| geneid | 1295 |
|---|---|
| ensemblid | ENSG00000144810.16 |
| hgncid | 2215 |
| symbol | COL8A1 |
| name | collagen type VIII alpha 1 chain |
| refseq_nuc | NM_020351.4 |
| refseq_prot | NP_065084.2 |
| ensembl_nuc | ENST00000652472.1 |
| ensembl_prot | ENSP00000498483.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 99638594 |
| end | 99799217 |
| strand | + |
| ver | v1.2 |
| region | chr3:99638594-99799217 |
| region5000 | chr3:99633594-99804217 |
| regionname0 | COL8A1_chr3_99638594_99799217 |
| regionname5000 | COL8A1_chr3_99633594_99804217 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 744 | 261 | 74 | 52 | 84 | 12 | 37 | 60 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0002 | 0/0 | 744 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 2235 | 251 | 66 | 51 | 83 | 12 | 37 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0002 | 0/0 | 2235 | 5 | 5 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0003 | 0/0 | 2235 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0004 | 0/0 | 2235 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0005 | 0/0 | 2235 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0006 | 0/0 | 2235 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| c0007 | 0/0 | 2235 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 3277 | 99 | 23 | 21 | 38 | 5 | 11 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0002 | 1/0 | 3281 | 39 | 2 | 11 | 13 | 3 | 9 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0003 | 0/0 | 3279 | 24 | 3 | 2 | 17 | 0 | 2 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0004 | 0/0 | 3277 | 18 | 5 | 3 | 4 | 1 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0005 | 0/0 | 3281 | 16 | 2 | 6 | 3 | 0 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0006 | 0/0 | 3279 | 9 | 3 | 4 | 1 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0007 | 0/0 | 3277 | 6 | 5 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0008 | 0/0 | 3277 | 4 | 4 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0009 | 0/0 | 3277 | 4 | 0 | 1 | 2 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0010 | 0/0 | 3281 | 4 | 4 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0011 | 0/0 | 3277 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0012 | 0/0 | 3281 | 3 | 0 | 1 | 0 | 0 | 2 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0013 | 0/0 | 3281 | 3 | 2 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0014 | 0/0 | 3273 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0015 | 0/0 | 3275 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0016 | 0/0 | 3277 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0017 | 0/0 | 3277 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0018 | 0/0 | 3281 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0019 | 0/0 | 3281 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0020 | 0/0 | 3281 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0021 | 0/0 | 3281 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0022 | 0/0 | 3277 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0023 | 0/0 | 3281 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0024 | 0/0 | 3277 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0025 | 0/0 | 3277 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0026 | 0/0 | 3281 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0027 | 0/0 | 3279 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0028 | 0/0 | 3275 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0029 | 0/0 | 3279 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0030 | 0/0 | 3277 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0031 | 0/0 | 3281 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0032 | 0/0 | 3277 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0033 | 0/0 | 3279 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0034 | 0/0 | 3279 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0035 | 0/0 | 3277 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0036 | 0/0 | 3279 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| t0037 | 0/0 | 3281 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0003 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0081 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2235 | 251 | 66 | 51 | 83 | 12 | 37 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0002 | 0/0 | 2235 | 5 | 5 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0003 | 0/0 | 2235 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0004 | 0/0 | 2235 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0005 | 0/0 | 2235 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0007 | 0/0 | 2235 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0002c0006 | 0/0 | 2235 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 5511 | 96 | 23 | 20 | 37 | 5 | 10 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0002 | 1/0 | 5515 | 39 | 2 | 11 | 13 | 3 | 9 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0003 | 0/0 | 5513 | 24 | 3 | 2 | 17 | 0 | 2 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0004 | 0/0 | 5511 | 17 | 4 | 3 | 4 | 1 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0005 | 0/0 | 5515 | 16 | 2 | 6 | 3 | 0 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0006 | 0/0 | 5513 | 9 | 3 | 4 | 1 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0007 | 0/0 | 5511 | 6 | 5 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0008 | 0/0 | 5511 | 4 | 4 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0009 | 0/0 | 5511 | 4 | 0 | 1 | 2 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0011 | 0/0 | 5511 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0012 | 0/0 | 5515 | 3 | 0 | 1 | 0 | 0 | 2 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0013 | 0/0 | 5515 | 3 | 2 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0014 | 0/0 | 5507 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0015 | 0/0 | 5509 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0016 | 0/0 | 5511 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0017 | 0/0 | 5511 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0018 | 0/0 | 5515 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0019 | 0/0 | 5515 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0020 | 0/0 | 5515 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0021 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0022 | 0/0 | 5511 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0023 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0024 | 0/0 | 5511 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0025 | 0/0 | 5511 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0026 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0027 | 0/0 | 5513 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0028 | 0/0 | 5509 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0030 | 0/0 | 5511 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0032 | 0/0 | 5511 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0033 | 0/0 | 5513 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0034 | 0/0 | 5513 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0035 | 0/0 | 5511 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0001t0037 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0002t0010 | 0/0 | 5515 | 4 | 4 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0002t0031 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0003t0029 | 0/0 | 5513 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0003t0036 | 0/0 | 5513 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0004t0004 | 0/0 | 5511 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0005t0001 | 0/0 | 5511 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0001c0007t0001 | 0/0 | 5511 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| a0002c0006t0001 | 0/0 | 5511 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | copy fasta | chr3 | 99633594 | 99804217 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0081 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0008g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0008g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0008g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0008g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0012g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0012g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0012g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0013g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0013g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0013g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0014g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0014g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0014g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0015g0003 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0016g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0016g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0017g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0017g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0018g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0018g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0019g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0020g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0021g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0022g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0023g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0024g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0025g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0026g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0027g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0028g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0030g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0032g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0033g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0034g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0035g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0037g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0010g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0010g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0010g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0010g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0031g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0003t0029g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0003t0036g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0004t0004g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0005t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0007t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0002c0006t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0247 | EUR | GBR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0119 | EUR | GBR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0131 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0103 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0184 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0168 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00438 | hp1 | a0001 | c0001 | t0018 | g0079 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00438 | hp2 | a0001 | c0001 | t0005 | g0171 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0245 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00544 | hp2 | a0001 | c0001 | t0003 | g0186 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00597 | hp1 | a0001 | c0001 | t0003 | g0192 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00597 | hp2 | a0001 | c0001 | t0005 | g0024 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00639 | hp1 | a0001 | c0001 | t0006 | g0210 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00735 | hp2 | a0001 | c0001 | t0004 | g0074 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00738 | hp2 | a0001 | c0001 | t0005 | g0089 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00741 | hp1 | a0001 | c0001 | t0005 | g0092 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0154 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0062 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01074 | hp2 | a0001 | c0001 | t0012 | g0159 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01109 | hp1 | a0001 | c0001 | t0004 | g0070 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0109 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01168 | hp2 | a0001 | c0001 | t0004 | g0078 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0102 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0027 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01256 | hp1 | a0001 | c0001 | t0005 | g0067 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01257 | hp1 | a0001 | c0001 | t0003 | g0172 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0060 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01258 | hp1 | a0001 | c0001 | t0003 | g0173 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01346 | hp2 | a0001 | c0001 | t0005 | g0014 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01361 | hp1 | a0001 | c0001 | t0005 | g0080 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0170 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0057 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01433 | hp2 | a0001 | c0001 | t0005 | g0066 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0122 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01516 | hp2 | a0001 | c0001 | t0015 | g0003 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01517 | hp1 | a0001 | c0001 | t0015 | g0003 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01517 | hp2 | a0001 | c0001 | t0022 | g0182 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01891 | hp2 | a0001 | c0001 | t0037 | g0231 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01934 | hp1 | a0001 | c0001 | t0006 | g0026 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01934 | hp2 | a0001 | c0001 | t0019 | g0179 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0227 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01952 | hp1 | a0001 | c0001 | t0009 | g0083 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01952 | hp2 | a0001 | c0001 | t0007 | g0025 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0135 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01978 | hp1 | a0001 | c0001 | t0006 | g0228 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01978 | hp2 | a0001 | c0001 | t0030 | g0072 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02027 | hp1 | a0001 | c0001 | t0003 | g0187 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02027 | hp2 | a0001 | c0001 | t0020 | g0241 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02055 | hp1 | a0001 | c0001 | t0028 | g0225 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0232 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0127 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02080 | hp2 | a0001 | c0001 | t0018 | g0075 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0250 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02083 | hp2 | a0001 | c0001 | t0027 | g0095 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02129 | hp1 | a0001 | c0001 | t0004 | g0012 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0238 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0240 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0218 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02148 | hp1 | a0001 | c0005 | t0001 | g0115 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0202 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02257 | hp1 | a0001 | c0003 | t0029 | g0011 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02257 | hp2 | a0001 | c0001 | t0035 | g0138 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02280 | hp1 | a0001 | c0001 | t0026 | g0156 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0176 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0169 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02293 | hp2 | a0001 | c0001 | t0006 | g0229 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02523 | hp2 | a0001 | c0001 | t0034 | g0193 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02602 | hp2 | a0001 | c0001 | t0003 | g0133 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02615 | hp1 | a0001 | c0001 | t0003 | g0212 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02630 | hp2 | a0001 | c0002 | t0010 | g0042 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02683 | hp1 | a0001 | c0001 | t0004 | g0094 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0059 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0118 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02698 | hp2 | a0001 | c0001 | t0002 | g0134 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0224 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02723 | hp1 | a0001 | c0001 | t0005 | g0233 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02723 | hp2 | a0001 | c0001 | t0011 | g0257 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02735 | hp1 | a0001 | c0001 | t0003 | g0152 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0132 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02738 | hp1 | a0001 | c0001 | t0005 | g0090 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0148 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02809 | hp1 | a0001 | c0001 | t0014 | g0047 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0235 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02818 | hp1 | a0001 | c0001 | t0006 | g0207 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02818 | hp2 | a0001 | c0001 | t0017 | g0050 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02886 | hp1 | a0001 | c0001 | t0016 | g0021 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0211 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0208 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02895 | hp2 | a0001 | c0001 | t0008 | g0151 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02896 | hp1 | a0001 | c0001 | t0003 | g0150 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02896 | hp2 | a0001 | c0001 | t0013 | g0084 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02922 | hp2 | a0001 | c0001 | t0007 | g0045 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02970 | hp1 | a0001 | c0003 | t0036 | g0213 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02970 | hp2 | a0001 | c0001 | t0007 | g0155 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02976 | hp1 | a0001 | c0001 | t0008 | g0256 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02976 | hp2 | a0001 | c0001 | t0004 | g0201 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03017 | hp1 | a0001 | c0001 | t0009 | g0106 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0251 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0223 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03041 | hp2 | a0001 | c0001 | t0007 | g0255 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03139 | hp1 | a0001 | c0002 | t0031 | g0199 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03139 | hp2 | a0001 | c0001 | t0008 | g0046 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03209 | hp1 | a0001 | c0001 | t0014 | g0205 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0157 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0236 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03239 | hp1 | a0001 | c0001 | t0006 | g0221 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03239 | hp2 | a0001 | c0001 | t0005 | g0140 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03486 | hp1 | a0001 | c0001 | t0023 | g0037 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03486 | hp2 | a0001 | c0001 | t0003 | g0149 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03492 | hp1 | a0001 | c0001 | t0004 | g0214 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0177 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03516 | hp1 | a0001 | c0001 | t0011 | g0052 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03516 | hp2 | a0001 | c0002 | t0010 | g0041 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0053 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03540 | hp2 | a0001 | c0001 | t0017 | g0258 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03579 | hp1 | a0001 | c0002 | t0010 | g0040 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0249 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03669 | hp2 | a0001 | c0001 | t0005 | g0091 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03704 | hp2 | a0001 | c0001 | t0004 | g0071 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0117 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03831 | hp2 | a0001 | c0001 | t0004 | g0158 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0215 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0018 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03927 | hp1 | a0001 | c0001 | t0012 | g0142 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03927 | hp2 | a0002 | c0006 | t0001 | g0087 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04115 | hp1 | a0001 | c0001 | t0005 | g0125 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04115 | hp2 | a0001 | c0001 | t0012 | g0141 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04184 | hp1 | a0001 | c0001 | t0033 | g0015 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0252 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0167 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04204 | hp2 | a0001 | c0001 | t0004 | g0093 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04228 | hp2 | a0001 | c0001 | t0013 | g0128 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0206 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18522 | hp2 | a0001 | c0001 | t0016 | g0020 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0248 | EAS | CHB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | CHB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18906 | hp2 | a0001 | c0001 | t0007 | g0220 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18942 | hp1 | a0001 | c0001 | t0004 | g0076 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18942 | hp2 | a0001 | c0001 | t0003 | g0198 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0164 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18943 | hp2 | a0001 | c0007 | t0001 | g0082 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18952 | hp1 | a0001 | c0001 | t0005 | g0019 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18952 | hp2 | a0001 | c0001 | t0003 | g0196 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0162 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18969 | hp1 | a0001 | c0001 | t0003 | g0194 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0136 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18971 | hp2 | a0001 | c0001 | t0003 | g0130 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0163 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18980 | hp1 | a0001 | c0001 | t0003 | g0188 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0242 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18981 | hp2 | a0001 | c0001 | t0032 | g0017 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18990 | hp2 | a0001 | c0001 | t0003 | g0190 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19004 | hp1 | a0001 | c0001 | t0003 | g0088 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0197 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19007 | hp1 | a0001 | c0001 | t0002 | g0239 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19007 | hp2 | a0001 | c0001 | t0006 | g0129 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19009 | hp2 | a0001 | c0001 | t0003 | g0195 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19030 | hp1 | a0001 | c0001 | t0006 | g0226 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19030 | hp2 | a0001 | c0001 | t0025 | g0219 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19043 | hp1 | a0001 | c0001 | t0013 | g0032 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19043 | hp2 | a0001 | c0001 | t0004 | g0253 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19054 | hp2 | a0001 | c0001 | t0003 | g0185 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19056 | hp2 | a0001 | c0001 | t0004 | g0121 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19063 | hp2 | a0001 | c0001 | t0003 | g0203 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19064 | hp2 | a0001 | c0001 | t0003 | g0200 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19074 | hp2 | a0001 | c0001 | t0004 | g0204 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19075 | hp2 | a0001 | c0001 | t0009 | g0022 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0191 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19085 | hp2 | a0001 | c0001 | t0009 | g0013 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19091 | hp2 | a0001 | c0001 | t0003 | g0189 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | ASW | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20129 | hp2 | a0001 | c0001 | t0021 | g0086 | AFR | ASW | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0144 | EUR | TSI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20752 | hp2 | a0001 | c0001 | t0004 | g0073 | EUR | TSI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0010 | SAS | GIH | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20905 | hp2 | a0001 | c0001 | t0005 | g0028 | SAS | GIH | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02109 | hp1 | a0001 | c0002 | t0010 | g0039 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02109 | hp2 | a0001 | c0001 | t0011 | g0222 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02486 | hp1 | a0001 | c0001 | t0024 | g0123 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02486 | hp2 | a0001 | c0001 | t0007 | g0166 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02559 | hp2 | a0001 | c0001 | t0008 | g0139 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03471 | hp1 | a0001 | c0001 | t0014 | g0005 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20300 | hp1 | a0001 | c0004 | t0004 | g0254 | AFR | USA | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0234 | AFR | USA | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0126 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0081 | REF | REF | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0049 | REF | REF | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99795130
|
C | G | 1 | a0002 | 1 | HG03927.hp2 | missense_variant | MODERATE | c.1229C>G | p.Pro410Arg | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1428/5515 | 1229/2235 | 410/744 | chr3 | 99795130 | ||
| chr3:99795584
|
C | CCCAGGCC others(2): Show |
1 | a0001 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
disruptive_inframe_insertion | MODERATE | c.1689_1697dupCCCTCC others(3): Show |
p.Gly566_Pro567insPr others(7): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1897/5515 | 1698/2235 | 566/744 | INFO_REALIGN_3_PRIME | chr3 | 99795584 | |
| chr3:99795590
|
CCCTCCAG others(2): Show |
C | 1 | a0001 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
disruptive_inframe_deletion | MODERATE | c.1701_1709delTCCAGG others(3): Show |
p.Pro568_Pro570del | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1900/5515 | 1701/2235 | 567/744 | INFO_REALIGN_3_PRIME | chr3 | 99795590 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99794801
|
T | A | 1 | a0001c0004 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.900T>A | p.Pro300Pro | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1099/5515 | 900/2235 | 300/744 | chr3 | 99794801 | ||
| chr3:99794913
|
C | T | 1 | a0001c0002 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
synonymous_variant | LOW | c.1012C>T | p.Leu338Leu | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1211/5515 | 1012/2235 | 338/744 | chr3 | 99794913 | ||
| chr3:99794939
|
C | T | 1 | a0001c0007 | 1 | NA18943.hp2 | synonymous_variant | LOW | c.1038C>T | p.Gly346Gly | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1237/5515 | 1038/2235 | 346/744 | chr3 | 99794939 | ||
| chr3:99795338
|
C | T | 1 | a0001c0003 | 2 | HG02257.hp1 HG02970.hp1 |
synonymous_variant | LOW | c.1437C>T | p.Leu479Leu | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1636/5515 | 1437/2235 | 479/744 | chr3 | 99795338 | ||
| chr3:99795647
|
A | C | 1 | a0001c0005 | 1 | HG02148.hp1 | synonymous_variant | LOW | c.1746A>C | p.Gly582Gly | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1945/5515 | 1746/2235 | 582/744 | chr3 | 99795647 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99744966
|
G | T | 14 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(11): Show | 66 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(63): Show |
5_prime_UTR_variant | MODIFIER | c.-59G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/4 | 45717 | chr3 | 99744966 | |||||
| chr3:99744988
|
T | C | 1 | a0001c0001t0033 | 1 | HG04184.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-37T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/4 | chr3 | 99744988 | ||||||
| chr3:99796237
|
C | T | 2 | a0001c0001t0014a0001c0001t0037 | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*101C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 101 | chr3 | 99796237 | |||||
| chr3:99796325
|
C | G | 1 | a0001c0001t0032 | 1 | NA18981.hp2 | 3_prime_UTR_variant | MODIFIER | c.*189C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 189 | chr3 | 99796325 | |||||
| chr3:99796350
|
A | G | 1 | a0001c0001t0007 | 6 | HG01952.hp2 HG02486.hp2 HG02922.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*214A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 214 | chr3 | 99796350 | |||||
| chr3:99796490
|
C | T | 2 | a0001c0002t0010a0001c0002t0031 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*354C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 354 | chr3 | 99796490 | |||||
| chr3:99796527
|
T | C | 1 | a0001c0001t0037 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*391T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 391 | chr3 | 99796527 | |||||
| chr3:99796712
|
A | G | 2 | a0001c0001t0005a0001c0001t0018 | 18 | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*576A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 576 | chr3 | 99796712 | |||||
| chr3:99796876
|
G | A | 1 | a0001c0001t0015 | 2 | HG01516.hp2 HG01517.hp1 |
3_prime_UTR_variant | MODIFIER | c.*740G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 740 | chr3 | 99796876 | |||||
| chr3:99796906
|
A | G | 29 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | 189 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(186): Show |
3_prime_UTR_variant | MODIFIER | c.*770A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 770 | chr3 | 99796906 | |||||
| chr3:99797216
|
C | T | 1 | a0001c0001t0030 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1080C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1080 | chr3 | 99797216 | |||||
| chr3:99797248
|
A | G | 2 | a0001c0001t0014a0001c0001t0037 | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1112A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1112 | chr3 | 99797248 | |||||
| chr3:99797335
|
C | T | 2 | a0001c0003t0029a0001c0003t0036 | 2 | HG02257.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1199C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1199 | chr3 | 99797335 | |||||
| chr3:99797425
|
C | A | 2 | a0001c0003t0029a0001c0003t0036 | 2 | HG02257.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1289C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1289 | chr3 | 99797425 | |||||
| chr3:99797534
|
A | C | 1 | a0001c0001t0037 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1398A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1398 | chr3 | 99797534 | |||||
| chr3:99797742
|
G | A | 1 | a0001c0001t0023 | 1 | HG03486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1606G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1606 | chr3 | 99797742 | |||||
| chr3:99797812
|
C | T | 1 | a0001c0001t0007 | 6 | HG01952.hp2 HG02486.hp2 HG02922.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1676C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1676 | chr3 | 99797812 | |||||
| chr3:99797847
|
C | G | 2 | a0001c0001t0014a0001c0001t0037 | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1711C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1711 | chr3 | 99797847 | |||||
| chr3:99798002
|
G | A | 1 | a0001c0001t0024 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1866G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1866 | chr3 | 99798002 | |||||
| chr3:99798035
|
A | G | 19 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(16): Show | 66 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(63): Show |
3_prime_UTR_variant | MODIFIER | c.*1899A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1899 | chr3 | 99798035 | |||||
| chr3:99798035
|
A | T | 16 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | 134 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
3_prime_UTR_variant | MODIFIER | c.*1899A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1899 | chr3 | 99798035 | |||||
| chr3:99798061
|
G | A | 1 | a0001c0001t0019 | 1 | HG01934.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1925G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1925 | chr3 | 99798061 | |||||
| chr3:99798117
|
T | C | 1 | a0001c0002t0010 | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1981T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1981 | chr3 | 99798117 | |||||
| chr3:99798118
|
C | A | 16 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | 134 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
3_prime_UTR_variant | MODIFIER | c.*1982C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1982 | chr3 | 99798118 | |||||
| chr3:99798237
|
G | A | 1 | a0001c0001t0014 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2101G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2101 | chr3 | 99798237 | |||||
| chr3:99798336
|
T | C | 1 | a0001c0001t0034 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2200T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2200 | chr3 | 99798336 | |||||
| chr3:99798430
|
T | C | 1 | a0001c0001t0035 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2294T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2294 | chr3 | 99798430 | |||||
| chr3:99798614
|
ATATATGT others(1): Show |
A | 1 | a0001c0001t0014 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2480_*2487delATAT others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2480 | INFO_REALIGN_3_PRIME | chr3 | 99798614 | ||||
| chr3:99798616
|
ATATG | A | 5 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(2): Show | 17 | HG01952.hp1 HG01952.hp2 HG02257.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*2482_*2485delATGT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2482 | INFO_REALIGN_3_PRIME | chr3 | 99798616 | ||||
| chr3:99798616
|
ATATGTG | A | 2 | a0001c0001t0015a0001c0001t0028 | 3 | HG01516.hp2 HG01517.hp1 HG02055.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2482_*2487delATGT others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2482 | INFO_REALIGN_3_PRIME | chr3 | 99798616 | ||||
| chr3:99798618
|
ATG | A | 7 | a0001c0001t0003a0001c0001t0006a0001c0001t0027others(4): Show | 38 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*2501_*2502delTG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2501 | INFO_REALIGN_3_PRIME | chr3 | 99798618 | ||||
| chr3:99798618
|
ATGTG | A | 13 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(10): Show | 127 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(124): Show |
3_prime_UTR_variant | MODIFIER | c.*2499_*2502delTGTG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2499 | INFO_REALIGN_3_PRIME | chr3 | 99798618 | ||||
| chr3:99798622
|
G | A | 1 | a0001c0001t0027 | 1 | HG02083.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2486G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2486 | chr3 | 99798622 | |||||
| chr3:99798633
|
T | C | 1 | a0001c0001t0011 | 3 | HG02109.hp2 HG02723.hp2 HG03516.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2497T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2497 | chr3 | 99798633 | |||||
| chr3:99798637
|
T | C | 2 | a0001c0001t0014a0001c0001t0016 | 5 | HG02809.hp1 HG02886.hp1 HG03209.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2501T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2501 | chr3 | 99798637 | |||||
| chr3:99798640
|
G | A | 1 | a0001c0001t0014 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2504G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2504 | chr3 | 99798640 | |||||
| chr3:99798668
|
G | A | 1 | a0001c0001t0030 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2532G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2532 | chr3 | 99798668 | |||||
| chr3:99798706
|
A | G | 1 | a0001c0003t0029 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2570A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2570 | chr3 | 99798706 | |||||
| chr3:99798845
|
T | A | 1 | a0001c0001t0020 | 1 | HG02027.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2709T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2709 | chr3 | 99798845 | |||||
| chr3:99799094
|
G | A | 2 | a0001c0002t0010a0001c0002t0031 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2958G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2958 | chr3 | 99799094 | |||||
| chr3:99799112
|
T | C | 1 | a0001c0001t0021 | 1 | NA20129.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2976T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2976 | chr3 | 99799112 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99638920
|
G | A | 2 | a0001c0001t0001g0006a0001c0001t0014g0005 | 2 | HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+256G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99638920 | ||||||
| chr3:99638945
|
C | A | 31 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(28): Show | 31 | HG00597.hp2 HG00735.hp1 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+281C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99638945 | ||||||
| chr3:99639005
|
A | G | 4 | a0001c0001t0007g0255a0001c0001t0008g0256a0001c0001t0011g0257others(1): Show | 4 | HG02723.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+341A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639005 | ||||||
| chr3:99639115
|
C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+451C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639115 | ||||||
| chr3:99639364
|
T | A | 1 | a0001c0001t0001g0038 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-129+700T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639364 | ||||||
| chr3:99639449
|
G | A | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+785G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639449 | ||||||
| chr3:99639523
|
C | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+859C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639523 | ||||||
| chr3:99639555
|
C | T | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+891C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639555 | ||||||
| chr3:99639675
|
G | A | 3 | a0001c0001t0001g0153a0001c0001t0002g0154a0001c0001t0003g0152 | 3 | HG00741.hp2 HG01192.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.-129+1011G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639675 | ||||||
| chr3:99639695
|
C | T | 111 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(108): Show | 112 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.-129+1031C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639695 | ||||||
| chr3:99639805
|
C | T | 3 | a0001c0001t0004g0157a0001c0001t0007g0155a0001c0001t0026g0156 | 3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+1141C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639805 | ||||||
| chr3:99639868
|
G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+1204G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639868 | ||||||
| chr3:99639869
|
G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+1205G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639869 | ||||||
| chr3:99639953
|
G | A | 1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-129+1289G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639953 | ||||||
| chr3:99639977
|
T | C | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+1313T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639977 | ||||||
| chr3:99640080
|
G | C | 45 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(42): Show | 45 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.-129+1416G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640080 | ||||||
| chr3:99640132
|
C | T | 248 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(245): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.-129+1468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640132 | ||||||
| chr3:99640524
|
T | C | 46 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(43): Show | 46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+1860T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640524 | ||||||
| chr3:99640557
|
G | A | 2 | a0001c0001t0001g0206a0001c0001t0014g0205 | 2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+1893G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640557 | ||||||
| chr3:99640607
|
G | A | 2 | a0001c0001t0001g0054a0001c0001t0001g0055 | 2 | NA18971.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-129+1943G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640607 | ||||||
