| geneid | 1290 |
|---|---|
| ensemblid | ENSG00000204262.14 |
| hgncid | 2210 |
| symbol | COL5A2 |
| name | collagen type V alpha 2 chain |
| refseq_nuc | NM_000393.5 |
| refseq_prot | NP_000384.2 |
| ensembl_nuc | ENST00000374866.9 |
| ensembl_prot | ENSP00000364000.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 189031898 |
| end | 189179761 |
| strand | - |
| ver | v1.2 |
| region | chr2:189031898-189179761 |
| region5000 | chr2:189026898-189184761 |
| regionname0 | COL5A2_chr2_189031898_189179761 |
| regionname5000 | COL5A2_chr2_189026898_189184761 |
| 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 | 1499 | 228 | 64 | 31 | 93 | 9 | 29 | 73 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0002 | 0/0 | 1499 | 3 | 0 | 1 | 1 | 0 | 1 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0003 | 0/0 | 1499 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0004 | 0/0 | 1499 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0005 | 0/0 | 1499 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0006 | 0/0 | 1499 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0007 | 0/0 | 1499 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0008 | 0/0 | 1499 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0009 | 0/0 | 1499 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0010 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0011 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0012 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0013 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0014 | 0/0 | 1499 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0015 | 0/0 | 1499 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 4500 | 136 | 47 | 16 | 47 | 7 | 18 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0002 | 0/0 | 4500 | 29 | 5 | 2 | 15 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0003 | 1/0 | 4500 | 25 | 4 | 10 | 10 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0004 | 0/0 | 4500 | 17 | 3 | 1 | 7 | 0 | 6 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0005 | 0/0 | 4500 | 4 | 0 | 0 | 4 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0006 | 0/0 | 4500 | 3 | 0 | 1 | 1 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0007 | 0/0 | 4500 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0008 | 0/0 | 4500 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0009 | 0/0 | 4500 | 2 | 0 | 1 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0010 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0011 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0012 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0013 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0014 | 0/0 | 4500 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0015 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0016 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0017 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0018 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0019 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0020 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0021 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0022 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0023 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0024 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0025 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0026 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0027 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0028 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0029 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| c0030 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 2330 | 148 | 40 | 24 | 55 | 7 | 20 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0002 | 0/0 | 2330 | 28 | 0 | 2 | 19 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0003 | 0/0 | 2330 | 26 | 7 | 4 | 14 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0004 | 0/0 | 2330 | 8 | 5 | 1 | 0 | 1 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0005 | 0/0 | 2331 | 5 | 0 | 1 | 4 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0006 | 0/0 | 2330 | 3 | 2 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0007 | 0/0 | 2331 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0008 | 0/0 | 2330 | 3 | 1 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0009 | 0/0 | 2330 | 3 | 3 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0010 | 0/0 | 2328 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0011 | 0/0 | 2330 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0012 | 0/0 | 2330 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0013 | 0/0 | 2330 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0014 | 0/0 | 2328 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0015 | 0/0 | 2328 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0016 | 0/0 | 2330 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0017 | 0/0 | 2331 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0018 | 0/0 | 2330 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0019 | 0/0 | 2330 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0020 | 0/0 | 2330 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0021 | 0/0 | 2330 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0022 | 0/0 | 2330 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0023 | 0/0 | 2330 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0024 | 0/0 | 2330 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| t0025 | 0/0 | 2330 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| 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 | 4 | 4 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0002 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0026 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0097 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0154 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 4500 | 136 | 47 | 16 | 47 | 7 | 18 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0002 | 0/0 | 4500 | 29 | 5 | 2 | 15 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0003 | 1/0 | 4500 | 25 | 4 | 10 | 10 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004 | 0/0 | 4500 | 17 | 3 | 1 | 7 | 0 | 6 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0005 | 0/0 | 4500 | 4 | 0 | 0 | 4 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0007 | 0/0 | 4500 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0008 | 0/0 | 4500 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0010 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0012 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0019 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0021 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0025 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0026 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0027 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0028 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0030 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0002c0006 | 0/0 | 4500 | 3 | 0 | 1 | 1 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0003c0014 | 0/0 | 4500 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0004c0013 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0005c0011 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0006c0009 | 0/0 | 4500 | 2 | 0 | 1 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0007c0015 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0008c0029 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0009c0016 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0010c0024 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0011c0023 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0012c0018 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0013c0017 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0014c0020 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0015c0022 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 6829 | 94 | 32 | 11 | 31 | 6 | 13 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0003 | 0/0 | 6829 | 26 | 7 | 4 | 14 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0004 | 0/0 | 6829 | 6 | 3 | 1 | 0 | 1 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0008 | 0/0 | 6829 | 3 | 1 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0013 | 0/0 | 6829 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0022 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0023 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0024 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0001t0025 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0002t0002 | 0/0 | 6829 | 23 | 0 | 2 | 14 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0002t0009 | 0/0 | 6829 | 3 | 3 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0002t0014 | 0/0 | 6827 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0002t0020 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0003t0001 | 1/0 | 6829 | 23 | 4 | 8 | 10 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0003t0011 | 0/0 | 6829 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004t0001 | 0/0 | 6829 | 13 | 1 | 1 | 6 | 0 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004t0006 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004t0018 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0004t0021 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0005t0002 | 0/0 | 6829 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0005t0019 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0007t0005 | 0/0 | 6830 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0008t0001 | 0/0 | 6829 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0010t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0010t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0012t0010 | 0/0 | 6827 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0019t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0021t0002 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0025t0001 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0026t0015 | 0/0 | 6827 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0027t0001 | 0/0 | 6829 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0028t0012 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0001c0030t0016 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0002c0006t0005 | 0/0 | 6830 | 2 | 0 | 1 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0002c0006t0017 | 0/0 | 6830 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0003c0014t0001 | 0/0 | 6829 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0004c0013t0001 | 0/0 | 6829 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0005c0011t0001 | 0/0 | 6829 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0006c0009t0001 | 0/0 | 6829 | 2 | 0 | 1 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0007c0015t0001 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0008c0029t0001 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0009c0016t0006 | 0/0 | 6829 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0010c0024t0004 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0011c0023t0004 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0012c0018t0012 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0013c0017t0006 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0014c0020t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| a0015c0022t0002 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | copy fasta | chr2 | 189026898 | 189184761 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0026 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0003g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0004g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0007g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0008g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0008g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0008g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0013g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0013g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0022g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0023g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0024g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0001t0025g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0002g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0009g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0009g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0009g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0014g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0014g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0002t0020g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0154 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0011g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0003t0011g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0002 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0006g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0007g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0018g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0004t0021g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0005t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0005t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0005t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0005t0019g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0007t0005g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0007t0005g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0007t0005g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0008t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0008t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0008t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0010t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0010t0007g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0012t0010g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0012t0010g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0019t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0021t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0025t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0026t0015g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0027t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0028t0012g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0001c0030t0016g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0002c0006t0005g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0002c0006t0005g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0002c0006t0017g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0003c0014t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0003c0014t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0004c0013t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0004c0013t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0005c0011t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0005c0011t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0006c0009t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0006c0009t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0007c0015t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0008c0029t0001g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0009c0016t0006g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0010c0024t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0011c0023t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0012c0018t0012g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0013c0017t0006g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0014c0020t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| a0015c0022t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0018 | EUR | GBR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0099 | EUR | GBR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00280 | hp1 | a0001 | c0001 | t0004 | g0149 | EUR | FIN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0097 | EUR | FIN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00408 | hp1 | a0001 | c0001 | t0003 | g0227 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00408 | hp2 | a0014 | c0020 | t0001 | g0123 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00423 | hp2 | a0001 | c0005 | t0019 | g0173 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00597 | hp1 | a0001 | c0002 | t0002 | g0036 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00609 | hp2 | a0001 | c0005 | t0002 | g0174 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01069 | hp1 | a0001 | c0026 | t0015 | g0003 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01081 | hp1 | a0003 | c0014 | t0001 | g0039 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01081 | hp2 | a0009 | c0016 | t0006 | g0130 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01106 | hp1 | a0001 | c0003 | t0011 | g0169 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01106 | hp2 | a0001 | c0002 | t0002 | g0016 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0048 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01167 | hp2 | a0001 | c0003 | t0001 | g0234 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01169 | hp1 | a0003 | c0014 | t0001 | g0120 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01169 | hp2 | a0001 | c0003 | t0001 | g0199 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01192 | hp2 | a0002 | c0006 | t0005 | g0131 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01255 | hp1 | a0001 | c0003 | t0001 | g0150 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01257 | hp1 | a0001 | c0001 | t0003 | g0128 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01257 | hp2 | a0001 | c0003 | t0001 | g0196 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01258 | hp2 | a0001 | c0001 | t0003 | g0127 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01261 | hp1 | a0001 | c0003 | t0001 | g0198 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0068 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01358 | hp1 | a0001 | c0003 | t0011 | g0168 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0103 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01433 | hp1 | a0001 | c0004 | t0001 | g0219 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01433 | hp2 | a0006 | c0009 | t0001 | g0027 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01516 | hp1 | a0001 | c0002 | t0002 | g0037 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0085 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01517 | hp1 | a0001 | c0002 | t0002 | g0029 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0107 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0157 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01884 | hp2 | a0001 | c0004 | t0018 | g0129 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01943 | hp1 | a0001 | c0003 | t0001 | g0208 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01943 | hp2 | a0001 | c0001 | t0003 | g0045 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01975 | hp1 | a0001 | c0001 | t0004 | g0221 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01978 | hp1 | a0001 | c0001 | t0003 | g0135 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0046 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01981 | hp1 | a0001 | c0003 | t0001 | g0203 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02055 | hp2 | a0001 | c0003 | t0001 | g0223 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02056 | hp1 | a0001 | c0004 | t0001 | g0176 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02074 | hp1 | a0001 | c0001 | t0007 | g0057 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02074 | hp2 | a0001 | c0004 | t0001 | g0177 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02135 | hp1 | a0001 | c0001 | t0003 | g0231 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0055 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02165 | hp1 | a0001 | c0001 | t0003 | g0178 | EAS | CDX | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0094 | EAS | CDX | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0070 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02258 | hp2 | a0011 | c0023 | t0004 | g0117 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0044 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02273 | hp2 | a0001 | c0003 | t0001 | g0197 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02280 | hp2 | a0001 | c0001 | t0003 | g0166 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02293 | hp1 | a0001 | c0002 | t0002 | g0052 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02293 | hp2 | a0001 | c0027 | t0001 | g0195 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02451 | hp1 | a0001 | c0003 | t0001 | g0189 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02451 | hp2 | a0010 | c0024 | t0004 | g0065 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02630 | hp1 | a0001 | c0001 | t0004 | g0005 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02630 | hp2 | a0012 | c0018 | t0012 | g0148 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02683 | hp2 | a0008 | c0029 | t0001 | g0235 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02717 | hp1 | a0004 | c0013 | t0001 | g0113 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02717 | hp2 | a0001 | c0003 | t0001 | g0191 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0192 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02735 | hp1 | a0001 | c0001 | t0004 | g0193 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0049 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02809 | hp2 | a0001 | c0001 | t0004 | g0043 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02818 | hp1 | a0001 | c0028 | t0012 | g0151 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0062 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02895 | hp1 | a0001 | c0012 | t0010 | g0040 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0156 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02897 | hp1 | a0001 | c0012 | t0010 | g0126 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0081 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02965 | hp1 | a0004 | c0013 | t0001 | g0114 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02965 | hp2 | a0001 | c0001 | t0003 | g0185 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03041 | hp1 | a0001 | c0004 | t0001 | g0056 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03041 | hp2 | a0001 | c0025 | t0001 | g0125 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03098 | hp2 | a0001 | c0001 | t0003 | g0224 