210): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988211 | |||||
| chr21:45988211 | GGGGGTCC others(16): Show |
G | 1 | a0005c0023t0001g0060 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.804+676_804+698del others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988211 | |||||
| chr21:45988211 | GGGGGTCC others(225): Show |
G | 1 | a0001c0001t0003g0006 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.804+577_805-622del | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988211 | |||||
| chr21:45988213 | G | T | 4 | a0001c0003t0003g0033a0001c0003t0003g0036a0001c0012t0005g0073others(1): Show | 4 | HG02886.hp1 HG03453.hp2 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.804+559G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988213 | ||||||
| chr21:45988214 | G | A | 12 | a0001c0001t0003g0020a0001c0003t0003g0019a0001c0003t0003g0026others(9): Show | 12 | HG01167.hp1 HG01255.hp1 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.804+560G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988214 | ||||||
| chr21:45988215 | G | C | 20 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(17): Show | 20 | HG00423.hp1 HG00642.hp2 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.804+561G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988215 | ||||||
| chr21:45988231 | C | T | 5 | a0001c0003t0001g0115a0001c0010t0005g0072a0001c0018t0001g0049others(2): Show | 5 | HG01515.hp1 HG02145.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.804+577C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988231 | ||||||
| chr21:45988233 | G | T | 1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.804+579G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988233 | ||||||
| chr21:45988234 | C | CG | 3 | a0001c0001t0002g0004a0001c0003t0002g0017a0001c0003t0006g0031 | 3 | HG00741.hp1 HG01192.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.804+584dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988234 | |||||
| chr21:45988234 | C | CGGGAGTC others(300): Show |
1 | a0003c0004t0001g0061 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.804+583_804+584ins others(307): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988234 | |||||
| chr21:45988234 | C | CGGGGGTC others(66): Show |
1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.804+584_804+585ins others(73): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988234 | |||||
| chr21:45988234 | C | CGTGGTCC others(64): Show |
1 | a0005c0006t0001g0071 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.804+581_804+582ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988234 | |||||
| chr21:45988236 | G | T | 2 | a0002c0002t0004g0021a0002c0002t0004g0023 | 2 | HG00323.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.804+582G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988236 | ||||||
| chr21:45988237 | G | GA | 3 | a0001c0001t0002g0088a0002c0002t0004g0028a0020c0013t0004g0018 | 3 | HG01074.hp2 HG02165.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.804+583_804+584ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988237 | ||||||
| chr21:45988254 | C | CGGCGGGG others(416): Show |
1 | a0002c0002t0008g0118 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.804+624_804+625ins others(423): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988254 | |||||
| chr21:45988254 | C | T | 23 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(20): Show | 23 | HG00423.hp1 HG00642.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.804+600C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988254 | ||||||
| chr21:45988256 | G | T | 21 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(18): Show | 21 | HG00423.hp1 HG00642.hp2 HG00741.hp2 others(18): Show |
intron_variant | MODIFIER | c.804+602G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988256 | ||||||
| chr21:45988257 | C | CG | 11 | a0001c0003t0003g0026a0001c0003t0003g0034a0001c0003t0003g0124others(8): Show | 11 | HG00423.hp2 HG01167.hp1 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.804+607dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988257 | |||||
| chr21:45988259 | G | T | 2 | a0001c0001t0002g0088a0001c0024t0003g0030 | 2 | HG02165.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.804+605G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988259 | ||||||
| chr21:45988260 | G | GA | 3 | a0001c0003t0003g0033a0001c0003t0003g0036a0017c0029t0003g0022 | 3 | HG02015.hp1 HG03688.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.804+606_804+607ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988260 | ||||||
| chr21:45988261 | G | GC | 22 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0081others(19): Show | 22 | HG00423.hp1 HG00642.hp2 HG00741.hp2 others(19): Show |
intron_variant | MODIFIER | c.804+607_804+608ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988261 | ||||||
| chr21:45988261 | G | GTCCAGAT others(158): Show |
2 | a0001c0012t0005g0073a0001c0012t0005g0074 | 2 | HG02886.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.804+618_804+619ins others(165): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988261 | |||||
| chr21:45988261 | G | GTCCAGAT others(180): Show |
1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.804+622_804+623ins others(187): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988261 | |||||
| chr21:45988261 | G | GTCCAGAT others(111): Show |
2 | a0001c0010t0005g0075a0015c0027t0005g0076 | 2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.804+622_804+623ins others(118): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988261 | |||||
| chr21:45988277 | C | T | 10 | a0002c0002t0001g0012a0002c0002t0001g0037a0002c0002t0001g0043others(7): Show | 10 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.804+623C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988277 | ||||||
| chr21:45988279 | G | T | 9 | a0002c0002t0001g0012a0002c0002t0001g0037a0002c0002t0001g0043others(6): Show | 9 | HG00733.hp2 HG01123.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.804+625G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988279 | ||||||
| chr21:45988280 | C | CG | 3 | a0001c0003t0006g0005a0002c0002t0004g0028a0020c0013t0004g0018 | 3 | HG01074.hp2 HG02970.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.804+630dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988280 | |||||
| chr21:45988280 | CGGGGTCC others(7): Show |
C | 10 | a0001c0003t0003g0026a0001c0003t0003g0034a0001c0003t0003g0124others(7): Show | 10 | HG00423.hp2 HG01167.hp1 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.804+631_804+644del others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988280 | |||||
| chr21:45988282 | G | T | 1 | a0004c0030t0001g0085 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.804+628G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988282 | ||||||
| chr21:45988283 | G | GA | 3 | a0001c0001t0003g0014a0002c0002t0004g0021a0002c0002t0004g0023 | 3 | HG00323.hp2 HG01074.hp1 HG01361.hp1 |
intron_variant | MODIFIER | c.804+629_804+630ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988283 | ||||||
| chr21:45988284 | G | C | 1 | a0001c0001t0002g0035 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.804+630G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988284 | ||||||
| chr21:45988284 | G | GC | 11 | a0001c0001t0002g0004a0002c0002t0001g0011a0002c0002t0001g0012others(8): Show | 11 | HG00733.hp2 HG01123.hp1 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.804+630_804+631ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988284 | ||||||
| chr21:45988284 | G | GTCCAGAT others(17): Show |
6 | a0001c0003t0015g0105a0002c0002t0001g0040a0002c0002t0001g0050others(3): Show | 6 | HG02258.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.804+645_804+646ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988284 | |||||
| chr21:45988284 | G | GTCCAGAT others(368): Show |
1 | a0016c0026t0002g0116 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.804+645_804+646ins others(375): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988284 | |||||
| chr21:45988292 | G | A | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.804+638G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988292 | ||||||
| chr21:45988294 | A | AGGGGACG others(3): Show |
1 | a0001c0001t0003g0014 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.804+644_804+653dup others(10): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988294 | |||||
| chr21:45988294 | A | AGGGGACG others(26): Show |
2 | a0001c0003t0003g0033a0001c0003t0003g0036 | 2 | HG03688.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.804+653_804+654ins others(33): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988294 | |||||
| chr21:45988294 | A | C | 2 | a0001c0003t0003g0015a0001c0022t0007g0046 | 2 | HG02559.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.804+640A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988294 | ||||||
| chr21:45988295 | GGGGACGG others(62): Show |