| chr3:99640706
|
G | A | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-129+2042G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640706 | ||||||
| chr3:99640783
|
G | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+2119G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640783 | ||||||
| chr3:99640999
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+2335G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640999 | ||||||
| chr3:99641045
|
A | G | 46 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(43): Show | 46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+2381A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641045 | ||||||
| chr3:99641198
|
G | C | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+2534G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641198 | ||||||
| chr3:99641389
|
C | G | 24 | a0001c0001t0001g0004a0001c0001t0001g0234a0001c0001t0001g0235others(21): Show | 25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+2725C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641389 | ||||||
| chr3:99641696
|
AC | A | 3 | a0001c0001t0001g0206a0001c0001t0001g0209a0001c0001t0014g0205 | 3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+3033delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641696 | ||||||
| chr3:99641778
|
C | A | 3 | a0001c0001t0004g0157a0001c0001t0007g0155a0001c0001t0026g0156 | 3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+3114C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641778 | ||||||
| chr3:99641901
|
A | G | 23 | a0001c0001t0001g0043a0001c0001t0001g0153a0001c0001t0001g0215others(20): Show | 23 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+3237A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641901 | ||||||
| chr3:99642113
|
C | G | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+3449C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642113 | ||||||
| chr3:99642328
|
G | A | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-129+3664G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642328 | ||||||
| chr3:99642364
|
C | T | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+3700C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642364 | ||||||
| chr3:99642388
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0206a0001c0001t0001g0209others(5): Show | 8 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+3724G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642388 | ||||||
| chr3:99642389
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0206a0001c0001t0001g0209others(5): Show | 8 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+3725C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642389 | ||||||
| chr3:99642653
|
G | A | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-129+3989G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642653 | ||||||
| chr3:99643225
|
G | A | 46 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(43): Show | 46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+4561G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643225 | ||||||
| chr3:99643245
|
A | G | 1 | a0001c0001t0008g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-129+4581A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643245 | ||||||
| chr3:99643247
|
A | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+4583A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643247 | ||||||
| chr3:99643488
|
T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+4824T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643488 | ||||||
| chr3:99643614
|
A | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+4950A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643614 | ||||||
| chr3:99643726
|
C | T | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-129+5062C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643726 | ||||||
| chr3:99644092
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+5428A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644092 | ||||||
| chr3:99644149
|
A | G | 2 | a0001c0001t0011g0257a0001c0001t0017g0258 | 2 | HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+5485A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644149 | ||||||
| chr3:99644198
|
T | C | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+5534T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644198 | ||||||
| chr3:99644385
|
C | A | 21 | a0001c0001t0001g0153a0001c0001t0001g0215a0001c0001t0001g0216others(18): Show | 21 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(18): Show |
intron_variant | MODIFIER | c.-129+5721C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644385 | ||||||
| chr3:99644704
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+6040A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644704 | ||||||
| chr3:99644765
|
G | C | 8 | a0001c0001t0007g0255a0001c0001t0008g0256a0001c0001t0011g0257others(5): Show | 8 | HG02109.hp1 HG02630.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+6101G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644765 | ||||||
| chr3:99644922
|
T | A | 1 | a0001c0001t0012g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-129+6258T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644922 | ||||||
| chr3:99645080
|
C | T | 3 | a0001c0001t0004g0157a0001c0001t0007g0155a0001c0001t0026g0156 | 3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+6416C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645080 | ||||||
| chr3:99645134
|
T | C | 3 | a0001c0001t0004g0157a0001c0001t0007g0155a0001c0001t0026g0156 | 3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+6470T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645134 | ||||||
| chr3:99645141
|
T | G | 45 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(42): Show | 46 | HG00597.hp2 HG00639.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+6477T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645141 | ||||||
| chr3:99645302
|
A | G | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-129+6638A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645302 | ||||||
| chr3:99645303
|
T | TAAGATTA others(331): Show |
1 | a0001c0001t0006g0211 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(342): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | |||||
| chr3:99645303
|
T | TAAGATTA others(338): Show |
1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(349): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | |||||
| chr3:99645303
|
T | TAAGATTA others(349): Show |
1 | a0001c0001t0006g0210 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(360): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | |||||
| chr3:99645324
|
C | T | 1 | a0001c0002t0010g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-129+6660C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645324 | ||||||
| chr3:99645426
|
A | G | 46 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(43): Show | 46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+6762A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645426 | ||||||
| chr3:99645598
|
AT | A | 3 | a0001c0001t0001g0206a0001c0001t0001g0209a0001c0001t0014g0205 | 3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+6937delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645598 | |||||
| chr3:99645696
|
T | A | 3 | a0001c0001t0001g0234a0001c0001t0004g0208a0001c0001t0005g0233 | 3 | HG02723.hp1 HG02895.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+7032T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645696 | ||||||
| chr3:99645696
|
T | TA | 53 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(50): Show | 55 | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(52): Show |
intron_variant | MODIFIER | c.-129+7048dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645696 | |||||
| chr3:99645696
|
TA | T | 8 | a0001c0001t0001g0035a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | HG01169.hp1 HG02602.hp1 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+7048delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645696 | |||||
| chr3:99645697
|
A | T | 2 | a0001c0001t0001g0036a0001c0001t0001g0230 | 2 | HG03471.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.-129+7033A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645697 | ||||||
| chr3:99645775
|
T | C | 3 | a0001c0001t0001g0206a0001c0001t0001g0209a0001c0001t0014g0205 | 3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+7111T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645775 | ||||||
| chr3:99645782
|
T | C | 111 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(108): Show | 112 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.-129+7118T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645782 | ||||||
| chr3:99646084
|
G | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(25): Show | 28 | HG00597.hp2 HG00735.hp1 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.-129+7420G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646084 | ||||||
| chr3:99646331
|
T | C | 25 | a0001c0001t0001g0043a0001c0001t0001g0153a0001c0001t0001g0215others(22): Show | 25 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+7667T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646331 | ||||||
| chr3:99646434
|
T | A | 6 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0002g0160others(3): Show | 6 | NA18943.hp1 NA18953.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+7770T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646434 | ||||||
| chr3:99646436
|
G | A | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+7772G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646436 | ||||||
| chr3:99646499
|
A | G | 2 | a0001c0001t0001g0234a0001c0001t0005g0233 | 2 | HG02723.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+7835A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646499 | ||||||
| chr3:99646746
|
C | A | 13 | a0001c0001t0001g0006a0001c0001t0006g0207a0001c0001t0006g0210others(10): Show | 13 | HG00639.hp1 HG02109.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+8082C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646746 | ||||||
| chr3:99646788
|
T | C | 4 | a0001c0001t0001g0234a0001c0001t0004g0208a0001c0001t0005g0233others(1): Show | 4 | HG01891.hp2 HG02723.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+8124T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646788 | ||||||
| chr3:99646824
|
A | G | 1 | a0001c0001t0002g0010 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-129+8160A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646824 | ||||||
| chr3:99646833
|
C | T | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+8169C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646833 | ||||||
| chr3:99646873
|
C | T | 25 | a0001c0001t0001g0043a0001c0001t0001g0153a0001c0001t0001g0215others(22): Show | 25 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+8209C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646873 | ||||||
| chr3:99646895
|
C | G | 1 | a0001c0001t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-129+8231C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646895 | ||||||
| chr3:99647021
|
G | A | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+8357G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647021 | ||||||
| chr3:99647234
|
G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+8570G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647234 | ||||||
| chr3:99647348
|
C | A | 248 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(245): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.-129+8684C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647348 | ||||||
| chr3:99647389
|
G | T | 2 | a0001c0001t0001g0006a0001c0001t0014g0005 | 2 | HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+8725G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647389 | ||||||
| chr3:99647475
|
G | GTC | 34 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0174others(31): Show | 34 | HG00323.hp2 HG00438.hp2 HG01069.hp1 others(31): Show |
intron_variant | MODIFIER | c.-129+8834_-129+883 others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99647475 | |||||
| chr3:99647605
|
C | T | 2 | a0001c0001t0004g0157a0001c0001t0026g0156 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+8941C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647605 | ||||||
| chr3:99647615
|
T | C | 25 | a0001c0001t0001g0004a0001c0001t0001g0234a0001c0001t0001g0235others(22): Show | 26 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+8951T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647615 | ||||||
| chr3:99647777
|
G | A | 2 | a0001c0001t0004g0157a0001c0001t0026g0156 | 2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+9113G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647777 | ||||||
| chr3:99647987
|
C | A | 113 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(110): Show | 114 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.-129+9323C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647987 | ||||||
| chr3:99648121
|
C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+9457C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648121 | ||||||
| chr3:99648250
|
G | A | 2 | a0001c0001t0007g0166a0001c0001t0012g0159 | 2 | HG01074.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.-129+9586G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648250 | ||||||
| chr3:99648319
|
G | A | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+9655G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648319 | ||||||
| chr3:99648469
|
T | C | 1 | a0001c0001t0001g0081 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-129+9805T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648469 | ||||||
| chr3:99648670
|
A | G | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-129+10006A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648670 | ||||||
| chr3:99648683
|
A | G | 2 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | HG02080.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.-129+10019A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648683 | ||||||
| chr3:99648866
|
G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+10202G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648866 | ||||||
| chr3:99648868
|
G | A | 24 | a0001c0001t0001g0004a0001c0001t0001g0234a0001c0001t0001g0235others(21): Show | 25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+10204G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648868 | ||||||
| chr3:99648871
|
T | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+10207T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648871 | ||||||
| chr3:99649025
|
T | C | 114 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(111): Show | 115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+10361T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649025 | ||||||
| chr3:99649068
|
T | C | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-129+10404T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649068 | ||||||
| chr3:99649183
|
C | T | 26 | a0001c0001t0001g0043a0001c0001t0001g0153a0001c0001t0001g0206others(23): Show | 26 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+10519C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649183 | ||||||
| chr3:99649279
|
C | T | 110 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(107): Show | 111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10615C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649279 | ||||||
| chr3:99649396
|
A | G | 110 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(107): Show | 111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10732A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649396 | ||||||
| chr3:99649400
|
A | G | 110 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0043others(107): Show | 111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10736A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649400 | ||||||
| chr3:99649432
|
A | T | 2 | a0001c0001t0002g0202a0001c0001t0019g0179 | 2 | HG01934.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.-129+10768A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649432 | ||||||
| chr3:99649656
|
A | G | 1 | a0001c0001t0002g0249 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-129+10992A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649656 | ||||||
| chr3:99649787
|
T | TCA | 4 | a0001c0001t0001g0085a0001c0001t0009g0083a0001c0001t0013g0084others(1): Show | 4 | HG01175.hp1 HG01952.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11140_-129+11 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99649787 | |||||
| chr3:99649792
|
C | T | 3 | a0001c0001t0002g0227a0001c0001t0006g0228a0001c0001t0006g0229 | 3 | HG01943.hp1 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-129+11128C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649792 | ||||||
| chr3:99649805
|
A | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-129+11141A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649805 | ||||||
| chr3:99649970
|
C | A | 1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-129+11306C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649970 | ||||||
| chr3:99650007
|
GAACA | G | 4 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0012g0141others(1): Show | 4 | HG01943.hp2 HG03927.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11348_-129+11 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99650007 | |||||
| chr3:99650159
|
T | C | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11495T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650159 | ||||||
| chr3:99650305
|
G | A | 248 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(245): Show | 252 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.-129+11641G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650305 | ||||||
| chr3:99650505
|
G | T | 4 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(1): Show | 4 | HG00735.hp1 HG02559.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+11841G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650505 | ||||||
| chr3:99650547
|
G | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+11883G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650547 | ||||||
| chr3:99650772
|
T | C | 1 | a0001c0001t0001g0180 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-129+12108T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650772 | ||||||
| chr3:99650977
|
C | T | 25 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0178others(22): Show | 26 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+12313C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650977 | ||||||
| chr3:99651200
|
ATCTCATT others(4): Show |
A | 2 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+12538_-129+12 others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99651200 | |||||
| chr3:99651235
|
T | C | 1 | a0001c0001t0008g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-129+12571T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651235 | ||||||
| chr3:99651255
|
T | C | 26 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0056others(23): Show | 27 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.-129+12591T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651255 | ||||||
| chr3:99651481
|
C | T | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+12817C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651481 | ||||||
| chr3:99651496
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-129+12832G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651496 | ||||||
| chr3:99651502
|
A | G | 26 | a0001c0001t0001g0085a0001c0001t0001g0153a0001c0001t0001g0215others(23): Show | 26 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+12838A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651502 | ||||||
| chr3:99651503
|
G | A | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+12839G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651503 | ||||||
| chr3:99651750
|
G | A | 1 | a0001c0001t0002g0167 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-129+13086G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651750 | ||||||
| chr3:99651760
|
C | T | 26 | a0001c0001t0001g0085a0001c0001t0001g0153a0001c0001t0001g0215others(23): Show | 26 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+13096C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651760 | ||||||
| chr3:99651796
|
G | A | 4 | a0001c0001t0007g0255a0001c0001t0008g0256a0001c0001t0011g0257others(1): Show | 4 | HG02723.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+13132G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651796 | ||||||
| chr3:99651853
|
C | G | 1 | a0001c0001t0001g0030 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-129+13189C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651853 | ||||||
| chr3:99651916
|
C | T | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+13252C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651916 | ||||||
| chr3:99651933
|
G | A | 2 | a0001c0001t0004g0070a0001c0001t0004g0071 | 2 | HG01109.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-129+13269G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651933 | ||||||
| chr3:99651938
|
A | G | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+13274A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651938 | ||||||
| chr3:99652132
|
C | T | 1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-129+13468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652132 | ||||||
| chr3:99652353
|
C | T | 2 | a0001c0001t0003g0149a0001c0001t0003g0150 | 2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+13689C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652353 | ||||||
| chr3:99652473
|
G | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+13809G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652473 | ||||||
| chr3:99652544
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0150 | 2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+13880G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652544 | ||||||
| chr3:99652615
|
A | G | 1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-129+13951A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652615 | ||||||
| chr3:99652688
|
C | T | 126 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 129 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.-129+14024C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652688 | ||||||
| chr3:99652864
|
G | A | 126 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(123): Show | 129 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.-129+14200G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652864 | ||||||
| chr3:99652876
|
C | T | 1 | a0001c0001t0001g0029 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-129+14212C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652876 | ||||||
| chr3:99652937
|
G | A | 52 | a0001c0001t0001g0147a0001c0001t0001g0161a0001c0001t0001g0165others(49): Show | 52 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.-129+14273G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652937 | ||||||
| chr3:99652951
|
A | G | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+14287A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652951 | ||||||
| chr3:99653015
|
A | G | 1 | a0001c0001t0001g0137 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-129+14351A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653015 | ||||||
| chr3:99653046
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+14382C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653046 | ||||||
| chr3:99653050
|
A | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0150 | 2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+14386A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653050 | ||||||
| chr3:99653237
|
C | T | 1 | a0001c0001t0028g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-129+14573C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653237 | ||||||
| chr3:99653249
|
A | G | 2 | a0001c0001t0008g0139a0001c0001t0035g0138 | 2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-129+14585A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653249 | ||||||
| chr3:99653539
|
C | G | 1 | a0001c0001t0002g0136 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-129+14875C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653539 | ||||||
| chr3:99653554
|
T | C | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-129+14890T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653554 | ||||||
| chr3:99653648
|
T | A | 2 | a0001c0001t0001g0180a0001c0001t0001g0181 | 2 | HG03654.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.-129+14984T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653648 | ||||||
| chr3:99653880
|
T | C | 5 | a0001c0001t0001g0006a0001c0001t0001g0234a0001c0001t0004g0208others(2): Show | 5 | HG01891.hp2 HG02723.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+15216T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653880 | ||||||
| chr3:99653952
|
G | A | 33 | a0001c0001t0001g0043a0001c0001t0001g0085a0001c0001t0001g0153others(30): Show | 33 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(30): Show |
intron_variant | MODIFIER | c.-129+15288G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653952 | ||||||
| chr3:99654012
|
C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+15348C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654012 | ||||||
| chr3:99654014
|
G | A | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+15350G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654014 | ||||||
| chr3:99654057
|
T | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+15393T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654057 | ||||||
| chr3:99654177
|
C | T | 24 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0234others(21): Show | 25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+15513C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654177 | ||||||
| chr3:99654255
|
G | A | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-129+15591G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654255 | ||||||
| chr3:99654548
|
G | A | 3 | a0001c0001t0001g0043a0001c0001t0004g0157a0001c0001t0026g0156 | 3 | HG02280.hp1 HG02615.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+15884G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654548 | ||||||
| chr3:99654712
|
C | T | 1 | a0001c0001t0023g0037 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-129+16048C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654712 | ||||||
| chr3:99654864
|
G | A | 2 | a0001c0001t0012g0141a0001c0001t0012g0142 | 2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+16200G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654864 | ||||||
| chr3:99654918
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-129+16254T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654918 | ||||||
| chr3:99655119
|
C | G | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+16455C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655119 | ||||||
| chr3:99655630
|
C | G | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-129+16966C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655630 | ||||||
| chr3:99655648
|
A | G | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+16984A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655648 | ||||||
| chr3:99655810
|
G | A | 5 | a0001c0001t0002g0167a0001c0001t0002g0168a0001c0001t0002g0169others(2): Show | 5 | HG00323.hp2 HG01361.hp2 HG02293.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+17146G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655810 | ||||||
| chr3:99656167
|
T | C | 1 | a0001c0001t0007g0166 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-129+17503T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656167 | ||||||
| chr3:99656225
|
T | G | 114 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(111): Show | 118 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(115): Show |
intron_variant | MODIFIER | c.-129+17561T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656225 | ||||||
| chr3:99656250
|
G | T | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-129+17586G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656250 | ||||||
| chr3:99656307
|
A | G | 59 | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0055others(56): Show | 60 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.-129+17643A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656307 | ||||||
| chr3:99656336
|
G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+17672G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656336 | ||||||
| chr3:99656497
|
A | G | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+17833A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656497 | ||||||
| chr3:99656499
|
A | G | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+17835A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656499 | ||||||
| chr3:99656733
|
C | T | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+18069C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656733 | ||||||
| chr3:99656905
|
A | G | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+18241A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656905 | ||||||
| chr3:99657116
|
T | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+18452T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657116 | ||||||
| chr3:99657165
|
T | G | 26 | a0001c0001t0001g0004a0001c0001t0001g0137a0001c0001t0001g0206others(23): Show | 27 | HG00544.hp1 HG00558.hp2 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.-129+18501T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657165 | ||||||
| chr3:99657326
|
T | C | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-129+18662T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657326 | ||||||
| chr3:99657618
|
A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+18954A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657618 | ||||||
| chr3:99657905
|
G | A | 39 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(36): Show | 41 | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(38): Show |
intron_variant | MODIFIER | c.-129+19241G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657905 | ||||||
| chr3:99658058
|
C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+19394C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658058 | ||||||
| chr3:99658115
|
AAAAAAAC others(7): Show |
A | 6 | a0001c0001t0014g0005a0001c0001t0014g0205a0001c0002t0010g0039others(3): Show | 6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+19458_-129+19 others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99658115 | |||||
| chr3:99658121
|
AC | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19458delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658121 | ||||||
| chr3:99658122
|
C | A | 103 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(100): Show | 107 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.-129+19458C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658122 | ||||||
| chr3:99658123
|
A | C | 24 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(21): Show | 24 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+19459A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658123 | ||||||
| chr3:99658124
|
A | C | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-129+19460A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658124 | ||||||
| chr3:99658128
|
A | C | 1 | a0001c0001t0008g0139 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+19464A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658128 | ||||||
| chr3:99658129
|
C | A | 1 | a0001c0001t0008g0139 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+19465C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658129 | ||||||
| chr3:99658133
|
A | C | 2 | a0001c0001t0001g0234a0001c0001t0005g0233 | 2 | HG02723.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+19469A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658133 | ||||||
| chr3:99658352
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19688G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658352 | ||||||
| chr3:99658352
|
G | C | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+19688G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658352 | ||||||
| chr3:99658376
|
C | T | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19712C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658376 | ||||||
| chr3:99658425
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+19761C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658425 | ||||||
| chr3:99658679
|
G | A | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+20015G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658679 | ||||||
| chr3:99659155
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20491T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659155 | ||||||
| chr3:99659188
|
C | T | 1 | a0001c0001t0023g0037 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-129+20524C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659188 | ||||||
| chr3:99659233
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20569G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659233 | ||||||
| chr3:99659278
|
G | A | 3 | a0001c0001t0002g0154a0001c0001t0003g0172a0001c0001t0003g0173 | 3 | HG00741.hp2 HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.-129+20614G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659278 | ||||||
| chr3:99659330
|
G | A | 1 | a0001c0001t0022g0182 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-129+20666G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659330 | ||||||
| chr3:99659353
|
T | G | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20689T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659353 | ||||||
| chr3:99659749
|
G | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-129+21085G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659749 | ||||||
| chr3:99659757
|
C | T | 6 | a0001c0001t0014g0005a0001c0001t0014g0205a0001c0002t0010g0039others(3): Show | 6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+21093C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659757 | ||||||
| chr3:99659788
|
T | C | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0013g0084 | 3 | HG02559.hp2 HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-129+21124T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659788 | ||||||
| chr3:99659892
|
C | T | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+21228C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659892 | ||||||
| chr3:99660078
|
T | C | 2 | a0001c0001t0002g0126a0001c0001t0004g0157 | 2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+21414T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660078 | ||||||
| chr3:99660131
|
G | A | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+21467G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660131 | ||||||
| chr3:99660180
|
G | A | 3 | a0001c0001t0002g0126a0001c0001t0003g0152a0001c0001t0004g0157 | 3 | HG02735.hp1 HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+21516G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660180 | ||||||
| chr3:99660208
|
A | G | 7 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+21544A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660208 | ||||||
| chr3:99660500
|
A | C | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+21836A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660500 | ||||||
| chr3:99660579
|
C | T | 6 | a0001c0001t0014g0005a0001c0001t0014g0205a0001c0002t0010g0039others(3): Show | 6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+21915C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660579 | ||||||
| chr3:99660753
|
C | T | 1 | a0001c0001t0018g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-129+22089C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660753 | ||||||
| chr3:99660821
|
G | A | 2 | a0001c0001t0012g0141a0001c0001t0012g0142 | 2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+22157G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660821 | ||||||
| chr3:99660844
|
G | T | 3 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0022g0182 | 3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+22180G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660844 | ||||||
| chr3:99661086
|
G | A | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-129+22422G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661086 | ||||||
| chr3:99661318
|
A | C | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+22654A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661318 | ||||||
| chr3:99661501
|
A | G | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+22837A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661501 | ||||||
| chr3:99661545
|
C | T | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+22881C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661545 | ||||||
| chr3:99661783
|
T | G | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23119T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661783 | ||||||
| chr3:99661813
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-129+23149C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661813 | ||||||
| chr3:99661856
|
C | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23192C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661856 | ||||||
| chr3:99662040
|
C | T | 1 | a0001c0001t0027g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-129+23376C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662040 | ||||||
| chr3:99662105
|
A | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23441A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662105 | ||||||
| chr3:99662115
|
G | A | 145 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(142): Show | 148 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(145): Show |
intron_variant | MODIFIER | c.-129+23451G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662115 | ||||||
| chr3:99662210
|
G | C | 50 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(47): Show | 50 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.-129+23546G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662210 | ||||||
| chr3:99662238
|
C | G | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+23574C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662238 | ||||||
| chr3:99662304
|
C | T | 6 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(3): Show | 6 | HG01975.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+23640C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662304 | ||||||
| chr3:99662379
|
C | T | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+23715C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662379 | ||||||
| chr3:99662381
|
C | CA | 134 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(131): Show | 138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.-129+23733dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99662381 | |||||
| chr3:99662381
|
C | CAAA | 24 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(21): Show | 24 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+23731_-129+23 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99662381 | |||||
| chr3:99662653
|
C | T | 1 | a0001c0001t0001g0246 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-129+23989C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662653 | ||||||
| chr3:99662948
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+24284G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662948 | ||||||
| chr3:99663077
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+24413T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663077 | ||||||
| chr3:99663250
|
C | T | 13 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(10): Show | 14 | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(11): Show |
intron_variant | MODIFIER | c.-129+24586C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663250 | ||||||
| chr3:99663353
|
G | A | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-129+24689G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663353 | ||||||
| chr3:99663538
|
C | T | 1 | a0001c0001t0011g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-129+24874C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663538 | ||||||
| chr3:99663571
|
A | G | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+24907A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663571 | ||||||
| chr3:99663581
|
A | G | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-129+24917A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663581 | ||||||
| chr3:99663692
|
A | G | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+25028A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663692 | ||||||
| chr3:99663798
|
TA | T | 25 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(22): Show | 25 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+25137delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99663798 | |||||
| chr3:99664186
|
C | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+25522C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664186 | ||||||
| chr3:99664402
|
A | G | 1 | a0001c0001t0001g0118 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-129+25738A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664402 | ||||||
| chr3:99664443
|
G | A | 4 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0013g0084others(1): Show | 4 | HG02559.hp2 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+25779G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664443 | ||||||