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03139 | hp1 | a0001 | c0001 | t0013 | g0013 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03139 | hp2 | a0001 | c0001 | t0025 | g0243 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03195 | hp1 | a0001 | c0002 | t0009 | g0143 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03225 | hp1 | a0001 | c0001 | t0003 | g0226 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03225 | hp2 | a0001 | c0004 | t0006 | g0153 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03453 | hp2 | a0001 | c0003 | t0001 | g0190 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03486 | hp2 | a0001 | c0001 | t0024 | g0241 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03490 | hp1 | a0001 | c0004 | t0001 | g0002 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0041 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03492 | hp2 | a0001 | c0004 | t0001 | g0002 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03516 | hp1 | a0001 | c0002 | t0009 | g0162 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0187 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03540 | hp1 | a0001 | c0002 | t0009 | g0161 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0028 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0105 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03669 | hp2 | a0001 | c0004 | t0021 | g0134 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03688 | hp1 | a0001 | c0002 | t0002 | g0238 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03704 | hp1 | a0001 | c0002 | t0002 | g0237 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0053 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03710 | hp1 | a0001 | c0004 | t0001 | g0165 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03710 | hp2 | a0001 | c0002 | t0002 | g0025 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03831 | hp1 | a0001 | c0001 | t0008 | g0240 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0058 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03834 | hp1 | a0001 | c0002 | t0002 | g0092 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03942 | hp1 | a0001 | c0004 | t0001 | g0160 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG03942 | hp2 | a0001 | c0001 | t0022 | g0086 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04199 | hp1 | a0002 | c0006 | t0017 | g0136 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04199 | hp2 | a0007 | c0015 | t0001 | g0108 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04204 | hp1 | a0001 | c0004 | t0001 | g0170 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0032 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04228 | hp1 | a0001 | c0001 | t0003 | g0186 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0047 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18522 | hp1 | a0001 | c0001 | t0008 | g0220 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18522 | hp2 | a0001 | c0002 | t0014 | g0244 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18612 | hp2 | a0015 | c0022 | t0002 | g0035 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18747 | hp1 | a0001 | c0010 | t0001 | g0101 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18747 | hp2 | a0001 | c0002 | t0002 | g0033 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0158 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18940 | hp1 | a0001 | c0010 | t0007 | g0075 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18940 | hp2 | a0001 | c0003 | t0001 | g0175 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18941 | hp1 | a0001 | c0004 | t0001 | g0212 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18942 | hp1 | a0001 | c0001 | t0003 | g0211 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18942 | hp2 | a0001 | c0002 | t0002 | g0140 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18945 | hp1 | a0001 | c0001 | t0003 | g0179 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18945 | hp2 | a0001 | c0019 | t0001 | g0072 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18947 | hp2 | a0001 | c0005 | t0002 | g0172 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18950 | hp1 | a0001 | c0002 | t0002 | g0060 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18950 | hp2 | a0001 | c0001 | t0003 | g0182 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18951 | hp1 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0222 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18953 | hp2 | a0001 | c0003 | t0001 | g0207 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18960 | hp1 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18960 | hp2 | a0001 | c0008 | t0001 | g0214 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18961 | hp2 | a0001 | c0004 | t0007 | g0216 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18962 | hp2 | a0001 | c0001 | t0003 | g0210 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18965 | hp1 | a0001 | c0005 | t0002 | g0229 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18965 | hp2 | a0001 | c0002 | t0002 | g0020 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18972 | hp1 | a0001 | c0004 | t0001 | g0171 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18973 | hp1 | a0001 | c0001 | t0003 | g0180 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18975 | hp1 | a0001 | c0003 | t0001 | g0206 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18975 | hp2 | a0005 | c0011 | t0001 | g0077 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18977 | hp1 | a0001 | c0007 | t0005 | g0006 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18977 | hp2 | a0001 | c0004 | t0001 | g0218 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18978 | hp2 | a0001 | c0003 | t0001 | g0164 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18979 | hp1 | a0001 | c0002 | t0002 | g0031 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18983 | hp1 | a0001 | c0002 | t0002 | g0022 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18983 | hp2 | a0001 | c0003 | t0001 | g0204 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18984 | hp1 | a0001 | c0002 | t0002 | g0138 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18984 | hp2 | a0001 | c0003 | t0001 | g0205 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18992 | hp2 | a0001 | c0002 | t0002 | g0059 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18995 | hp1 | a0001 | c0003 | t0001 | g0194 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18995 | hp2 | a0001 | c0001 | t0003 | g0228 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18998 | hp1 | a0001 | c0003 | t0001 | g0201 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19001 | hp2 | a0001 | c0001 | t0003 | g0232 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0181 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19003 | hp2 | a0001 | c0004 | t0001 | g0217 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19006 | hp1 | a0001 | c0007 | t0005 | g0008 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19007 | hp1 | a0001 | c0002 | t0002 | g0141 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19007 | hp2 | a0001 | c0007 | t0005 | g0007 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19010 | hp2 | a0001 | c0008 | t0001 | g0213 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0144 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19030 | hp2 | a0001 | c0030 | t0016 | g0017 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19043 | hp1 | a0001 | c0001 | t0013 | g0145 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19057 | hp1 | a0001 | c0002 | t0002 | g0024 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19062 | hp1 | a0001 | c0008 | t0001 | g0215 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19062 | hp2 | a0001 | c0021 | t0002 | g0142 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19065 | hp1 | a0002 | c0006 | t0005 | g0132 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19065 | hp2 | a0001 | c0003 | t0001 | g0202 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19070 | hp1 | a0001 | c0002 | t0002 | g0139 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19070 | hp2 | a0001 | c0003 | t0001 | g0200 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19076 | hp1 | a0005 | c0011 | t0001 | g0080 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19076 | hp2 | a0001 | c0001 | t0003 | g0184 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19084 | hp2 | a0001 | c0002 | t0002 | g0023 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19088 | hp2 | a0001 | c0001 | t0023 | g0009 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19091 | hp2 | a0001 | c0002 | t0020 | g0038 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19240 | hp1 | a0001 | c0001 | t0003 | g0152 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | ASW | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0015 | EUR | TSI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20752 | hp2 | a0006 | c0009 | t0001 | g0019 | EUR | TSI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20905 | hp1 | a0001 | c0001 | t0008 | g0236 | SAS | GIH | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0104 | SAS | GIH | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02109 | hp1 | a0001 | c0001 | t0003 | g0225 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0066 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG02486 | hp2 | a0001 | c0002 | t0014 | g0242 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | USA | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0239 | AFR | USA | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA21309 | hp1 | a0001 | c0001 | t0003 | g0167 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| NA21309 | hp2 | a0013 | c0017 | t0006 | g0034 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0026 | REF | REF | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| homoSapiens_grch38 | hp1 | a0001 | c0003 | t0001 | g0154 | REF | REF | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189039341
|
C | T | 1 | a0013 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.3856G>A | p.Asp1286Asn | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 4013/6829 | 3856/4500 | 1286/1499 | chr2 | 189039341 | ||
| chr2:189039371
|
T | C | 1 | a0012 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.3826A>G | p.Ser1276Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3983/6829 | 3826/4500 | 1276/1499 | chr2 | 189039371 | ||
| chr2:189039508
|
G | C | 1 | a0006 | 2 | HG01433.hp2 NA20752.hp2 |
missense_variant | MODERATE | c.3689C>G | p.Thr1230Arg | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3846/6829 | 3689/4500 | 1230/1499 | chr2 | 189039508 | ||
| chr2:189043156
|
G | A | 1 | a0014 | 1 | HG00408.hp2 | missense_variant | MODERATE | c.3466C>T | p.Pro1156Ser | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/54 | 3623/6829 | 3466/4500 | 1156/1499 | chr2 | 189043156 | ||
| chr2:189045226
|
G | A | 1 | a0010 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.3316C>T | p.Arg1106Trp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/54 | 3473/6829 | 3316/4500 | 1106/1499 | chr2 | 189045226 | ||
| chr2:189049396
|
G | A | 1 | a0005 | 2 | NA18975.hp2 NA19076.hp1 |
missense_variant | MODERATE | c.3098C>T | p.Pro1033Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/54 | 3255/6829 | 3098/4500 | 1033/1499 | chr2 | 189049396 | ||
| chr2:189049403
|
G | A | 1 | a0015 | 1 | NA18612.hp2 | missense_variant | MODERATE | c.3091C>T | p.Pro1031Ser | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/54 | 3248/6829 | 3091/4500 | 1031/1499 | chr2 | 189049403 | ||
| chr2:189050645
|
G | A | 1 | a0011 | 1 | HG02258.hp2 | missense_variant | MODERATE | c.2963C>T | p.Thr988Met | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/54 | 3120/6829 | 2963/4500 | 988/1499 | chr2 | 189050645 | ||
| chr2:189053896
|
G | A | 1 | a0002 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
missense_variant&splice_region_variant | MODERATE | c.2498C>T | p.Pro833Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/54 | 2655/6829 | 2498/4500 | 833/1499 | chr2 | 189053896 | ||
| chr2:189057394
|
T | G | 1 | a0010 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.2263A>C | p.Thr755Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/54 | 2420/6829 | 2263/4500 | 755/1499 | chr2 | 189057394 | ||
| chr2:189066418
|
A | G | 2 | a0002a0009 | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
missense_variant | MODERATE | c.1535T>C | p.Val512Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/54 | 1692/6829 | 1535/4500 | 512/1499 | chr2 | 189066418 | ||
| chr2:189068016
|
G | A | 1 | a0004 | 2 | HG02717.hp1 HG02965.hp1 |
missense_variant&splice_region_variant | MODERATE | c.1400C>T | p.Pro467Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1557/6829 | 1400/4500 | 467/1499 | chr2 | 189068016 | ||
| chr2:189068065
|
A | G | 1 | a0008 | 1 | HG02683.hp2 | missense_variant | MODERATE | c.1351T>C | p.Ser451Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1508/6829 | 1351/4500 | 451/1499 | chr2 | 189068065 | ||
| chr2:189068227
|
G | A | 1 | a0007 | 1 | HG04199.hp2 | missense_variant&splice_region_variant | MODERATE | c.1301C>T | p.Thr434Met | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 20/54 | 1458/6829 | 1301/4500 | 434/1499 | chr2 | 189068227 | ||
| chr2:189075416
|
T | G | 1 | a0003 | 2 | HG01081.hp1 HG01169.hp1 |
missense_variant | MODERATE | c.1081A>C | p.Met361Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/54 | 1238/6829 | 1081/4500 | 361/1499 | chr2 | 189075416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189034121
|
G | A | 2 | a0001c0007a0002c0006 | 6 | HG01192.hp2 HG04199.hp1 NA18977.hp1 others(3): Show |
synonymous_variant | LOW | c.4449C>T | p.Gly1483Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 4606/6829 | 4449/4500 | 1483/1499 | chr2 | 189034121 | ||
| chr2:189039477
|
A | G | 6 | a0001c0002a0001c0005a0001c0012others(3): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
synonymous_variant | LOW | c.3720T>C | p.Tyr1240Tyr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3877/6829 | 3720/4500 | 1240/1499 | chr2 | 189039477 | ||
| chr2:189039507
|
T | G | 7 | a0001c0002a0001c0005a0001c0012others(4): Show | 39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
synonymous_variant | LOW | c.3690A>C | p.Thr1230Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3847/6829 | 3690/4500 | 1230/1499 | chr2 | 189039507 | ||
| chr2:189043211
|
A | G | 26 | a0001c0001a0001c0002a0001c0004others(23): Show | 219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
synonymous_variant | LOW | c.3411T>C | p.Gly1137Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/54 | 3568/6829 | 3411/4500 | 1137/1499 | chr2 | 189043211 | ||
| chr2:189045821
|
A | G | 1 | a0001c0027 | 1 | HG02293.hp2 | synonymous_variant | LOW | c.3288T>C | p.Asp1096Asp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/54 | 3445/6829 | 3288/4500 | 1096/1499 | chr2 | 189045821 | ||
| chr2:189050620
|
G | A | 1 | a0001c0008 | 3 | NA18960.hp2 NA19010.hp2 NA19062.hp1 |
synonymous_variant | LOW | c.2988C>T | p.Gly996Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/54 | 3145/6829 | 2988/4500 | 996/1499 | chr2 | 189050620 | ||
| chr2:189051464
|
C | T | 1 | a0001c0012 | 2 | HG02895.hp1 HG02897.hp1 |
synonymous_variant | LOW | c.2787G>A | p.Ala929Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/54 | 2944/6829 | 2787/4500 | 929/1499 | chr2 | 189051464 | ||
| chr2:189056988
|
T | G | 1 | a0001c0012 | 2 | HG02895.hp1 HG02897.hp1 |
synonymous_variant | LOW | c.2376A>C | p.Gly792Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/54 | 2533/6829 | 2376/4500 | 792/1499 | chr2 | 189056988 | ||
| chr2:189066429
|
G | A | 1 | a0001c0025 | 1 | HG03041.hp2 | synonymous_variant | LOW | c.1524C>T | p.Asp508Asp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/54 | 1681/6829 | 1524/4500 | 508/1499 | chr2 | 189066429 | ||
| chr2:189068105
|
T | C | 27 | a0001c0001a0001c0002a0001c0004others(24): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
synonymous_variant | LOW | c.1311A>G | p.Pro437Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1468/6829 | 1311/4500 | 437/1499 | chr2 | 189068105 | ||
| chr2:189078540
|
C | G | 1 | a0001c0005 | 4 | HG00423.hp2 HG00609.hp2 NA18947.hp2 others(1): Show |
synonymous_variant | LOW | c.1035G>C | p.Gly345Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/54 | 1192/6829 | 1035/4500 | 345/1499 | chr2 | 189078540 | ||
| chr2:189079093
|
G | A | 1 | a0001c0026 | 1 | HG01069.hp1 | synonymous_variant | LOW | c.975C>T | p.Pro325Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/54 | 1132/6829 | 975/4500 | 325/1499 | chr2 | 189079093 | ||
| chr2:189110232
|
G | T | 24 | a0001c0001a0001c0002a0001c0005others(21): Show | 200 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
synonymous_variant | LOW | c.315C>A | p.Thr105Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 472/6829 | 315/4500 | 105/1499 | chr2 | 189110232 | ||
| chr2:189110286
|
C | T | 1 | a0007c0015 | 1 | HG04199.hp2 | synonymous_variant | LOW | c.261G>A | p.Thr87Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 418/6829 | 261/4500 | 87/1499 | chr2 | 189110286 | ||
| chr2:189110298
|
G | A | 1 | a0001c0030 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.249C>T | p.Ala83Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 406/6829 | 249/4500 | 83/1499 | chr2 | 189110298 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189031939
|
A | T | 3 | a0001c0001t0004a0010c0024t0004a0011c0023t0004 | 8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2131T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2131 | chr2 | 189031939 | |||||
| chr2:189031941
|
T | A | 1 | a0001c0001t0022 | 1 | HG03942.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2129A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2129 | chr2 | 189031941 | |||||
| chr2:189032008
|
C | T | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2062G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2062 | chr2 | 189032008 | |||||
| chr2:189032110
|
T | C | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1960A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1960 | chr2 | 189032110 | |||||
| chr2:189032166
|
G | A | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1904C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1904 | chr2 | 189032166 | |||||
| chr2:189032218
|
A | G | 2 | a0001c0001t0008a0001c0001t0025 | 4 | HG03139.hp2 HG03831.hp1 NA18522.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1852T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1852 | chr2 | 189032218 | |||||
| chr2:189032323
|
G | T | 1 | a0001c0002t0020 | 1 | NA19091.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1747C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1747 | chr2 | 189032323 | |||||
| chr2:189032401
|
C | T | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1669G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1669 | chr2 | 189032401 | |||||
| chr2:189032459
|
T | C | 1 | a0001c0001t0023 | 1 | NA19088.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1611A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1611 | chr2 | 189032459 | |||||
| chr2:189032504
|
C | A | 1 | a0002c0006t0017 | 1 | HG04199.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1566G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1566 | chr2 | 189032504 | |||||
| chr2:189032533
|
A | G | 1 | a0001c0005t0019 | 1 | HG00423.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1537T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1537 | chr2 | 189032533 | |||||
| chr2:189032653
|
T | G | 1 | a0001c0004t0018 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1417A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1417 | chr2 | 189032653 | |||||
| chr2:189032668
|
A | C | 10 | a0001c0002t0002a0001c0002t0009a0001c0002t0014others(7): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*1402T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1402 | chr2 | 189032668 | |||||
| chr2:189032670
|
T | C | 3 | a0001c0007t0005a0002c0006t0005a0002c0006t0017 | 6 | HG01192.hp2 HG04199.hp1 NA18977.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1400A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1400 | chr2 | 189032670 | |||||
| chr2:189032691
|
T | C | 2 | a0001c0028t0012a0012c0018t0012 | 2 | HG02630.hp2 HG02818.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1379A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1379 | chr2 | 189032691 | |||||
| chr2:189032772
|
C | A | 1 | a0001c0012t0010 | 2 | HG02895.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1298G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1298 | chr2 | 189032772 | |||||
| chr2:189032778
|
T | C | 1 | a0001c0001t0024 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1292A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1292 | chr2 | 189032778 | |||||
| chr2:189032905
|
C | T | 4 | a0001c0001t0003a0001c0001t0008a0001c0001t0024others(1): Show | 31 | HG00408.hp1 HG01257.hp1 HG01258.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*1165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1165 | chr2 | 189032905 | |||||
| chr2:189032994
|
C | T | 1 | a0001c0003t0011 | 2 | HG01106.hp1 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1076G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1076 | chr2 | 189032994 | |||||
| chr2:189033258
|
T | C | 1 | a0001c0001t0024 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*812A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 812 | chr2 | 189033258 | |||||
| chr2:189033431
|
C | T | 11 | a0001c0001t0004a0001c0004t0006a0001c0004t0018others(8): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*639G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 639 | chr2 | 189033431 | |||||
| chr2:189033479
|
G | GT | 6 | a0001c0001t0007a0001c0004t0007a0001c0007t0005others(3): Show | 9 | HG01192.hp2 HG02074.hp1 HG04199.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*590dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 590 | chr2 | 189033479 | |||||
| chr2:189033479
|
GTT | G | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*589_*590delAA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 589 | chr2 | 189033479 | |||||
| chr2:189033509
|
A | G | 1 | a0001c0004t0021 | 1 | HG03669.hp2 | 3_prime_UTR_variant | MODIFIER | c.*561T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 561 | chr2 | 189033509 | |||||
| chr2:189033545
|
T | C | 1 | a0001c0002t0009 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*525A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 525 | chr2 | 189033545 | |||||