G | 1 | a0001c0001t0011g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.804+645_804+713del others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988295 | |||||
| chr21:45988300 | C | T | 6 | a0001c0003t0001g0115a0001c0003t0007g0108a0001c0018t0001g0049others(3): Show | 6 | HG01515.hp1 HG02559.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.804+646C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988300 | ||||||
| chr21:45988302 | G | T | 6 | a0001c0003t0001g0115a0001c0003t0007g0108a0001c0018t0001g0049others(3): Show | 6 | HG01515.hp1 HG02559.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.804+648G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988302 | ||||||
| chr21:45988305 | G | T | 1 | a0018c0031t0013g0029 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.804+651G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988305 | ||||||
| chr21:45988305 | GGGTCCAG others(63): Show |
G | 1 | a0006c0011t0002g0097 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.804+694_805-667del others(70): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988305 | |||||
| chr21:45988307 | G | GC | 8 | a0001c0001t0002g0088a0001c0003t0001g0115a0001c0003t0007g0108others(5): Show | 8 | HG01515.hp1 HG02165.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.804+653_804+654ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988307 | ||||||
| chr21:45988323 | C | T | 51 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(48): Show | 51 | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(48): Show |
intron_variant | MODIFIER | c.804+669C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988323 | ||||||
| chr21:45988325 | G | T | 32 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(29): Show | 32 | HG00323.hp1 HG00423.hp1 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.804+671G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988325 | ||||||
| chr21:45988326 | C | CG | 7 | a0001c0001t0003g0020a0001c0003t0003g0019a0001c0017t0003g0016others(4): Show | 7 | HG00323.hp2 HG01074.hp1 HG01255.hp1 others(4): Show |
intron_variant | MODIFIER | c.804+676dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988326 | |||||
| chr21:45988330 | G | C | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.804+676G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988330 | ||||||
| chr21:45988330 | G | GC | 31 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(28): Show | 31 | HG00423.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.804+676_804+677ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988330 | ||||||
| chr21:45988330 | G | GCTCCAGA others(64): Show |
1 | a0001c0001t0002g0035 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.804+676_804+677ins others(71): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988330 | ||||||
| chr21:45988330 | G | GTCCAGAT others(17): Show |
3 | a0002c0002t0001g0055a0002c0002t0001g0056a0002c0002t0001g0057 | 3 | HG01123.hp2 NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.804+691_804+692ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988330 | |||||
| chr21:45988346 | C | T | 3 | a0001c0001t0002g0088a0001c0009t0002g0086a0019c0032t0002g0008 | 3 | HG02165.hp2 HG02717.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.804+692C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988346 | ||||||
| chr21:45988348 | G | T | 3 | a0001c0001t0002g0088a0001c0009t0002g0086a0019c0032t0002g0008 | 3 | HG02165.hp2 HG02717.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.804+694G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988348 | ||||||
| chr21:45988350 | G | GGGGCTCC others(753): Show |
1 | a0002c0002t0001g0126 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.804+698_804+699ins others(760): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988350 | G | GGGGCTCC others(133): Show |
1 | a0001c0021t0002g0093 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.804+698_804+699ins others(140): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988350 | G | GGGGTCCA others(203): Show |
1 | a0002c0002t0001g0011 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.804+698_804+699ins others(210): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988350 | G | GGGGTCCA others(62): Show |
1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.804+698_804+699ins others(69): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988350 | G | GGGGTCCA others(39): Show |
1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.804+698_804+699ins others(46): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988350 | G | GGGGTCCA others(109): Show |
1 | a0004c0030t0001g0085 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.804+698_804+699ins others(116): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988350 | |||||
| chr21:45988351 | G | T | 19 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0002g0017others(16): Show | 19 | HG00423.hp2 HG00741.hp1 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.804+697G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988351 | ||||||
| chr21:45988351 | GGAGTCCA others(17): Show |
G | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.804+699_805-708del others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988351 | |||||
| chr21:45988352 | G | GGACGGCG others(47): Show |
3 | a0001c0003t0006g0005a0002c0002t0004g0021a0002c0002t0004g0023 | 3 | HG00323.hp2 HG01074.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.804+698_804+699ins others(54): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988352 | ||||||
| chr21:45988352 | G | GGGTCCAG others(71): Show |
1 | a0001c0024t0003g0030 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.804+698_804+699ins others(78): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988352 | ||||||
| chr21:45988352 | GA | G | 57 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(54): Show | 57 | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.804+699delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988352 | ||||||
| chr21:45988353 | A | G | 37 | a0001c0001t0002g0088a0001c0001t0003g0020a0001c0003t0001g0115others(34): Show | 37 | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(34): Show |
intron_variant | MODIFIER | c.804+699A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988353 | ||||||
| chr21:45988354 | G | C | 22 | a0001c0001t0002g0088a0001c0003t0015g0105a0001c0009t0002g0048others(19): Show | 22 | HG00733.hp2 HG01123.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.804+700G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988354 | ||||||
| chr21:45988363 | G | T | 1 | a0019c0032t0002g0008 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.804+709G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988363 | ||||||
| chr21:45988373 | C | CG | 2 | a0001c0003t0003g0019a0002c0008t0004g0032 | 2 | HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.805-710dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988373 | |||||
| chr21:45988375 | T | G | 104 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(101): Show | 104 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.805-709T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988375 | ||||||
| chr21:45988376 | G | GA | 2 | a0001c0001t0003g0020a0001c0017t0003g0016 | 2 | HG01255.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.805-708_805-707ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988376 | ||||||
| chr21:45988396 | C | CG | 20 | a0001c0001t0003g0014a0001c0003t0002g0017a0001c0003t0003g0015others(17): Show | 20 | HG00323.hp2 HG00741.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.805-684dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988396 | |||||
| chr21:45988396 | C | CGGGGGTC others(119): Show |
2 | a0017c0029t0003g0022a0018c0031t0013g0029 | 2 | HG02015.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.805-684_805-683ins others(126): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988396 | |||||
| chr21:45988416 | C | CGGCGGGG others(86): Show |
1 | a0002c0008t0001g0077 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.805-667_805-666ins others(93): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988416 | |||||
| chr21:45988416 | C | CGGCGGGG others(17): Show |
1 | a0001c0003t0007g0108 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.805-667_805-666ins others(24): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988416 | |||||
| chr21:45988416 | C | T | 101 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(98): Show | 101 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.805-668C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988416 | ||||||
| chr21:45988418 | T | G | 5 | a0001c0001t0003g0020a0001c0003t0003g0019a0001c0009t0002g0048others(2): Show | 5 | HG01255.hp1 HG02451.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.805-666T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988418 | ||||||
| chr21:45988420 | G | GGGGGTCC others(902): Show |