| chr3:99664482
|
TA | T | 69 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(66): Show | 71 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(68): Show |
intron_variant | MODIFIER | c.-129+25828delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99664482 | |||||
| chr3:99664488
|
A | T | 1 | a0001c0001t0003g0197 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+25824A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664488 | ||||||
| chr3:99664493
|
T | A | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+25829T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664493 | ||||||
| chr3:99664503
|
A | T | 97 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(94): Show | 100 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.-129+25839A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664503 | ||||||
| chr3:99664567
|
C | A | 15 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(12): Show | 15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+25903C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664567 | ||||||
| chr3:99664784
|
A | G | 31 | a0001c0001t0001g0031a0001c0001t0002g0126a0001c0001t0003g0149others(28): Show | 31 | HG00544.hp2 HG00597.hp1 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+26120A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664784 | ||||||
| chr3:99665105
|
C | T | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-129+26441C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665105 | ||||||
| chr3:99665193
|
G | C | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+26529G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665193 | ||||||
| chr3:99665411
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+26747G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665411 | ||||||
| chr3:99665649
|
C | A | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-129+26985C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665649 | ||||||
| chr3:99665663
|
T | G | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+26999T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665663 | ||||||
| chr3:99665673
|
C | CT | 17 | a0001c0001t0001g0056a0001c0001t0001g0065a0001c0001t0001g0085others(14): Show | 17 | HG00544.hp1 HG00597.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+27034dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | |||||
| chr3:99665673
|
CT | C | 76 | a0001c0001t0001g0008a0001c0001t0001g0031a0001c0001t0001g0033others(73): Show | 76 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.-129+27034delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | |||||
| chr3:99665673
|
CTT | C | 10 | a0001c0001t0001g0183a0001c0001t0001g0209a0001c0001t0003g0149others(7): Show | 10 | HG01081.hp1 HG02723.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.-129+27033_-129+27 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | |||||
| chr3:99665751
|
G | A | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+27087G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665751 | ||||||
| chr3:99665828
|
C | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+27164C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665828 | ||||||
| chr3:99665848
|
ATT | A | 24 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(21): Show | 24 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+27201_-129+27 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665848 | |||||
| chr3:99665999
|
T | C | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-129+27335T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665999 | ||||||
| chr3:99666102
|
T | C | 7 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+27438T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666102 | ||||||
| chr3:99666181
|
C | T | 4 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0030g0072others(1): Show | 4 | HG01978.hp2 HG02148.hp1 NA19001.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+27517C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666181 | ||||||
| chr3:99666221
|
G | A | 21 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0209others(18): Show | 22 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(19): Show |
intron_variant | MODIFIER | c.-129+27557G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666221 | ||||||
| chr3:99666358
|
C | CATT | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+27695_-129+27 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99666358 | |||||
| chr3:99666634
|
G | A | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+27970G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666634 | ||||||
| chr3:99666683
|
T | C | 1 | a0001c0001t0001g0098 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.-129+28019T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666683 | ||||||
| chr3:99666725
|
C | G | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+28061C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666725 | ||||||
| chr3:99666727
|
C | T | 2 | a0001c0001t0002g0126a0001c0001t0004g0157 | 2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+28063C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666727 | ||||||
| chr3:99666841
|
C | G | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+28177C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666841 | ||||||
| chr3:99666854
|
A | T | 9 | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0003g0088others(6): Show | 9 | HG00280.hp1 HG02683.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.-129+28190A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666854 | ||||||
| chr3:99666910
|
A | G | 2 | a0001c0001t0001g0112a0001c0001t0001g0113 | 2 | HG00558.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.-129+28246A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666910 | ||||||
| chr3:99666984
|
T | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+28320T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666984 | ||||||
| chr3:99666990
|
T | A | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-129+28326T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666990 | ||||||
| chr3:99667229
|
T | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+28565T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667229 | ||||||
| chr3:99667443
|
T | C | 15 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(12): Show | 15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+28779T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667443 | ||||||
| chr3:99667505
|
C | T | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-129+28841C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667505 | ||||||
| chr3:99667520
|
G | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+28856G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667520 | ||||||
| chr3:99667741
|
T | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+29077T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667741 | ||||||
| chr3:99667863
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+29199C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667863 | ||||||
| chr3:99668161
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-129+29497A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668161 | ||||||
| chr3:99668699
|
T | A | 1 | a0001c0002t0031g0199 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-129+30035T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668699 | ||||||
| chr3:99668753
|
T | A | 15 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(12): Show | 15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+30089T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668753 | ||||||
| chr3:99668882
|
A | T | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+30218A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668882 | ||||||
| chr3:99668960
|
A | G | 1 | a0001c0001t0003g0197 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+30296A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668960 | ||||||
| chr3:99669059
|
A | G | 48 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(45): Show | 48 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.-129+30395A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669059 | ||||||
| chr3:99669123
|
T | TTA | 18 | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0111others(15): Show | 18 | HG00544.hp1 HG00558.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-129+30482_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
T | TTATATA | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+30478_-129+30 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
T | TTATATAT others(17): Show |
3 | a0001c0001t0003g0192a0001c0001t0003g0196a0001c0001t0034g0193 | 3 | HG00597.hp1 HG02523.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.-129+30460_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
T | TTATATAT others(19): Show |
2 | a0001c0001t0003g0194a0001c0001t0003g0195 | 2 | NA18969.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
TTA | T | 5 | a0001c0001t0001g0031a0001c0001t0004g0070a0001c0001t0004g0071others(2): Show | 5 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+30482_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
TTATA | T | 5 | a0001c0001t0003g0212a0001c0001t0011g0257a0001c0001t0017g0258others(2): Show | 5 | HG02257.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+30480_-129+30 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669123
|
TTATATA | T | 13 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0066others(10): Show | 13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+30478_-129+30 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | |||||
| chr3:99669140
|
T | G | 2 | a0001c0001t0001g0006a0001c0001t0006g0226 | 2 | HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-129+30476T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669140 | ||||||
| chr3:99669142
|
T | G | 14 | a0001c0001t0001g0006a0001c0001t0002g0232a0001c0001t0004g0253others(11): Show | 14 | HG00639.hp1 HG02055.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.-129+30478T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669142 | ||||||
| chr3:99669144
|
T | G | 35 | a0001c0001t0001g0006a0001c0001t0001g0120a0001c0001t0001g0183others(32): Show | 35 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.-129+30480T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669144 | ||||||
| chr3:99669146
|
T | C | 3 | a0001c0001t0011g0257a0001c0001t0017g0258a0001c0001t0035g0138 | 3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+30482T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669146 | ||||||
| chr3:99669146
|
T | G | 37 | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0120others(34): Show | 37 | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.-129+30482T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669146 | ||||||
| chr3:99669146
|
T | TATATATA others(17): Show |
1 | a0001c0001t0003g0186 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(19): Show |
1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(21): Show |
1 | a0001c0001t0025g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(25): Show |
1 | a0001c0001t0002g0126 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(19): Show |
1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(13): Show |
1 | a0001c0001t0003g0190 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(15): Show |
1 | a0001c0001t0003g0189 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(17): Show |
1 | a0001c0001t0003g0188 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(19): Show |
1 | a0001c0001t0003g0185 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(21): Show |
1 | a0001c0001t0003g0187 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(15): Show |
1 | a0001c0001t0003g0198 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(21): Show |
1 | a0001c0001t0003g0191 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(23): Show |
1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(19): Show |
1 | a0001c0001t0003g0197 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(23): Show |
1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(25): Show |
2 | a0001c0001t0007g0045a0001c0001t0007g0255 | 2 | HG02922.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-129+30483_-129+30 others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(29): Show |
1 | a0001c0001t0003g0150 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(42): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
T | TATATATA others(31): Show |
1 | a0001c0001t0013g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(44): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669146
|
TAGAGGGA others(5): Show |
T | 2 | a0001c0001t0037g0231a0001c0004t0004g0254 | 2 | HG01891.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-129+30487_-129+30 others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | |||||
| chr3:99669148
|
G | T | 10 | a0001c0001t0001g0054a0001c0001t0001g0077a0001c0001t0001g0122others(7): Show | 10 | HG01074.hp2 HG01168.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.-129+30484G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669148 | ||||||
| chr3:99669149
|
AGG | A | 11 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0077others(8): Show | 11 | HG00735.hp2 HG01168.hp2 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.-129+30487_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669149 | |||||
| chr3:99669151
|
G | A | 56 | a0001c0001t0001g0031a0001c0001t0001g0120a0001c0001t0001g0122others(53): Show | 56 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.-129+30487G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669151 | ||||||
| chr3:99669151
|
G | GGA | 7 | a0001c0001t0001g0033a0001c0001t0001g0161a0001c0001t0002g0168others(4): Show | 7 | HG00323.hp2 HG01934.hp1 HG01934.hp2 others(4): Show |
intron_variant | MODIFIER | c.-129+30517_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669151 | |||||
| chr3:99669151
|
GGA | G | 80 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(77): Show | 83 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.-129+30517_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669151 | |||||
| chr3:99669152
|
G | T | 6 | a0001c0001t0001g0054a0001c0001t0001g0077a0001c0001t0004g0012others(3): Show | 6 | HG01168.hp2 HG02129.hp1 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+30488G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669152 | ||||||
| chr3:99669153
|
A | G | 2 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+30489A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669153 | ||||||
| chr3:99669154
|
G | T | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-129+30490G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669154 | ||||||
| chr3:99669155
|
A | G | 5 | a0001c0001t0003g0212a0001c0001t0011g0257a0001c0001t0017g0258others(2): Show | 5 | HG02257.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+30491A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669155 | ||||||
| chr3:99669157
|
A | G | 13 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0066others(10): Show | 13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+30493A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669157 | ||||||
| chr3:99669160
|
G | T | 2 | a0001c0001t0037g0231a0001c0004t0004g0254 | 2 | HG01891.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-129+30496G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669160 | ||||||
| chr3:99669236
|
C | G | 1 | a0001c0001t0024g0123 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-129+30572C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669236 | ||||||
| chr3:99669415
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+30751T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669415 | ||||||
| chr3:99669457
|
A | G | 1 | a0001c0001t0024g0123 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-129+30793A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669457 | ||||||
| chr3:99669671
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+31007T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669671 | ||||||
| chr3:99669736
|
A | G | 2 | a0001c0001t0001g0077a0001c0001t0004g0076 | 2 | NA18942.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-129+31072A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669736 | ||||||
| chr3:99669825
|
C | T | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+31161C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669825 | ||||||
| chr3:99669899
|
G | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+31235G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669899 | ||||||
| chr3:99669976
|
A | C | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+31312A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669976 | ||||||
| chr3:99670033
|
A | G | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-129+31369A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670033 | ||||||
| chr3:99670490
|
G | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+31826G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670490 | ||||||
| chr3:99670515
|
T | G | 1 | a0001c0001t0007g0166 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-129+31851T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670515 | ||||||
| chr3:99670636
|
C | T | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-129+31972C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670636 | ||||||
| chr3:99670684
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+32020G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670684 | ||||||
| chr3:99670713
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-129+32049C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670713 | ||||||
| chr3:99670838
|
A | G | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+32174A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670838 | ||||||
| chr3:99670945
|
GGT | G | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+32300_-129+32 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99670945 | |||||
| chr3:99670997
|
G | A | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+32333G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670997 | ||||||
| chr3:99671146
|
CA | C | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+32485delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99671146 | |||||
| chr3:99671204
|
T | A | 145 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(142): Show | 148 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(145): Show |
intron_variant | MODIFIER | c.-129+32540T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671204 | ||||||
| chr3:99671337
|
G | A | 150 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(147): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.-129+32673G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671337 | ||||||
| chr3:99671373
|
A | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+32709A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671373 | ||||||
| chr3:99671530
|
T | C | 3 | a0001c0001t0011g0257a0001c0001t0017g0258a0001c0001t0035g0138 | 3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+32866T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671530 | ||||||
| chr3:99671594
|
C | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+32930C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671594 | ||||||
| chr3:99671699
|
A | G | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+33035A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671699 | ||||||
| chr3:99671787
|
C | A | 2 | a0001c0001t0003g0185a0001c0001t0003g0200 | 2 | NA19054.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-129+33123C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671787 | ||||||
| chr3:99672368
|
A | C | 1 | a0001c0001t0001g0236 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-129+33704A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672368 | ||||||
| chr3:99672484
|
T | C | 5 | a0001c0001t0003g0149a0001c0001t0003g0150a0001c0001t0007g0045others(2): Show | 5 | HG02896.hp1 HG02922.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+33820T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672484 | ||||||
| chr3:99672497
|
A | C | 7 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+33833A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672497 | ||||||
| chr3:99672518
|
T | C | 3 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0022g0182 | 3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+33854T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672518 | ||||||
| chr3:99672581
|
C | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+33917C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672581 | ||||||
| chr3:99672638
|
T | A | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+33974T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672638 | ||||||
| chr3:99672787
|
G | C | 2 | a0001c0001t0012g0141a0001c0001t0012g0142 | 2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+34123G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672787 | ||||||
| chr3:99673089
|
G | T | 150 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(147): Show | 153 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.-129+34425G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673089 | ||||||
| chr3:99673175
|
AT | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+34520delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99673175 | |||||
| chr3:99673218
|
C | A | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+34554C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673218 | ||||||
| chr3:99673340
|
A | G | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-129+34676A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673340 | ||||||
| chr3:99673552
|
T | C | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+34888T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673552 | ||||||
| chr3:99673664
|
T | C | 3 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0022g0182 | 3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+35000T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673664 | ||||||
| chr3:99674170
|
A | G | 1 | a0001c0001t0007g0255 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-129+35506A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674170 | ||||||
| chr3:99674246
|
A | G | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+35582A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674246 | ||||||
| chr3:99674416
|
T | C | 1 | a0001c0001t0013g0128 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-129+35752T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674416 | ||||||
| chr3:99674444
|
T | A | 3 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0006g0129 | 3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-129+35780T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674444 | ||||||
| chr3:99674444
|
T | TA | 6 | a0001c0001t0003g0189a0001c0001t0034g0193a0001c0002t0010g0039others(3): Show | 6 | HG02109.hp1 HG02523.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+35792dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99674444 | |||||
| chr3:99674444
|
T | TAA | 23 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(20): Show | 23 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+35791_-129+35 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99674444 | |||||
| chr3:99674445
|
A | T | 3 | a0001c0001t0001g0033a0001c0001t0001g0183a0001c0001t0001g0206 | 3 | HG01081.hp1 HG02559.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+35781A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674445 | ||||||
| chr3:99674512
|
A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+35848A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674512 | ||||||
| chr3:99674588
|
G | A | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-129+35924G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674588 | ||||||
| chr3:99674673
|
G | T | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-129+36009G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674673 | ||||||
| chr3:99674707
|
C | T | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+36043C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674707 | ||||||
| chr3:99674814
|
A | G | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-129+36150A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674814 | ||||||
| chr3:99675185
|
G | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0237others(9): Show | 13 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+36521G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675185 | ||||||
| chr3:99675248
|
C | T | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+36584C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675248 | ||||||
| chr3:99675310
|
A | G | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-129+36646A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675310 | ||||||
| chr3:99675611
|
T | G | 1 | a0001c0001t0006g0229 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-129+36947T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675611 | ||||||
| chr3:99675623
|
C | T | 4 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0013g0084others(1): Show | 4 | HG02559.hp2 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+36959C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675623 | ||||||
| chr3:99675717
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+37053G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675717 | ||||||
| chr3:99675734
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+37070A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675734 | ||||||
| chr3:99675769
|
C | A | 2 | a0001c0001t0003g0172a0001c0001t0003g0173 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.-129+37105C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675769 | ||||||
| chr3:99675815
|
C | T | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+37151C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675815 | ||||||
| chr3:99675848
|
T | C | 13 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0066others(10): Show | 13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+37184T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675848 | ||||||
| chr3:99675963
|
T | C | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+37299T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675963 | ||||||
| chr3:99676197
|
T | C | 1 | a0001c0002t0031g0199 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-129+37533T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676197 | ||||||
| chr3:99676228
|
G | T | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+37564G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676228 | ||||||
| chr3:99676259
|
T | C | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+37595T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676259 | ||||||
| chr3:99676429
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-129+37765G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676429 | ||||||
| chr3:99676538
|
A | T | 1 | a0001c0001t0017g0050 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-129+37874A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676538 | ||||||
| chr3:99676700
|
A | T | 15 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(12): Show | 15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+38036A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676700 | ||||||
| chr3:99676987
|
G | A | 1 | a0001c0001t0014g0047 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-129+38323G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676987 | ||||||
| chr3:99677012
|
G | GT | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+38351dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677012 | |||||
| chr3:99677057
|
A | G | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-129+38393A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677057 | ||||||
| chr3:99677060
|
G | GAT | 21 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0077others(18): Show | 21 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.-129+38397_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677060 | |||||
| chr3:99677062
|
A | T | 2 | a0001c0001t0001g0054a0001c0001t0001g0124 | 2 | NA18971.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-129+38398A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677062 | ||||||
| chr3:99677064
|
A | G | 21 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0077others(18): Show | 21 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.-129+38400A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677064 | ||||||
| chr3:99677064
|
AAG | A | 4 | a0001c0001t0001g0054a0001c0001t0001g0124a0001c0001t0011g0257others(1): Show | 4 | HG02723.hp2 HG03540.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+38419_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677064 | |||||
| chr3:99677064
|
AAGAG | A | 26 | a0001c0001t0001g0110a0001c0001t0002g0126a0001c0001t0003g0149others(23): Show | 26 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+38417_-129+38 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677064 | |||||
| chr3:99677145
|
C | CAT | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+38493_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677145 | |||||
| chr3:99677300
|
T | C | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-129+38636T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677300 | ||||||
| chr3:99677309
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38645G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677309 | ||||||
| chr3:99677428
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38764T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677428 | ||||||
| chr3:99677464
|
T | A | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-129+38800T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677464 | ||||||
| chr3:99677480
|
G | A | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38816G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677480 | ||||||
| chr3:99677747
|
C | G | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+39083C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677747 | ||||||
| chr3:99677789
|
T | C | 4 | a0001c0001t0001g0237a0001c0001t0002g0136a0001c0001t0002g0238others(1): Show | 4 | HG02129.hp2 NA18953.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+39125T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677789 | ||||||
| chr3:99677896
|
C | T | 3 | a0001c0001t0005g0090a0001c0001t0005g0091a0001c0001t0005g0092 | 3 | HG00741.hp1 HG02738.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.-129+39232C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677896 | ||||||
| chr3:99677927
|
T | C | 2 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+39263T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677927 | ||||||
| chr3:99678297
|
T | C | 48 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(45): Show | 48 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.-129+39633T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678297 | ||||||
| chr3:99678365
|
T | C | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+39701T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678365 | ||||||
| chr3:99678410
|
T | C | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+39746T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678410 | ||||||
| chr3:99678582
|
T | TTTGTTGT others(9): Show |
1 | a0001c0001t0001g0120 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-129+39926_-129+39 others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678582 | |||||
| chr3:99678582
|
T | TTTGTTGT others(12): Show |
47 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(44): Show | 47 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.-129+39923_-129+39 others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678582 | |||||
| chr3:99678585
|
G | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+39921G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678585 | ||||||
| chr3:99678702
|
ATTG | A | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+40045_-129+40 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678702 | |||||
| chr3:99678917
|
C | G | 2 | a0001c0001t0001g0110a0001c0007t0001g0082 | 2 | NA18943.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.-129+40253C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678917 | ||||||
| chr3:99679007
|
T | G | 7 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+40343T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679007 | ||||||
| chr3:99679039
|
C | G | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+40375C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679039 | ||||||
| chr3:99679312
|
A | G | 23 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(20): Show | 23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+40648A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679312 | ||||||
| chr3:99679511
|
C | G | 2 | a0001c0001t0013g0128a0001c0001t0033g0015 | 2 | HG04184.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-129+40847C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679511 | ||||||
| chr3:99679562
|
C | A | 1 | a0001c0001t0001g0174 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-129+40898C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679562 | ||||||
| chr3:99679580
|
A | G | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+40916A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679580 | ||||||
| chr3:99679616
|
G | A | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-129+40952G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679616 | ||||||
| chr3:99679618
|
G | A | 2 | a0001c0001t0002g0134a0001c0001t0002g0148 | 2 | HG02698.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.-129+40954G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679618 | ||||||
| chr3:99679676
|
A | G | 1 | a0001c0001t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-129+41012A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679676 | ||||||
| chr3:99679780
|
G | A | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+41116G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679780 | ||||||
| chr3:99679887
|
A | T | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+41223A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679887 | ||||||
| chr3:99680079
|
T | C | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+41415T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680079 | ||||||
| chr3:99680165
|
G | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41501G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680165 | ||||||
| chr3:99680222
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41558A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680222 | ||||||
| chr3:99680445
|
G | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+41781G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680445 | ||||||
| chr3:99680565
|
C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41901C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680565 | ||||||
| chr3:99680625
|
A | G | 171 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(168): Show | 174 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.-129+41961A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680625 | ||||||
| chr3:99680648
|
C | A | 2 | a0001c0001t0001g0004a0001c0001t0009g0022 | 3 | NA19063.hp1 NA19075.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.-129+41984C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680648 | ||||||
| chr3:99680649
|
C | G | 2 | a0001c0001t0001g0004a0001c0001t0009g0022 | 3 | NA19063.hp1 NA19075.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.-129+41985C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680649 | ||||||
| chr3:99680706
|
T | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+42042T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680706 | ||||||
| chr3:99680748
|
G | C | 4 | a0001c0001t0002g0227a0001c0001t0006g0221a0001c0001t0006g0228others(1): Show | 4 | HG01943.hp1 HG01978.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+42084G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680748 | ||||||
| chr3:99680813
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42149A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680813 | ||||||
| chr3:99680831
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42167A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680831 | ||||||
| chr3:99680837
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42173C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680837 | ||||||
| chr3:99680847
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42183C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680847 | ||||||
| chr3:99680857
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42193C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680857 | ||||||
| chr3:99680868
|
T | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42204T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680868 | ||||||
| chr3:99680872
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42208G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680872 | ||||||
| chr3:99680884
|
G | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42220G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680884 | ||||||
| chr3:99680886
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42222A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680886 | ||||||
| chr3:99680896
|
T | C | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42232T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680896 | ||||||
| chr3:99680912
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42248A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680912 | ||||||
| chr3:99680917
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42253A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680917 | ||||||
| chr3:99680919
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42255A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680919 | ||||||
| chr3:99680983
|
T | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-129+42319T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680983 | ||||||
| chr3:99681150
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+42486A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681150 | ||||||
| chr3:99681158
|
G | C | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-129+42494G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681158 | ||||||
| chr3:99681305
|
A | G | 1 | a0001c0001t0008g0256 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-129+42641A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681305 | ||||||
| chr3:99681632
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-129+42968G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681632 | ||||||
| chr3:99681697
|
G | T | 15 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0235others(12): Show | 16 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(13): Show |
intron_variant | MODIFIER | c.-129+43033G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681697 | ||||||
| chr3:99681698
|
G | A | 2 | a0001c0001t0001g0058a0001c0001t0001g0068 | 2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-129+43034G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681698 | ||||||
| chr3:99681995
|
G | T | 16 | a0001c0001t0003g0185a0001c0001t0003g0186a0001c0001t0003g0187others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-129+43331G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681995 | ||||||
| chr3:99682001
|
C | T | 5 | a0001c0001t0001g0223a0001c0001t0007g0025a0001c0001t0007g0155others(2): Show | 5 | HG01952.hp2 HG02055.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+43337C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682001 | ||||||
| chr3:99682122
|
C | T | 31 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(28): Show | 31 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+43458C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682122 | ||||||
| chr3:99682143
|
G | A | 1 | a0001c0001t0002g0250 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-129+43479G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682143 | ||||||
| chr3:99682348
|
G | A | 31 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(28): Show | 31 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+43684G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682348 | ||||||
| chr3:99682434
|
A | G | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+43770A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682434 | ||||||
| chr3:99682605
|
A | T | 2 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | HG01346.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-129+43941A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682605 | ||||||
| chr3:99682615
|
TA | T | 61 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(58): Show | 62 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.-129+43965delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99682615 | |||||
| chr3:99682641
|
A | C | 1 | a0001c0001t0005g0125 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-129+43977A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682641 | ||||||
| chr3:99682686
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+44022C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682686 | ||||||
| chr3:99682745
|