| chr2:189033555
|
G | A | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*515C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 515 | chr2 | 189033555 | |||||
| chr2:189033594
|
A | G | 1 | a0001c0030t0016 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*476T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 476 | chr2 | 189033594 | |||||
| chr2:189033647
|
G | A | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*423C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 423 | chr2 | 189033647 | |||||
| chr2:189033666
|
T | C | 1 | a0001c0012t0010 | 2 | HG02895.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 404 | chr2 | 189033666 | |||||
| chr2:189033678
|
A | G | 6 | a0001c0002t0002a0001c0002t0020a0001c0005t0002others(3): Show | 30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*392T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 392 | chr2 | 189033678 | |||||
| chr2:189033679
|
T | C | 1 | a0001c0001t0013 | 2 | HG03139.hp1 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*391A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 391 | chr2 | 189033679 | |||||
| chr2:189033772
|
C | T | 14 | a0001c0001t0004a0001c0002t0014a0001c0004t0006others(11): Show | 24 | HG00280.hp1 HG01069.hp1 HG01081.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*298G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 298 | chr2 | 189033772 | |||||
| chr2:189034024
|
G | T | 3 | a0001c0002t0014a0001c0012t0010a0001c0026t0015 | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*46C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 46 | chr2 | 189034024 | |||||
| chr2:189179638
|
G | A | 2 | a0001c0001t0025a0001c0002t0014 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
5_prime_UTR_variant | MODIFIER | c.-34C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/54 | 34 | chr2 | 189179638 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189034353
|
A | G | 9 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008others(6): Show | 9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.4354-137T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034353 | ||||||
| chr2:189034391
|
C | G | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-175G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034391 | ||||||
| chr2:189034516
|
T | A | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-300A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034516 | ||||||
| chr2:189034547
|
GACTT | G | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-335_4354-332d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034547 | ||||||
| chr2:189034612
|
G | A | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4353+304C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034612 | ||||||
| chr2:189034706
|
C | A | 2 | a0006c0009t0001g0019a0006c0009t0001g0027 | 2 | HG01433.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.4353+210G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034706 | ||||||
| chr2:189034815
|
T | C | 169 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 172 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.4353+101A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034815 | ||||||
| chr2:189034846
|
T | C | 169 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 172 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.4353+70A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034846 | ||||||
| chr2:189034847
|
G | A | 7 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0002t0014g0242others(4): Show | 7 | HG01069.hp1 HG01884.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.4353+69C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034847 | ||||||
| chr2:189035367
|
C | T | 101 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.4114-212G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035367 | ||||||
| chr2:189035475
|
TATAATAA others(20): Show |
T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4114-347_4114-321d others(29): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035475 | ||||||
| chr2:189035567
|
T | C | 19 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(16): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4114-412A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035567 | ||||||
| chr2:189035575
|
A | AAAAT | 39 | a0001c0001t0001g0066a0001c0002t0002g0016a0001c0002t0002g0020others(36): Show | 39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
intron_variant | MODIFIER | c.4114-424_4114-421d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035575 | ||||||
| chr2:189035798
|
C | T | 19 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(16): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4114-643G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035798 | ||||||
| chr2:189035857
|
A | G | 2 | a0001c0028t0012g0151a0012c0018t0012g0148 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.4114-702T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035857 | ||||||
| chr2:189035896
|
C | A | 3 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0026t0015g0003 | 3 | HG01069.hp1 HG02486.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.4113+720G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035896 | ||||||
| chr2:189036215
|
G | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.4113+401C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036215 | ||||||
| chr2:189036334
|
C | T | 102 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(99): Show | 102 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.4113+282G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036334 | ||||||
| chr2:189036393
|
C | A | 57 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(54): Show | 57 | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.4113+223G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036393 | ||||||
| chr2:189036525
|
TA | T | 19 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(16): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4113+90delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036525 | ||||||
| chr2:189036569
|
G | A | 101 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.4113+47C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036569 | ||||||
| chr2:189036942
|
A | G | 4 | a0001c0001t0001g0066a0001c0002t0014g0242a0001c0002t0014g0244others(1): Show | 4 | HG01069.hp1 HG02486.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3926-139T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189036942 | ||||||
| chr2:189036952
|
G | A | 4 | a0001c0001t0003g0152a0001c0001t0003g0224a0001c0001t0003g0225others(1): Show | 4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.3926-149C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189036952 | ||||||
| chr2:189037019
|
A | C | 39 | a0001c0001t0001g0066a0001c0002t0002g0016a0001c0002t0002g0020others(36): Show | 39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
intron_variant | MODIFIER | c.3926-216T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037019 | ||||||
| chr2:189037027
|
A | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3926-224T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037027 | ||||||
| chr2:189037101
|
T | C | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3926-298A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037101 | ||||||
| chr2:189037109
|
G | A | 1 | a0001c0007t0005g0007 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.3926-306C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037109 | ||||||
| chr2:189037306
|
C | T | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3926-503G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037306 | ||||||
| chr2:189037464
|
G | A | 78 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(75): Show | 78 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.3926-661C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037464 | ||||||
| chr2:189037691
|
T | A | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.3926-888A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037691 | ||||||
| chr2:189037953
|
G | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3926-1150C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037953 | ||||||
| chr2:189038136
|
T | TA | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+1135dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038136 | ||||||
| chr2:189038386
|
G | A | 22 | a0001c0001t0003g0045a0001c0001t0003g0127a0001c0001t0003g0128others(19): Show | 22 | HG00408.hp1 HG01257.hp1 HG01258.hp2 others(19): Show |
intron_variant | MODIFIER | c.3925+886C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038386 | ||||||
| chr2:189038537
|
G | C | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+735C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038537 | ||||||
| chr2:189038635
|
C | T | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+637G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038635 | ||||||
| chr2:189038689
|
T | C | 103 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.3925+583A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038689 | ||||||
| chr2:189038690
|
C | CTGT | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+579_3925+581d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038690 | ||||||
| chr2:189038736
|
C | T | 17 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(14): Show | 17 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.3925+536G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038736 | ||||||
| chr2:189038742
|
G | C | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+530C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038742 | ||||||
| chr2:189038817
|
GTAGCTGG others(3): Show |
G | 1 | a0001c0019t0001g0072 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.3925+445_3925+454d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038817 | ||||||
| chr2:189038836
|
C | G | 19 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(16): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.3925+436G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038836 | ||||||
| chr2:189038993
|
T | C | 17 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(14): Show | 17 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.3925+279A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038993 | ||||||
| chr2:189039033
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3925+239A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189039033 | ||||||
| chr2:189039235
|
C | A | 9 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008others(6): Show | 9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.3925+37G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189039235 | ||||||
| chr2:189039672
|
A | G | 1 | a0001c0001t0023g0009 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.3634-109T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039672 | ||||||
| chr2:189039687
|
C | T | 30 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(27): Show | 30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.3634-124G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039687 | ||||||
| chr2:189039776
|
A | T | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-213T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039776 | ||||||
| chr2:189039881
|
T | C | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3634-318A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039881 | ||||||
| chr2:189039886
|
A | G | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-323T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039886 | ||||||
| chr2:189039948
|
T | C | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-385A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039948 | ||||||
| chr2:189039963
|
C | T | 4 | a0001c0004t0001g0171a0001c0004t0001g0176a0001c0004t0001g0212others(1): Show | 4 | HG02056.hp1 NA18941.hp1 NA18972.hp1 others(1): Show |
intron_variant | MODIFIER | c.3634-400G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039963 | ||||||
| chr2:189039993
|
T | C | 2 | a0001c0028t0012g0151a0012c0018t0012g0148 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.3634-430A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039993 | ||||||
| chr2:189040186
|
C | T | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3634-623G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040186 | ||||||
| chr2:189040322
|
A | G | 243 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(240): Show | 247 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show |
intron_variant | MODIFIER | c.3634-759T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040322 | ||||||
| chr2:189040333
|
G | C | 33 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(30): Show | 33 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(30): Show |
intron_variant | MODIFIER | c.3634-770C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040333 | ||||||
| chr2:189040335
|
C | CT | 121 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0014others(118): Show | 122 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.3634-773dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | ||||||
| chr2:189040335
|
C | CTT | 7 | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0230others(4): Show | 7 | HG02145.hp1 HG03195.hp1 HG03490.hp2 others(4): Show |
intron_variant | MODIFIER | c.3634-774_3634-773d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | ||||||
| chr2:189040335
|
C | CTTT | 30 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(27): Show | 30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.3634-775_3634-773d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | ||||||
| chr2:189040335
|
CT | C | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0003t0001g0198others(2): Show | 5 | HG01261.hp1 HG02630.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.3634-773delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | ||||||
| chr2:189040335
|
CTT | C | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3634-774_3634-773d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | ||||||
| chr2:189040470
|
G | T | 1 | a0001c0001t0001g0085 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.3634-907C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040470 | ||||||
| chr2:189040500
|
C | A | 4 | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0095others(1): Show | 4 | HG00621.hp2 HG01975.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.3634-937G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040500 | ||||||
| chr2:189040658
|
A | AT | 9 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008others(6): Show | 9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.3633+927dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040658 | ||||||
| chr2:189040671
|
C | T | 159 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(156): Show | 159 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.3633+915G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040671 | ||||||
| chr2:189040676
|
C | T | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3633+910G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040676 | ||||||
| chr2:189040703
|
G | A | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3633+883C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040703 | ||||||
| chr2:189040712
|
T | C | 38 | a0001c0002t0002g0016a0001c0002t0002g0020a0001c0002t0002g0021others(35): Show | 38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3633+874A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040712 | ||||||
| chr2:189040875
|
T | C | 102 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(99): Show | 102 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.3633+711A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040875 | ||||||
| chr2:189040949
|
G | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3633+637C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040949 | ||||||
| chr2:189041023
|
C | A | 1 | a0001c0001t0001g0097 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.3633+563G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041023 | ||||||
| chr2:189041072
|
A | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3633+514T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041072 | ||||||
| chr2:189041468
|
C | T | 19 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(16): Show | 19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.3633+118G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041468 | ||||||
| chr2:189041479
|
G | A | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3633+107C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041479 | ||||||
| chr2:189041716
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3526-23A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189041716 | ||||||
| chr2:189041790
|
C | T | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(2): Show | 5 | HG02630.hp2 HG02818.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.3526-97G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189041790 | ||||||
| chr2:189042017
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.3526-324C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042017 | ||||||
| chr2:189042067
|
G | A | 5 | a0001c0002t0014g0242a0001c0002t0014g0244a0001c0012t0010g0040others(2): Show | 5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3526-374C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042067 | ||||||
| chr2:189042088
|
G | C | 59 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(56): Show | 59 | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.3526-395C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042088 | ||||||
| chr2:189042102
|
C | A | 169 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 172 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.3526-409G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042102 | ||||||
| chr2:189042367
|
T | C | 40 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(37): Show | 40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+353A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042367 | ||||||
| chr2:189042379
|
C | T | 32 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(29): Show | 32 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.3525+341G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042379 | ||||||
| chr2:189042381
|
G | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3525+339C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042381 | ||||||
| chr2:189042408
|
C | T | 40 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(37): Show | 40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+312G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042408 | ||||||
| chr2:189042513
|
C | T | 40 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(37): Show | 40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+207G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042513 | ||||||
| chr2:189042546
|
T | C | 40 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(37): Show | 40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+174A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042546 | ||||||
| chr2:189042839
|
A | G | 8 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(5): Show | 8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.3472-66T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042839 | ||||||
| chr2:189042936
|
A | G | 1 | a0001c0001t0001g0147 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3472-163T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042936 | ||||||
| chr2:189042950
|
A | G | 31 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(28): Show | 31 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(28): Show |
intron_variant | MODIFIER | c.3472-177T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042950 | ||||||
| chr2:189043059
|
T | G | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3471+92A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189043059 | ||||||
| chr2:189043089
|
G | A | 20 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(17): Show | 20 | HG00280.hp1 HG01069.hp1 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.3471+62C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189043089 | ||||||
| chr2:189043275
|
G | A | 1 | a0003c0014t0001g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3364-17C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043275 | ||||||
| chr2:189043287
|
A | G | 1 | a0002c0006t0005g0132 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3364-29T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043287 | ||||||
| chr2:189043338
|
A | G | 2 | a0001c0001t0001g0030a0001c0001t0001g0163 | 2 | HG02135.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.3364-80T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043338 | ||||||
| chr2:189043445
|
G | A | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3364-187C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043445 | ||||||
| chr2:189043570
|
GT | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.3364-313delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043570 | ||||||
| chr2:189043893
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3364-635G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043893 | ||||||
| chr2:189044259
|
T | G | 1 | a0001c0001t0004g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3363+920A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044259 | ||||||
| chr2:189044780
|
C | T | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3363+399G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044780 | ||||||
| chr2:189044784
|
G | C | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3363+395C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044784 | ||||||
| chr2:189044798
|
G | C | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3363+381C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044798 | ||||||
| chr2:189044902
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3363+277G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044902 | ||||||
| chr2:189044979
|
T | C | 1 | a0001c0001t0004g0193 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3363+200A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044979 | ||||||
| chr2:189045014
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3363+165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189045014 | ||||||
| chr2:189045032
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3363+147T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189045032 | ||||||