1 | a0001c0009t0002g0048 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.805-661_805-660ins others(909): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988420 | |||||
| chr21:45988420 | G | GGGGGTCC others(762): Show |
1 | a0001c0009t0002g0086 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.805-661_805-660ins others(769): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988420 | |||||
| chr21:45988422 | G | GGTCCAGA others(464): Show |
1 | a0001c0003t0003g0019 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.805-661_805-660ins others(471): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988422 | |||||
| chr21:45988422 | G | GGTCCAGA others(510): Show |
1 | a0001c0001t0003g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.805-661_805-660ins others(517): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988422 | |||||
| chr21:45988422 | G | GGTCCAGA others(568): Show |
1 | a0001c0017t0003g0016 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.805-661_805-660ins others(575): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988422 | |||||
| chr21:45988424 | C | CTCCAGAT others(86): Show |
1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.805-622_805-621ins others(93): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | 45988424 | |||||
| chr21:45988424 | C | G | 5 | a0001c0001t0003g0020a0001c0003t0003g0019a0001c0009t0002g0048others(2): Show | 5 | HG01255.hp1 HG02451.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.805-660C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988424 | ||||||
| chr21:45988433 | G | A | 3 | a0001c0001t0003g0020a0001c0003t0003g0019a0001c0017t0003g0016 | 3 | HG01255.hp1 HG03017.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.805-651G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988433 | ||||||
| chr21:45988433 | G | T | 80 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(77): Show | 80 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.805-651G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988433 | ||||||
| chr21:45988465 | T | G | 108 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(105): Show | 108 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(105): Show |
intron_variant | MODIFIER | c.805-619T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988465 | ||||||
| chr21:45988466 | C | T | 32 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(29): Show | 32 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(29): Show |
intron_variant | MODIFIER | c.805-618C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988466 | ||||||
| chr21:45988511 | G | A | 1 | a0001c0021t0002g0093 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.805-573G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988511 | ||||||
| chr21:45988535 | C | T | 12 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(9): Show | 12 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.805-549C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988535 | ||||||
| chr21:45988589 | C | T | 1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.805-495C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988589 | ||||||
| chr21:45988876 | G | C | 20 | a0001c0003t0001g0115a0002c0002t0001g0012a0002c0002t0001g0037others(17): Show | 20 | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.805-208G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988876 | ||||||
| chr21:45988901 | G | T | 1 | a0002c0002t0001g0012 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.805-183G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988901 | ||||||
| chr21:45988963 | G | T | 1 | a0019c0032t0002g0008 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.805-121G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45988963 | ||||||
| chr21:45989022 | C | T | 1 | a0002c0002t0004g0027 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.805-62C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | chr21 | 45989022 | ||||||
| chr21:45989199 | C | T | 56 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(53): Show | 56 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(53): Show |
intron_variant | MODIFIER | c.858+62C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/34 | chr21 | 45989199 | ||||||
| chr21:45989325 | G | C | 80 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(77): Show | 80 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(77): Show |
intron_variant | MODIFIER | c.858+188G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/34 | chr21 | 45989325 | ||||||
| chr21:45989381 | C | T | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.859-227C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/34 | chr21 | 45989381 | ||||||
| chr21:45989588 | C | T | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.859-20C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/34 | chr21 | 45989588 | ||||||
| chr21:45989589 | A | G | 109 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(106): Show | 109 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
intron_variant | MODIFIER | c.859-19A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 9/34 | chr21 | 45989589 | ||||||
| chr21:45989665 | C | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.903+13C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 10/34 | chr21 | 45989665 | ||||||
| chr21:45989666 | C | A | 12 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(9): Show | 12 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.903+14C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 10/34 | chr21 | 45989666 | ||||||
| chr21:45989808 | T | C | 1 | a0001c0001t0002g0035 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.930+30T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | chr21 | 45989808 | ||||||
| chr21:45989916 | G | A | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.930+138G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | chr21 | 45989916 | ||||||
| chr21:45989998 | AGGGGTCC others(27): Show |
A | 100 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(97): Show | 100 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.931-198_931-165del others(34): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | 45989998 | |||||
| chr21:45990025 | CGGAGCCG others(28): Show |
C | 1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.931-231_931-197del others(35): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | 45990025 | |||||
| chr21:45990026 | GGAGCCGG others(61): Show |
G | 7 | a0002c0002t0004g0021a0002c0002t0004g0023a0002c0002t0004g0025others(4): Show | 7 | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.931-227_931-160del others(68): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | 45990026 | |||||
| chr21:45990038 | CCCCCGGG others(26): Show |
C | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.931-215_931-183del others(33): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | 45990038 | |||||
| chr21:45990098 | C | T | 1 | a0001c0003t0003g0015 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.931-160C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | chr21 | 45990098 | ||||||
| chr21:45990340 | C | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.958-38C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 12/34 | chr21 | 45990340 | ||||||
| chr21:45990361 | G | A | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.958-17G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 12/34 | chr21 | 45990361 | ||||||
| chr21:45990442 | A | ATGGACGG others(214): Show |
1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(221): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990442 | |||||
| chr21:45990459 | A | AGGAGGAA others(138): Show |
2 | a0001c0010t0005g0075a0015c0027t0005g0076 | 2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1002+124_1002+125i others(147): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(534): Show |
1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(541): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(92): Show |
18 | a0001c0001t0001g0065a0001c0001t0002g0079a0001c0001t0002g0081others(15): Show | 18 | HG01106.hp1 HG01258.hp2 HG01361.hp1 others(15): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(99): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(202): Show |
21 | a0001c0003t0003g0033a0001c0003t0003g0034a0001c0003t0003g0036others(18): Show | 21 | HG00323.hp2 HG00423.hp2 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(209): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(192): Show |
6 | a0001c0001t0003g0020a0001c0003t0003g0015a0001c0003t0003g0019others(3): Show | 6 | HG01255.hp1 HG03017.hp1 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(199): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(286): Show |
1 | a0002c0002t0001g0012 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(293): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(487): Show |
1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(494): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(58): Show |