CCTAT | C | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+44082_-129+44 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682745 | ||||||
| chr3:99682794
|
A | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(41): Show | 46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+44130A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682794 | ||||||
| chr3:99682865
|
TG | T | 151 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(148): Show | 154 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.-129+44203delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99682865 | |||||
| chr3:99683084
|
A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+44420A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683084 | ||||||
| chr3:99683122
|
G | A | 6 | a0001c0001t0014g0005a0001c0001t0014g0205a0001c0002t0010g0039others(3): Show | 6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+44458G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683122 | ||||||
| chr3:99683160
|
T | C | 151 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(148): Show | 154 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.-129+44496T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683160 | ||||||
| chr3:99683406
|
T | A | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-129+44742T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683406 | ||||||
| chr3:99683499
|
T | C | 1 | a0001c0001t0002g0162 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-129+44835T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683499 | ||||||
| chr3:99683909
|
T | C | 2 | a0001c0001t0001g0099a0001c0001t0001g0100 | 2 | NA18964.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-129+45245T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683909 | ||||||
| chr3:99683925
|
T | C | 2 | a0001c0001t0002g0126a0001c0001t0004g0157 | 2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+45261T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683925 | ||||||
| chr3:99683983
|
G | A | 1 | a0001c0001t0014g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-129+45319G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683983 | ||||||
| chr3:99684032
|
A | G | 2 | a0001c0001t0001g0002a0001c0001t0001g0153 | 3 | HG01192.hp2 HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+45368A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684032 | ||||||
| chr3:99684274
|
C | G | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+45610C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684274 | ||||||
| chr3:99684614
|
G | A | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+45950G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684614 | ||||||
| chr3:99684737
|
C | T | 3 | a0001c0001t0001g0175a0001c0001t0006g0026a0001c0001t0008g0256 | 3 | HG01934.hp1 HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-129+46073C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684737 | ||||||
| chr3:99684886
|
G | T | 22 | a0001c0001t0001g0147a0001c0001t0001g0161a0001c0001t0001g0165others(19): Show | 22 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(19): Show |
intron_variant | MODIFIER | c.-129+46222G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684886 | ||||||
| chr3:99684961
|
C | G | 22 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0209others(19): Show | 23 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+46297C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684961 | ||||||
| chr3:99684971
|
A | G | 1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-129+46307A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684971 | ||||||
| chr3:99685029
|
T | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+46365T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685029 | ||||||
| chr3:99685033
|
G | A | 68 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(65): Show | 70 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.-129+46369G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685033 | ||||||
| chr3:99685057
|
T | C | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+46393T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685057 | ||||||
| chr3:99685181
|
A | G | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+46517A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685181 | ||||||
| chr3:99685276
|
A | G | 2 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+46612A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685276 | ||||||
| chr3:99685295
|
C | T | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+46631C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685295 | ||||||
| chr3:99685416
|
T | A | 6 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(3): Show | 6 | HG00639.hp1 HG02257.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+46752T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685416 | ||||||
| chr3:99685469
|
G | A | 24 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+46805G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685469 | ||||||
| chr3:99685507
|
C | T | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+46843C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685507 | ||||||
| chr3:99685561
|
T | C | 3 | a0001c0001t0011g0257a0001c0001t0017g0258a0001c0001t0035g0138 | 3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+46897T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685561 | ||||||
| chr3:99686014
|
A | C | 24 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+47350A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686014 | ||||||
| chr3:99686017
|
G | A | 3 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+47353G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686017 | ||||||
| chr3:99686145
|
C | T | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+47481C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686145 | ||||||
| chr3:99686176
|
AAAT | A | 24 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+47520_-129+47 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99686176 | |||||
| chr3:99686367
|
A | G | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-129+47703A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686367 | ||||||
| chr3:99686456
|
GT | G | 3 | a0001c0001t0009g0013a0001c0001t0009g0022a0001c0001t0009g0083 | 3 | HG01952.hp1 NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.-129+47793delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686456 | ||||||
| chr3:99686621
|
T | A | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+47957T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686621 | ||||||
| chr3:99686649
|
A | C | 1 | a0001c0001t0001g0108 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-129+47985A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686649 | ||||||
| chr3:99686745
|
G | A | 1 | a0001c0001t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-129+48081G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686745 | ||||||
| chr3:99686997
|
T | C | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+48333T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686997 | ||||||
| chr3:99687132
|
C | T | 2 | a0001c0001t0005g0091a0001c0001t0005g0092 | 2 | HG00741.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.-129+48468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687132 | ||||||
| chr3:99687427
|
C | CGT | 4 | a0001c0001t0001g0116a0001c0001t0008g0139a0001c0001t0008g0151others(1): Show | 4 | HG02559.hp2 HG02895.hp2 NA19085.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+48776_-129+48 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99687427 | |||||
| chr3:99687577
|
T | C | 15 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0003g0212others(12): Show | 15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+48913T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687577 | ||||||
| chr3:99687636
|
G | A | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+48972G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687636 | ||||||
| chr3:99687766
|
T | G | 2 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+49102T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687766 | ||||||
| chr3:99687932
|
A | G | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-129+49268A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687932 | ||||||
| chr3:99688009
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+49345A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688009 | ||||||
| chr3:99688048
|
T | C | 24 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+49384T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688048 | ||||||
| chr3:99688134
|
T | C | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+49470T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688134 | ||||||
| chr3:99688224
|
T | A | 21 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0209others(18): Show | 22 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(19): Show |
intron_variant | MODIFIER | c.-129+49560T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688224 | ||||||
| chr3:99688308
|
AG | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+49647delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99688308 | |||||
| chr3:99688411
|
C | T | 1 | a0001c0001t0002g0162 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-129+49747C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688411 | ||||||
| chr3:99688475
|
T | C | 1 | a0001c0001t0001g0048 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-129+49811T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688475 | ||||||
| chr3:99688485
|
C | A | 1 | a0001c0001t0008g0139 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+49821C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688485 | ||||||
| chr3:99688662
|
C | T | 3 | a0001c0001t0001g0116a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02896.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-129+49998C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688662 | ||||||
| chr3:99688748
|
G | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+50084G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688748 | ||||||
| chr3:99688771
|
G | A | 26 | a0001c0001t0001g0030a0001c0001t0002g0126a0001c0001t0003g0149others(23): Show | 26 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+50107G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688771 | ||||||
| chr3:99688816
|
G | A | 25 | a0001c0001t0002g0126a0001c0001t0003g0149a0001c0001t0003g0150others(22): Show | 25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+50152G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688816 | ||||||
| chr3:99688885
|
C | T | 2 | a0001c0001t0011g0257a0001c0001t0017g0258 | 2 | HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+50221C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688885 | ||||||
| chr3:99689193
|
G | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+50529G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689193 | ||||||
| chr3:99689468
|
A | T | 2 | a0001c0001t0023g0037a0001c0001t0026g0156 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-129+50804A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689468 | ||||||
| chr3:99689496
|
C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+50832C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689496 | ||||||
| chr3:99689609
|
T | G | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0021g0086 | 3 | HG02559.hp2 HG02895.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-129+50945T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689609 | ||||||
| chr3:99689693
|
T | G | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-129+51029T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689693 | ||||||
| chr3:99689747
|
GAAAA | G | 17 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0077others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51085_-129+51 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99689747 | |||||
| chr3:99689753
|
C | T | 17 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0077others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51089C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689753 | ||||||
| chr3:99689754
|
A | G | 17 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0077others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51090A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689754 | ||||||
| chr3:99689845
|
C | T | 4 | a0001c0001t0001g0006a0001c0001t0023g0037a0001c0001t0026g0156others(1): Show | 4 | HG02280.hp1 HG03486.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+51181C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689845 | ||||||
| chr3:99689846
|
G | A | 2 | a0001c0001t0004g0253a0001c0001t0006g0226 | 2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+51182G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689846 | ||||||
| chr3:99689899
|
C | T | 5 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(2): Show | 5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+51235C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689899 | ||||||
| chr3:99690061
|
G | A | 1 | a0001c0001t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-129+51397G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690061 | ||||||
| chr3:99690151
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+51487C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690151 | ||||||
| chr3:99690381
|
T | C | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+51717T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690381 | ||||||
| chr3:99690656
|
C | T | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+51992C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690656 | ||||||
| chr3:99690796
|
A | G | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-129+52132A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690796 | ||||||
| chr3:99690913
|
C | T | 49 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(46): Show | 49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+52249C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690913 | ||||||
| chr3:99690921
|
C | T | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(166): Show | 172 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.-129+52257C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690921 | ||||||
| chr3:99690994
|
A | T | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-129+52330A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690994 | ||||||
| chr3:99691041
|
C | A | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-129+52377C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691041 | ||||||
| chr3:99691170
|
T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+52506T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691170 | ||||||
| chr3:99691209
|
C | A | 1 | a0001c0001t0002g0251 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-129+52545C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691209 | ||||||
| chr3:99691318
|
A | G | 47 | a0001c0001t0001g0097a0001c0001t0001g0237a0001c0001t0002g0126others(44): Show | 47 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.-129+52654A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691318 | ||||||
| chr3:99691420
|
T | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+52756T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691420 | ||||||
| chr3:99691449
|
G | A | 46 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(43): Show | 46 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+52785G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691449 | ||||||
| chr3:99691472
|
C | T | 1 | a0001c0001t0002g0239 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-129+52808C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691472 | ||||||
| chr3:99691509
|
T | C | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0021g0086 | 3 | HG02559.hp2 HG02895.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-129+52845T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691509 | ||||||
| chr3:99691702
|
T | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0230 | 3 | HG02523.hp1 HG03471.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.-129+53038T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691702 | ||||||
| chr3:99691702
|
TA | T | 57 | a0001c0001t0001g0031a0001c0001t0001g0120a0001c0001t0001g0165others(54): Show | 57 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.-129+53056delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99691702 | |||||
| chr3:99691702
|
TAA | T | 5 | a0001c0001t0001g0237a0001c0001t0003g0189a0001c0001t0003g0203others(2): Show | 5 | HG02922.hp2 NA18953.hp2 NA19063.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+53055_-129+53 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99691702 | |||||
| chr3:99691703
|
A | T | 100 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(97): Show | 103 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(100): Show |
intron_variant | MODIFIER | c.-129+53039A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691703 | ||||||
| chr3:99691704
|
A | T | 81 | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0054others(78): Show | 82 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.-129+53040A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691704 | ||||||
| chr3:99691705
|
A | T | 65 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(62): Show | 65 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.-129+53041A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691705 | ||||||
| chr3:99691706
|
A | T | 11 | a0001c0001t0001g0031a0001c0001t0001g0120a0001c0001t0003g0152others(8): Show | 11 | HG00735.hp1 HG01074.hp2 HG01168.hp2 others(8): Show |
intron_variant | MODIFIER | c.-129+53042A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691706 | ||||||
| chr3:99691718
|
A | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0206a0001c0001t0001g0252others(9): Show | 13 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+53054A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691718 | ||||||
| chr3:99691817
|
C | T | 68 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(65): Show | 70 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.-128-53080C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691817 | ||||||
| chr3:99691969
|
C | T | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-52928C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691969 | ||||||
| chr3:99692075
|
C | T | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-52822C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692075 | ||||||
| chr3:99692146
|
A | C | 1 | a0001c0001t0002g0239 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-128-52751A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692146 | ||||||
| chr3:99692198
|
A | C | 1 | a0001c0001t0011g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-128-52699A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692198 | ||||||
| chr3:99692320
|
G | A | 56 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(53): Show | 56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-52577G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692320 | ||||||
| chr3:99692343
|
G | A | 13 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0066others(10): Show | 13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-52554G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692343 | ||||||
| chr3:99692427
|
A | T | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-128-52470A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692427 | ||||||
| chr3:99692446
|
C | T | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-52451C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692446 | ||||||
| chr3:99692632
|
T | C | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-128-52265T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692632 | ||||||
| chr3:99693058
|
C | T | 1 | a0001c0001t0014g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-128-51839C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693058 | ||||||
| chr3:99693312
|
T | A | 56 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(53): Show | 56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-51585T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693312 | ||||||
| chr3:99693339
|
A | T | 56 | a0001c0001t0001g0111a0001c0001t0001g0147a0001c0001t0001g0237others(53): Show | 56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-51558A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693339 | ||||||
| chr3:99693701
|
A | G | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-51196A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693701 | ||||||
| chr3:99693796
|
T | C | 2 | a0001c0001t0013g0084a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-51101T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693796 | ||||||
| chr3:99693810
|
G | T | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-128-51087G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693810 | ||||||
| chr3:99693942
|
G | A | 132 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(129): Show | 135 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(132): Show |
intron_variant | MODIFIER | c.-128-50955G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693942 | ||||||
| chr3:99693955
|
T | G | 1 | a0001c0001t0004g0074 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-128-50942T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693955 | ||||||
| chr3:99694110
|
T | C | 24 | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-128-50787T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694110 | ||||||
| chr3:99694182
|
C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-50715C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694182 | ||||||
| chr3:99694281
|
G | A | 7 | a0001c0001t0001g0209a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-128-50616G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694281 | ||||||
| chr3:99694774
|
C | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-128-50123C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694774 | ||||||
| chr3:99695319
|
G | C | 3 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0032g0017 | 3 | NA18959.hp1 NA18981.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-128-49578G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695319 | ||||||
| chr3:99695354
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(42): Show | 47 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.-128-49543G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695354 | ||||||
| chr3:99695583
|
A | ACT | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-49298_-128-49 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99695583 | |||||
| chr3:99695635
|
G | A | 52 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(49): Show | 52 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.-128-49262G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695635 | ||||||
| chr3:99695686
|
C | A | 56 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(53): Show | 56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-49211C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695686 | ||||||
| chr3:99695756
|
G | A | 2 | a0001c0001t0002g0135a0001c0001t0019g0179 | 2 | HG01934.hp2 HG01975.hp1 |
intron_variant | MODIFIER | c.-128-49141G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695756 | ||||||
| chr3:99696044
|
G | A | 52 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(49): Show | 52 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.-128-48853G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696044 | ||||||
| chr3:99696103
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-128-48794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696103 | ||||||
| chr3:99696244
|
A | G | 2 | a0001c0001t0001g0054a0001c0001t0001g0124 | 2 | NA18971.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-128-48653A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696244 | ||||||
| chr3:99696352
|
G | C | 1 | a0001c0001t0003g0198 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-128-48545G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696352 | ||||||
| chr3:99696404
|
G | A | 3 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0068 | 3 | HG01168.hp1 HG01169.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.-128-48493G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696404 | ||||||
| chr3:99696474
|
C | T | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-48423C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696474 | ||||||
| chr3:99696514
|
C | A | 71 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(68): Show | 73 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.-128-48383C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696514 | ||||||
| chr3:99696686
|
A | C | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-48211A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696686 | ||||||
| chr3:99696700
|
C | T | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-48197C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696700 | ||||||
| chr3:99696709
|
T | C | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-48188T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696709 | ||||||
| chr3:99696806
|
T | C | 1 | a0001c0001t0003g0185 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-128-48091T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696806 | ||||||
| chr3:99696890
|
C | G | 58 | a0001c0001t0001g0006a0001c0001t0001g0237a0001c0001t0002g0126others(55): Show | 58 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.-128-48007C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696890 | ||||||
| chr3:99696976
|
A | AT | 21 | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0055others(18): Show | 21 | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.-128-47893dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696976
|
A | ATT | 12 | a0001c0001t0001g0077a0001c0001t0001g0120a0001c0001t0004g0012others(9): Show | 12 | HG01168.hp2 HG02080.hp2 HG02129.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-47894_-128-47 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696976
|
AT | A | 22 | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0112others(19): Show | 22 | HG01071.hp2 HG01109.hp2 HG02027.hp2 others(19): Show |
intron_variant | MODIFIER | c.-128-47893delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696976
|
ATT | A | 60 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(57): Show | 63 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(60): Show |
intron_variant | MODIFIER | c.-128-47894_-128-47 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696976
|
ATTT | A | 10 | a0001c0001t0001g0081a0001c0001t0001g0118a0001c0001t0001g0143others(7): Show | 10 | HG00741.hp1 HG01943.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-128-47895_-128-47 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696976
|
ATTTTTT | A | 50 | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(47): Show | 50 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.-128-47898_-128-47 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | |||||
| chr3:99696980
|
T | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-47917T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696980 | ||||||
| chr3:99697010
|
G | A | 4 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-47887G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697010 | ||||||
| chr3:99697124
|
C | T | 2 | a0001c0001t0002g0247a0001c0001t0002g0249 | 2 | HG00140.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.-128-47773C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697124 | ||||||
| chr3:99697125
|
T | C | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-128-47772T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697125 | ||||||
| chr3:99697268
|
G | T | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-47629G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697268 | ||||||
| chr3:99697275
|
C | T | 45 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(42): Show | 47 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.-128-47622C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697275 | ||||||
| chr3:99697276
|
G | A | 14 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(11): Show | 15 | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-47621G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697276 | ||||||
| chr3:99697277
|
C | A | 13 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(10): Show | 14 | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.-128-47620C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697277 | ||||||
| chr3:99697441
|
A | G | 1 | a0001c0001t0001g0118 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-128-47456A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697441 | ||||||
| chr3:99697645
|
A | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-47252A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697645 | ||||||
| chr3:99697910
|
G | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0038others(42): Show | 47 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.-128-46987G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697910 | ||||||
| chr3:99698019
|
A | G | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-128-46878A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698019 | ||||||
| chr3:99698021
|
G | A | 4 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46876G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698021 | ||||||
| chr3:99698037
|
A | G | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46860A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698037 | ||||||
| chr3:99698185
|
A | G | 1 | a0001c0001t0005g0019 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-128-46712A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698185 | ||||||
| chr3:99698327
|
T | C | 4 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(1): Show | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46570T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698327 | ||||||
| chr3:99698328
|
A | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-46569A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698328 | ||||||
| chr3:99698348
|
G | A | 2 | a0001c0001t0008g0139a0001c0001t0008g0151 | 2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-46549G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698348 | ||||||
| chr3:99698781
|
T | C | 3 | a0001c0001t0011g0257a0001c0001t0017g0258a0001c0001t0035g0138 | 3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-46116T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698781 | ||||||
| chr3:99698837
|
A | C | 3 | a0001c0001t0001g0234a0001c0001t0005g0233a0001c0001t0017g0050 | 3 | HG02723.hp1 HG02818.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-128-46060A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698837 | ||||||
| chr3:99699083
|
T | A | 3 | a0001c0001t0002g0227a0001c0001t0006g0228a0001c0001t0006g0229 | 3 | HG01943.hp1 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-128-45814T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699083 | ||||||
| chr3:99699493
|
C | A | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-45404C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699493 | ||||||
| chr3:99699700
|
A | C | 23 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0077others(20): Show | 23 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.-128-45197A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699700 | ||||||
| chr3:99699728
|
A | C | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-45169A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699728 | ||||||
| chr3:99699757
|
C | G | 4 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-45140C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699757 | ||||||
| chr3:99699758
|
T | C | 4 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-45139T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699758 | ||||||
| chr3:99700037
|
C | T | 1 | a0001c0001t0013g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-128-44860C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700037 | ||||||
| chr3:99700076
|
C | T | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-128-44821C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700076 | ||||||
| chr3:99700106
|
A | G | 172 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(169): Show | 175 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.-128-44791A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700106 | ||||||
| chr3:99700192
|
G | A | 2 | a0001c0001t0001g0056a0001c0001t0001g0085 | 2 | HG01175.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.-128-44705G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700192 | ||||||
| chr3:99700224
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-128-44673C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700224 | ||||||
| chr3:99700235
|
C | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0001g0206others(10): Show | 14 | HG00735.hp1 HG02027.hp2 HG02083.hp1 others(11): Show |
intron_variant | MODIFIER | c.-128-44662C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700235 | ||||||
| chr3:99700248
|
A | C | 2 | a0001c0001t0003g0212a0001c0003t0036g0213 | 2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-44649A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700248 | ||||||
| chr3:99700303
|
GA | G | 6 | a0001c0001t0003g0130a0001c0001t0004g0070a0001c0001t0004g0071others(3): Show | 6 | HG00735.hp2 HG01109.hp1 HG01952.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-44582delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99700303 | |||||
| chr3:99700322
|
G | A | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-44575G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700322 | ||||||
| chr3:99700766
|
C | T | 4 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-44131C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700766 | ||||||
| chr3:99700877
|
C | T | 161 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(158): Show | 164 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.-128-44020C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700877 | ||||||
| chr3:99701009
|
G | A | 19 | a0001c0001t0001g0120a0001c0001t0001g0122a0001c0001t0001g0234others(16): Show | 19 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.-128-43888G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701009 | ||||||
| chr3:99701014
|
T | A | 210 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(207): Show | 214 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.-128-43883T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701014 | ||||||
| chr3:99701025
|
A | G | 29 | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0001g0077others(26): Show | 30 | HG00280.hp1 HG00735.hp1 HG01975.hp2 others(27): Show |
intron_variant | MODIFIER | c.-128-43872A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701025 | ||||||
| chr3:99701348
|
C | T | 52 | a0001c0001t0001g0237a0001c0001t0002g0154a0001c0001t0003g0088others(49): Show | 52 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.-128-43549C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701348 | ||||||
| chr3:99701384
|
G | A | 1 | a0001c0001t0014g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-128-43513G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701384 | ||||||
| chr3:99701444
|
G | A | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-128-43453G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701444 | ||||||
| chr3:99701467
|
G | A | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-43430G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701467 | ||||||
| chr3:99701467
|
G | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-43430G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701467 | ||||||
| chr3:99701740
|
A | C | 3 | a0001c0001t0007g0025a0001c0001t0007g0155a0001c0001t0007g0220 | 3 | HG01952.hp2 HG02970.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-128-43157A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701740 | ||||||
| chr3:99701791
|
A | G | 2 | a0001c0001t0001g0218a0001c0001t0006g0226 | 2 | HG02145.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-128-43106A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701791 | ||||||
| chr3:99701809
|
G | A | 1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-43088G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701809 | ||||||
| chr3:99702044
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-42853G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702044 | ||||||
| chr3:99702084
|
T | C | 1 | a0001c0001t0001g0060 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-128-42813T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702084 | ||||||
| chr3:99702476
|
A | G | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-42421A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702476 | ||||||
| chr3:99702649
|
T | C | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-42248T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702649 | ||||||
| chr3:99702739
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-128-42158G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702739 | ||||||
| chr3:99702845
|
C | T | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-42052C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702845 | ||||||
| chr3:99703117
|
T | G | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-128-41780T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703117 | ||||||
| chr3:99703236
|
A | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-128-41661A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703236 | ||||||
| chr3:99703243
|
G | C | 44 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(41): Show | 44 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(41): Show |
intron_variant | MODIFIER | c.-128-41654G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703243 | ||||||
| chr3:99703391
|
T | C | 8 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(5): Show | 8 | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.-128-41506T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703391 | ||||||
| chr3:99703582
|
A | T | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-41315A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703582 | ||||||
| chr3:99703607
|
A | G | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-41290A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703607 | ||||||
| chr3:99703639
|
C | T | 2 | a0001c0001t0002g0202a0001c0001t0002g0227 | 2 | HG01943.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.-128-41258C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703639 | ||||||
| chr3:99703671
|
G | A | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-41226G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703671 | ||||||
| chr3:99703699
|
A | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-41198A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703699 | ||||||
| chr3:99703710
|
G | A | 1 | a0001c0001t0002g0010 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-128-41187G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703710 | ||||||
| chr3:99703743
|
G | A | 103 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(100): Show | 106 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.-128-41154G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703743 | ||||||
| chr3:99703784
|
T | G | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-41113T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703784 | ||||||
| chr3:99704118
|
G | A | 4 | a0001c0001t0001g0218a0001c0001t0001g0230a0001c0001t0004g0157others(1): Show | 4 | HG02145.hp1 HG03209.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-40779G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704118 | ||||||
| chr3:99704206
|
G | A | 2 | a0001c0001t0001g0034a0001c0001t0001g0053 | 2 | HG02922.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-128-40691G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704206 | ||||||
| chr3:99704377
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-40520C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704377 | ||||||
| chr3:99704402
|
CT | C | 6 | a0001c0001t0021g0086a0001c0002t0010g0039a0001c0002t0010g0040others(3): Show | 6 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-128-40486delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99704402 | |||||
| chr3:99704414
|
GT | G | 7 | a0001c0001t0002g0010a0001c0001t0004g0094a0001c0001t0004g0121others(4): Show | 7 | HG02109.hp1 HG02630.hp2 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.-128-40473delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99704414 | |||||
| chr3:99704424
|
T | A | 9 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(6): Show | 9 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.-128-40473T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704424 | ||||||
| chr3:99704429
|
A | T | 192 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(189): Show | 194 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.-128-40468A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704429 | ||||||
| chr3:99704441
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-128-40456T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704441 | ||||||
| chr3:99705205
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-39692G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705205 | ||||||