| chr2:189045340
|
A | ATG | 4 | a0001c0001t0001g0146a0001c0019t0001g0072a0001c0026t0015g0003others(1): Show | 4 | HG01069.hp1 NA18906.hp1 NA18945.hp2 others(1): Show |
intron_variant | MODIFIER | c.3310-110_3310-109d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | ||||||
| chr2:189045340
|
A | G | 22 | a0001c0001t0023g0009a0001c0004t0001g0002a0001c0004t0001g0056others(19): Show | 23 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(20): Show |
intron_variant | MODIFIER | c.3310-108T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | ||||||
| chr2:189045340
|
ATG | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(40): Show |
intron_variant | MODIFIER | c.3310-110_3310-109d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | ||||||
| chr2:189045363
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3310-131A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045363 | ||||||
| chr2:189045396
|
G | A | 47 | a0001c0001t0001g0030a0001c0001t0001g0070a0001c0001t0001g0163others(44): Show | 47 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(44): Show |
intron_variant | MODIFIER | c.3310-164C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045396 | ||||||
| chr2:189045441
|
T | C | 1 | a0001c0002t0002g0052 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.3310-209A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045441 | ||||||
| chr2:189045693
|
C | A | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3309+107G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045693 | ||||||
| chr2:189045969
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3202-62A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189045969 | ||||||
| chr2:189046148
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3202-241C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046148 | ||||||
| chr2:189046311
|
T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3202-404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046311 | ||||||
| chr2:189046440
|
T | C | 1 | a0001c0004t0001g0160 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3202-533A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046440 | ||||||
| chr2:189046442
|
C | T | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3202-535G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046442 | ||||||
| chr2:189046525
|
G | A | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3202-618C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046525 | ||||||
| chr2:189046671
|
A | G | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3202-764T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046671 | ||||||
| chr2:189046725
|
A | C | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.3202-818T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046725 | ||||||
| chr2:189046815
|
G | GA | 7 | a0001c0001t0001g0046a0001c0002t0009g0143a0001c0002t0009g0161others(4): Show | 7 | HG01978.hp2 HG02258.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.3202-909dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046815 | ||||||
| chr2:189046842
|
G | A | 98 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.3202-935C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046842 | ||||||
| chr2:189046923
|
A | G | 3 | a0001c0001t0001g0026a0006c0009t0001g0019a0006c0009t0001g0027 | 3 | HG01433.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3202-1016T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046923 | ||||||
| chr2:189046942
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3202-1035A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046942 | ||||||
| chr2:189047051
|
G | A | 1 | a0001c0008t0001g0215 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3202-1144C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047051 | ||||||
| chr2:189047120
|
C | CA | 62 | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0054others(59): Show | 66 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(63): Show |
intron_variant | MODIFIER | c.3201+1088dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | ||||||
| chr2:189047120
|
C | CAA | 9 | a0001c0001t0003g0045a0001c0004t0001g0171a0001c0004t0001g0176others(6): Show | 9 | HG01943.hp2 HG02056.hp1 NA18941.hp1 others(6): Show |
intron_variant | MODIFIER | c.3201+1087_3201+108 others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | ||||||
| chr2:189047120
|
CA | C | 12 | a0001c0001t0001g0088a0001c0001t0023g0009a0001c0002t0002g0028others(9): Show | 12 | HG01069.hp1 HG01192.hp2 HG03540.hp1 others(9): Show |
intron_variant | MODIFIER | c.3201+1088delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | ||||||
| chr2:189047645
|
T | G | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.3201+564A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047645 | ||||||
| chr2:189047799
|
T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3201+410A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047799 | ||||||
| chr2:189047946
|
C | T | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3201+263G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047946 | ||||||
| chr2:189048324
|
A | C | 1 | a0001c0001t0001g0026 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3148-62T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048324 | ||||||
| chr2:189048397
|
CAGA | C | 21 | a0001c0003t0001g0150a0001c0003t0001g0164a0001c0003t0001g0175others(18): Show | 21 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3148-138_3148-136d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048397 | ||||||
| chr2:189048547
|
C | T | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.3148-285G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048547 | ||||||
| chr2:189048649
|
C | T | 1 | a0003c0014t0001g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3148-387G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048649 | ||||||
| chr2:189048678
|
TC | T | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.3148-417delG | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048678 | ||||||
| chr2:189048696
|
T | C | 9 | a0001c0001t0003g0178a0001c0001t0003g0179a0001c0001t0003g0180others(6): Show | 9 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(6): Show |
intron_variant | MODIFIER | c.3148-434A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048696 | ||||||
| chr2:189048774
|
T | C | 1 | a0001c0025t0001g0125 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3148-512A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048774 | ||||||
| chr2:189048790
|
T | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3148-528A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048790 | ||||||
| chr2:189048992
|
C | A | 1 | a0001c0001t0001g0068 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3147+355G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048992 | ||||||
| chr2:189049016
|
A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3147+331T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049016 | ||||||
| chr2:189049022
|
T | C | 51 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(48): Show | 51 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.3147+325A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049022 | ||||||
| chr2:189049046
|
A | AG | 153 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(150): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.3147+300dupC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049046 | ||||||
| chr2:189049049
|
G | GA | 4 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0028t0012g0151others(1): Show | 4 | HG02630.hp2 HG02818.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.3147+297dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049049 | ||||||
| chr2:189049104
|
T | G | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3147+243A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049104 | ||||||
| chr2:189049301
|
T | C | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.3147+46A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049301 | ||||||
| chr2:189049494
|
T | C | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3040-40A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049494 | ||||||
| chr2:189049506
|
A | C | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3040-52T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049506 | ||||||
| chr2:189049513
|
A | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3040-59T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049513 | ||||||
| chr2:189049619
|
C | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.3040-165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049619 | ||||||
| chr2:189049644
|
C | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3040-190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049644 | ||||||
| chr2:189049661
|
A | G | 39 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(36): Show | 39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.3040-207T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049661 | ||||||
| chr2:189050223
|
G | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3039+346C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050223 | ||||||
| chr2:189050280
|
CTCCGGGA | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.3039+282_3039+288d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050280 | ||||||
| chr2:189050329
|
T | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3039+240A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050329 | ||||||
| chr2:189050838
|
C | T | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2932-162G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189050838 | ||||||
| chr2:189051087
|
T | C | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.2931+233A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051087 | ||||||
| chr2:189051165
|
G | A | 1 | a0001c0001t0004g0081 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2931+155C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051165 | ||||||
| chr2:189051199
|
T | A | 1 | a0001c0003t0001g0191 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2931+121A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051199 | ||||||
| chr2:189051309
|
G | A | 1 | a0001c0001t0001g0192 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2931+11C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051309 | ||||||
| chr2:189051515
|
C | A | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2770-34G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051515 | ||||||
| chr2:189051540
|
T | C | 1 | a0001c0001t0001g0054 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2770-59A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051540 | ||||||
| chr2:189051642
|
CAAAAG | C | 39 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(36): Show | 39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.2770-166_2770-162d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051642 | ||||||
| chr2:189051647
|
G | C | 1 | a0001c0004t0021g0134 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2770-166C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051647 | ||||||
| chr2:189051671
|
C | T | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.2770-190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051671 | ||||||
| chr2:189051787
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2770-306A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051787 | ||||||
| chr2:189051885
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2769+287T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051885 | ||||||
| chr2:189051908
|
T | C | 1 | a0001c0001t0003g0185 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2769+264A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051908 | ||||||
| chr2:189052009
|
G | A | 2 | a0001c0001t0003g0211a0001c0001t0003g0222 | 2 | NA18942.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.2769+163C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052009 | ||||||
| chr2:189052069
|
C | T | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2769+103G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052069 | ||||||
| chr2:189052153
|
T | A | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2769+19A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052153 | ||||||
| chr2:189052229
|
G | A | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
splice_region_variant&intron_variant | LOW | c.2716-4C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052229 | ||||||
| chr2:189052247
|
A | T | 1 | a0001c0002t0002g0138 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2716-22T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052247 | ||||||
| chr2:189052366
|
C | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.2716-141G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052366 | ||||||
| chr2:189052511
|
T | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2715+238A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052511 | ||||||
| chr2:189052512
|
T | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2715+237A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052512 | ||||||
| chr2:189052513
|
T | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2715+236A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052513 | ||||||
| chr2:189052536
|
A | G | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2715+213T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052536 | ||||||
| chr2:189052642
|
T | C | 1 | a0001c0001t0001g0093 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2715+107A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052642 | ||||||
| chr2:189052707
|
G | T | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2715+42C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052707 | ||||||
| chr2:189052891
|
C | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2661+20G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 39/53 | chr2 | 189052891 | ||||||
| chr2:189053032
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2554-14A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053032 | ||||||
| chr2:189053078
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2554-60T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053078 | ||||||
| chr2:189053336
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2553+88G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053336 | ||||||
| chr2:189053372
|
T | C | 2 | a0001c0001t0008g0220a0001c0001t0025g0243 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2553+52A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053372 | ||||||
| chr2:189053611
|
T | C | 157 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.2500-134A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053611 | ||||||
| chr2:189053790
|
A | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2499+105T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053790 | ||||||
| chr2:189053854
|
C | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2499+41G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053854 | ||||||
| chr2:189053858
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2499+37T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053858 | ||||||
| chr2:189054032
|
T | C | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2446-84A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054032 | ||||||
| chr2:189054035
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2446-87A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054035 | ||||||
| chr2:189054061
|
C | T | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2445+98G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054061 | ||||||
| chr2:189054071
|
A | G | 8 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(5): Show | 8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2445+88T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054071 | ||||||
| chr2:189054117
|
A | T | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2445+42T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054117 | ||||||
| chr2:189054253
|
G | A | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2392-41C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054253 | ||||||
| chr2:189054298
|
C | T | 1 | a0010c0024t0004g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2392-86G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054298 | ||||||
| chr2:189054375
|
G | T | 1 | a0004c0013t0001g0114 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2392-163C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054375 | ||||||
| chr2:189054440
|
T | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2392-228A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054440 | ||||||
| chr2:189054687
|
T | A | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2392-475A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054687 | ||||||
| chr2:189054687
|
TTC | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2392-477_2392-476d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054687 | ||||||
| chr2:189054690
|
C | CT | 8 | a0001c0001t0001g0053a0001c0001t0001g0084a0001c0001t0001g0109others(5): Show | 8 | HG02145.hp1 HG03516.hp2 HG03704.hp2 others(5): Show |
intron_variant | MODIFIER | c.2392-479dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054690 | ||||||
| chr2:189054690
|
CT | C | 97 | a0001c0001t0001g0030a0001c0001t0001g0044a0001c0001t0001g0061others(94): Show | 98 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.2392-479delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054690 | ||||||
| chr2:189054691
|
T | C | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2392-479A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054691 | ||||||
| chr2:189054791
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2392-579A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054791 | ||||||
| chr2:189054887
|
AT | A | 48 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(45): Show | 48 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.2392-676delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054887 | ||||||
| chr2:189055008
|
C | G | 4 | a0001c0005t0002g0172a0001c0005t0002g0174a0001c0005t0002g0229others(1): Show | 4 | HG00423.hp2 HG00609.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.2392-796G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055008 | ||||||
| chr2:189055080
|
G | T | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2392-868C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055080 | ||||||
| chr2:189055463
|
C | T | 1 | a0001c0002t0002g0060 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2392-1251G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055463 | ||||||
| chr2:189055501
|
TTATAGAT others(3): Show |
T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2392-1299_2392-129 others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055501 | ||||||
| chr2:189055892
|
T | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2391+1081A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055892 | ||||||
| chr2:189056076
|
C | T | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2391+897G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056076 | ||||||
| chr2:189056193
|
T | C | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2391+780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056193 | ||||||
| chr2:189056207
|
T | C | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.2391+766A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056207 | ||||||
| chr2:189056332
|
C | T | 1 | a0001c0001t0004g0193 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2391+641G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056332 | ||||||
| chr2:189056571
|
T | C | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2391+402A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056571 | ||||||
| chr2:189056925
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2391+48A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056925 | ||||||
| chr2:189057050
|
T | C | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2338-24A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057050 | ||||||
| chr2:189057177
|
T | C | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2337+143A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057177 | ||||||
| chr2:189057258
|
C | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2337+62G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057258 | ||||||
| chr2:189057290
|
G | GA | 97 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(94): Show | 97 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.2337+29dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057290 | ||||||
| chr2:189057290
|
GA | G | 11 | a0001c0001t0003g0045a0001c0001t0003g0210a0001c0004t0001g0056others(8): Show | 11 | HG01081.hp2 HG01192.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.2337+29delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057290 | ||||||
| chr2:189057481
|
T | C | 2 | a0001c0001t0008g0220a0001c0001t0025g0243 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2230-54A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057481 | ||||||
| chr2:189057547
|
T | C | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2230-120A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057547 | ||||||
| chr2:189057587
|
T | C | 6 | a0001c0002t0002g0020a0001c0002t0002g0021a0001c0002t0002g0022others(3): Show | 6 | HG00597.hp1 NA18960.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.2230-160A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057587 | ||||||
| chr2:189057624
|
C | T | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2230-197G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057624 | ||||||
| chr2:189057666
|
G | T | 12 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0020others(9): Show | 12 | HG00597.hp1 HG02135.hp2 NA18612.hp2 others(9): Show |
intron_variant | MODIFIER | c.2230-239C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057666 | ||||||
| chr2:189057682
|
A | G | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2230-255T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057682 | ||||||
| chr2:189057864
|
C | T | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2230-437G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057864 | ||||||
| chr2:189058011
|
G | C | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2229+418C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058011 | ||||||
| chr2:189058194
|
A | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.2229+235T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058194 | ||||||
| chr2:189058259
|
A | C | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2229+170T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058259 | ||||||
| chr2:189058334
|
T | C | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2229+95A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058334 | ||||||
| chr2:189058370
|
C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2229+59G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058370 | ||||||
| chr2:189058378
|
A | G | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.2229+51T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058378 | ||||||
| chr2:189058556
|
C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2131-29G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058556 | ||||||
| chr2:189058675
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2131-148A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058675 | ||||||
| chr2:189058708
|
A | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2130+141T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058708 | ||||||
| chr2:189058724
|
A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2130+125T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058724 | ||||||
| chr2:189058904
|
A | AT | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.2086-12dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189058904 | ||||||
| chr2:189058904
|
AT | A | 155 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(152): Show | 155 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.2086-12delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189058904 | ||||||
| chr2:189059552
|
C | T | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2086-659G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059552 | ||||||
| chr2:189059585
|
G | GT | 17 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0062others(14): Show | 20 | HG01358.hp1 HG02055.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.2086-693dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTT | 28 | a0001c0001t0001g0030a0001c0001t0004g0081a0001c0001t0004g0149others(25): Show | 28 | HG00280.hp1 HG00597.hp1 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.2086-697_2086-693d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTT | 19 | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0001g0068others(16): Show | 19 | HG01081.hp2 HG01106.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.2086-698_2086-693d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT | 5 | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0002t0020g0038others(2): Show | 5 | HG01192.hp1 HG02258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2086-699_2086-693d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(8): Show |
4 | a0001c0001t0001g0054a0001c0001t0001g0085a0003c0014t0001g0039others(1): Show | 4 | HG01081.hp1 HG01169.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.2086-707_2086-693d others(17): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(9): Show |
25 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0015others(22): Show | 25 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(22): Show |
intron_variant | MODIFIER | c.2086-708_2086-693d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(10): Show |
24 | a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0042others(21): Show | 24 | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(21): Show |
intron_variant | MODIFIER | c.2086-709_2086-693d others(19): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(11): Show |
14 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0074others(11): Show | 14 | HG01517.hp2 HG01884.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.2086-710_2086-693d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(12): Show |
4 | a0001c0001t0001g0046a0001c0001t0001g0102a0001c0001t0001g0159others(1): Show | 4 | HG01978.hp2 HG02145.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2086-711_2086-693d others(21): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(13): Show |
4 | a0001c0001t0001g0091a0001c0001t0001g0118a0001c0001t0001g0158others(1): Show | 4 | NA18906.hp2 NA18978.hp1 NA19006.hp2 others(1): Show |
intron_variant | MODIFIER | c.2086-712_2086-693d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(14): Show |
1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2086-713_2086-693d others(23): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(15): Show |
3 | a0001c0001t0001g0041a0001c0001t0001g0058a0001c0001t0001g0096 | 3 | HG03492.hp1 HG03831.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.2086-714_2086-693d others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(16): Show |
1 | a0001c0001t0001g0061 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2086-715_2086-693d others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(17): Show |
1 | a0001c0001t0001g0090 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2086-716_2086-693d others(26): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(20): Show |
1 | a0001c0019t0001g0072 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2086-693_2086-692i others(29): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
G | GTTTTTTT others(25): Show |
1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2086-693_2086-692i others(34): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
GT | G | 29 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(26): Show | 30 | HG01257.hp1 HG01258.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.2086-693delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
GTT | G | 12 | a0001c0001t0001g0111a0001c0001t0003g0178a0001c0001t0003g0180others(9): Show | 12 | HG00408.hp1 HG02165.hp1 NA18747.hp1 others(9): Show |
intron_variant | MODIFIER | c.2086-694_2086-693d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059585
|
GTTTTTTT others(2): Show |
G | 7 | a0001c0001t0023g0009a0001c0002t0009g0143a0001c0002t0009g0161others(4): Show | 7 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.2086-701_2086-693d others(11): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | ||||||
| chr2:189059788
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2086-895A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059788 | ||||||
| chr2:189059926
|
A | C | 2 | a0001c0002t0002g0029a0001c0002t0002g0037 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2085+804T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059926 | ||||||
| chr2:189059953
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2085+777G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059953 | ||||||
| chr2:189059962
|
G | A | 4 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0070others(1): Show | 4 | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2085+768C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059962 | ||||||
| chr2:189060271
|
G | A | 1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2085+459C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060271 | ||||||
| chr2:189060278
|
C | G | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2085+452G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060278 | ||||||
| chr2:189060300
|
G | A | 1 | a0001c0002t0020g0038 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2085+430C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060300 | ||||||
| chr2:189060306
|
G | A | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2085+424C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060306 | ||||||
| chr2:189060344
|
C | G | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.2085+386G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060344 | ||||||
| chr2:189060394
|
TA | T | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.2085+335delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060394 | ||||||
| chr2:189060520
|
T | C | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2085+210A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060520 | ||||||
| chr2:189060587
|
G | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.2085+143C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060587 | ||||||
| chr2:189060817
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2032-34G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060817 | ||||||
| chr2:189060822
|
T | A | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.2032-39A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060822 | ||||||
| chr2:189060840
|
A | G | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2032-57T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060840 | ||||||
| chr2:189060859
|
T | A | 1 | a0001c0001t0001g0073 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2032-76A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060859 | ||||||
| chr2:189060886
|
T | C | 6 | a0001c0002t0002g0020a0001c0002t0002g0021a0001c0002t0002g0022others(3): Show | 6 | HG00597.hp1 NA18960.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.2032-103A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060886 | ||||||
| chr2:189060907
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2032-124C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060907 | ||||||
| chr2:189061129
|
T | A | 2 | a0001c0001t0003g0127a0001c0001t0003g0128 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.2032-346A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061129 | ||||||
| chr2:189061165
|
A | G | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2032-382T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061165 | ||||||
| chr2:189061283
|
T | C | 30 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(27): Show | 30 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(27): Show |
intron_variant | MODIFIER | c.2031+279A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061283 | ||||||
| chr2:189061493
|
CT | C | 8 | a0001c0001t0001g0054a0001c0001t0001g0121a0001c0001t0003g0183others(5): Show | 8 | HG01069.hp1 HG01069.hp2 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.2031+68delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061493 | ||||||
| chr2:189061502
|
T | A | 5 | a0001c0001t0001g0085a0001c0003t0001g0189a0002c0006t0005g0131others(2): Show | 5 | HG01192.hp2 HG01516.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2031+60A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061502 | ||||||
| chr2:189061502
|
TA | T | 17 | a0001c0001t0001g0061a0001c0001t0004g0005a0001c0001t0004g0043others(14): Show | 17 | HG00280.hp1 HG01884.hp2 HG01975.hp1 others(14): Show |
intron_variant | MODIFIER | c.2031+59delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061502 | ||||||
| chr2:189061503
|
A | T | 34 | a0001c0001t0001g0030a0001c0001t0001g0066a0001c0001t0001g0163others(31): Show | 34 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(31): Show |
intron_variant | MODIFIER | c.2031+59T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061503 | ||||||
| chr2:189061651
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1978-36G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061651 | ||||||
| chr2:189061696
|
T | C | 1 | a0001c0001t0001g0156 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1978-81A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061696 | ||||||
| chr2:189061733
|
C | G | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1978-118G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061733 | ||||||
| chr2:189062069
|
C | A | 1 | a0001c0001t0003g0186 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1978-454G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062069 | ||||||
| chr2:189062182
|
TA | T | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1978-568delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062182 | ||||||
| chr2:189062184
|
AT | A | 195 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(192): Show | 199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.1978-570delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062184 | ||||||
| chr2:189062185
|
T | C | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1978-570A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062185 | ||||||
| chr2:189062285
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1977+580C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062285 | ||||||
| chr2:189062331
|
A | T | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1977+534T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062331 | ||||||
| chr2:189062529
|
T | C | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1977+336A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062529 | ||||||
| chr2:189062780
|
C | G | 162 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(159): Show | 165 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.1977+85G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062780 | ||||||
| chr2:189062804
|
C | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1977+61G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062804 | ||||||
| chr2:189063143
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1869+29C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 27/53 | chr2 | 189063143 | ||||||
| chr2:189063453
|
T | C | 5 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1771-183A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063453 | ||||||
| chr2:189063669
|
A | C | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1770+311T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063669 | ||||||
| chr2:189063693
|
C | T | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.1770+287G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063693 | ||||||
| chr2:189063958
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1770+22C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063958 | ||||||
| chr2:189064108
|
TG | T | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1717-76delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064108 | ||||||
| chr2:189064273
|
C | CAAGTA | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.1717-241_1717-240i others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064273 | ||||||
| chr2:189064548
|
T | C | 2 | a0001c0003t0001g0175a0001c0003t0001g0206 | 2 | NA18940.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1716+9A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064548 | ||||||
| chr2:189064676
|
T | C | 1 | a0001c0001t0001g0069 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1618-21A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064676 | ||||||
| chr2:189064782
|
G | A | 1 | a0001c0001t0003g0180 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1618-127C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064782 | ||||||
| chr2:189064853
|
A | C | 1 | a0001c0001t0003g0185 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1617+151T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064853 | ||||||
| chr2:189064869
|
G | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1617+135C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064869 | ||||||
| chr2:189064936
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1617+68G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064936 | ||||||
| chr2:189064993
|
G | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1617+11C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064993 | ||||||
| chr2:189065078
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1564-21T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065078 | ||||||
| chr2:189065094
|
G | A | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1564-37C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065094 | ||||||
| chr2:189065104
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1564-47G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065104 | ||||||
| chr2:189065216
|
A | C | 1 | a0001c0003t0001g0189 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1564-159T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065216 | ||||||
| chr2:189065292
|
G | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1564-235C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065292 | ||||||
| chr2:189065339
|
G | T | 1 | a0001c0001t0001g0073 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1564-282C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065339 | ||||||
| chr2:189065628
|
T | C | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1564-571A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065628 | ||||||
| chr2:189065860
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1563+530G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065860 | ||||||
| chr2:189066128
|
G | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1563+262C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066128 | ||||||
| chr2:189066173
|
G | C | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1563+217C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066173 | ||||||
| chr2:189066217
|
T | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0234 | 2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1563+173A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066217 | ||||||
| chr2:189066517
|
A | G | 3 | a0001c0001t0001g0079a0001c0001t0001g0094a0001c0001t0001g0115 | 3 | HG00423.hp1 HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.1456-20T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066517 | ||||||
| chr2:189066636
|
T | C | 1 | a0001c0002t0002g0238 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1455+93A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066636 | ||||||
| chr2:189066723
|
C | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
splice_region_variant&intron_variant | LOW | c.1455+6G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066723 | ||||||
| chr2:189066828
|
A | G | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1402-46T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189066828 | ||||||
| chr2:189066989
|
A | T | 2 | a0001c0001t0003g0166a0001c0001t0003g0167 | 2 | HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1402-207T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189066989 | ||||||
| chr2:189067134
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1402-352G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067134 | ||||||
| chr2:189067200
|
G | A | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1402-418C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067200 | ||||||
| chr2:189067529
|
A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1401+486T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067529 | ||||||
| chr2:189067575
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1401+440T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067575 | ||||||
| chr2:189067657
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0093 | 2 | HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1401+358A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067657 | ||||||
| chr2:189067734
|
A | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1401+281T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067734 | ||||||
| chr2:189067916
|
A | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1401+99T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067916 | ||||||
| chr2:189068361
|
A | C | 1 | a0001c0001t0001g0097 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1258-91T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068361 | ||||||
| chr2:189068602
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1257+184C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068602 | ||||||
| chr2:189068711
|
T | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02109.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.1257+75A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068711 | ||||||
| chr2:189068731
|
G | A | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1257+55C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068731 | ||||||
| chr2:189068906
|
T | C | 1 | a0001c0001t0001g0088 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1159-22A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189068906 | ||||||
| chr2:189068960
|
G | A | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.1159-76C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189068960 | ||||||
| chr2:189069111
|
T | G | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.1159-227A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069111 | ||||||
| chr2:189069130
|
A | G | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1159-246T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069130 | ||||||
| chr2:189069203
|
C | T | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-319G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069203 | ||||||
| chr2:189069375
|
A | G | 154 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.1159-491T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069375 | ||||||
| chr2:189069450
|
C | T | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-566G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069450 | ||||||
| chr2:189069611
|
T | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1159-727A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069611 | ||||||
| chr2:189069731
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-847T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069731 | ||||||
| chr2:189069929
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1159-1045A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069929 | ||||||
| chr2:189070363
|
G | A | 1 | a0001c0003t0001g0150 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1159-1479C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070363 | ||||||
| chr2:189070366
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-1482T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070366 | ||||||
| chr2:189070516
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1524T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070516 | ||||||
| chr2:189070541
|
A | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1158+1499T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070541 | ||||||
| chr2:189070559
|
C | A | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1158+1481G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070559 | ||||||
| chr2:189070644
|
T | C | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1396A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070644 | ||||||
| chr2:189070662
|