23 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(20): Show | 23 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(20): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(65): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(168): Show |
1 | a0001c0001t0002g0102 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(175): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(92): Show |
1 | a0002c0002t0009g0038 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(99): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(421): Show |
1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(428): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(202): Show |
10 | a0002c0002t0001g0011a0002c0002t0001g0043a0002c0002t0001g0054others(7): Show | 10 | HG00733.hp1 HG01123.hp2 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(209): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(312): Show |
20 | a0001c0001t0002g0096a0002c0002t0001g0037a0002c0002t0001g0040others(17): Show | 20 | HG00544.hp1 HG00642.hp1 HG01123.hp1 others(17): Show |
intron_variant | MODIFIER | c.1002+42_1002+43ins others(319): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(422): Show |
1 | a0001c0003t0001g0115 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(429): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990459 | A | AGGAGGGA others(422): Show |
1 | a0002c0002t0001g0119 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1002+42_1002+43ins others(429): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990459 | |||||
| chr21:45990465 | A | G | 108 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(105): Show | 108 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(105): Show |
intron_variant | MODIFIER | c.1002+43A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990465 | ||||||
| chr21:45990467 | T | C | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1002+45T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990467 | ||||||
| chr21:45990472 | C | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1002+50C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990472 | ||||||
| chr21:45990472 | C | T | 24 | a0001c0003t0001g0115a0002c0002t0001g0011a0002c0002t0001g0012others(21): Show | 24 | HG00544.hp1 HG00642.hp1 HG00733.hp2 others(21): Show |
intron_variant | MODIFIER | c.1002+50C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990472 | ||||||
| chr21:45990474 | A | G | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1002+52A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990474 | ||||||
| chr21:45990477 | T | TGGGGAGG others(96): Show |
1 | a0005c0023t0001g0060 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1002+111_1002+112i others(105): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | 45990477 | |||||
| chr21:45990488 | G | A | 2 | a0002c0002t0001g0043a0002c0002t0009g0084 | 2 | HG02572.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1002+66G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990488 | ||||||
| chr21:45990567 | C | T | 12 | a0001c0001t0002g0079a0001c0001t0002g0081a0001c0001t0002g0082others(9): Show | 12 | HG01258.hp2 HG01515.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.1002+145C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990567 | ||||||
| chr21:45990624 | C | T | 1 | a0001c0010t0005g0075 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1003-149C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990624 | ||||||
| chr21:45990712 | T | G | 126 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(123): Show | 127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.1003-61T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | chr21 | 45990712 | ||||||
| chr21:45990881 | G | A | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1056+55G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 14/34 | chr21 | 45990881 | ||||||
| chr21:45991080 | C | T | 4 | a0004c0005t0001g0044a0004c0005t0001g0045a0004c0005t0001g0058others(1): Show | 4 | NA18983.hp1 NA19005.hp1 NA19070.hp2 others(1): Show |
intron_variant | MODIFIER | c.1119+39C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991080 | ||||||
| chr21:45991132 | G | A | 1 | a0002c0002t0001g0056 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1119+91G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991132 | ||||||
| chr21:45991230 | T | C | 8 | a0001c0009t0002g0086a0001c0010t0005g0072a0001c0010t0005g0075others(5): Show | 8 | HG02559.hp2 HG02717.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1119+189T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991230 | ||||||
| chr21:45991250 | A | G | 16 | a0001c0007t0001g0001a0001c0007t0001g0063a0001c0010t0005g0075others(13): Show | 17 | HG01167.hp2 HG02258.hp2 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.1119+209A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991250 | ||||||
| chr21:45991302 | G | A | 19 | a0001c0001t0003g0020a0001c0003t0002g0017a0001c0003t0003g0015others(16): Show | 19 | HG00423.hp2 HG00741.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.1119+261G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991302 | ||||||
| chr21:45991475 | C | T | 4 | a0001c0003t0006g0005a0001c0003t0006g0031a0001c0003t0006g0059others(1): Show | 4 | HG00423.hp2 HG02015.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.1119+434C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991475 | ||||||
| chr21:45991503 | G | A | 1 | a0002c0002t0001g0012 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1119+462G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991503 | ||||||
| chr21:45991686 | C | T | 1 | a0004c0005t0001g0058 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1120-324C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991686 | ||||||
| chr21:45991768 | A | G | 1 | a0001c0003t0003g0036 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1120-242A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991768 | ||||||
| chr21:45991998 | G | A | 3 | a0002c0002t0001g0040a0002c0002t0001g0050a0002c0002t0001g0120 | 3 | HG02258.hp1 HG02451.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.1120-12G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 15/34 | chr21 | 45991998 | ||||||
| chr21:45992092 | C | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1182+20C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 16/34 | chr21 | 45992092 | ||||||
| chr21:45992335 | C | T | 1 | a0001c0001t0002g0107 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1237-28C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 17/34 | chr21 | 45992335 | ||||||
| chr21:45992342 | G | A | 1 | a0001c0001t0002g0007 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1237-21G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 17/34 | chr21 | 45992342 | ||||||
| chr21:45992597 | G | A | 17 | a0002c0002t0001g0011a0002c0002t0001g0043a0002c0002t0001g0052others(14): Show | 17 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.1273-151G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 18/34 | chr21 | 45992597 | ||||||
| chr21:45992610 | G | A | 18 | a0001c0007t0001g0001a0001c0007t0001g0063a0001c0018t0001g0049others(15): Show | 19 | HG00280.hp2 HG01106.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.1273-138G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 18/34 | chr21 | 45992610 | ||||||
| chr21:45992740 | C | T | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
splice_region_variant&intron_variant | LOW | c.1273-8C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 18/34 | chr21 | 45992740 | ||||||
| chr21:45992837 | A | C | 105 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(102): Show | 106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.1335+27A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45992837 | ||||||
| chr21:45992926 | C | T | 36 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(33): Show | 36 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.1335+116C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45992926 | ||||||
| chr21:45992974 | G | A | 1 | a0001c0003t0015g0105 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1335+164G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45992974 | ||||||
| chr21:45992977 | G | A | 1 | a0002c0002t0001g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1335+167G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45992977 | ||||||
| chr21:45992995 | T | C | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1335+185T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45992995 | ||||||
| chr21:45993171 | C | T | 16 | a0001c0007t0001g0001a0001c0007t0001g0063a0003c0004t0001g0061others(13): Show | 17 | HG00280.hp2 HG01106.hp2 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.1335+361C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993171 | ||||||
| chr21:45993191 | G | T | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1335+381G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993191 | ||||||