| chr3:99705276
|
C | A | 18 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(15): Show | 18 | HG00741.hp2 HG01257.hp1 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.-128-39621C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705276 | ||||||
| chr3:99705398
|
G | A | 4 | a0001c0001t0005g0067a0001c0001t0005g0090a0001c0001t0005g0091others(1): Show | 4 | HG00741.hp1 HG01256.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-39499G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705398 | ||||||
| chr3:99705537
|
C | T | 3 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0157 | 3 | HG02615.hp1 HG03209.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-39360C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705537 | ||||||
| chr3:99706512
|
G | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-38385G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706512 | ||||||
| chr3:99706654
|
G | A | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-38243G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706654 | ||||||
| chr3:99706698
|
T | C | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-128-38199T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706698 | ||||||
| chr3:99706719
|
C | A | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-128-38178C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706719 | ||||||
| chr3:99706753
|
C | T | 8 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-38144C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706753 | ||||||
| chr3:99706758
|
C | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-38139C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706758 | ||||||
| chr3:99706763
|
A | G | 8 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231others(5): Show | 8 | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-38134A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706763 | ||||||
| chr3:99706825
|
A | G | 200 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(197): Show | 202 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(199): Show |
intron_variant | MODIFIER | c.-128-38072A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706825 | ||||||
| chr3:99706923
|
A | T | 212 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(209): Show | 214 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.-128-37974A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706923 | ||||||
| chr3:99707130
|
C | T | 1 | a0001c0001t0025g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-128-37767C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707130 | ||||||
| chr3:99707179
|
C | T | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-37718C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707179 | ||||||
| chr3:99707192
|
A | G | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-128-37705A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707192 | ||||||
| chr3:99707366
|
C | A | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-128-37531C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707366 | ||||||
| chr3:99707458
|
T | G | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-37439T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707458 | ||||||
| chr3:99707511
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-37386G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707511 | ||||||
| chr3:99707519
|
A | G | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-37378A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707519 | ||||||
| chr3:99707659
|
C | T | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-128-37238C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707659 | ||||||
| chr3:99707753
|
T | C | 1 | a0001c0001t0007g0255 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-128-37144T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707753 | ||||||
| chr3:99707755
|
A | T | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-37142A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707755 | ||||||
| chr3:99707953
|
G | A | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-128-36944G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707953 | ||||||
| chr3:99708481
|
G | T | 2 | a0001c0001t0001g0048a0001c0001t0001g0051 | 2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-128-36416G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708481 | ||||||
| chr3:99708533
|
GC | G | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-36361delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99708533 | |||||
| chr3:99708621
|
C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-36276C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708621 | ||||||
| chr3:99708708
|
A | G | 192 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(189): Show | 194 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.-128-36189A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708708 | ||||||
| chr3:99708813
|
T | A | 1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-36084T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708813 | ||||||
| chr3:99708930
|
C | T | 174 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(171): Show | 176 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(173): Show |
intron_variant | MODIFIER | c.-128-35967C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708930 | ||||||
| chr3:99708952
|
T | A | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-35945T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708952 | ||||||
| chr3:99709312
|
C | T | 174 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(171): Show | 176 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(173): Show |
intron_variant | MODIFIER | c.-128-35585C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709312 | ||||||
| chr3:99709391
|
C | A | 1 | a0001c0001t0005g0066 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-128-35506C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709391 | ||||||
| chr3:99709487
|
G | A | 1 | a0001c0001t0017g0050 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-128-35410G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709487 | ||||||
| chr3:99709496
|
T | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-35401T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709496 | ||||||
| chr3:99709887
|
G | A | 20 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(17): Show | 20 | HG00639.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.-128-35010G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709887 | ||||||
| chr3:99709908
|
G | A | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-128-34989G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709908 | ||||||
| chr3:99709989
|
A | T | 1 | a0001c0001t0030g0072 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-128-34908A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709989 | ||||||
| chr3:99710062
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-34835C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710062 | ||||||
| chr3:99710154
|
G | A | 94 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(91): Show | 96 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.-128-34743G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710154 | ||||||
| chr3:99710372
|
G | A | 3 | a0001c0001t0009g0013a0001c0001t0009g0022a0001c0001t0009g0083 | 3 | HG01952.hp1 NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.-128-34525G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710372 | ||||||
| chr3:99710828
|
G | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-34069G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710828 | ||||||
| chr3:99710928
|
T | C | 1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-128-33969T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710928 | ||||||
| chr3:99711121
|
AT | A | 187 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(184): Show | 189 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.-128-33769delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99711121 | |||||
| chr3:99711373
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-33524C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99711373 | ||||||
| chr3:99711516
|
T | A | 18 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0014others(15): Show | 18 | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-33381T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99711516 | ||||||
| chr3:99712049
|
C | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-32848C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712049 | ||||||
| chr3:99712141
|
C | T | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-32756C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712141 | ||||||
| chr3:99712279
|
C | T | 2 | a0001c0001t0001g0209a0001c0001t0024g0123 | 2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-32618C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712279 | ||||||
| chr3:99712305
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-32592G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712305 | ||||||
| chr3:99712382
|
G | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-32515G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712382 | ||||||
| chr3:99712431
|
T | C | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-32466T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712431 | ||||||
| chr3:99712454
|
C | T | 1 | a0001c0005t0001g0115 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-128-32443C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712454 | ||||||
| chr3:99712460
|
C | T | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-128-32437C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712460 | ||||||
| chr3:99712574
|
C | T | 49 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(46): Show | 49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-32323C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712574 | ||||||
| chr3:99712713
|
C | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-128-32184C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712713 | ||||||
| chr3:99712836
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-32061C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712836 | ||||||
| chr3:99713073
|
T | A | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-31824T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713073 | ||||||
| chr3:99713182
|
A | C | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-31715A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713182 | ||||||
| chr3:99713330
|
C | T | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-31567C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713330 | ||||||
| chr3:99713576
|
C | T | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-31321C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713576 | ||||||
| chr3:99713577
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-31320G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713577 | ||||||
| chr3:99713698
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-31199G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713698 | ||||||
| chr3:99713785
|
GA | G | 123 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(120): Show | 125 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(122): Show |
intron_variant | MODIFIER | c.-128-31102delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99713785 | |||||
| chr3:99713866
|
G | A | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-31031G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713866 | ||||||
| chr3:99714088
|
T | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-30809T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714088 | ||||||
| chr3:99714384
|
TC | T | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-30512delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714384 | ||||||
| chr3:99714416
|
T | C | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-30481T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714416 | ||||||
| chr3:99714937
|
G | T | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-29960G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714937 | ||||||
| chr3:99715096
|
T | A | 3 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0022g0182 | 3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-128-29801T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715096 | ||||||
| chr3:99715121
|
A | G | 1 | a0001c0001t0008g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-128-29776A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715121 | ||||||
| chr3:99715127
|
C | G | 1 | a0001c0001t0019g0179 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.-128-29770C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715127 | ||||||
| chr3:99715322
|
A | G | 193 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(190): Show | 195 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(192): Show |
intron_variant | MODIFIER | c.-128-29575A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715322 | ||||||
| chr3:99715369
|
C | A | 1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-128-29528C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715369 | ||||||
| chr3:99715392
|
A | T | 18 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-29505A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715392 | ||||||
| chr3:99715445
|
C | T | 2 | a0001c0001t0001g0216a0001c0001t0001g0217 | 2 | HG01975.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-128-29452C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715445 | ||||||
| chr3:99715568
|
G | A | 3 | a0001c0001t0012g0141a0001c0001t0012g0142a0001c0001t0012g0159 | 3 | HG01074.hp2 HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-128-29329G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715568 | ||||||
| chr3:99715815
|
T | C | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-29082T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715815 | ||||||
| chr3:99715846
|
G | A | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-128-29051G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715846 | ||||||
| chr3:99715882
|
G | T | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-29015G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715882 | ||||||
| chr3:99715961
|
C | T | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-28936C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715961 | ||||||
| chr3:99716022
|
T | C | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-28875T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716022 | ||||||
| chr3:99716238
|
C | T | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-28659C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716238 | ||||||
| chr3:99716258
|
T | C | 33 | a0001c0001t0001g0209a0001c0001t0003g0149a0001c0001t0003g0212others(30): Show | 33 | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-128-28639T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716258 | ||||||
| chr3:99716330
|
C | G | 33 | a0001c0001t0001g0209a0001c0001t0003g0149a0001c0001t0003g0212others(30): Show | 33 | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-128-28567C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716330 | ||||||
| chr3:99716519
|
A | G | 8 | a0001c0001t0002g0027a0001c0001t0002g0135a0001c0001t0002g0167others(5): Show | 8 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-28378A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716519 | ||||||
| chr3:99716555
|
A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-28342A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716555 | ||||||
| chr3:99716869
|
A | G | 1 | a0001c0001t0014g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-128-28028A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716869 | ||||||
| chr3:99717140
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-128-27757G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717140 | ||||||
| chr3:99717385
|
G | A | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-27512G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717385 | ||||||
| chr3:99717474
|
T | C | 1 | a0001c0001t0028g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-128-27423T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717474 | ||||||
| chr3:99717580
|
C | T | 193 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(190): Show | 195 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(192): Show |
intron_variant | MODIFIER | c.-128-27317C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717580 | ||||||
| chr3:99717613
|
C | T | 3 | a0001c0001t0001g0100a0001c0001t0001g0116a0001c0005t0001g0115 | 3 | HG02148.hp1 NA18964.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-128-27284C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717613 | ||||||
| chr3:99717619
|
G | A | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-27278G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717619 | ||||||
| chr3:99717703
|
T | C | 1 | a0001c0001t0003g0133 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-128-27194T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717703 | ||||||
| chr3:99717718
|
T | G | 2 | a0001c0001t0003g0150a0001c0001t0013g0032 | 2 | HG02896.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-128-27179T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717718 | ||||||
| chr3:99717726
|
T | C | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-27171T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717726 | ||||||
| chr3:99717991
|
C | T | 105 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(102): Show | 107 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(104): Show |
intron_variant | MODIFIER | c.-128-26906C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717991 | ||||||
| chr3:99718159
|
G | C | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-26738G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718159 | ||||||
| chr3:99718343
|
G | C | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-26554G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718343 | ||||||
| chr3:99718472
|
T | C | 1 | a0001c0001t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-128-26425T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718472 | ||||||
| chr3:99718521
|
G | C | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-128-26376G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718521 | ||||||
| chr3:99718701
|
C | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-128-26196C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718701 | ||||||
| chr3:99718792
|
G | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-26105G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718792 | ||||||
| chr3:99718904
|
C | T | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-128-25993C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718904 | ||||||
| chr3:99719054
|
C | T | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-128-25843C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719054 | ||||||
| chr3:99719415
|
C | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-25482C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719415 | ||||||
| chr3:99719471
|
G | A | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-25426G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719471 | ||||||
| chr3:99719786
|
T | C | 3 | a0001c0001t0002g0001a0001c0001t0002g0057a0001c0001t0002g0062 | 4 | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-25111T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719786 | ||||||
| chr3:99719976
|
A | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-24921A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719976 | ||||||
| chr3:99720061
|
G | A | 16 | a0001c0001t0001g0004a0001c0001t0001g0077a0001c0001t0001g0252others(13): Show | 17 | HG00280.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.-128-24836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720061 | ||||||
| chr3:99720075
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-24822C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720075 | ||||||
| chr3:99720546
|
A | C | 2 | a0001c0001t0004g0073a0001c0001t0004g0074 | 2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.-128-24351A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720546 | ||||||
| chr3:99720625
|
T | C | 3 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0032g0017 | 3 | NA18959.hp1 NA18981.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-128-24272T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720625 | ||||||
| chr3:99720801
|
T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-24096T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720801 | ||||||
| chr3:99721046
|
G | C | 3 | a0001c0001t0001g0009a0001c0001t0001g0109a0001c0001t0015g0003 | 4 | HG01109.hp2 HG01516.hp2 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-23851G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721046 | ||||||
| chr3:99721292
|
G | A | 1 | a0001c0001t0025g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-128-23605G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721292 | ||||||
| chr3:99721369
|
C | CA | 164 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(161): Show | 166 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.-128-23513dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721369 | |||||
| chr3:99721369
|
C | CAA | 26 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0033others(23): Show | 27 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.-128-23514_-128-23 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721369 | |||||
| chr3:99721399
|
A | G | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-23498A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721399 | ||||||
| chr3:99721430
|
AAAGGGG | A | 149 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(146): Show | 151 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(148): Show |
intron_variant | MODIFIER | c.-128-23449_-128-23 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721430 | |||||
| chr3:99721436
|
G | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23461G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721436 | ||||||
| chr3:99721498
|
A | G | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-23399A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721498 | ||||||
| chr3:99721554
|
A | G | 1 | a0001c0001t0002g0168 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-128-23343A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721554 | ||||||
| chr3:99721592
|
A | C | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23305A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721592 | ||||||
| chr3:99721593
|
G | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23304G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721593 | ||||||
| chr3:99721594
|
A | G | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23303A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721594 | ||||||
| chr3:99721712
|
C | A | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-23185C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721712 | ||||||
| chr3:99721881
|
G | T | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-128-23016G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721881 | ||||||
| chr3:99721883
|
GT | G | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-23003delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721883 | |||||
| chr3:99721937
|
C | T | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-22960C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721937 | ||||||
| chr3:99721948
|
G | T | 1 | a0001c0001t0013g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-128-22949G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721948 | ||||||
| chr3:99721987
|
T | C | 4 | a0001c0001t0001g0209a0001c0001t0023g0037a0001c0001t0024g0123others(1): Show | 4 | HG02280.hp1 HG02486.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-22910T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721987 | ||||||
| chr3:99722074
|
C | T | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-128-22823C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722074 | ||||||
| chr3:99722181
|
A | G | 1 | a0001c0001t0002g0170 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-128-22716A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722181 | ||||||
| chr3:99722197
|
C | T | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-22700C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722197 | ||||||
| chr3:99722397
|
G | A | 99 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(96): Show | 101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-128-22500G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722397 | ||||||
| chr3:99722501
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-22396G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722501 | ||||||
| chr3:99722629
|
A | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-128-22268A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722629 | ||||||
| chr3:99722657
|
C | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-22240C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722657 | ||||||
| chr3:99722805
|
G | A | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-22092G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722805 | ||||||
| chr3:99722836
|
A | G | 19 | a0001c0001t0001g0147a0001c0001t0001g0161a0001c0001t0001g0165others(16): Show | 19 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(16): Show |
intron_variant | MODIFIER | c.-128-22061A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722836 | ||||||
| chr3:99722862
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-22035C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722862 | ||||||
| chr3:99722938
|
G | T | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-21959G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722938 | ||||||
| chr3:99722956
|
A | C | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-128-21941A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722956 | ||||||
| chr3:99722966
|
G | A | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-21931G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722966 | ||||||
| chr3:99723003
|
T | TTG | 27 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(24): Show | 27 | HG00438.hp1 HG00735.hp1 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.-128-21864_-128-21 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
T | TTGTG | 91 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(88): Show | 93 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.-128-21866_-128-21 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
T | TTGTGTG | 13 | a0001c0001t0001g0244a0001c0001t0004g0157a0001c0001t0004g0253others(10): Show | 13 | HG00558.hp2 HG02109.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-21868_-128-21 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
T | TTGTGTGT others(1): Show |
5 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(2): Show | 5 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-128-21870_-128-21 others(14): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
T | TTGTGTGT others(3): Show |
3 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0024g0123 | 3 | HG02486.hp1 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-21872_-128-21 others(16): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
T | TTGTGTGT others(5): Show |
3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-21874_-128-21 others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723003
|
TTG | T | 48 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(45): Show | 48 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(45): Show |
intron_variant | MODIFIER | c.-128-21864_-128-21 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | |||||
| chr3:99723125
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-21772A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723125 | ||||||
| chr3:99723318
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-21579C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723318 | ||||||
| chr3:99723371
|
G | A | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-21526G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723371 | ||||||
| chr3:99723448
|
C | T | 1 | a0001c0001t0006g0221 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-128-21449C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723448 | ||||||
| chr3:99723575
|
G | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-21322G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723575 | ||||||
| chr3:99723646
|
A | T | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-21251A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723646 | ||||||
| chr3:99723647
|
T | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-21250T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723647 | ||||||
| chr3:99723823
|
C | T | 6 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(3): Show | 6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-21074C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723823 | ||||||
| chr3:99723901
|
A | G | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-20996A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723901 | ||||||
| chr3:99723909
|
T | C | 211 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(208): Show | 213 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.-128-20988T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723909 | ||||||
| chr3:99723936
|
C | T | 49 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(46): Show | 49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-20961C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723936 | ||||||
| chr3:99723965
|
C | T | 104 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(101): Show | 106 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.-128-20932C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723965 | ||||||
| chr3:99724063
|
T | G | 1 | a0001c0001t0027g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-128-20834T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724063 | ||||||
| chr3:99724106
|
C | T | 193 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(190): Show | 195 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(192): Show |
intron_variant | MODIFIER | c.-128-20791C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724106 | ||||||
| chr3:99724259
|
A | G | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-20638A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724259 | ||||||
| chr3:99724345
|
A | G | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-20552A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724345 | ||||||
| chr3:99724631
|
A | G | 2 | a0001c0001t0016g0020a0001c0001t0016g0021 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-128-20266A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724631 | ||||||
| chr3:99725073
|
A | G | 1 | a0001c0001t0002g0163 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-128-19824A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725073 | ||||||
| chr3:99725120
|
A | G | 16 | a0001c0001t0003g0185a0001c0001t0003g0186a0001c0001t0003g0187others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-128-19777A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725120 | ||||||
| chr3:99725244
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-19653C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725244 | ||||||
| chr3:99725246
|
G | C | 1 | a0001c0001t0002g0136 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-128-19651G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725246 | ||||||
| chr3:99725283
|
G | A | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-19614G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725283 | ||||||
| chr3:99725353
|
A | T | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-128-19544A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725353 | ||||||
| chr3:99725416
|
T | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-19481T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725416 | ||||||
| chr3:99725432
|
T | C | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-19465T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725432 | ||||||
| chr3:99725570
|
C | T | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-19327C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725570 | ||||||
| chr3:99725577
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-19320T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725577 | ||||||
| chr3:99725686
|
T | C | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-19211T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725686 | ||||||
| chr3:99725860
|
T | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-19037T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725860 | ||||||
| chr3:99725948
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-128-18949T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725948 | ||||||
| chr3:99726132
|
T | A | 4 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(1): Show | 4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-18765T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726132 | ||||||
| chr3:99726324
|
T | A | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-128-18573T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726324 | ||||||
| chr3:99726547
|
C | G | 1 | a0001c0001t0001g0124 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.-128-18350C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726547 | ||||||
| chr3:99726566
|
T | G | 1 | a0001c0001t0015g0003 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.-128-18331T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726566 | ||||||
| chr3:99726614
|
T | A | 1 | a0001c0001t0001g0101 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.-128-18283T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726614 | ||||||
| chr3:99726625
|
C | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-18272C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726625 | ||||||
| chr3:99726729
|
C | T | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-18168C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726729 | ||||||
| chr3:99726730
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-18167G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726730 | ||||||
| chr3:99726733
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-18164G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726733 | ||||||
| chr3:99726770
|
T | C | 58 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(55): Show | 58 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.-128-18127T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726770 | ||||||
| chr3:99726785
|
A | C | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-128-18112A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726785 | ||||||
| chr3:99726817
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-18080T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726817 | ||||||
| chr3:99726887
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-18010C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726887 | ||||||
| chr3:99726893
|
G | A | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-18004G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726893 | ||||||
| chr3:99726905
|
G | A | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-17992G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726905 | ||||||
| chr3:99727018
|
CATG | C | 104 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(101): Show | 106 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.-128-17876_-128-17 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99727018 | |||||
| chr3:99727087
|
A | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-17810A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727087 | ||||||
| chr3:99727446
|
G | C | 94 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(91): Show | 96 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.-128-17451G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727446 | ||||||
| chr3:99727488
|
T | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-128-17409T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727488 | ||||||
| chr3:99727759
|
C | T | 2 | a0001c0001t0005g0171a0001c0001t0032g0017 | 2 | HG00438.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.-128-17138C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727759 | ||||||
| chr3:99727777
|
C | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-17120C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727777 | ||||||
| chr3:99727783
|
C | A | 1 | a0001c0001t0003g0188 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-128-17114C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727783 | ||||||
| chr3:99727943
|
C | T | 2 | a0001c0002t0010g0040a0001c0002t0010g0042 | 2 | HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-128-16954C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727943 | ||||||
| chr3:99727985
|
C | T | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-16912C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727985 | ||||||
| chr3:99727986
|
A | G | 184 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(181): Show | 186 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(183): Show |
intron_variant | MODIFIER | c.-128-16911A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727986 | ||||||
| chr3:99728030
|
A | G | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-16867A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728030 | ||||||
| chr3:99728032
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-16865G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728032 | ||||||
| chr3:99728093
|
A | G | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-16804A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728093 | ||||||
| chr3:99728122
|
G | C | 1 | a0001c0001t0004g0070 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-128-16775G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728122 | ||||||
| chr3:99728217
|
T | A | 1 | a0001c0001t0002g0164 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-128-16680T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728217 | ||||||
| chr3:99728492
|
A | T | 6 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(3): Show | 6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-16405A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728492 | ||||||
| chr3:99728613
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-16284G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728613 | ||||||
| chr3:99728709
|
TTGTA | T | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-16185_-128-16 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99728709 | |||||
| chr3:99728837
|
T | C | 2 | a0001c0001t0016g0020a0001c0001t0016g0021 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-128-16060T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728837 | ||||||
| chr3:99728859
|
T | C | 1 | a0001c0001t0013g0128 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-128-16038T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728859 | ||||||
| chr3:99728928
|
T | G | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-15969T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728928 | ||||||
| chr3:99729092
|
T | C | 1 | a0001c0001t0002g0134 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-128-15805T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729092 | ||||||
| chr3:99729113
|
T | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-15784T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729113 | ||||||
| chr3:99729259
|
T | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-15638T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729259 | ||||||
| chr3:99729264
|
T | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-15633T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729264 | ||||||
| chr3:99729468
|
T | A | 1 | a0001c0001t0003g0150 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-128-15429T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729468 | ||||||
| chr3:99729492
|
G | A | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-15405G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729492 | ||||||
| chr3:99729508
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-15389T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729508 | ||||||
| chr3:99729623
|
A | G | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-15274A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729623 | ||||||
| chr3:99729934
|
C | T | 4 | a0001c0001t0001g0038a0001c0001t0001g0103a0001c0001t0001g0104others(1): Show | 4 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-14963C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729934 | ||||||
| chr3:99730008
|
A | G | 94 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(91): Show | 96 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.-128-14889A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730008 | ||||||
| chr3:99730062
|
A | T | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-14835A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730062 | ||||||
| chr3:99730071
|
G | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-14826G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730071 | ||||||