CCT | C | 5 | a0001c0001t0001g0076a0001c0001t0001g0085a0001c0001t0001g0106others(2): Show | 5 | HG01516.hp2 HG01517.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1376_1158+137 others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070662 | ||||||
| chr2:189070771
|
G | A | 10 | a0001c0001t0003g0178a0001c0001t0003g0179a0001c0001t0003g0180others(7): Show | 10 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(7): Show |
intron_variant | MODIFIER | c.1158+1269C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070771 | ||||||
| chr2:189070828
|
G | T | 3 | a0001c0001t0001g0097a0001c0001t0001g0103a0001c0001t0001g0119 | 3 | HG00280.hp2 HG01255.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.1158+1212C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070828 | ||||||
| chr2:189070855
|
C | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1185G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070855 | ||||||
| chr2:189070934
|
G | A | 1 | a0001c0001t0001g0078 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1158+1106C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070934 | ||||||
| chr2:189070967
|
T | A | 75 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(72): Show |
intron_variant | MODIFIER | c.1158+1073A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070967 | ||||||
| chr2:189070977
|
C | A | 1 | a0001c0001t0001g0066 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1158+1063G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070977 | ||||||
| chr2:189071107
|
C | T | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.1158+933G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071107 | ||||||
| chr2:189071236
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1158+804G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071236 | ||||||
| chr2:189071385
|
T | C | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1158+655A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071385 | ||||||
| chr2:189071474
|
A | G | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+566T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071474 | ||||||
| chr2:189071924
|
CT | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1158+115delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071924 | ||||||
| chr2:189071961
|
T | G | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1158+79A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071961 | ||||||
| chr2:189072432
|
T | C | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1105-339A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072432 | ||||||
| chr2:189072499
|
C | T | 1 | a0001c0001t0025g0243 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1105-406G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072499 | ||||||
| chr2:189072500
|
G | T | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1105-407C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072500 | ||||||
| chr2:189072554
|
C | T | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-461G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072554 | ||||||
| chr2:189072570
|
G | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1105-477C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072570 | ||||||
| chr2:189072680
|
G | A | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1105-587C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072680 | ||||||
| chr2:189072765
|
C | CA | 58 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0026others(55): Show | 58 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(55): Show |
intron_variant | MODIFIER | c.1105-673dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAA | 34 | a0001c0001t0001g0133a0001c0001t0001g0146a0001c0001t0001g0147others(31): Show | 35 | HG00408.hp1 HG01978.hp1 HG01981.hp2 others(32): Show |
intron_variant | MODIFIER | c.1105-674_1105-673d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAA | 6 | a0001c0004t0001g0160a0001c0004t0001g0217a0001c0004t0001g0219others(3): Show | 6 | HG01433.hp1 HG02683.hp2 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-675_1105-673d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAAAAA | 13 | a0001c0001t0004g0043a0001c0001t0004g0081a0001c0001t0004g0193others(10): Show | 13 | HG01081.hp2 HG01192.hp2 HG01975.hp1 others(10): Show |
intron_variant | MODIFIER | c.1105-678_1105-673d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAAAAAA | 6 | a0001c0001t0004g0149a0001c0002t0009g0162a0001c0002t0014g0244others(3): Show | 6 | HG00280.hp1 HG03225.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-679_1105-673d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAAAAAA others(1): Show |
22 | a0001c0001t0001g0030a0001c0002t0002g0016a0001c0002t0002g0020others(19): Show | 22 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(19): Show |
intron_variant | MODIFIER | c.1105-680_1105-673d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAAAAAA others(2): Show |
5 | a0001c0001t0001g0163a0001c0002t0002g0023a0001c0002t0002g0052others(2): Show | 5 | HG02135.hp2 HG02293.hp1 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-681_1105-673d others(11): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
C | CAAAAAAA others(3): Show |
1 | a0001c0002t0014g0242 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1105-682_1105-673d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
CA | C | 6 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(3): Show | 9 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1105-673delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072765
|
CAAAAAAA others(5): Show |
C | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1105-684_1105-673d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | ||||||
| chr2:189072824
|
GTGGATAT others(3): Show |
G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1105-741_1105-732d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072824 | ||||||
| chr2:189072873
|
T | C | 2 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | HG01192.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.1105-780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072873 | ||||||
| chr2:189072984
|
C | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1105-891G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072984 | ||||||
| chr2:189073029
|
T | C | 4 | a0001c0001t0001g0014a0001c0001t0001g0144a0001c0001t0013g0145others(1): Show | 4 | HG03041.hp2 NA19030.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.1105-936A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073029 | ||||||
| chr2:189073109
|
C | A | 2 | a0001c0001t0004g0005a0010c0024t0004g0065 | 2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1105-1016G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073109 | ||||||
| chr2:189073128
|
A | T | 2 | a0001c0001t0001g0018a0001c0001t0001g0105 | 2 | HG00099.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.1105-1035T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073128 | ||||||
| chr2:189073166
|
G | A | 7 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0067others(4): Show | 7 | HG01192.hp1 HG01261.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1105-1073C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073166 | ||||||
| chr2:189073323
|
T | C | 15 | a0001c0001t0001g0014a0001c0001t0001g0116a0001c0001t0001g0144others(12): Show | 15 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(12): Show |
intron_variant | MODIFIER | c.1105-1230A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073323 | ||||||
| chr2:189073375
|
A | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.1105-1282T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073375 | ||||||
| chr2:189073500
|
A | G | 5 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1105-1407T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073500 | ||||||
| chr2:189073528
|
TG | T | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1105-1436delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073528 | ||||||
| chr2:189073598
|
G | A | 1 | a0001c0003t0001g0200 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1105-1505C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073598 | ||||||
| chr2:189073697
|
A | G | 1 | a0001c0002t0002g0025 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1105-1604T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073697 | ||||||
| chr2:189073765
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1104+1628G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073765 | ||||||
| chr2:189073945
|
C | A | 1 | a0001c0001t0001g0156 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1104+1448G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073945 | ||||||
| chr2:189074023
|
T | C | 1 | a0001c0002t0002g0016 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1104+1370A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074023 | ||||||
| chr2:189074203
|
C | T | 10 | a0001c0001t0003g0178a0001c0001t0003g0179a0001c0001t0003g0180others(7): Show | 10 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(7): Show |
intron_variant | MODIFIER | c.1104+1190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074203 | ||||||
| chr2:189074218
|
T | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1104+1175A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074218 | ||||||
| chr2:189074234
|
C | T | 51 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(48): Show | 51 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1104+1159G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074234 | ||||||
| chr2:189074245
|
A | G | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1104+1148T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074245 | ||||||
| chr2:189074256
|
C | G | 1 | a0001c0004t0001g0219 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1104+1137G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074256 | ||||||
| chr2:189074270
|
A | G | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.1104+1123T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074270 | ||||||
| chr2:189074668
|
T | C | 2 | a0001c0001t0003g0127a0001c0001t0003g0128 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1104+725A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074668 | ||||||
| chr2:189074676
|
C | A | 1 | a0001c0001t0004g0193 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1104+717G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074676 | ||||||
| chr2:189074768
|
G | A | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1104+625C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074768 | ||||||
| chr2:189074825
|
G | T | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1104+568C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074825 | ||||||
| chr2:189074977
|
A | G | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1104+416T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074977 | ||||||
| chr2:189074992
|
G | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1104+401C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074992 | ||||||
| chr2:189075018
|
T | G | 3 | a0001c0001t0003g0210a0001c0001t0003g0211a0001c0001t0003g0222 | 3 | NA18942.hp1 NA18953.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.1104+375A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075018 | ||||||
| chr2:189075064
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1104+329T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075064 | ||||||
| chr2:189075179
|
T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1104+214A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075179 | ||||||
| chr2:189075277
|
A | G | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1104+116T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075277 | ||||||
| chr2:189075378
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1104+15T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075378 | ||||||
| chr2:189076173
|
G | A | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.1060-736C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076173 | ||||||
| chr2:189076176
|
C | T | 157 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.1060-739G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076176 | ||||||
| chr2:189076268
|
T | C | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1060-831A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076268 | ||||||
| chr2:189076512
|
T | C | 5 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1060-1075A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076512 | ||||||
| chr2:189076580
|
G | T | 1 | a0001c0001t0001g0026 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1060-1143C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076580 | ||||||
| chr2:189076603
|
A | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1060-1166T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076603 | ||||||
| chr2:189076639
|
G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1060-1202C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076639 | ||||||
| chr2:189076642
|
A | G | 1 | a0001c0002t0002g0139 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1060-1205T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076642 | ||||||
| chr2:189076643
|
A | G | 1 | a0001c0002t0002g0139 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1060-1206T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076643 | ||||||
| chr2:189076747
|
G | A | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1060-1310C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076747 | ||||||
| chr2:189076808
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1060-1371G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076808 | ||||||
| chr2:189076980
|
C | T | 1 | a0001c0001t0001g0099 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1059+1536G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076980 | ||||||
| chr2:189077011
|
A | G | 1 | a0001c0001t0003g0185 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1059+1505T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077011 | ||||||
| chr2:189077016
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1059+1500A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077016 | ||||||
| chr2:189077058
|
C | A | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1059+1458G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077058 | ||||||
| chr2:189077128
|
G | C | 5 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1059+1388C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077128 | ||||||
| chr2:189077308
|
C | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1059+1208G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077308 | ||||||
| chr2:189077367
|
A | G | 239 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(236): Show | 243 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.1059+1149T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077367 | ||||||
| chr2:189077419
|
C | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1059+1097G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077419 | ||||||
| chr2:189077505
|
A | G | 1 | a0001c0001t0001g0044 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1059+1011T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077505 | ||||||
| chr2:189077521
|
C | A | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1059+995G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077521 | ||||||
| chr2:189077534
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+982G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077534 | ||||||
| chr2:189077786
|
A | G | 199 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(196): Show | 202 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
intron_variant | MODIFIER | c.1059+730T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077786 | ||||||
| chr2:189077830
|
C | T | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.1059+686G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077830 | ||||||
| chr2:189077940
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+576G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077940 | ||||||
| chr2:189078047
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+469C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078047 | ||||||
| chr2:189078069
|
A | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1059+447T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078069 | ||||||
| chr2:189078329
|
G | T | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1059+187C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078329 | ||||||
| chr2:189078395
|
GA | G | 237 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(234): Show | 241 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.1059+120delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078395 | ||||||
| chr2:189078578
|
G | A | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1006-9C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078578 | ||||||
| chr2:189078638
|
C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1006-69G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078638 | ||||||
| chr2:189078709
|
G | C | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1006-140C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078709 | ||||||
| chr2:189078756
|
A | C | 2 | a0001c0001t0001g0082a0001c0001t0001g0112 | 2 | HG02056.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.1006-187T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078756 | ||||||
| chr2:189078850
|
G | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1005+213C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078850 | ||||||
| chr2:189078850
|
G | T | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1005+213C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078850 | ||||||
| chr2:189078863
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1005+200C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078863 | ||||||
| chr2:189079037
|
T | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1005+26A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189079037 | ||||||
| chr2:189079325
|
G | T | 1 | a0001c0001t0001g0054 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.961-218C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079325 | ||||||
| chr2:189079331
|
C | T | 2 | a0001c0001t0004g0005a0010c0024t0004g0065 | 2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.961-224G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079331 | ||||||
| chr2:189079441
|
A | G | 4 | a0001c0001t0003g0152a0001c0001t0003g0224a0001c0001t0003g0225others(1): Show | 4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.961-334T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079441 | ||||||
| chr2:189079491
|
A | T | 1 | a0001c0001t0013g0013 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.961-384T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079491 | ||||||
| chr2:189079605
|
G | A | 50 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(47): Show | 50 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(47): Show |
intron_variant | MODIFIER | c.960+373C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079605 | ||||||
| chr2:189079720
|
T | C | 1 | a0001c0001t0003g0182 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.960+258A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079720 | ||||||
| chr2:189079750
|
C | T | 12 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162others(9): Show | 12 | HG01069.hp1 HG01081.hp2 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.960+228G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079750 | ||||||
| chr2:189079869
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.960+109A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079869 | ||||||
| chr2:189079943
|
A | G | 1 | a0001c0001t0001g0096 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.960+35T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079943 | ||||||
| chr2:189080172
|
T | C | 1 | a0001c0001t0001g0133 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.907-141A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080172 | ||||||
| chr2:189080363
|
TATC | T | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.907-335_907-333del others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080363 | ||||||
| chr2:189080508
|
T | TGATA | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+478_907-478dup others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080508 | ||||||
| chr2:189080546
|
C | T | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.906+444G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080546 | ||||||
| chr2:189080675
|
T | C | 1 | a0001c0001t0001g0104 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.906+315A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080675 | ||||||
| chr2:189080687
|
C | T | 5 | a0001c0001t0004g0043a0001c0001t0004g0081a0001c0001t0004g0149others(2): Show | 5 | HG00280.hp1 HG01975.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.906+303G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080687 | ||||||
| chr2:189080688
|
G | A | 113 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(110): Show | 113 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.906+302C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080688 | ||||||
| chr2:189080812
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+178A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080812 | ||||||
| chr2:189080900
|
A | G | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.906+90T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080900 | ||||||
| chr2:189080928
|
T | G | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+62A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080928 | ||||||
| chr2:189080962
|
T | C | 2 | a0001c0001t0004g0149a0001c0001t0004g0221 | 2 | HG00280.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.906+28A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080962 | ||||||
| chr2:189081132
|
A | G | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.853-89T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081132 | ||||||
| chr2:189081189
|
T | C | 1 | a0002c0006t0017g0136 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.853-146A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081189 | ||||||
| chr2:189081316
|
A | G | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.853-273T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081316 | ||||||
| chr2:189081340
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.853-297A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081340 | ||||||
| chr2:189081408