| chr21:45993355 | T | G | 105 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(102): Show | 106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.1335+545T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993355 | ||||||
| chr21:45993386 | A | G | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1335+576A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993386 | ||||||
| chr21:45993482 | T | C | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1335+672T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993482 | ||||||
| chr21:45993878 | C | T | 1 | a0016c0026t0002g0116 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1336-289C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993878 | ||||||
| chr21:45993983 | C | T | 2 | a0013c0020t0002g0002a0016c0026t0002g0116 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1336-184C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45993983 | ||||||
| chr21:45994015 | G | T | 94 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(91): Show | 95 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.1336-152G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45994015 | ||||||
| chr21:45994043 | G | A | 1 | a0002c0002t0008g0118 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1336-124G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45994043 | ||||||
| chr21:45994107 | C | T | 1 | a0003c0004t0002g0099 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1336-60C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 19/34 | chr21 | 45994107 | ||||||
| chr21:45994257 | G | A | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1398+28G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45994257 | ||||||
| chr21:45994349 | T | C | 5 | a0001c0018t0001g0049a0002c0002t0001g0037a0007c0036t0005g0083others(2): Show | 5 | HG02145.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1398+120T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45994349 | ||||||
| chr21:45994400 | G | A | 2 | a0001c0012t0005g0073a0001c0012t0005g0074 | 2 | HG02886.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1398+171G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45994400 | ||||||
| chr21:45994593 | G | C | 1 | a0004c0005t0001g0045 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1398+364G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45994593 | ||||||
| chr21:45994974 | A | C | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1398+745A>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45994974 | ||||||
| chr21:45995025 | T | C | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1398+796T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995025 | ||||||
| chr21:45995188 | G | A | 36 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(33): Show | 36 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.1398+959G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995188 | ||||||
| chr21:45995220 | G | A | 1 | a0001c0003t0015g0105 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1398+991G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995220 | ||||||
| chr21:45995424 | G | A | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1398+1195G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995424 | ||||||
| chr21:45995425 | A | G | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1398+1196A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995425 | ||||||
| chr21:45995527 | G | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1398+1298G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995527 | ||||||
| chr21:45995709 | G | T | 1 | a0002c0002t0010g0123 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1398+1480G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995709 | ||||||
| chr21:45995812 | C | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1398+1583C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995812 | ||||||
| chr21:45995813 | T | C | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1398+1584T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45995813 | ||||||
| chr21:45995935 | CT | C | 50 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(47): Show | 50 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(47): Show |
intron_variant | MODIFIER | c.1399-1483delT | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | 45995935 | |||||
| chr21:45996410 | C | T | 62 | a0001c0007t0001g0001a0001c0007t0001g0063a0001c0010t0005g0072others(59): Show | 63 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.1399-1011C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996410 | ||||||
| chr21:45996526 | G | A | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1399-895G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996526 | ||||||
| chr21:45996579 | T | C | 126 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(123): Show | 127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.1399-842T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996579 | ||||||
| chr21:45996668 | T | C | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1399-753T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996668 | ||||||
| chr21:45996698 | G | A | 3 | a0001c0012t0005g0073a0001c0018t0001g0049a0013c0020t0002g0002 | 3 | HG02559.hp2 HG03195.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1399-723G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996698 | ||||||
| chr21:45996734 | C | G | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1399-687C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996734 | ||||||
| chr21:45996767 | C | A | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1399-654C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45996767 | ||||||
| chr21:45997059 | ACCTGAGG others(56): Show |
A | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1399-342_1399-280d others(65): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | 45997059 | |||||
| chr21:45997079 | A | G | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1399-342A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997079 | ||||||
| chr21:45997081 | T | C | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1399-340T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997081 | ||||||
| chr21:45997086 | G | A | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1399-335G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997086 | ||||||
| chr21:45997100 | C | G | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1399-321C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997100 | ||||||
| chr21:45997112 | TTCCGTGG others(56): Show |
T | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1399-284_1399-222d others(65): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | 45997112 | |||||
| chr21:45997137 | CGGGCGCC others(56): Show |
C | 10 | a0002c0002t0004g0021a0002c0002t0004g0023a0002c0002t0004g0025others(7): Show | 10 | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(7): Show |
intron_variant | MODIFIER | c.1399-272_1399-210d others(65): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | 45997137 | |||||
| chr21:45997175 | C | T | 2 | a0001c0018t0001g0049a0013c0020t0002g0002 | 2 | HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1399-246C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997175 | ||||||
| chr21:45997179 | G | C | 1 | a0001c0003t0006g0005 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1399-242G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997179 | ||||||
| chr21:45997211 | C | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1399-210C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997211 | ||||||
| chr21:45997233 | CCAGGCCC others(6): Show |
C | 43 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(40): Show | 43 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show |
intron_variant | MODIFIER | c.1399-175_1399-163d others(15): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr21 | 45997233 | |||||
| chr21:45997292 | A | G | 60 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(57): Show | 61 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.1399-129A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997292 | ||||||
| chr21:45997310 | A | G | 21 | a0001c0001t0001g0065a0001c0001t0002g0009a0001c0001t0002g0079others(18): Show | 21 | HG00544.hp2 HG00642.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1399-111A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997310 | ||||||
| chr21:45997389 | T | C | 55 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(52): Show | 55 | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.1399-32T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 20/34 | chr21 | 45997389 | ||||||
| chr21:45997501 | C | A | 69 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(66): Show | 70 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.1461+18C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 21/34 | chr21 | 45997501 | ||||||