| chr3:99730281
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-128-14616C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730281 | ||||||
| chr3:99730363
|
C | T | 257 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(254): Show | 261 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
intron_variant | MODIFIER | c.-128-14534C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730363 | ||||||
| chr3:99730412
|
C | T | 5 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230others(2): Show | 5 | HG02145.hp1 HG03041.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.-128-14485C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730412 | ||||||
| chr3:99730423
|
A | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-14474A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730423 | ||||||
| chr3:99730442
|
G | A | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-128-14455G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730442 | ||||||
| chr3:99730482
|
G | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-14415G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730482 | ||||||
| chr3:99730553
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-14344C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730553 | ||||||
| chr3:99730599
|
C | G | 6 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(3): Show | 6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-14298C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730599 | ||||||
| chr3:99730783
|
G | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-14114G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730783 | ||||||
| chr3:99730905
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0043a0001c0001t0001g0048others(8): Show | 11 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-128-13992C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730905 | ||||||
| chr3:99730944
|
T | A | 1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-128-13953T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730944 | ||||||
| chr3:99730952
|
C | G | 1 | a0001c0001t0001g0054 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-128-13945C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730952 | ||||||
| chr3:99731075
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-13822G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731075 | ||||||
| chr3:99731133
|
G | A | 1 | a0001c0001t0001g0161 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.-128-13764G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731133 | ||||||
| chr3:99731343
|
G | C | 104 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(101): Show | 106 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.-128-13554G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731343 | ||||||
| chr3:99731591
|
C | A | 1 | a0001c0005t0001g0115 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-128-13306C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731591 | ||||||
| chr3:99731625
|
A | G | 85 | a0001c0001t0001g0209a0001c0001t0002g0135a0001c0001t0002g0154others(82): Show | 85 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.-128-13272A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731625 | ||||||
| chr3:99731836
|
G | A | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-13061G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731836 | ||||||
| chr3:99732022
|
G | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-12875G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732022 | ||||||
| chr3:99732126
|
T | C | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-12771T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732126 | ||||||
| chr3:99732456
|
G | A | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-12441G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732456 | ||||||
| chr3:99732496
|
G | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-12401G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732496 | ||||||
| chr3:99732555
|
G | C | 1 | a0001c0001t0001g0023 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-128-12342G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732555 | ||||||
| chr3:99732627
|
T | C | 1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-128-12270T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732627 | ||||||
| chr3:99732690
|
C | T | 1 | a0001c0001t0001g0056 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-128-12207C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732690 | ||||||
| chr3:99732701
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-12196G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732701 | ||||||
| chr3:99732807
|
A | C | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-128-12090A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732807 | ||||||
| chr3:99732862
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-12035C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732862 | ||||||
| chr3:99733027
|
G | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-128-11870G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733027 | ||||||
| chr3:99733118
|
CT | C | 87 | a0001c0001t0001g0043a0001c0001t0001g0143a0001c0001t0001g0209others(84): Show | 87 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.-128-11763delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733118 | |||||
| chr3:99733119
|
T | C | 1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-11778T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733119 | ||||||
| chr3:99733143
|
T | C | 103 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(100): Show | 105 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.-128-11754T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733143 | ||||||
| chr3:99733144
|
T | C | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-128-11753T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733144 | ||||||
| chr3:99733148
|
T | A | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-11749T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733148 | ||||||
| chr3:99733148
|
TTTA | T | 26 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(23): Show | 26 | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.-128-11735_-128-11 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733148 | |||||
| chr3:99733261
|
T | C | 2 | a0001c0001t0017g0050a0001c0001t0017g0258 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-11636T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733261 | ||||||
| chr3:99733379
|
C | A | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11518C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733379 | ||||||
| chr3:99733381
|
C | G | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11516C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733381 | ||||||
| chr3:99733383
|
G | C | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11514G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733383 | ||||||
| chr3:99733394
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-11503T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733394 | ||||||
| chr3:99733396
|
G | A | 1 | a0001c0001t0007g0155 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-128-11501G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733396 | ||||||
| chr3:99733404
|
T | C | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-11493T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733404 | ||||||
| chr3:99733418
|
G | A | 3 | a0001c0001t0003g0172a0001c0001t0003g0173a0001c0003t0036g0213 | 3 | HG01257.hp1 HG01258.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-11479G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733418 | ||||||
| chr3:99733432
|
AATG | A | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11459_-128-11 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733432 | |||||
| chr3:99733494
|
C | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-11403C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733494 | ||||||
| chr3:99733523
|
C | A | 1 | a0001c0001t0001g0116 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-128-11374C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733523 | ||||||
| chr3:99733597
|
C | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-11300C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733597 | ||||||
| chr3:99733611
|
G | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-11286G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733611 | ||||||
| chr3:99733616
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-11281T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733616 | ||||||
| chr3:99733654
|
G | T | 1 | a0001c0001t0003g0185 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-128-11243G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733654 | ||||||
| chr3:99733662
|
C | A | 4 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(1): Show | 4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-11235C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733662 | ||||||
| chr3:99733738
|
G | T | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-11159G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733738 | ||||||
| chr3:99733784
|
A | G | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-11113A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733784 | ||||||
| chr3:99733812
|
T | A | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-11085T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733812 | ||||||
| chr3:99733866
|
A | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-11031A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733866 | ||||||
| chr3:99733937
|
T | G | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-10960T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733937 | ||||||
| chr3:99733972
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-10925C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733972 | ||||||
| chr3:99733975
|
C | T | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-10922C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733975 | ||||||
| chr3:99734101
|
C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-10796C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734101 | ||||||
| chr3:99734107
|
A | C | 13 | a0001c0001t0001g0006a0001c0001t0001g0034a0001c0001t0001g0043others(10): Show | 13 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-10790A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734107 | ||||||
| chr3:99734124
|
C | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-10773C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734124 | ||||||
| chr3:99734148
|
G | A | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-128-10749G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734148 | ||||||
| chr3:99734192
|
G | A | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-10705G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734192 | ||||||
| chr3:99734238
|
G | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10659G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734238 | ||||||
| chr3:99734242
|
A | G | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10655A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734242 | ||||||
| chr3:99734246
|
T | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10651T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734246 | ||||||
| chr3:99734265
|
G | C | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-10632G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734265 | ||||||
| chr3:99734266
|
G | A | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-10631G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734266 | ||||||
| chr3:99734274
|
G | T | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10623G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734274 | ||||||
| chr3:99734275
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10622G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734275 | ||||||
| chr3:99734290
|
A | G | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10607A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734290 | ||||||
| chr3:99734301
|
C | T | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10596C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734301 | ||||||
| chr3:99734305
|
C | G | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10592C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734305 | ||||||
| chr3:99734317
|
A | G | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10580A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734317 | ||||||
| chr3:99734393
|
T | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10504T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734393 | ||||||
| chr3:99734401
|
T | C | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-10496T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734401 | ||||||
| chr3:99734470
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10427T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734470 | ||||||
| chr3:99734600
|
C | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-128-10297C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734600 | ||||||
| chr3:99734626
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-10271G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734626 | ||||||
| chr3:99734630
|
C | T | 4 | a0001c0001t0012g0141a0001c0001t0012g0142a0001c0001t0012g0159others(1): Show | 4 | HG01074.hp2 HG03927.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-10267C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734630 | ||||||
| chr3:99734670
|
T | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-10227T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734670 | ||||||
| chr3:99734686
|
G | T | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-10211G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734686 | ||||||
| chr3:99734782
|
G | A | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-128-10115G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734782 | ||||||
| chr3:99734803
|
G | C | 4 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0017g0050others(1): Show | 4 | HG02615.hp1 HG02818.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-10094G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734803 | ||||||
| chr3:99734868
|
C | G | 1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-128-10029C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734868 | ||||||
| chr3:99734946
|
CTGTT | C | 49 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(46): Show | 49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-9947_-128-994 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99734946 | |||||
| chr3:99735057
|
T | C | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-128-9840T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735057 | ||||||
| chr3:99735061
|
G | A | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-128-9836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735061 | ||||||
| chr3:99735141
|
T | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-9756T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735141 | ||||||
| chr3:99735157
|
A | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-9740A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735157 | ||||||
| chr3:99735183
|
C | G | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-9714C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735183 | ||||||
| chr3:99735283
|
G | C | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-9614G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735283 | ||||||
| chr3:99735364
|
C | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9533C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735364 | ||||||
| chr3:99735369
|
A | G | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9528A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735369 | ||||||
| chr3:99735376
|
G | T | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-9521G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735376 | ||||||
| chr3:99735385
|
C | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9512C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735385 | ||||||
| chr3:99735424
|
G | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9473G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735424 | ||||||
| chr3:99735428
|
G | A | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9469G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735428 | ||||||
| chr3:99735429
|
T | C | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9468T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735429 | ||||||
| chr3:99735438
|
T | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-9459T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735438 | ||||||
| chr3:99735442
|
C | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(226): Show | 232 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.-128-9455C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735442 | ||||||
| chr3:99735580
|
A | G | 1 | a0001c0001t0005g0091 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-128-9317A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735580 | ||||||
| chr3:99735686
|
C | T | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-9211C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735686 | ||||||
| chr3:99735732
|
G | C | 1 | a0001c0001t0002g0251 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-128-9165G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735732 | ||||||
| chr3:99735759
|
C | T | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-9138C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735759 | ||||||
| chr3:99735779
|
C | T | 2 | a0001c0001t0023g0037a0001c0001t0026g0156 | 2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-128-9118C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735779 | ||||||
| chr3:99735794
|
C | G | 1 | a0001c0001t0013g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-9103C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735794 | ||||||
| chr3:99735898
|
G | T | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8999G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735898 | ||||||
| chr3:99735905
|
T | C | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-8992T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735905 | ||||||
| chr3:99736034
|
TTC | T | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8857_-128-885 others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736034 | |||||
| chr3:99736040
|
CTTTT | C | 99 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(96): Show | 101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-128-8853_-128-885 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736040 | |||||
| chr3:99736327
|
G | A | 1 | a0001c0001t0002g0162 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-128-8570G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736327 | ||||||
| chr3:99736371
|
C | T | 67 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8526C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736371 | ||||||
| chr3:99736389
|
T | A | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-8508T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736389 | ||||||
| chr3:99736399
|
T | A | 1 | a0001c0001t0004g0094 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.-128-8498T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736399 | ||||||
| chr3:99736536
|
C | T | 3 | a0001c0001t0001g0031a0001c0001t0001g0048a0001c0001t0001g0051 | 3 | HG00735.hp1 HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-128-8361C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736536 | ||||||
| chr3:99736568
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-8329T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736568 | ||||||
| chr3:99736596
|
TA | T | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-8299delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736596 | |||||
| chr3:99736778
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-8119G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736778 | ||||||
| chr3:99736799
|
G | C | 1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-128-8098G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736799 | ||||||
| chr3:99736822
|
G | A | 11 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(8): Show | 11 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-128-8075G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736822 | ||||||
| chr3:99736875
|
T | C | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-128-8022T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736875 | ||||||
| chr3:99737170
|
A | T | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-7727A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737170 | ||||||
| chr3:99737187
|
G | A | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7710G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737187 | ||||||
| chr3:99737188
|
T | C | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7709T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737188 | ||||||
| chr3:99737335
|
C | T | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-7562C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737335 | ||||||
| chr3:99737367
|
G | A | 99 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(96): Show | 101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-128-7530G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737367 | ||||||
| chr3:99737376
|
A | T | 187 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(184): Show | 189 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.-128-7521A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737376 | ||||||
| chr3:99737503
|
T | C | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7394T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737503 | ||||||
| chr3:99737526
|
C | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-7371C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737526 | ||||||
| chr3:99737705
|
C | T | 83 | a0001c0001t0001g0104a0001c0001t0001g0209a0001c0001t0002g0154others(80): Show | 83 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.-128-7192C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737705 | ||||||
| chr3:99737931
|
A | G | 1 | a0001c0001t0001g0060 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-128-6966A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737931 | ||||||
| chr3:99737959
|
G | A | 3 | a0001c0001t0003g0192a0001c0001t0003g0196a0001c0001t0003g0198 | 3 | HG00597.hp1 NA18942.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.-128-6938G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737959 | ||||||
| chr3:99737986
|
T | C | 1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-128-6911T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737986 | ||||||
| chr3:99738059
|
C | T | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-128-6838C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738059 | ||||||
| chr3:99738081
|
T | A | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-128-6816T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738081 | ||||||
| chr3:99738298
|
A | G | 212 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(209): Show | 214 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.-128-6599A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738298 | ||||||
| chr3:99738333
|
G | GT | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-6558dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99738333 | |||||
| chr3:99738484
|
G | A | 3 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0003t0036g0213 | 3 | HG02615.hp1 HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-6413G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738484 | ||||||
| chr3:99738547
|
G | A | 12 | a0001c0001t0001g0209a0001c0001t0006g0207a0001c0001t0006g0210others(9): Show | 12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-6350G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738547 | ||||||
| chr3:99738599
|
G | A | 9 | a0001c0001t0001g0237a0001c0001t0002g0027a0001c0001t0002g0135others(6): Show | 9 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.-128-6298G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738599 | ||||||
| chr3:99738712
|
C | T | 4 | a0001c0001t0001g0209a0001c0001t0003g0149a0001c0001t0003g0212others(1): Show | 4 | HG02486.hp1 HG02615.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-6185C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738712 | ||||||
| chr3:99738742
|
TG | T | 94 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(91): Show | 96 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.-128-6152delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99738742 | |||||
| chr3:99738822
|
C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-6075C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738822 | ||||||
| chr3:99738825
|
C | T | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-128-6072C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738825 | ||||||
| chr3:99738858
|
G | C | 15 | a0001c0001t0001g0209a0001c0001t0004g0208a0001c0001t0006g0207others(12): Show | 15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-6039G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738858 | ||||||
| chr3:99738871
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-6026G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738871 | ||||||
| chr3:99738872
|
C | T | 1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-128-6025C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738872 | ||||||
| chr3:99738873
|
G | A | 4 | a0001c0001t0001g0031a0001c0001t0001g0206a0001c0001t0001g0216others(1): Show | 4 | HG00735.hp1 HG01975.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-6024G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738873 | ||||||
| chr3:99738887
|
G | A | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-6010G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738887 | ||||||
| chr3:99738933
|
G | A | 4 | a0001c0001t0001g0112a0001c0001t0004g0208a0001c0001t0013g0084others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-5964G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738933 | ||||||
| chr3:99738945
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-128-5952C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738945 | ||||||
| chr3:99739017
|
C | G | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-128-5880C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739017 | ||||||
| chr3:99739045
|
C | T | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-128-5852C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739045 | ||||||
| chr3:99739052
|
C | T | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-5845C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739052 | ||||||
| chr3:99739091
|
G | A | 4 | a0001c0001t0003g0188a0001c0001t0003g0190a0001c0001t0003g0194others(1): Show | 4 | HG02523.hp2 NA18969.hp1 NA18980.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-5806G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739091 | ||||||
| chr3:99739097
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-128-5800C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739097 | ||||||
| chr3:99739196
|
A | G | 1 | a0001c0001t0008g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-128-5701A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739196 | ||||||
| chr3:99739316
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-5581C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739316 | ||||||
| chr3:99739333
|
C | T | 4 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256others(1): Show | 4 | HG02257.hp2 HG02559.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-5564C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739333 | ||||||
| chr3:99739603
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-5294G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739603 | ||||||
| chr3:99739783
|
A | G | 3 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0003t0036g0213 | 3 | HG02615.hp1 HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-5114A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739783 | ||||||
| chr3:99739898
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-4999T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739898 | ||||||
| chr3:99739907
|
A | T | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-128-4990A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739907 | ||||||
| chr3:99740016
|
T | C | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-4881T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740016 | ||||||
| chr3:99740036
|
G | A | 3 | a0001c0001t0004g0208a0001c0001t0013g0084a0001c0001t0037g0231 | 3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-4861G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740036 | ||||||
| chr3:99740103
|
G | T | 2 | a0001c0001t0017g0050a0001c0001t0017g0258 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-4794G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740103 | ||||||
| chr3:99740117
|
T | C | 4 | a0001c0001t0004g0012a0001c0001t0004g0076a0001c0001t0004g0121others(1): Show | 4 | HG02129.hp1 NA18942.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-4780T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740117 | ||||||
| chr3:99740121
|
A | C | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-4776A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740121 | ||||||
| chr3:99740139
|
C | A | 3 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0068 | 3 | HG01168.hp1 HG01169.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.-128-4758C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740139 | ||||||
| chr3:99740207
|
C | T | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-4690C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740207 | ||||||
| chr3:99740391
|
A | T | 64 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-4506A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740391 | ||||||
| chr3:99740392
|
T | A | 99 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(96): Show | 101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-128-4505T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740392 | ||||||
| chr3:99740435
|
G | T | 2 | a0001c0001t0004g0093a0001c0001t0004g0094 | 2 | HG02683.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.-128-4462G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740435 | ||||||
| chr3:99740465
|
C | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-4432C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740465 | ||||||
| chr3:99740620
|
T | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-4277T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740620 | ||||||
| chr3:99740647
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-4250A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740647 | ||||||
| chr3:99740825
|
C | T | 212 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(209): Show | 214 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.-128-4072C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740825 | ||||||
| chr3:99740903
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-3994G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740903 | ||||||
| chr3:99741069
|
T | C | 3 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0006g0129 | 3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-128-3828T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741069 | ||||||
| chr3:99741178
|
T | C | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-3719T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741178 | ||||||
| chr3:99741359
|
A | C | 16 | a0001c0001t0001g0004a0001c0001t0001g0077a0001c0001t0001g0252others(13): Show | 17 | HG00280.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.-128-3538A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741359 | ||||||
| chr3:99741454
|
C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-3443C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741454 | ||||||
| chr3:99741459
|
G | C | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-3438G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741459 | ||||||
| chr3:99741990
|
A | T | 2 | a0001c0001t0003g0088a0001c0001t0006g0129 | 2 | NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-128-2907A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741990 | ||||||
| chr3:99742170
|
G | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-2727G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742170 | ||||||
| chr3:99742276
|
G | A | 187 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(184): Show | 189 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.-128-2621G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742276 | ||||||
| chr3:99742298
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-2599A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742298 | ||||||
| chr3:99742302
|
C | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-2595C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742302 | ||||||
| chr3:99742386
|
C | T | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-2511C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742386 | ||||||
| chr3:99742684
|
T | G | 2 | a0001c0001t0003g0150a0001c0001t0013g0032 | 2 | HG02896.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-128-2213T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742684 | ||||||
| chr3:99742697
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-128-2200C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742697 | ||||||
| chr3:99742732
|
C | A | 1 | a0001c0001t0016g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-128-2165C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742732 | ||||||
| chr3:99742872
|
T | C | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-2025T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742872 | ||||||
| chr3:99742880
|
A | C | 1 | a0001c0001t0008g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-2017A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742880 | ||||||
| chr3:99743378
|
G | A | 82 | a0001c0001t0001g0209a0001c0001t0002g0154a0001c0001t0003g0088others(79): Show | 82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-1519G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743378 | ||||||
| chr3:99743413
|
A | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-1484A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743413 | ||||||
| chr3:99743601
|
AAATT | A | 53 | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(50): Show | 53 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.-128-1289_-128-128 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99743601 | |||||
| chr3:99743644
|
A | G | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-1253A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743644 | ||||||
| chr3:99743803
|
G | A | 187 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(184): Show | 189 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.-128-1094G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743803 | ||||||
| chr3:99743930
|
C | CT | 18 | a0001c0001t0002g0232a0001c0001t0004g0012a0001c0001t0004g0070others(15): Show | 18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-951dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99743930 | |||||
| chr3:99743952
|
G | A | 1 | a0001c0001t0004g0121 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-128-945G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743952 | ||||||
| chr3:99743991
|
C | G | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-906C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743991 | ||||||
| chr3:99744006
|
G | A | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-891G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744006 | ||||||
| chr3:99744119
|
A | T | 1 | a0001c0001t0019g0179 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.-128-778A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744119 | ||||||
| chr3:99744220
|
G | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-677G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744220 | ||||||
| chr3:99744455
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-442A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744455 | ||||||
| chr3:99744552
|
T | G | 1 | a0001c0001t0009g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-345T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744552 | ||||||
| chr3:99744717
|
A | G | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-180A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744717 | ||||||
| chr3:99744837
|
T | TAC | 196 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(193): Show | 199 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(196): Show |
intron_variant | MODIFIER | c.-128-59_-128-58dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99744837 | |||||
| chr3:99745048
|
G | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-4+27G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745048 | ||||||
| chr3:99745050
|
G | A | 2 | a0001c0001t0004g0093a0001c0001t0004g0094 | 2 | HG02683.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.-4+29G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745050 | ||||||
| chr3:99745256
|
C | T | 10 | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0030others(7): Show | 10 | HG00558.hp1 HG01952.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.-4+235C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745256 | ||||||
| chr3:99745308
|
T | C | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+287T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745308 | ||||||
| chr3:99745544
|
G | C | 79 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+523G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745544 | ||||||
| chr3:99745814
|
A | G | 1 | a0001c0001t0002g0027 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+793A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745814 | ||||||
| chr3:99745832
|
GA | G | 103 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(100): Show | 103 | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(100): Show |
intron_variant | MODIFIER | c.-4+823delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99745832 | |||||
| chr3:99746010
|
T | C | 2 | a0001c0001t0004g0070a0001c0001t0004g0071 | 2 | HG01109.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-4+989T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746010 | ||||||
| chr3:99746028
|
G | T | 1 | a0001c0001t0008g0139 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-4+1007G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746028 | ||||||
| chr3:99746031
|
T | C | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+1010T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746031 | ||||||
| chr3:99746033
|
G | T | 56 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(53): Show | 56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-4+1012G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746033 | ||||||
| chr3:99746082
|
C | A | 17 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+1061C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746082 | ||||||
| chr3:99746145
|
C | G | 2 | a0001c0001t0007g0045a0001c0001t0007g0166 | 2 | HG02486.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-4+1124C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746145 | ||||||
| chr3:99746337
|
T | C | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+1316T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746337 | ||||||
| chr3:99746740
|
T | A | 257 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(254): Show | 261 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
intron_variant | MODIFIER | c.-4+1719T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746740 | ||||||
| chr3:99746885
|
T | G | 79 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+1864T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746885 | ||||||
| chr3:99747139
|
T | A | 55 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(52): Show | 58 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.-4+2118T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747139 | ||||||
| chr3:99747235
|
G | T | 16 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0014others(13): Show | 16 | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(13): Show |
intron_variant | MODIFIER | c.-4+2214G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747235 | ||||||
| chr3:99747267
|
T | C | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+2246T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747267 | ||||||
| chr3:99747279
|
A | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+2258A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747279 | ||||||
| chr3:99747642
|
C | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | HG02080.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.-4+2621C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747642 | ||||||
| chr3:99747687
|
A | G | 10 | a0001c0001t0002g0001a0001c0001t0002g0018a0001c0001t0002g0057others(7): Show | 11 | HG00140.hp1 HG00738.hp1 HG00741.hp2 others(8): Show |
intron_variant | MODIFIER | c.-4+2666A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747687 | ||||||
| chr3:99747718
|