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-365A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081408 | ||||||
| chr2:189081481
|
T | C | 1 | a0013c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.853-438A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081481 | ||||||
| chr2:189081496
|
C | A | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.853-453G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081496 | ||||||
| chr2:189081610
|
GA | G | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-568delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081610 | ||||||
| chr2:189081614
|
A | G | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-571T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081614 | ||||||
| chr2:189081792
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-749A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081792 | ||||||
| chr2:189081812
|
C | T | 157 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.853-769G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081812 | ||||||
| chr2:189081982
|
G | A | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.853-939C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081982 | ||||||
| chr2:189082072
|
C | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-1029G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082072 | ||||||
| chr2:189082259
|
A | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-1216T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082259 | ||||||
| chr2:189082270
|
T | C | 31 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(28): Show | 31 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(28): Show |
intron_variant | MODIFIER | c.853-1227A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082270 | ||||||
| chr2:189082285
|
G | A | 1 | a0001c0001t0001g0051 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.853-1242C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082285 | ||||||
| chr2:189082310
|
A | T | 1 | a0001c0001t0001g0093 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.853-1267T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082310 | ||||||
| chr2:189082532
|
G | A | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.852+1452C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082532 | ||||||
| chr2:189082723
|
C | T | 4 | a0001c0001t0001g0058a0001c0001t0001g0146a0001c0001t0001g0147others(1): Show | 4 | HG02630.hp2 HG03453.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.852+1261G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082723 | ||||||
| chr2:189082986
|
TA | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+997delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082986 | ||||||
| chr2:189083088
|
C | T | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.852+896G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083088 | ||||||
| chr2:189083122
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.852+862A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083122 | ||||||
| chr2:189083192
|
A | G | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+792T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083192 | ||||||
| chr2:189083211
|
A | G | 1 | a0001c0001t0007g0057 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.852+773T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083211 | ||||||
| chr2:189083239
|
C | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+745G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083239 | ||||||
| chr2:189083273
|
A | C | 2 | a0001c0001t0001g0122a0014c0020t0001g0123 | 2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.852+711T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083273 | ||||||
| chr2:189083351
|
G | C | 2 | a0005c0011t0001g0077a0005c0011t0001g0080 | 2 | NA18975.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.852+633C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083351 | ||||||
| chr2:189083507
|
A | G | 1 | a0001c0004t0001g0165 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.852+477T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083507 | ||||||
| chr2:189083541
|
C | T | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.852+443G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083541 | ||||||
| chr2:189083576
|
T | C | 2 | a0001c0001t0004g0005a0010c0024t0004g0065 | 2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.852+408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083576 | ||||||
| chr2:189083606
|
G | T | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.852+378C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083606 | ||||||
| chr2:189083674
|
GA | G | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(43): Show |
intron_variant | MODIFIER | c.852+309delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083674 | ||||||
| chr2:189083734
|
C | T | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.852+250G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083734 | ||||||
| chr2:189083823
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+161A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083823 | ||||||
| chr2:189083835
|
T | C | 6 | a0001c0002t0002g0092a0001c0002t0002g0138a0001c0002t0002g0139others(3): Show | 6 | HG03834.hp1 NA18942.hp2 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.852+149A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083835 | ||||||
| chr2:189083925
|
G | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+59C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083925 | ||||||
| chr2:189083970
|
G | A | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+14C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083970 | ||||||
| chr2:189084327
|
T | A | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.799-290A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084327 | ||||||
| chr2:189084441
|
T | C | 8 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(5): Show | 8 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(5): Show |
intron_variant | MODIFIER | c.799-404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084441 | ||||||
| chr2:189084453
|
G | T | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.799-416C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084453 | ||||||
| chr2:189084463
|
T | C | 157 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.799-426A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084463 | ||||||
| chr2:189084483
|
T | G | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.799-446A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084483 | ||||||
| chr2:189084551
|
G | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.799-514C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084551 | ||||||
| chr2:189084663
|
T | C | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0023g0009others(4): Show | 7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.798+497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084663 | ||||||
| chr2:189084664
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.798+496C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084664 | ||||||
| chr2:189084701
|
T | C | 1 | a0001c0001t0013g0013 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.798+459A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084701 | ||||||
| chr2:189084752
|
T | C | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.798+408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084752 | ||||||
| chr2:189084772
|
C | T | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(43): Show |
intron_variant | MODIFIER | c.798+388G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084772 | ||||||
| chr2:189084874
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.798+286A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084874 | ||||||
| chr2:189084902
|
A | G | 10 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(7): Show | 10 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.798+258T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084902 | ||||||
| chr2:189084932
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.798+228C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084932 | ||||||
| chr2:189084976
|
G | A | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.798+184C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084976 | ||||||
| chr2:189085033
|
C | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+127G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085033 | ||||||
| chr2:189085060
|
T | A | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+100A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085060 | ||||||
| chr2:189085061
|
G | T | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+99C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085061 | ||||||
| chr2:189085117
|
G | A | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.798+43C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085117 | ||||||
| chr2:189085226
|
C | T | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.745-13G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085226 | ||||||
| chr2:189085264
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.745-51G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085264 | ||||||
| chr2:189085343
|
G | A | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.745-130C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085343 | ||||||
| chr2:189085352
|
G | A | 1 | a0001c0004t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.745-139C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085352 | ||||||
| chr2:189085484
|
C | A | 1 | a0001c0004t0021g0134 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.744+235G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085484 | ||||||
| chr2:189085561
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.744+158A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085561 | ||||||
| chr2:189085579
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.744+140G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085579 | ||||||
| chr2:189085581
|
T | C | 2 | a0001c0003t0011g0168a0001c0003t0011g0169 | 2 | HG01106.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.744+138A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085581 | ||||||
| chr2:189085830
|
G | A | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-58C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189085830 | ||||||
| chr2:189085978
|
T | C | 5 | a0001c0003t0001g0175a0001c0003t0001g0201a0001c0003t0001g0202others(2): Show | 5 | NA18940.hp2 NA18953.hp2 NA18975.hp1 others(2): Show |
intron_variant | MODIFIER | c.691-206A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189085978 | ||||||
| chr2:189086031
|
C | CAG | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-261_691-260dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086031 | ||||||
| chr2:189086145
|
C | T | 48 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(45): Show | 48 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.691-373G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086145 | ||||||
| chr2:189086199
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-427A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086199 | ||||||
| chr2:189086215
|
G | C | 1 | a0001c0004t0001g0212 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.691-443C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086215 | ||||||
| chr2:189086253
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.690+473A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086253 | ||||||
| chr2:189086278
|
A | G | 12 | a0001c0002t0002g0016a0001c0002t0002g0025a0001c0002t0002g0052others(9): Show | 12 | HG01106.hp2 HG02293.hp1 HG03688.hp1 others(9): Show |
intron_variant | MODIFIER | c.690+448T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086278 | ||||||
| chr2:189086279
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.690+447A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086279 | ||||||
| chr2:189086366
|
C | T | 27 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(24): Show | 27 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(24): Show |
intron_variant | MODIFIER | c.690+360G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086366 | ||||||
| chr2:189086429
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.690+297T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086429 | ||||||
| chr2:189086557
|
T | C | 45 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(42): Show | 45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.690+169A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086557 | ||||||
| chr2:189086686
|
G | A | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.690+40C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086686 | ||||||
| chr2:189086698
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.690+28C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086698 | ||||||
| chr2:189087026
|
T | C | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.646-256A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087026 | ||||||
| chr2:189087104
|
T | A | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.646-334A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087104 | ||||||
| chr2:189087170
|
T | TTAGA | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-401_646-400ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087170 | ||||||
| chr2:189087247
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-477A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087247 | ||||||
| chr2:189087340
|
C | A | 1 | a0001c0003t0001g0190 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.646-570G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087340 | ||||||
| chr2:189087498
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.646-728G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087498 | ||||||
| chr2:189087598
|
A | G | 215 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(212): Show | 219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.646-828T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087598 | ||||||
| chr2:189087629
|
AT | A | 62 | a0001c0001t0001g0032a0001c0001t0001g0044a0001c0001t0001g0063others(59): Show | 63 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.646-860delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087629 | ||||||
| chr2:189087629
|
ATT | A | 42 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.646-861_646-860del others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087629 | ||||||
| chr2:189087658
|
A | G | 46 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(43): Show | 46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.646-888T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087658 | ||||||
| chr2:189087676
|
C | T | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.646-906G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087676 | ||||||
| chr2:189087693
|
TCCTGACC others(5): Show |
T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-935_646-924del others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087693 | ||||||
| chr2:189087706
|
A | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-936T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087706 | ||||||
| chr2:189087718
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-948A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087718 | ||||||
| chr2:189087747
|
G | A | 3 | a0001c0012t0010g0040a0001c0012t0010g0126a0001c0026t0015g0003 | 3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.645+948C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087747 | ||||||
| chr2:189087842
|
T | TA | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.645+852dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087842 | ||||||
| chr2:189087842
|
T | TAAA | 40 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(37): Show | 40 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(37): Show |
intron_variant | MODIFIER | c.645+850_645+852dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087842 | ||||||
| chr2:189087888
|
C | T | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.645+807G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087888 | ||||||
| chr2:189087906
|
G | A | 155 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(152): Show | 155 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.645+789C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087906 | ||||||
| chr2:189087985
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.645+710G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087985 | ||||||
| chr2:189088001
|
GGATAGAA others(15): Show |
G | 1 | a0001c0001t0004g0081 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.645+672_645+693del others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088001 | ||||||
| chr2:189088086
|
T | C | 1 | a0001c0001t0001g0079 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.645+609A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088086 | ||||||
| chr2:189088149
|
G | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.645+546C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088149 | ||||||
| chr2:189088236
|
C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.645+459G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088236 | ||||||
| chr2:189088255
|
T | C | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.645+440A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088255 | ||||||
| chr2:189088528
|
A | G | 1 | a0001c0001t0001g0063 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.645+167T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088528 | ||||||
| chr2:189088559
|
A | AAATG | 155 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(152): Show | 155 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.645+132_645+135dup others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088559 | ||||||
| chr2:189088583
|
G | A | 4 | a0001c0002t0002g0020a0001c0002t0002g0021a0001c0002t0002g0022others(1): Show | 4 | NA18960.hp1 NA18965.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.645+112C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088583 | ||||||
| chr2:189088587
|
G | A | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.645+108C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088587 | ||||||
| chr2:189088782
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-10G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088782 | ||||||
| chr2:189088825
|
G | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-53C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088825 | ||||||
| chr2:189088902
|
G | T | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.568-130C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088902 | ||||||
| chr2:189088934
|
TTTGA | T | 3 | a0001c0001t0001g0106a0001c0001t0001g0107a0007c0015t0001g0108 | 3 | HG01517.hp2 HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.568-166_568-163del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088934 | ||||||
| chr2:189088953
|
T | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-181A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088953 | ||||||
| chr2:189089032
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.568-260A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089032 | ||||||
| chr2:189089043
|
A | ATGGAT | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.568-276_568-272dup others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089043 | ||||||
| chr2:189089234
|
C | A | 39 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(36): Show | 39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.568-462G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089234 | ||||||
| chr2:189089278
|
T | C | 20 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(17): Show | 21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.568-506A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089278 | ||||||
| chr2:189089501
|
T | C | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.568-729A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089501 | ||||||
| chr2:189089515
|
A | G | 1 | a0001c0002t0002g0028 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.568-743T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089515 | ||||||
| chr2:189089556
|
T | A | 3 | a0001c0012t0010g0040a0001c0012t0010g0126a0001c0026t0015g0003 | 3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.568-784A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089556 | ||||||
| chr2:189089647
|
C | G | 2 | a0001c0002t0002g0029a0001c0002t0002g0037 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.568-875G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089647 | ||||||
| chr2:189089765
|
T | C | 28 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0002t0002g0016others(25): Show | 28 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.568-993A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089765 | ||||||
| chr2:189089777
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.568-1005C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089777 | ||||||
| chr2:189089924
|
A | T | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.568-1152T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089924 | ||||||
| chr2:189089944
|
TCAATTAA others(3): Show |
T | 1 | a0006c0009t0001g0019 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.568-1182_568-1173d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089944 | ||||||
| chr2:189090357
|
G | A | 1 | a0001c0002t0002g0238 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.568-1585C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090357 | ||||||
| chr2:189090400
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-1628T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090400 | ||||||
| chr2:189090479
|
G | A | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.568-1707C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090479 | ||||||
| chr2:189090529
|
T | C | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.568-1757A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090529 | ||||||
| chr2:189090620
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1690A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090620 | ||||||
| chr2:189090818
|
C | A | 1 | a0004c0013t0001g0113 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.567+1492G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090818 | ||||||
| chr2:189090838
|
G | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.567+1472C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090838 | ||||||