| chr21:45997518 | A | AG | 79 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(76): Show | 80 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.1461+41dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr21 | 45997518 | |||||
| chr21:45997664 | A | G | 44 | a0001c0018t0001g0049a0002c0002t0001g0011a0002c0002t0001g0012others(41): Show | 44 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.1462-36A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 21/34 | chr21 | 45997664 | ||||||
| chr21:45997777 | G | A | 1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1524+15G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45997777 | ||||||
| chr21:45997781 | G | C | 11 | a0001c0001t0001g0065a0001c0001t0002g0079a0001c0001t0002g0082others(8): Show | 11 | HG00642.hp2 HG01515.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.1524+19G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45997781 | ||||||
| chr21:45997906 | G | A | 1 | a0004c0005t0001g0041 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1524+144G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45997906 | ||||||
| chr21:45997925 | G | T | 1 | a0016c0026t0002g0116 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1524+163G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45997925 | ||||||
| chr21:45997938 | C | A | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1524+176C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45997938 | ||||||
| chr21:45998047 | C | A | 1 | a0002c0002t0001g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1525-74C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45998047 | ||||||
| chr21:45998061 | A | G | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1525-60A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 22/34 | chr21 | 45998061 | ||||||
| chr21:45998275 | G | A | 1 | a0019c0032t0002g0008 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1575+104G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 23/34 | chr21 | 45998275 | ||||||
| chr21:45998320 | G | C | 12 | a0002c0002t0001g0011a0002c0002t0001g0052a0002c0002t0001g0054others(9): Show | 12 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(9): Show |
intron_variant | MODIFIER | c.1576-78G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 23/34 | chr21 | 45998320 | ||||||
| chr21:45998650 | T | C | 105 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(102): Show | 106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.1611+217T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998650 | ||||||
| chr21:45998670 | C | G | 1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1612-227C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998670 | ||||||
| chr21:45998671 | G | C | 1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1612-226G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998671 | ||||||
| chr21:45998678 | G | A | 1 | a0002c0002t0001g0055 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1612-219G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998678 | ||||||
| chr21:45998745 | G | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1612-152G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998745 | ||||||
| chr21:45998814 | C | CT | 103 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(100): Show | 104 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1612-80dupT | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr21 | 45998814 | |||||
| chr21:45998818 | A | T | 1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1612-79A>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998818 | ||||||
| chr21:45998819 | T | A | 1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1612-78T>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998819 | ||||||
| chr21:45998892 | T | C | 1 | a0007c0036t0005g0083 | 1 | HG03471.hp2 | splice_region_variant&intron_variant | LOW | c.1612-5T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 24/34 | chr21 | 45998892 | ||||||
| chr21:45999098 | C | T | 43 | a0001c0018t0001g0049a0002c0002t0001g0011a0002c0002t0001g0012others(40): Show | 43 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1675-55C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 25/34 | chr21 | 45999098 | ||||||
| chr21:45999113 | G | A | 2 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1675-40G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 25/34 | chr21 | 45999113 | ||||||
| chr21:45999268 | C | T | 3 | a0001c0035t0002g0010a0006c0011t0002g0097a0006c0011t0002g0110 | 3 | HG00280.hp1 HG01361.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1740+50C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/34 | chr21 | 45999268 | ||||||
| chr21:45999363 | G | T | 42 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0037others(39): Show | 42 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.1740+145G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/34 | chr21 | 45999363 | ||||||
| chr21:45999520 | C | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1741-137C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/34 | chr21 | 45999520 | ||||||
| chr21:45999598 | C | T | 1 | a0005c0006t0001g0071 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1741-59C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/34 | chr21 | 45999598 | ||||||
| chr21:45999606 | G | A | 18 | a0001c0007t0001g0001a0001c0007t0001g0063a0001c0009t0002g0048others(15): Show | 19 | HG00280.hp2 HG01106.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.1741-51G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 26/34 | chr21 | 45999606 | ||||||
| chr21:45999705 | C | T | 1 | a0001c0003t0003g0034 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1776+13C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999705 | ||||||
| chr21:45999783 | C | T | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+91C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999783 | ||||||
| chr21:45999792 | C | CG | 62 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(59): Show | 63 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(60): Show |
intron_variant | MODIFIER | c.1776+107dupG | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999792 | |||||
| chr21:45999833 | A | G | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+141A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999833 | ||||||
| chr21:45999856 | G | A | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+164G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999856 | ||||||
| chr21:45999866 | G | A | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+174G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999866 | ||||||
| chr21:45999880 | T | C | 105 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(102): Show | 106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.1776+188T>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999880 | ||||||
| chr21:45999890 | C | T | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+198C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999890 | ||||||
| chr21:45999903 | A | G | 35 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(32): Show | 35 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.1776+211A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999903 | ||||||
| chr21:45999915 | T | TAG | 35 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(32): Show | 35 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.1776+223_1776+224i others(4): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999915 | ||||||
| chr21:45999916 | G | A | 35 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(32): Show | 35 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.1776+224G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999916 | ||||||
| chr21:45999917 | G | GGGGACAT others(220): Show |
1 | a0001c0003t0007g0108 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(229): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999917 | |||||
| chr21:45999917 | G | GGGGACAT others(221): Show |
20 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0020others(17): Show | 20 | HG00423.hp2 HG01167.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.1776+246_1776+247i others(230): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999917 | |||||
| chr21:45999917 | G | GGGGACAT others(141): Show |
1 | a0001c0001t0003g0006 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(150): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999917 | |||||
| chr21:45999924 | T | TGTGAGGA others(346): Show |
1 | a0002c0002t0008g0117 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(355): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999924 | |||||
| chr21:45999935 | T | TGGGAAGA others(384): Show |
2 | a0003c0004t0001g0062a0003c0004t0001g0070 | 2 | NA20752.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1776+246_1776+247i others(393): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(386): Show |