T | C | 1 | a0001c0001t0001g0065 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-4+2697T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747718 | ||||||
| chr3:99747723
|
G | T | 1 | a0001c0001t0004g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-4+2702G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747723 | ||||||
| chr3:99748056
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+3035T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748056 | ||||||
| chr3:99748134
|
C | A | 17 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+3113C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748134 | ||||||
| chr3:99748290
|
A | G | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+3269A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748290 | ||||||
| chr3:99748552
|
T | C | 1 | a0001c0001t0001g0183 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-4+3531T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748552 | ||||||
| chr3:99748575
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-4+3554A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748575 | ||||||
| chr3:99748764
|
A | G | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+3743A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748764 | ||||||
| chr3:99749003
|
T | C | 2 | a0001c0001t0017g0050a0001c0001t0017g0258 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-4+3982T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749003 | ||||||
| chr3:99749178
|
G | GT | 4 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0065others(1): Show | 4 | HG00639.hp2 HG01175.hp1 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+4158dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749178 | |||||
| chr3:99749255
|
T | G | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+4234T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749255 | ||||||
| chr3:99749263
|
A | AG | 12 | a0001c0001t0003g0150a0001c0001t0007g0025a0001c0001t0007g0045others(9): Show | 12 | HG01952.hp2 HG02257.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.-4+4244dupG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749263 | |||||
| chr3:99749360
|
T | TAAAATCA others(322): Show |
1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-4+4352_-4+4353ins others(329): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749360 | |||||
| chr3:99749390
|
G | A | 79 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+4369G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749390 | ||||||
| chr3:99749484
|
G | A | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+4463G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749484 | ||||||
| chr3:99749527
|
G | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0077 | 3 | NA19063.hp1 NA19074.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-4+4506G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749527 | ||||||
| chr3:99749580
|
C | T | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+4559C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749580 | ||||||
| chr3:99749822
|
A | C | 56 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(53): Show | 56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-4+4801A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749822 | ||||||
| chr3:99750049
|
C | CT | 80 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0033others(77): Show | 82 | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(79): Show |
intron_variant | MODIFIER | c.-4+5053dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | |||||
| chr3:99750049
|
C | CTT | 11 | a0001c0001t0001g0006a0001c0001t0001g0101a0001c0001t0001g0111others(8): Show | 11 | HG01978.hp2 HG02280.hp2 HG02738.hp1 others(8): Show |
intron_variant | MODIFIER | c.-4+5052_-4+5053dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | |||||
| chr3:99750049
|
CT | C | 64 | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0206others(61): Show | 64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-4+5053delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | |||||
| chr3:99750049
|
CTT | C | 6 | a0001c0001t0003g0172a0001c0001t0004g0121a0001c0001t0007g0255others(3): Show | 6 | HG01257.hp1 HG02523.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-4+5052_-4+5053del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | |||||
| chr3:99750083
|
T | G | 79 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(76): Show | 79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+5062T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750083 | ||||||
| chr3:99750100
|
C | T | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+5079C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750100 | ||||||
| chr3:99750192
|
A | G | 198 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(195): Show | 201 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(198): Show |
intron_variant | MODIFIER | c.-4+5171A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750192 | ||||||
| chr3:99750336
|
C | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-4+5315C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750336 | ||||||
| chr3:99750461
|
C | G | 1 | a0001c0001t0002g0168 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-4+5440C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750461 | ||||||
| chr3:99750542
|
C | T | 1 | a0001c0001t0003g0198 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-4+5521C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750542 | ||||||
| chr3:99750598
|
A | G | 1 | a0001c0001t0034g0193 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-4+5577A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750598 | ||||||
| chr3:99750618
|
A | C | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-4+5597A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750618 | ||||||
| chr3:99750772
|
G | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+5751G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750772 | ||||||
| chr3:99751107
|
T | A | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+6086T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751107 | ||||||
| chr3:99751221
|
C | G | 23 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(20): Show | 23 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.-4+6200C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751221 | ||||||
| chr3:99751329
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0034a0001c0001t0001g0043others(10): Show | 13 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.-4+6308G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751329 | ||||||
| chr3:99751401
|
T | C | 4 | a0001c0001t0004g0070a0001c0001t0004g0071a0001c0001t0004g0073others(1): Show | 4 | HG00735.hp2 HG01109.hp1 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+6380T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751401 | ||||||
| chr3:99751472
|
T | C | 1 | a0001c0001t0008g0139 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-4+6451T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751472 | ||||||
| chr3:99751498
|
G | T | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-4+6477G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751498 | ||||||
| chr3:99751503
|
A | G | 190 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(187): Show | 193 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(190): Show |
intron_variant | MODIFIER | c.-4+6482A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751503 | ||||||
| chr3:99751644
|
C | T | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-4+6623C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751644 | ||||||
| chr3:99752040
|
T | C | 2 | a0001c0001t0003g0088a0001c0001t0006g0129 | 2 | NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-4+7019T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752040 | ||||||
| chr3:99752105
|
T | C | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+7084T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752105 | ||||||
| chr3:99752325
|
G | T | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+7304G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752325 | ||||||
| chr3:99752342
|
A | G | 1 | a0001c0001t0001g0246 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-4+7321A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752342 | ||||||
| chr3:99752407
|
T | C | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-4+7386T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752407 | ||||||
| chr3:99752464
|
G | T | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-4+7443G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752464 | ||||||
| chr3:99752636
|
TCTC | T | 7 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(4): Show | 7 | HG00639.hp1 HG02280.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.-4+7618_-4+7620del others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99752636 | |||||
| chr3:99752646
|
A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-4+7625A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752646 | ||||||
| chr3:99752672
|
C | A | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+7651C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752672 | ||||||
| chr3:99752797
|
C | T | 17 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+7776C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752797 | ||||||
| chr3:99752871
|
C | T | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-4+7850C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752871 | ||||||
| chr3:99752973
|
T | C | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+7952T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752973 | ||||||
| chr3:99753024
|
A | G | 8 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(5): Show | 8 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.-4+8003A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753024 | ||||||
| chr3:99753048
|
T | G | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+8027T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753048 | ||||||
| chr3:99753051
|
G | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+8030G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753051 | ||||||
| chr3:99753289
|
A | C | 10 | a0001c0001t0001g0038a0001c0001t0001g0056a0001c0001t0001g0081others(7): Show | 10 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(7): Show |
intron_variant | MODIFIER | c.-4+8268A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753289 | ||||||
| chr3:99753564
|
A | T | 1 | a0001c0001t0006g0210 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-4+8543A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753564 | ||||||
| chr3:99753581
|
G | C | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+8560G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753581 | ||||||
| chr3:99753944
|
C | T | 1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-4+8923C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753944 | ||||||
| chr3:99754132
|
C | T | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+9111C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754132 | ||||||
| chr3:99754212
|
A | G | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+9191A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754212 | ||||||
| chr3:99754388
|
C | T | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+9367C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754388 | ||||||
| chr3:99754503
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+9482G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754503 | ||||||
| chr3:99754876
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+9855A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754876 | ||||||
| chr3:99754920
|
G | A | 1 | a0001c0001t0002g0164 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-4+9899G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754920 | ||||||
| chr3:99754928
|
C | T | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-4+9907C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754928 | ||||||
| chr3:99755006
|
C | G | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-4+9985C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755006 | ||||||
| chr3:99755483
|
C | T | 109 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(106): Show | 112 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(109): Show |
intron_variant | MODIFIER | c.-4+10462C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755483 | ||||||
| chr3:99755689
|
C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-4+10668C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755689 | ||||||
| chr3:99756018
|
C | G | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-4+10997C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756018 | ||||||
| chr3:99756080
|
A | G | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+11059A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756080 | ||||||
| chr3:99756203
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-4+11182G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756203 | ||||||
| chr3:99756424
|
C | T | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+11403C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756424 | ||||||
| chr3:99756445
|
T | C | 1 | a0001c0001t0002g0027 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+11424T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756445 | ||||||
| chr3:99756493
|
A | G | 1 | a0001c0001t0002g0027 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+11472A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756493 | ||||||
| chr3:99756610
|
G | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-4+11589G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756610 | ||||||
| chr3:99756622
|
T | A | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+11601T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756622 | ||||||
| chr3:99756655
|
T | G | 5 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230others(2): Show | 5 | HG02145.hp1 HG03041.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.-4+11634T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756655 | ||||||
| chr3:99756709
|
C | T | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-4+11688C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756709 | ||||||
| chr3:99756718
|
G | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+11697G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756718 | ||||||
| chr3:99756783
|
CACTT | C | 4 | a0001c0001t0004g0208a0001c0001t0021g0086a0001c0001t0037g0231others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-4+11763_-4+11766d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756783 | ||||||
| chr3:99757277
|
C | G | 216 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(213): Show | 219 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(216): Show |
intron_variant | MODIFIER | c.-4+12256C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757277 | ||||||
| chr3:99757366
|
T | C | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+12345T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757366 | ||||||
| chr3:99757451
|
C | T | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+12430C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757451 | ||||||
| chr3:99757491
|
A | G | 1 | a0001c0001t0030g0072 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-4+12470A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757491 | ||||||
| chr3:99757504
|
G | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-4+12483G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757504 | ||||||
| chr3:99757540
|
G | T | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+12519G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757540 | ||||||
| chr3:99757616
|
C | T | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+12595C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757616 | ||||||
| chr3:99757676
|
T | C | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-4+12655T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757676 | ||||||
| chr3:99757787
|
A | G | 4 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(1): Show | 4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+12766A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757787 | ||||||
| chr3:99758238
|
A | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+13217A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758238 | ||||||
| chr3:99758298
|
A | G | 198 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(195): Show | 201 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(198): Show |
intron_variant | MODIFIER | c.-4+13277A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758298 | ||||||
| chr3:99758338
|
C | T | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+13317C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758338 | ||||||
| chr3:99758434
|
T | G | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+13413T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758434 | ||||||
| chr3:99758715
|
C | T | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+13694C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758715 | ||||||
| chr3:99758813
|
A | G | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13792A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758813 | ||||||
| chr3:99758814
|
C | G | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13793C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758814 | ||||||
| chr3:99758815
|
C | T | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758815 | ||||||
| chr3:99758857
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+13836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758857 | ||||||
| chr3:99758978
|
G | T | 1 | a0001c0001t0001g0099 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.-4+13957G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758978 | ||||||
| chr3:99759106
|
C | CTTT | 9 | a0001c0001t0001g0117a0001c0001t0004g0208a0001c0001t0037g0231others(6): Show | 9 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.-4+14097_-4+14099d others(5): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99759106 | |||||
| chr3:99759106
|
C | CTTTT | 100 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(97): Show | 102 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.-4+14096_-4+14099d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99759106 | |||||
| chr3:99759323
|
G | A | 1 | a0001c0001t0025g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-4+14302G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759323 | ||||||
| chr3:99759362
|
C | T | 2 | a0001c0001t0018g0075a0001c0001t0018g0079 | 2 | HG00438.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.-4+14341C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759362 | ||||||
| chr3:99759371
|
T | C | 1 | a0001c0001t0014g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-4+14350T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759371 | ||||||
| chr3:99759458
|
C | T | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+14437C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759458 | ||||||
| chr3:99759569
|
T | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+14548T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759569 | ||||||
| chr3:99759890
|
G | A | 2 | a0001c0001t0013g0128a0001c0001t0033g0015 | 2 | HG04184.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-4+14869G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759890 | ||||||
| chr3:99759896
|
T | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+14875T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759896 | ||||||
| chr3:99760348
|
A | C | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-4+15327A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760348 | ||||||
| chr3:99760705
|
T | C | 54 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(51): Show | 54 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.-4+15684T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760705 | ||||||
| chr3:99760760
|
C | T | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-4+15739C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760760 | ||||||
| chr3:99761368
|
T | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-4+16347T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761368 | ||||||
| chr3:99761446
|
C | A | 2 | a0001c0001t0003g0185a0001c0001t0003g0200 | 2 | NA19054.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-4+16425C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761446 | ||||||
| chr3:99761517
|
T | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+16496T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761517 | ||||||
| chr3:99761706
|
ACT | A | 16 | a0001c0001t0003g0185a0001c0001t0003g0186a0001c0001t0003g0187others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-4+16690_-4+16691d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99761706 | |||||
| chr3:99761746
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+16725T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761746 | ||||||
| chr3:99761776
|
G | A | 2 | a0001c0001t0004g0073a0001c0001t0004g0074 | 2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.-4+16755G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761776 | ||||||
| chr3:99761811
|
T | C | 1 | a0001c0001t0013g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-4+16790T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761811 | ||||||
| chr3:99761853
|
A | G | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-4+16832A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761853 | ||||||
| chr3:99762499
|
G | A | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-4+17478G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762499 | ||||||
| chr3:99762507
|
A | T | 1 | a0001c0002t0031g0199 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-4+17486A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762507 | ||||||
| chr3:99762538
|
T | A | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-4+17517T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762538 | ||||||
| chr3:99762551
|
C | T | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+17530C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762551 | ||||||
| chr3:99762695
|
G | T | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+17674G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762695 | ||||||
| chr3:99762777
|
C | T | 44 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(41): Show | 44 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(41): Show |
intron_variant | MODIFIER | c.-4+17756C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762777 | ||||||
| chr3:99762855
|
G | A | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+17834G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762855 | ||||||
| chr3:99762874
|
C | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-4+17853C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762874 | ||||||
| chr3:99762986
|
C | G | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+17965C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762986 | ||||||
| chr3:99763025
|
A | G | 2 | a0001c0001t0014g0005a0001c0001t0014g0047 | 2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+18004A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763025 | ||||||
| chr3:99763068
|
A | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+18047A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763068 | ||||||
| chr3:99763100
|
T | C | 2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-4+18079T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763100 | ||||||
| chr3:99763102
|
T | C | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+18081T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763102 | ||||||
| chr3:99763193
|
A | G | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+18172A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763193 | ||||||
| chr3:99763274
|
A | T | 3 | a0001c0001t0002g0136a0001c0001t0002g0238a0001c0001t0002g0239 | 3 | HG02129.hp2 NA18969.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.-4+18253A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763274 | ||||||
| chr3:99763373
|
C | T | 2 | a0001c0001t0005g0224a0001c0001t0005g0233 | 2 | HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-4+18352C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763373 | ||||||
| chr3:99763414
|
C | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+18393C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763414 | ||||||
| chr3:99763470
|
G | C | 99 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(96): Show | 102 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.-4+18449G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763470 | ||||||
| chr3:99763533
|
C | T | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-4+18512C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763533 | ||||||
| chr3:99763567
|
G | T | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-4+18546G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763567 | ||||||
| chr3:99763819
|
C | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+18798C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763819 | ||||||
| chr3:99764427
|
T | A | 187 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(184): Show | 190 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(187): Show |
intron_variant | MODIFIER | c.-4+19406T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764427 | ||||||
| chr3:99764454
|
C | T | 2 | a0001c0001t0002g0131a0001c0001t0002g0132 | 2 | HG00280.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.-4+19433C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764454 | ||||||
| chr3:99764501
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+19480G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764501 | ||||||
| chr3:99764655
|
G | A | 4 | a0001c0001t0004g0208a0001c0001t0021g0086a0001c0001t0037g0231others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-4+19634G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764655 | ||||||
| chr3:99764683
|
C | T | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+19662C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764683 | ||||||
| chr3:99764701
|
C | CT | 69 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(66): Show | 70 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.-4+19696dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | |||||
| chr3:99764701
|
C | CTT | 177 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(174): Show | 180 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(177): Show |
intron_variant | MODIFIER | c.-4+19695_-4+19696d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | |||||
| chr3:99764701
|
C | CTTT | 9 | a0001c0001t0001g0137a0001c0001t0003g0152a0001c0001t0003g0188others(6): Show | 9 | HG01891.hp2 HG02257.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.-4+19694_-4+19696d others(5): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | |||||
| chr3:99764748
|
G | A | 15 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(12): Show | 15 | HG01257.hp1 HG01258.hp1 HG01934.hp1 others(12): Show |
intron_variant | MODIFIER | c.-4+19727G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764748 | ||||||
| chr3:99764929
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+19908A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764929 | ||||||
| chr3:99764935
|
C | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+19914C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764935 | ||||||
| chr3:99765491
|
A | G | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+20470A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99765491 | ||||||
| chr3:99765675
|
A | G | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-4+20654A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99765675 | ||||||
| chr3:99766036
|
G | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+21015G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766036 | ||||||
| chr3:99766232
|
C | T | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-4+21211C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766232 | ||||||
| chr3:99766950
|
G | C | 7 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(4): Show | 7 | HG00735.hp1 HG01516.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.-4+21929G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766950 | ||||||
| chr3:99766950
|
G | GA | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-4+21941dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99766950 | |||||
| chr3:99766951
|
A | C | 1 | a0001c0001t0001g0217 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-4+21930A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766951 | ||||||
| chr3:99766963
|
T | A | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+21942T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766963 | ||||||
| chr3:99766982
|
G | A | 1 | a0001c0001t0002g0167 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-4+21961G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766982 | ||||||
| chr3:99767194
|
A | G | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+22173A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767194 | ||||||
| chr3:99767231
|
A | T | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-4+22210A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767231 | ||||||
| chr3:99767291
|
G | A | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+22270G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767291 | ||||||
| chr3:99767776
|
G | T | 1 | a0001c0001t0006g0221 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-4+22755G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767776 | ||||||
| chr3:99767923
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-22757G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767923 | ||||||
| chr3:99767960
|
G | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-3-22720G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767960 | ||||||
| chr3:99767985
|
C | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-22695C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767985 | ||||||
| chr3:99768030
|
T | C | 1 | a0001c0001t0004g0074 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-3-22650T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768030 | ||||||
| chr3:99768053
|
T | C | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-3-22627T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768053 | ||||||
| chr3:99768310
|
T | C | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-3-22370T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768310 | ||||||
| chr3:99768500
|
G | C | 7 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0004g0093others(4): Show | 7 | HG02683.hp1 HG04184.hp1 HG04204.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-22180G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768500 | ||||||
| chr3:99768531
|
T | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-22149T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768531 | ||||||
| chr3:99768746
|
C | G | 1 | a0001c0001t0002g0238 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-3-21934C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768746 | ||||||
| chr3:99768814
|
T | C | 27 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(24): Show | 27 | HG00558.hp1 HG00639.hp2 HG01168.hp1 others(24): Show |
intron_variant | MODIFIER | c.-3-21866T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768814 | ||||||
| chr3:99769086
|
A | G | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-3-21594A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769086 | ||||||
| chr3:99769108
|
T | C | 3 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230 | 3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-3-21572T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769108 | ||||||
| chr3:99769154
|
C | A | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-3-21526C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769154 | ||||||
| chr3:99769295
|
C | T | 20 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-3-21385C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769295 | ||||||
| chr3:99769296
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-21384G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769296 | ||||||
| chr3:99769388
|
T | C | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-3-21292T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769388 | ||||||
| chr3:99769473
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0077a0001c0001t0001g0252 | 4 | HG04184.hp2 NA19063.hp1 NA19074.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-21207G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769473 | ||||||
| chr3:99769520
|
G | A | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-3-21160G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769520 | ||||||
| chr3:99769664
|
T | C | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-3-21016T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769664 | ||||||
| chr3:99769753
|
T | C | 17 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-3-20927T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769753 | ||||||
| chr3:99769898
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-20782A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769898 | ||||||
| chr3:99770364
|
A | C | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-20316A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770364 | ||||||
| chr3:99770397
|
C | T | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-20283C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770397 | ||||||
| chr3:99770553
|
T | G | 72 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(69): Show | 75 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.-3-20127T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770553 | ||||||
| chr3:99770592
|
G | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-20088G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770592 | ||||||
| chr3:99770772
|
G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-3-19908G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770772 | ||||||
| chr3:99770921
|
C | A | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-19759C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770921 | ||||||
| chr3:99770981
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-19699A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770981 | ||||||
| chr3:99771378
|
T | G | 3 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0006g0129 | 3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-3-19302T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771378 | ||||||
| chr3:99771542
|
G | A | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-3-19138G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771542 | ||||||
| chr3:99771574
|
C | T | 2 | a0001c0001t0001g0031a0001c0001t0001g0206 | 2 | HG00735.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-3-19106C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771574 | ||||||
| chr3:99771735
|
T | C | 1 | a0001c0001t0005g0019 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-3-18945T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771735 | ||||||
| chr3:99771792
|
C | A | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-18888C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771792 | ||||||
| chr3:99771838
|
G | A | 1 | a0001c0001t0002g0126 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-3-18842G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771838 | ||||||
| chr3:99772031
|
C | G | 18 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(15): Show | 18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-18649C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772031 | ||||||
| chr3:99772121
|
T | C | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-18559T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772121 | ||||||
| chr3:99772141
|
T | C | 4 | a0001c0001t0005g0067a0001c0001t0005g0090a0001c0001t0005g0091others(1): Show | 4 | HG00741.hp1 HG01256.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-18539T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772141 | ||||||
| chr3:99772147
|
C | T | 4 | a0001c0001t0004g0208a0001c0001t0021g0086a0001c0001t0037g0231others(1): Show | 4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-18533C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772147 | ||||||
| chr3:99772554
|
T | C | 18 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(15): Show | 18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-18126T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772554 | ||||||
| chr3:99772653
|
C | A | 54 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(51): Show | 54 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.-3-18027C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772653 | ||||||
| chr3:99772664
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-18016A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772664 | ||||||
| chr3:99772907
|
G | A | 11 | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0002g0136others(8): Show | 11 | HG00280.hp1 HG02027.hp2 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.-3-17773G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772907 | ||||||
| chr3:99773013
|
G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-3-17667G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773013 | ||||||
| chr3:99773207
|
T | C | 3 | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0215 | 3 | HG03654.hp2 HG03704.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-3-17473T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773207 | ||||||
| chr3:99773208
|
A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-3-17472A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773208 | ||||||
| chr3:99773249
|
T | C | 18 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(15): Show | 18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-17431T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773249 | ||||||
| chr3:99773335
|
C | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-3-17345C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773335 | ||||||
| chr3:99773412
|
C | T | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-17268C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773412 | ||||||
| chr3:99773539
|
C | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-17141C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773539 | ||||||
| chr3:99773602
|
A | G | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-3-17078A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773602 | ||||||
| chr3:99773690
|
G | T | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-3-16990G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773690 | ||||||
| chr3:99773815
|
G | GTA | 3 | a0001c0001t0002g0163a0001c0001t0002g0164a0001c0001t0018g0079 | 3 | HG00438.hp1 NA18943.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.-3-16843_-3-16842d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(18): Show |
25 | a0001c0001t0001g0009a0001c0001t0001g0053a0001c0001t0001g0054others(22): Show | 26 | HG00140.hp2 HG01109.hp2 HG01175.hp2 others(23): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(20): Show |
6 | a0001c0001t0001g0004a0001c0001t0001g0100a0001c0001t0001g0120others(3): Show | 7 | HG00544.hp1 HG00558.hp2 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(22): Show |
2 | a0001c0001t0001g0048a0001c0001t0001g0051 | 2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(22): Show |
3 | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0007t0001g0082 | 3 | HG02602.hp1 HG03669.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(20): Show |
12 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0038others(9): Show | 12 | HG00280.hp2 HG00639.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(24): Show |
1 | a0001c0001t0028g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(33): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(26): Show |
1 | a0001c0001t0001g0060 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(35): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTATATAT others(43): Show |
1 | a0001c0001t0011g0257 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(52): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTGTATAT others(9): Show |
1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16864_-3-16863i others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773815
|
G | GTGTATAT others(18): Show |
2 | a0001c0001t0001g0081a0001c0001t0001g0118 | 2 | HG02698.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-3-16864_-3-16863i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | |||||
| chr3:99773817
|
A | ATATATAT others(16): Show |
2 | a0001c0001t0001g0034a0001c0001t0001g0178 | 2 | HG02922.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773817 | |||||
| chr3:99773817
|
A | G | 5 | a0001c0001t0012g0141a0001c0001t0012g0142a0001c0001t0012g0159others(2): Show | 5 | HG01074.hp2 HG02083.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-16863A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773817 | ||||||
| chr3:99773819
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773819 | |||||
| chr3:99773821
|
A | ATATATAT others(6): Show |
5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-16858_-3-16846d others(15): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773821 | |||||
| chr3:99773835
|