4 | a0005c0006t0001g0067a0005c0006t0001g0069a0005c0023t0001g0060others(1): Show | 4 | HG01167.hp2 HG02622.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1776+246_1776+247i others(395): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(407): Show |
10 | a0001c0007t0001g0001a0001c0007t0001g0063a0003c0004t0001g0061others(7): Show | 11 | HG00280.hp2 HG01106.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1776+246_1776+247i others(416): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(365): Show |
2 | a0002c0002t0009g0038a0002c0002t0009g0122 | 2 | HG02970.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1776+246_1776+247i others(374): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(408): Show |
1 | a0001c0018t0001g0049 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(417): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(590): Show |
1 | a0002c0002t0001g0012 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(599): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(387): Show |
3 | a0001c0009t0002g0048a0001c0009t0002g0086a0013c0020t0002g0002 | 3 | HG02451.hp1 HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1776+246_1776+247i others(396): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(387): Show |
26 | a0002c0002t0001g0011a0002c0002t0001g0037a0002c0002t0001g0040others(23): Show | 26 | HG00544.hp1 HG00642.hp1 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.1776+246_1776+247i others(396): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(387): Show |
1 | a0016c0026t0002g0116 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1776+246_1776+247i others(396): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(368): Show |
1 | a0001c0010t0005g0075 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1776+246_1776+247i others(377): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(368): Show |
1 | a0002c0008t0001g0112 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1776+246_1776+247i others(377): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(347): Show |
9 | a0002c0002t0004g0021a0002c0002t0004g0023a0002c0002t0004g0025others(6): Show | 9 | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(6): Show |
intron_variant | MODIFIER | c.1776+246_1776+247i others(356): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(426): Show |
1 | a0015c0027t0005g0076 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1776+246_1776+247i others(435): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(446): Show |
3 | a0001c0012t0005g0073a0001c0012t0005g0074a0007c0036t0005g0083 | 3 | HG02886.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1776+246_1776+247i others(455): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(409): Show |
2 | a0004c0005t0001g0041a0004c0005t0001g0047 | 2 | HG01123.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1776+246_1776+247i others(418): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGAAGA others(404): Show |
1 | a0001c0010t0005g0072 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1776+246_1776+247i others(413): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(452): Show |
2 | a0001c0001t0002g0079a0001c0001t0002g0082 | 2 | HG02148.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1776+248_1776+249i others(461): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(325): Show |
1 | a0001c0001t0002g0109 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1776+248_1776+249i others(334): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(405): Show |
1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1776+248_1776+249i others(414): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(407): Show |
28 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(25): Show | 28 | HG00280.hp1 HG00544.hp2 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.1776+248_1776+249i others(416): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(407): Show |
1 | a0001c0001t0002g0111 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1776+248_1776+249i others(416): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999935 | T | TGGGGGAC others(388): Show |
1 | a0001c0001t0002g0035 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1776+248_1776+249i others(397): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999935 | |||||
| chr21:45999945 | G | A | 1 | a0001c0001t0011g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1776+253G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999945 | ||||||
| chr21:45999962 | G | A | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1776+270G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 45999962 | ||||||
| chr21:45999971 | G | GATCATGG others(59): Show |
61 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(58): Show | 62 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(59): Show |
intron_variant | MODIFIER | c.1776+290_1776+291i others(68): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999971 | |||||
| chr21:45999971 | G | GATCATGG others(38): Show |
4 | a0002c0002t0001g0043a0002c0002t0009g0038a0002c0002t0009g0084others(1): Show | 4 | HG02572.hp1 HG02630.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1776+290_1776+291i others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999971 | |||||
| chr21:45999971 | G | GATCATGG others(59): Show |
38 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0037others(35): Show | 38 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.1776+290_1776+291i others(68): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999971 | |||||
| chr21:45999971 | G | GATCATGG others(201): Show |
1 | a0001c0001t0011g0125 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1776+286_1776+287i others(210): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr21 | 45999971 | |||||
| chr21:46000008 | C | T | 1 | a0004c0005t0001g0044 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1776+316C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000008 | ||||||
| chr21:46000024 | GA | G | 103 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(100): Show | 104 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1777-306delA | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000024 | ||||||
| chr21:46000026 | C | G | 103 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(100): Show | 104 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1777-305C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000026 | ||||||
| chr21:46000027 | C | A | 103 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(100): Show | 104 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1777-304C>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000027 | ||||||
| chr21:46000102 | G | A | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1777-229G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000102 | ||||||
| chr21:46000280 | C | T | 1 | a0001c0003t0006g0059 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1777-51C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 27/34 | chr21 | 46000280 | ||||||
| chr21:46000392 | T | G | 2 | a0001c0001t0002g0102a0001c0035t0002g0010 | 2 | HG01361.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1813+25T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | chr21 | 46000392 | ||||||
| chr21:46000504 | C | T | 37 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0040others(34): Show | 37 | HG00323.hp2 HG00544.hp1 HG00733.hp1 others(34): Show |
intron_variant | MODIFIER | c.1813+137C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | chr21 | 46000504 | ||||||
| chr21:46000598 | CCGGGGAG others(1): Show |
C | 9 | a0002c0002t0001g0037a0002c0002t0001g0119a0004c0005t0001g0041others(6): Show | 9 | HG01123.hp1 HG02145.hp2 HG03195.hp2 others(6): Show |
intron_variant | MODIFIER | c.1814-147_1814-140d others(10): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | 46000598 | |||||
| chr21:46000629 | G | A | 2 | a0001c0003t0003g0124a0011c0019t0003g0114 | 2 | HG01167.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1814-130G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | chr21 | 46000629 | ||||||
| chr21:46000641 | AGGCCGGG others(10): Show |
A | 6 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(3): Show | 6 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1814-108_1814-92de others(18): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | 46000641 | |||||
| chr21:46000651 | AGGAGGGC others(10): Show |
A | 98 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(95): Show | 99 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.1814-106_1814-90de others(18): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | 46000651 | |||||
| chr21:46000692 | A | AG | 4 | a0001c0010t0005g0072a0001c0012t0005g0073a0001c0012t0005g0074others(1): Show | 4 | HG02886.hp1 HG02922.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1814-67_1814-66ins others(1): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | chr21 | 46000692 | ||||||
| chr21:46000706 | G | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1814-53G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | chr21 | 46000706 | ||||||
| chr21:46000809 | G | C | 41 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0037others(38): Show | 41 | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.1822+42G>C | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000809 | ||||||
| chr21:46000812 | C | G | 98 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(95): Show | 99 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.1822+45C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000812 | ||||||
| chr21:46000812 | C | T | 6 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(3): Show | 6 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1822+45C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000812 | ||||||
| chr21:46000837 | C | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1822+70C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000837 | ||||||
| chr21:46000847 | G | A | 57 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(54): Show | 58 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.1822+80G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000847 | ||||||
| chr21:46000855 | A | G | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1822+88A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000855 | ||||||
| chr21:46000952 | C | T | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1822+185C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000952 | ||||||
| chr21:46000998 | G | A | 36 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(33): Show | 36 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.1822+231G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46000998 | ||||||
| chr21:46001054 | G | T | 6 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(3): Show | 6 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1823-199G>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46001054 | ||||||
| chr21:46001057 | A | G | 104 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(101): Show | 105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1823-196A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46001057 | ||||||
| chr21:46001070 | C | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1823-183C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46001070 | ||||||
| chr21:46001222 | C | T | 1 | a0001c0001t0002g0003 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1823-31C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 29/34 | chr21 | 46001222 | ||||||
| chr21:46001401 | C | T | 61 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(58): Show | 62 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(59): Show |
intron_variant | MODIFIER | c.1956+15C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001401 | ||||||
| chr21:46001491 | C | T | 1 | a0001c0001t0002g0079 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.1956+105C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001491 | ||||||
| chr21:46001507 | C | T | 1 | a0001c0001t0016g0100 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1956+121C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001507 | ||||||
| chr21:46001584 | C | T | 1 | a0001c0001t0002g0079 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.1956+198C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001584 | ||||||
| chr21:46001672 | T | G | 2 | a0002c0002t0010g0039a0002c0002t0010g0123 | 2 | HG02717.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.1956+286T>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001672 | ||||||
| chr21:46001879 | C | T | 36 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(33): Show | 36 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
intron_variant | MODIFIER | c.1957-82C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001879 | ||||||
| chr21:46001883 | G | A | 37 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(34): Show | 37 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(34): Show |
intron_variant | MODIFIER | c.1957-78G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001883 | ||||||
| chr21:46001950 | C | T | 35 | a0001c0001t0001g0065a0001c0001t0002g0004a0001c0001t0002g0007others(32): Show | 35 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.1957-11C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001950 | ||||||
| chr21:46001956 | C | T | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | splice_region_variant&intron_variant | LOW | c.1957-5C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 30/34 | chr21 | 46001956 | ||||||
| chr21:46002498 | C | T | 55 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(52): Show | 56 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.2251-29C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 32/34 | chr21 | 46002498 | ||||||
| chr21:46002718 | T | TGGGGCCG others(33): Show |
1 | a0001c0001t0002g0094 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2434+14_2434+15ins others(40): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr21 | 46002718 | |||||
| chr21:46002718 | TGGGGCCA others(33): Show |
T | 2 | a0001c0012t0005g0073a0001c0022t0007g0046 | 2 | HG02559.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2434+15_2434+54del others(40): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr21 | 46002718 | |||||
| chr21:46002725 | A | G | 102 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(99): Show | 103 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.2434+15A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002725 | ||||||
| chr21:46002730 | G | A | 37 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(34): Show | 37 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(34): Show |
intron_variant | MODIFIER | c.2434+20G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002730 | ||||||
| chr21:46002755 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2434+45G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002755 | ||||||
| chr21:46002755 | GCGCGGGG others(33): Show |
G | 3 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0003g0034 | 3 | HG01361.hp1 HG01981.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.2434+99_2434+138de others(41): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr21 | 46002755 | |||||
| chr21:46002765 | G | A | 34 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(31): Show | 34 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(31): Show |
intron_variant | MODIFIER | c.2434+55G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002765 | ||||||
| chr21:46002795 | A | G | 3 | a0001c0012t0005g0073a0001c0022t0007g0046a0013c0020t0002g0002 | 3 | HG02559.hp1 HG03195.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2434+85A>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002795 | ||||||
| chr21:46002798 | C | T | 59 | a0001c0001t0002g0094a0001c0007t0001g0001a0001c0007t0001g0063others(56): Show | 60 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.2434+88C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002798 | ||||||
| chr21:46002813 | AGTCCCAG others(34): Show |
A | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2434+116_2434+156d others(43): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr21 | 46002813 | |||||
| chr21:46002827 | G | A | 1 | a0002c0002t0001g0056 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2434+117G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002827 | ||||||
| chr21:46002991 | C | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2435-129C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46002991 | ||||||
| chr21:46003042 | G | A | 1 | a0001c0003t0002g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2435-78G>A | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46003042 | ||||||
| chr21:46003101 | C | T | 6 | a0001c0010t0005g0072a0001c0010t0005g0075a0001c0012t0005g0073others(3): Show | 6 | HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2435-19C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | chr21 | 46003101 | ||||||
| chr21:46003219 | C | G | 97 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(94): Show | 98 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.2464+70C>G | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 34/34 | chr21 | 46003219 | ||||||
| chr21:46003219 | C | T | 1 | a0013c0020t0002g0002 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2464+70C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 34/34 | chr21 | 46003219 | ||||||
| chr21:46003313 | C | T | 1 | a0001c0022t0007g0046 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2465-78C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 34/34 | chr21 | 46003313 | ||||||
| chr21:46003319 | C | T | 38 | a0001c0001t0001g0065a0001c0001t0002g0003a0001c0001t0002g0004others(35): Show | 38 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(35): Show |
intron_variant | MODIFIER | c.2465-72C>T | COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 34/34 | chr21 | 46003319 |