A | AT | 14 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(11): Show | 14 | HG01257.hp1 HG01258.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.-3-16844dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | |||||
| chr3:99773835
|
A | ATTATATA others(11): Show |
1 | a0001c0001t0001g0223 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | |||||
| chr3:99773835
|
A | ATTATATA others(12): Show |
1 | a0001c0001t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | |||||
| chr3:99773835
|
A | ATTATATA others(13): Show |
1 | a0001c0001t0001g0230 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | |||||
| chr3:99773835
|
A | T | 2 | a0001c0001t0017g0050a0001c0001t0017g0258 | 2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-3-16845A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773835 | ||||||
| chr3:99773836
|
TA | T | 6 | a0001c0001t0001g0031a0001c0001t0001g0206a0001c0001t0001g0216others(3): Show | 6 | HG00735.hp1 HG02886.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-3-16843delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773836 | ||||||
| chr3:99773837
|
A | AT | 11 | a0001c0001t0002g0160a0001c0001t0002g0250a0001c0001t0003g0186others(8): Show | 11 | HG00544.hp2 HG01934.hp1 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.-3-16818dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(12): Show |
1 | a0001c0001t0004g0076 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0004g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(21): Show |
1 | a0001c0001t0004g0121 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(19): Show |
1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(13): Show |
2 | a0001c0001t0004g0070a0001c0001t0004g0204 | 2 | HG01109.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0014g0047 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(11): Show |
2 | a0001c0001t0004g0012a0001c0001t0004g0074 | 2 | HG00735.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(12): Show |
1 | a0001c0001t0004g0071 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(13): Show |
1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0012g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(16): Show |
1 | a0001c0001t0012g0142 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(10): Show |
1 | a0001c0001t0014g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(19): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(11): Show |
1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(13): Show |
1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(16): Show |
1 | a0001c0001t0012g0141 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(8): Show |
1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(6): Show |
1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(15): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATAT others(23): Show |
1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATTA others(21): Show |
1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATTA others(22): Show |
1 | a0001c0001t0001g0114 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATATTA others(22): Show |
2 | a0001c0001t0016g0020a0001c0001t0016g0021 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(19): Show |
3 | a0001c0001t0001g0023a0001c0001t0001g0117a0001c0001t0001g0237 | 3 | HG03831.hp1 NA18953.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(21): Show |
3 | a0001c0001t0001g0065a0001c0001t0001g0085a0001c0001t0001g0161 | 3 | HG01175.hp1 HG02145.hp2 NA18953.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(22): Show |
1 | a0001c0001t0032g0017 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(23): Show |
1 | a0001c0001t0001g0016 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(20): Show |
1 | a0001c0001t0001g0030 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(21): Show |
1 | a0001c0001t0001g0165 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(22): Show |
1 | a0001c0001t0001g0029 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(18): Show |
2 | a0001c0001t0001g0107a0001c0001t0001g0174 | 2 | HG01069.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(42): Show |
1 | a0001c0001t0009g0013 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(51): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(41): Show |
1 | a0001c0001t0009g0022 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(50): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(19): Show |
1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(17): Show |
1 | a0001c0001t0001g0108 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATATTATA others(18): Show |
1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATT | 7 | a0001c0001t0003g0150a0001c0001t0003g0188a0001c0001t0003g0192others(4): Show | 7 | HG00597.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-16819_-3-16818d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATTATATA others(17): Show |
1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATTATATA others(43): Show |
1 | a0001c0001t0011g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(52): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | ATTATATA others(14): Show |
1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773837
|
A | T | 32 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230others(29): Show | 32 | HG01257.hp1 HG01258.hp1 HG01952.hp2 others(29): Show |
intron_variant | MODIFIER | c.-3-16843A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773837 | ||||||
| chr3:99773837
|
AT | A | 14 | a0001c0001t0001g0122a0001c0001t0001g0184a0001c0001t0001g0209others(11): Show | 14 | HG00323.hp1 HG00323.hp2 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.-3-16818delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | |||||
| chr3:99773838
|
T | TA | 3 | a0001c0001t0001g0055a0001c0001t0002g0177a0001c0001t0003g0187 | 3 | HG02027.hp1 HG03492.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATAATAT others(17): Show |
2 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATATATA others(8): Show |
1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATATTAT others(19): Show |
1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATATTAT others(21): Show |
1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATTATAT others(17): Show |
6 | a0001c0001t0001g0044a0001c0001t0001g0101a0001c0001t0001g0102others(3): Show | 6 | HG01169.hp2 HG02080.hp1 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATTATAT others(19): Show |
6 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0068others(3): Show | 7 | HG00558.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TATTATAT others(40): Show |
1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(49): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | ||||||
| chr3:99773838
|
T | TTATATAT others(17): Show |
1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773838 | |||||
| chr3:99773839
|
T | A | 26 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0143others(23): Show | 26 | HG00438.hp1 HG00438.hp2 HG00738.hp2 others(23): Show |
intron_variant | MODIFIER | c.-3-16841T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773839 | ||||||
| chr3:99773839
|
T | TATATATA others(16): Show |
1 | a0001c0001t0001g0008 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773839 | ||||||
| chr3:99773840
|
T | A | 7 | a0001c0001t0001g0122a0001c0001t0001g0175a0001c0001t0001g0184others(4): Show | 7 | HG00323.hp1 HG01516.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3-16840T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773840 | ||||||
| chr3:99773841
|
T | A | 5 | a0001c0001t0002g0132a0001c0001t0005g0014a0001c0001t0005g0024others(2): Show | 5 | HG00597.hp2 HG01346.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.-3-16839T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773841 | ||||||
| chr3:99773842
|
T | A | 2 | a0001c0001t0001g0184a0001c0003t0029g0011 | 2 | HG00323.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.-3-16838T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773842 | ||||||
| chr3:99773843
|
T | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16837T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773843 | ||||||
| chr3:99773844
|
T | A | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16836T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773844 | ||||||
| chr3:99773845
|
T | A | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16835T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773845 | ||||||
| chr3:99773846
|
T | A | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16834T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773846 | ||||||
| chr3:99773868
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-16812C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773868 | ||||||
| chr3:99773989
|
C | T | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16691C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773989 | ||||||
| chr3:99774025
|
A | T | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-3-16655A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774025 | ||||||
| chr3:99774129
|
G | A | 3 | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0215 | 3 | HG03654.hp2 HG03704.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-3-16551G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774129 | ||||||
| chr3:99774152
|
C | T | 2 | a0001c0001t0016g0020a0001c0001t0016g0021 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-16528C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774152 | ||||||
| chr3:99774215
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-16465C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774215 | ||||||
| chr3:99774321
|
A | C | 113 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(110): Show | 116 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.-3-16359A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774321 | ||||||
| chr3:99774375
|
G | T | 18 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(15): Show | 18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-16305G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774375 | ||||||
| chr3:99774380
|
G | C | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-16300G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774380 | ||||||
| chr3:99774389
|
G | A | 4 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(1): Show | 4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-16291G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774389 | ||||||
| chr3:99774574
|
T | A | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-16106T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774574 | ||||||
| chr3:99774786
|
G | A | 8 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(5): Show | 8 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.-3-15894G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774786 | ||||||
| chr3:99774846
|
GAATT | G | 44 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(41): Show | 44 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(41): Show |
intron_variant | MODIFIER | c.-3-15826_-3-15823d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99774846 | |||||
| chr3:99774964
|
C | G | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-3-15716C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774964 | ||||||
| chr3:99775050
|
T | G | 1 | a0001c0001t0033g0015 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-3-15630T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775050 | ||||||
| chr3:99775239
|
G | A | 1 | a0001c0001t0026g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-3-15441G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775239 | ||||||
| chr3:99775244
|
A | C | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-3-15436A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775244 | ||||||
| chr3:99775361
|
T | C | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-15319T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775361 | ||||||
| chr3:99775371
|
G | A | 18 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0014others(15): Show | 18 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(15): Show |
intron_variant | MODIFIER | c.-3-15309G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775371 | ||||||
| chr3:99775386
|
C | A | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-3-15294C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775386 | ||||||
| chr3:99775434
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-3-15246G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775434 | ||||||
| chr3:99775777
|
G | A | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-3-14903G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775777 | ||||||
| chr3:99775813
|
A | G | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-14867A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775813 | ||||||
| chr3:99775878
|
T | C | 8 | a0001c0001t0003g0133a0001c0001t0003g0152a0001c0001t0003g0172others(5): Show | 8 | HG01257.hp1 HG01258.hp1 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.-3-14802T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775878 | ||||||
| chr3:99776069
|
A | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-14611A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776069 | ||||||
| chr3:99776073
|
C | T | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-14607C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776073 | ||||||
| chr3:99776160
|
T | C | 1 | a0001c0001t0003g0185 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-3-14520T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776160 | ||||||
| chr3:99776271
|
G | A | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-14409G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776271 | ||||||
| chr3:99776495
|
G | A | 1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-3-14185G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776495 | ||||||
| chr3:99776578
|
A | C | 167 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(164): Show | 170 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.-3-14102A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776578 | ||||||
| chr3:99776686
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-3-13994A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776686 | ||||||
| chr3:99776723
|
T | C | 216 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(213): Show | 219 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(216): Show |
intron_variant | MODIFIER | c.-3-13957T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776723 | ||||||
| chr3:99776753
|
A | G | 21 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(18): Show | 21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-13927A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776753 | ||||||
| chr3:99776828
|
C | A | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-13852C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776828 | ||||||
| chr3:99777078
|
C | G | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-3-13602C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777078 | ||||||
| chr3:99777113
|
T | C | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-13567T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777113 | ||||||
| chr3:99777146
|
G | A | 1 | a0001c0001t0001g0183 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-3-13534G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777146 | ||||||
| chr3:99777507
|
G | T | 75 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(72): Show | 75 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.-3-13173G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777507 | ||||||
| chr3:99777750
|
A | C | 2 | a0001c0001t0001g0096a0001c0001t0001g0108 | 2 | NA18612.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.-3-12930A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777750 | ||||||
| chr3:99777758
|
A | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-3-12922A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777758 | ||||||
| chr3:99777765
|
C | G | 2 | a0001c0001t0001g0048a0001c0001t0001g0051 | 2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-3-12915C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777765 | ||||||
| chr3:99777839
|
G | T | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-12841G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777839 | ||||||
| chr3:99778086
|
G | A | 2 | a0001c0001t0016g0020a0001c0001t0016g0021 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-12594G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778086 | ||||||
| chr3:99778130
|
C | T | 3 | a0001c0001t0008g0139a0001c0001t0008g0151a0001c0001t0008g0256 | 3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-3-12550C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778130 | ||||||
| chr3:99778163
|
C | T | 1 | a0001c0001t0001g0174 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-3-12517C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778163 | ||||||
| chr3:99778264
|
G | T | 195 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(192): Show | 198 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(195): Show |
intron_variant | MODIFIER | c.-3-12416G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778264 | ||||||
| chr3:99778274
|
G | A | 4 | a0001c0001t0001g0038a0001c0001t0001g0103a0001c0001t0001g0104others(1): Show | 4 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-12406G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778274 | ||||||
| chr3:99778304
|
C | T | 187 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(184): Show | 190 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(187): Show |
intron_variant | MODIFIER | c.-3-12376C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778304 | ||||||
| chr3:99778384
|
A | C | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-12296A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778384 | ||||||
| chr3:99778616
|
T | TA | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-12053dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99778616 | |||||
| chr3:99778616
|
TA | T | 43 | a0001c0001t0001g0038a0001c0001t0001g0053a0001c0001t0002g0010others(40): Show | 43 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(40): Show |
intron_variant | MODIFIER | c.-3-12053delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99778616 | |||||
| chr3:99778775
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-11905G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778775 | ||||||
| chr3:99778869
|
C | G | 187 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(184): Show | 190 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(187): Show |
intron_variant | MODIFIER | c.-3-11811C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778869 | ||||||
| chr3:99778894
|
T | A | 15 | a0001c0001t0004g0012a0001c0001t0004g0070a0001c0001t0004g0071others(12): Show | 15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-11786T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778894 | ||||||
| chr3:99779135
|
G | A | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-3-11545G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779135 | ||||||
| chr3:99779179
|
G | C | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-3-11501G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779179 | ||||||
| chr3:99779288
|
G | C | 3 | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0001g0234 | 3 | HG01891.hp1 HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-3-11392G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779288 | ||||||
| chr3:99779589
|
G | A | 21 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(18): Show | 21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-11091G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779589 | ||||||
| chr3:99779610
|
T | C | 4 | a0001c0001t0004g0012a0001c0001t0004g0076a0001c0001t0004g0121others(1): Show | 4 | HG02129.hp1 NA18942.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-11070T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779610 | ||||||
| chr3:99779639
|
G | A | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-11041G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779639 | ||||||
| chr3:99779765
|
T | C | 21 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(18): Show | 21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-10915T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779765 | ||||||
| chr3:99779769
|
A | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-10911A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779769 | ||||||
| chr3:99779810
|
G | GT | 23 | a0001c0001t0003g0149a0001c0001t0003g0212a0001c0001t0004g0012others(20): Show | 23 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.-3-10870_-3-10869i others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779810 | ||||||
| chr3:99779838
|
T | C | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-10842T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779838 | ||||||
| chr3:99780033
|
C | T | 7 | a0001c0001t0001g0036a0001c0001t0001g0098a0001c0001t0001g0099others(4): Show | 7 | HG01978.hp2 HG02148.hp1 NA18964.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-10647C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780033 | ||||||
| chr3:99780041
|
C | G | 53 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(50): Show | 53 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.-3-10639C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780041 | ||||||
| chr3:99780312
|
A | G | 3 | a0001c0001t0004g0012a0001c0001t0004g0076a0001c0001t0004g0204 | 3 | HG02129.hp1 NA18942.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.-3-10368A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780312 | ||||||
| chr3:99780373
|
T | C | 56 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(53): Show | 56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-3-10307T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780373 | ||||||
| chr3:99780400
|
C | T | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-10280C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780400 | ||||||
| chr3:99780436
|
C | A | 2 | a0001c0001t0004g0208a0001c0001t0037g0231 | 2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-10244C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780436 | ||||||
| chr3:99780617
|
C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-3-10063C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780617 | ||||||
| chr3:99780742
|
A | G | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-9938A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780742 | ||||||
| chr3:99780804
|
A | G | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-3-9876A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780804 | ||||||
| chr3:99780838
|
C | T | 1 | a0001c0001t0001g0145 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-3-9842C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780838 | ||||||
| chr3:99780892
|
T | C | 218 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(215): Show | 221 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(218): Show |
intron_variant | MODIFIER | c.-3-9788T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780892 | ||||||
| chr3:99780907
|
T | C | 1 | a0001c0001t0011g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-3-9773T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780907 | ||||||
| chr3:99781268
|
A | C | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-3-9412A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781268 | ||||||
| chr3:99781291
|
T | C | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-3-9389T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781291 | ||||||
| chr3:99781498
|
G | T | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-9182G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781498 | ||||||
| chr3:99781576
|
C | T | 3 | a0001c0001t0008g0046a0001c0001t0023g0037a0001c0001t0026g0156 | 3 | HG02280.hp1 HG03139.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-3-9104C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781576 | ||||||
| chr3:99781603
|
G | A | 16 | a0001c0001t0003g0185a0001c0001t0003g0186a0001c0001t0003g0187others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-3-9077G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781603 | ||||||
| chr3:99781679
|
G | A | 1 | a0001c0001t0001g0110 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-3-9001G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781679 | ||||||
| chr3:99781864
|
G | A | 41 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(38): Show | 41 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(38): Show |
intron_variant | MODIFIER | c.-3-8816G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781864 | ||||||
| chr3:99781904
|
T | C | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-8776T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781904 | ||||||
| chr3:99782186
|
T | C | 1 | a0001c0001t0005g0066 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-3-8494T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782186 | ||||||
| chr3:99782246
|
G | A | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-8434G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782246 | ||||||
| chr3:99782252
|
T | C | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-3-8428T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782252 | ||||||
| chr3:99782543
|
C | T | 1 | a0001c0001t0001g0099 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.-3-8137C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782543 | ||||||
| chr3:99782635
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-8045G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782635 | ||||||
| chr3:99782695
|
G | T | 117 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(114): Show | 120 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.-3-7985G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782695 | ||||||
| chr3:99782709
|
A | T | 1 | a0001c0001t0006g0229 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-3-7971A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782709 | ||||||
| chr3:99782937
|
C | CT | 189 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(186): Show | 192 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.-3-7738dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99782937 | |||||
| chr3:99783111
|
T | C | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-7569T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783111 | ||||||
| chr3:99783130
|
A | G | 2 | a0001c0001t0004g0157a0001c0001t0004g0253 | 2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-7550A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783130 | ||||||
| chr3:99783189
|
T | C | 1 | a0001c0001t0006g0228 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-3-7491T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783189 | ||||||
| chr3:99783557
|
C | T | 2 | a0001c0001t0001g0023a0001c0001t0001g0030 | 2 | HG02132.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-3-7123C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783557 | ||||||
| chr3:99783736
|
G | A | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-6944G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783736 | ||||||
| chr3:99783886
|
C | T | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-6794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783886 | ||||||
| chr3:99784382
|
T | C | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-6298T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784382 | ||||||
| chr3:99784435
|
C | G | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-3-6245C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784435 | ||||||
| chr3:99784515
|
T | A | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-3-6165T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784515 | ||||||
| chr3:99784522
|
A | G | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-3-6158A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784522 | ||||||
| chr3:99784884
|
A | G | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-3-5796A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784884 | ||||||
| chr3:99784996
|
T | G | 6 | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0230others(3): Show | 6 | HG02145.hp1 HG02895.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-3-5684T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784996 | ||||||
| chr3:99784997
|
G | A | 3 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-3-5683G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784997 | ||||||
| chr3:99785585
|
T | C | 1 | a0001c0001t0025g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-3-5095T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99785585 | ||||||
| chr3:99785745
|
G | A | 1 | a0001c0001t0012g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-3-4935G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99785745 | ||||||
| chr3:99786025
|
T | TGAAATGA others(312): Show |
2 | a0001c0001t0014g0005a0001c0001t0014g0047 | 2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-4645_-3-4644ins others(319): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786025 | |||||
| chr3:99786025
|
T | TGAAATGA others(313): Show |
1 | a0001c0001t0014g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-3-4645_-3-4644ins others(320): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786025 | |||||
| chr3:99786036
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-3-4644T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786036 | ||||||
| chr3:99786359
|
C | T | 55 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(52): Show | 58 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.-3-4321C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786359 | ||||||
| chr3:99786460
|
G | C | 5 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-4220G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786460 | ||||||
| chr3:99786545
|
C | T | 1 | a0001c0001t0018g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-3-4135C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786545 | ||||||
| chr3:99786591
|
T | A | 20 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(17): Show | 20 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.-3-4089T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786591 | ||||||
| chr3:99786762
|
AGTGTTCA others(4): Show |
A | 4 | a0001c0001t0002g0250a0001c0001t0021g0086a0001c0001t0037g0231others(1): Show | 4 | HG01891.hp2 HG02083.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-3904_-3-3894del others(11): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786762 | |||||
| chr3:99786766
|
T | C | 125 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(122): Show | 128 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.-3-3914T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786766 | ||||||
| chr3:99787007
|
T | C | 9 | a0001c0001t0007g0025a0001c0001t0007g0045a0001c0001t0007g0155others(6): Show | 9 | HG01952.hp2 HG02257.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.-3-3673T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787007 | ||||||
| chr3:99787211
|
T | C | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-3469T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787211 | ||||||
| chr3:99787857
|
T | TACAC | 168 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(165): Show | 171 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.-3-2808_-3-2805dup others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787857 | |||||
| chr3:99787857
|
T | TACACAC | 52 | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(49): Show | 52 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.-3-2810_-3-2805dup others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787857 | |||||
| chr3:99787872
|
A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2808A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787872 | ||||||
| chr3:99787874
|
A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2806A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787874 | ||||||
| chr3:99787874
|
ACC | A | 4 | a0001c0001t0011g0052a0001c0001t0014g0005a0001c0001t0014g0047others(1): Show | 4 | HG02809.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-2804_-3-2803del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787874 | |||||
| chr3:99787876
|
C | A | 3 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0022g0182 | 3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-3-2804C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787876 | ||||||
| chr3:99787878
|
A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2802A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787878 | ||||||
| chr3:99787888
|
A | C | 1 | a0001c0001t0011g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-3-2792A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787888 | ||||||
| chr3:99787959
|
C | T | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-2721C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787959 | ||||||
| chr3:99788054
|
T | C | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-2626T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788054 | ||||||
| chr3:99788268
|
G | T | 1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-3-2412G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788268 | ||||||
| chr3:99788410
|
T | C | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-3-2270T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788410 | ||||||
| chr3:99788444
|
A | G | 2 | a0001c0001t0021g0086a0001c0003t0029g0011 | 2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-2236A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788444 | ||||||
| chr3:99788696
|
G | A | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1984G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788696 | ||||||
| chr3:99789090
|
G | A | 196 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(193): Show | 199 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.-3-1590G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789090 | ||||||
| chr3:99789155
|
C | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-1525C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789155 | ||||||
| chr3:99789195
|
G | T | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1485G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789195 | ||||||
| chr3:99789390
|
C | T | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-1290C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789390 | ||||||
| chr3:99789484
|
A | G | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1196A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789484 | ||||||
| chr3:99789845
|
C | G | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-835C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789845 | ||||||
| chr3:99789846
|
T | G | 1 | a0001c0003t0029g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-834T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789846 | ||||||
| chr3:99789922
|
A | G | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-758A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789922 | ||||||
| chr3:99789924
|
T | C | 197 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(194): Show | 200 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(197): Show |
intron_variant | MODIFIER | c.-3-756T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789924 | ||||||
| chr3:99789993
|
T | C | 1 | a0001c0001t0018g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-3-687T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789993 | ||||||
| chr3:99790377
|
A | G | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-3-303A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790377 | ||||||
| chr3:99790525
|
T | C | 1 | a0001c0001t0037g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-155T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790525 | ||||||
| chr3:99790530
|
A | AG | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-149dupG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99790530 | |||||
| chr3:99790597
|
T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-83T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790597 | ||||||
| chr3:99791265
|
T | C | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.328+255T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791265 | ||||||
| chr3:99791464
|
G | A | 1 | a0001c0001t0001g0102 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.328+454G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791464 | ||||||
| chr3:99791745
|
C | T | 16 | a0001c0001t0003g0185a0001c0001t0003g0186a0001c0001t0003g0187others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.328+735C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791745 | ||||||
| chr3:99792072
|
G | A | 257 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(254): Show | 261 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
intron_variant | MODIFIER | c.328+1062G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792072 | ||||||
| chr3:99792104
|
G | A | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.328+1094G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792104 | ||||||
| chr3:99792188
|
G | A | 8 | a0001c0001t0005g0066a0001c0001t0005g0067a0001c0001t0005g0080others(5): Show | 8 | HG00738.hp2 HG00741.hp1 HG01256.hp1 others(5): Show |
intron_variant | MODIFIER | c.328+1178G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792188 | ||||||
| chr3:99792213
|
A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.328+1203A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792213 | ||||||
| chr3:99792579
|
T | C | 1 | a0001c0002t0031g0199 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.328+1569T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792579 | ||||||
| chr3:99792667
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.329-1563C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792667 | ||||||
| chr3:99792903
|
T | C | 1 | a0001c0003t0036g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.329-1327T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792903 | ||||||
| chr3:99793125
|
C | T | 4 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205others(1): Show | 4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.329-1105C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793125 | ||||||
| chr3:99793166
|
G | A | 3 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.329-1064G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793166 | ||||||
| chr3:99793203
|
T | C | 1 | a0001c0001t0002g0132 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.329-1027T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793203 | ||||||
| chr3:99793317
|
T | C | 2 | a0001c0001t0009g0013a0001c0001t0009g0022 | 2 | NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.329-913T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793317 | ||||||
| chr3:99793345
|
C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.329-885C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793345 | ||||||
| chr3:99793405
|
A | T | 19 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(16): Show | 19 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.329-825A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793405 | ||||||
| chr3:99793436
|
T | TAC | 28 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(25): Show | 28 | HG00558.hp1 HG00639.hp2 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.329-772_329-771dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | 99793436 | |||||
| chr3:99793436
|
TAC | T | 71 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0122others(68): Show | 71 | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(68): Show |
intron_variant | MODIFIER | c.329-772_329-771del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | 99793436 | |||||
| chr3:99793764
|
C | T | 197 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(194): Show | 200 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(197): Show |
intron_variant | MODIFIER | c.329-466C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793764 | ||||||
| chr3:99793821
|
A | G | 197 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(194): Show | 200 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(197): Show |
intron_variant | MODIFIER | c.329-409A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793821 | ||||||
| chr3:99793844
|
T | C | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(212): Show | 218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.329-386T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793844 | ||||||
| chr3:99793865
|
C | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.329-365C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793865 | ||||||
| chr3:99793905
|
C | G | 1 | a0001c0001t0005g0125 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.329-325C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793905 | ||||||
| chr3:99793943
|
G | A | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.329-287G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793943 | ||||||
| chr3:99793969
|
C | G | 1 | a0001c0001t0021g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.329-261C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793969 | ||||||
| chr3:99794153
|
A | C | 2 | a0001c0001t0003g0149a0001c0001t0003g0212 | 2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.329-77A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99794153 |