| chr2:189090958
|
G | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1352C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090958 | ||||||
| chr2:189090967
|
T | C | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.567+1343A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090967 | ||||||
| chr2:189090968
|
A | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1342T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090968 | ||||||
| chr2:189091404
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+906A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091404 | ||||||
| chr2:189091496
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+814A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091496 | ||||||
| chr2:189091603
|
C | A | 3 | a0001c0012t0010g0040a0001c0012t0010g0126a0001c0026t0015g0003 | 3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.567+707G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091603 | ||||||
| chr2:189091645
|
A | T | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.567+665T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091645 | ||||||
| chr2:189091784
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+526A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091784 | ||||||
| chr2:189091849
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.567+461T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091849 | ||||||
| chr2:189092035
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+275A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092035 | ||||||
| chr2:189092128
|
C | A | 42 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.567+182G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092128 | ||||||
| chr2:189092141
|
A | T | 1 | a0001c0001t0001g0079 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.567+169T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092141 | ||||||
| chr2:189092479
|
C | T | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.457-59G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092479 | ||||||
| chr2:189092745
|
G | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-325C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092745 | ||||||
| chr2:189092829
|
A | G | 1 | a0001c0001t0008g0220 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.457-409T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092829 | ||||||
| chr2:189092944
|
C | T | 5 | a0001c0001t0004g0043a0001c0001t0004g0081a0001c0001t0004g0149others(2): Show | 5 | HG00280.hp1 HG01975.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-524G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092944 | ||||||
| chr2:189092963
|
A | G | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.457-543T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092963 | ||||||
| chr2:189093023
|
A | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-603T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093023 | ||||||
| chr2:189093077
|
T | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-657A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093077 | ||||||
| chr2:189093084
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-664G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093084 | ||||||
| chr2:189093156
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-736G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093156 | ||||||
| chr2:189093251
|
T | C | 2 | a0001c0003t0001g0201a0001c0003t0001g0207 | 2 | NA18953.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.457-831A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093251 | ||||||
| chr2:189093324
|
T | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-904A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093324 | ||||||
| chr2:189093350
|
G | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-930C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093350 | ||||||
| chr2:189093407
|
G | T | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.457-987C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093407 | ||||||
| chr2:189093446
|
A | C | 2 | a0001c0001t0001g0076a0001c0001t0001g0085 | 2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.457-1026T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093446 | ||||||
| chr2:189093456
|
G | A | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-1036C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093456 | ||||||
| chr2:189093474
|
G | C | 10 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(7): Show | 10 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.457-1054C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093474 | ||||||
| chr2:189093479
|
A | C | 1 | a0001c0002t0009g0161 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.457-1059T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093479 | ||||||
| chr2:189093528
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-1108A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093528 | ||||||
| chr2:189093565
|
A | C | 1 | a0001c0001t0003g0232 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.457-1145T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093565 | ||||||
| chr2:189093622
|
A | G | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.457-1202T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093622 | ||||||
| chr2:189094025
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1605A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094025 | ||||||
| chr2:189094118
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.457-1698G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094118 | ||||||
| chr2:189094183
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1763G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094183 | ||||||
| chr2:189094361
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.457-1941C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094361 | ||||||
| chr2:189094366
|
C | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1946G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094366 | ||||||
| chr2:189094478
|
G | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-2058C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094478 | ||||||
| chr2:189094532
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.457-2112G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094532 | ||||||
| chr2:189094535
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.457-2115C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094535 | ||||||
| chr2:189094542
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-2122A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094542 | ||||||
| chr2:189094588
|
G | GAC | 9 | a0001c0001t0001g0055a0001c0001t0003g0152a0001c0001t0004g0081others(6): Show | 10 | HG01884.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.457-2170_457-2169d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACAC | 8 | a0001c0001t0003g0224a0001c0001t0003g0225a0001c0001t0008g0220others(5): Show | 8 | HG01081.hp2 HG02109.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.457-2172_457-2169d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACAC | 12 | a0001c0001t0003g0226a0001c0001t0025g0243a0001c0002t0002g0025others(9): Show | 12 | HG01192.hp2 HG02258.hp2 HG02293.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2174_457-2169d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(1): Show |
7 | a0001c0001t0001g0030a0001c0001t0003g0186a0001c0002t0002g0036others(4): Show | 7 | HG00597.hp1 HG04228.hp1 NA18969.hp2 others(4): Show |
intron_variant | MODIFIER | c.457-2176_457-2169d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(3): Show |
12 | a0001c0001t0001g0105a0001c0001t0003g0178a0001c0001t0008g0240others(9): Show | 12 | HG01069.hp1 HG01106.hp1 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2178_457-2169d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(5): Show |
5 | a0001c0001t0003g0135a0001c0001t0003g0185a0001c0001t0003g0232others(2): Show | 5 | HG01255.hp1 HG01978.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2180_457-2169d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(7): Show |
19 | a0001c0001t0001g0004a0001c0001t0001g0044a0001c0001t0001g0133others(16): Show | 19 | HG00408.hp1 HG00423.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.457-2182_457-2169d others(16): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(9): Show |
14 | a0001c0001t0001g0078a0001c0001t0001g0100a0001c0001t0003g0179others(11): Show | 14 | HG00609.hp2 HG02293.hp2 HG03688.hp1 others(11): Show |
intron_variant | MODIFIER | c.457-2184_457-2169d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(11): Show |
6 | a0001c0001t0003g0045a0001c0001t0003g0127a0001c0001t0003g0128others(3): Show | 6 | HG01106.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-2186_457-2169d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(13): Show |
3 | a0001c0001t0001g0122a0001c0001t0001g0137a0015c0022t0002g0035 | 3 | HG03834.hp2 NA18612.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.457-2188_457-2169d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(15): Show |
5 | a0001c0001t0003g0181a0001c0001t0023g0009a0001c0003t0001g0203others(2): Show | 5 | HG01981.hp1 HG04199.hp1 NA18984.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2190_457-2169d others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(17): Show |
1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.457-2192_457-2169d others(26): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(21): Show |
9 | a0001c0001t0001g0018a0001c0001t0001g0063a0001c0001t0001g0067others(6): Show | 9 | HG00099.hp1 HG00099.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2196_457-2169d others(30): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(23): Show |
5 | a0001c0001t0001g0070a0001c0001t0001g0107a0001c0007t0005g0006others(2): Show | 5 | HG01517.hp2 HG02258.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-2198_457-2169d others(32): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(25): Show |
6 | a0001c0001t0001g0010a0001c0001t0001g0053a0001c0001t0001g0064others(3): Show | 6 | HG00408.hp2 HG01192.hp1 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-2200_457-2169d others(34): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(27): Show |
4 | a0001c0001t0001g0015a0001c0001t0001g0050a0001c0001t0001g0087others(1): Show | 4 | HG03041.hp2 HG03688.hp2 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-2202_457-2169d others(36): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(29): Show |
13 | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0084others(10): Show | 13 | HG01081.hp1 HG01255.hp2 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.457-2204_457-2169d others(38): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(31): Show |
9 | a0001c0001t0001g0041a0001c0001t0001g0074a0001c0001t0001g0098others(6): Show | 9 | HG00597.hp2 HG01069.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.457-2206_457-2169d others(40): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(33): Show |
9 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0032others(6): Show | 9 | HG00423.hp1 HG01258.hp1 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2208_457-2169d others(42): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(35): Show |
9 | a0001c0001t0001g0066a0001c0001t0001g0069a0001c0001t0001g0090others(6): Show | 9 | HG00280.hp2 HG00621.hp1 HG02165.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2210_457-2169d others(44): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(37): Show |
10 | a0001c0001t0001g0014a0001c0001t0001g0046a0001c0001t0001g0047others(7): Show | 10 | HG00609.hp1 HG01978.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.457-2212_457-2169d others(46): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(39): Show |
4 | a0001c0001t0001g0089a0001c0001t0001g0102a0001c0001t0001g0110others(1): Show | 4 | HG02683.hp1 NA18941.hp2 NA18961.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-2214_457-2169d others(48): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(41): Show |
4 | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0002t0002g0059others(1): Show | 4 | HG03831.hp2 NA18940.hp1 NA18992.hp2 others(1): Show |
intron_variant | MODIFIER | c.457-2216_457-2169d others(50): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(43): Show |
3 | a0001c0001t0001g0091a0001c0001t0001g0111a0006c0009t0001g0027 | 3 | HG01433.hp2 NA18972.hp2 NA19006.hp2 |
intron_variant | MODIFIER | c.457-2218_457-2169d others(52): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(45): Show |
5 | a0001c0001t0001g0042a0001c0001t0001g0073a0001c0001t0001g0088others(2): Show | 5 | HG00621.hp2 HG02074.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2220_457-2169d others(54): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(47): Show |
1 | a0001c0001t0001g0095 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.457-2222_457-2169d others(56): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(51): Show |
2 | a0001c0001t0001g0209a0003c0014t0001g0120 | 2 | HG01169.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.457-2226_457-2169d others(60): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(53): Show |
1 | a0001c0001t0001g0233 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.457-2169_457-2168i others(62): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
G | GACACACA others(55): Show |
2 | a0001c0001t0001g0048a0001c0001t0001g0051 | 2 | HG01167.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.457-2169_457-2168i others(64): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GAC | G | 12 | a0001c0001t0004g0005a0001c0002t0002g0023a0001c0003t0001g0191others(9): Show | 12 | HG02056.hp1 HG02074.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2170_457-2169d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACAC | G | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0008g0236others(4): Show | 7 | HG02486.hp2 HG03195.hp1 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.457-2172_457-2169d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACACAC | G | 3 | a0001c0002t0002g0021a0001c0002t0014g0244a0001c0004t0001g0160 | 3 | HG03942.hp1 NA18522.hp2 NA18960.hp1 |
intron_variant | MODIFIER | c.457-2174_457-2169d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACACACA others(1): Show |
G | 3 | a0001c0001t0004g0221a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG01975.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.457-2176_457-2169d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACACACA others(5): Show |
G | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.457-2180_457-2169d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACACACA others(11): Show |
G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-2186_457-2169d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094588
|
GACACACA others(13): Show |
G | 1 | a0001c0021t0002g0142 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.457-2188_457-2169d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | ||||||
| chr2:189094646
|
C | CACACACA others(41): Show |
1 | a0001c0001t0001g0026 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.457-2227_457-2226i others(50): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094646 | ||||||
| chr2:189094695
|
C | CAAGAAAC others(302): Show |
1 | a0001c0001t0001g0112 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.457-2276_457-2275i others(311): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094695 | ||||||
| chr2:189094695
|
C | CAAGAAAC others(303): Show |
98 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.457-2276_457-2275i others(312): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094695 | ||||||
| chr2:189094749
|
C | A | 1 | a0001c0001t0001g0069 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.457-2329G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094749 | ||||||
| chr2:189094997
|
C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.456+2280G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094997 | ||||||
| chr2:189095155
|
T | TG | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+2121dupC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095155 | ||||||
| chr2:189095221
|
G | A | 39 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(36): Show | 39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.456+2056C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095221 | ||||||
| chr2:189095439
|
T | C | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.456+1838A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095439 | ||||||
| chr2:189095492
|
GCT | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.456+1783_456+1784d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095492 | ||||||
| chr2:189095531
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1746T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095531 | ||||||
| chr2:189095603
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1674T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095603 | ||||||
| chr2:189095779
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.456+1498G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095779 | ||||||
| chr2:189095833
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1444A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095833 | ||||||
| chr2:189095844
|
G | C | 44 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(41): Show | 44 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.456+1433C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095844 | ||||||
| chr2:189095904
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.456+1373G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095904 | ||||||
| chr2:189095967
|
TG | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1309delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095967 | ||||||
| chr2:189096305
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+972G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096305 | ||||||
| chr2:189096361
|
A | G | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.456+916T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096361 | ||||||
| chr2:189096413
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.456+864C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096413 | ||||||
| chr2:189096437
|
C | T | 6 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(3): Show | 6 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.456+840G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096437 | ||||||
| chr2:189096445
|
A | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+832T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096445 | ||||||
| chr2:189096499
|
G | C | 1 | a0001c0003t0001g0208 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.456+778C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096499 | ||||||
| chr2:189096518
|
A | G | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.456+759T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096518 | ||||||
| chr2:189096529
|
G | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+748C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096529 | ||||||
| chr2:189096621
|
C | CA | 40 | a0001c0001t0001g0044a0001c0001t0001g0087a0001c0001t0001g0112others(37): Show | 40 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.456+655dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096621 | ||||||
| chr2:189096621
|
C | CAAA | 38 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(35): Show | 38 | HG00280.hp1 HG01106.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.456+653_456+655dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096621 | ||||||
| chr2:189096866
|
G | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+411C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096866 | ||||||
| chr2:189097045
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+232G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189097045 | ||||||
| chr2:189097346
|
A | T | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.403-16T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097346 | ||||||
| chr2:189097372
|
T | C | 37 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.403-42A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097372 | ||||||
| chr2:189097473
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.403-143T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097473 | ||||||
| chr2:189097580
|
G | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.403-250C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097580 | ||||||
| chr2:189097622
|
G | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.403-292C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097622 | ||||||
| chr2:189097634
|
C | T | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.403-304G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097634 | ||||||
| chr2:189097832
|
T | G | 42 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.403-502A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097832 | ||||||
| chr2:189097916
|
T | C | 1 | a0001c0002t0002g0025 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.403-586A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097916 | ||||||
| chr2:189097918
|
T | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.403-588A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097918 | ||||||
| chr2:189097976
|
A | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.403-646T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097976 | ||||||
| chr2:189098004
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.403-674C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098004 | ||||||
| chr2:189098032
|
T | TCCCC | 3 | a0001c0001t0004g0005a0001c0001t0004g0081a0011c0023t0004g0117 | 3 | HG02258.hp2 HG02630.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.402+694_402+695ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098032 | ||||||
| chr2:189098033
|
T | C | 5 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(2): Show | 5 | HG02258.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.402+694A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | ||||||
| chr2:189098033
|
T | TCC | 23 | a0001c0001t0001g0030a0001c0002t0002g0016a0001c0002t0002g0024others(20): Show | 23 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(20): Show |
intron_variant | MODIFIER | c.402+693_402+694ins others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | ||||||
| chr2:189098033
|
T | TCCC | 9 | a0001c0001t0001g0163a0001c0001t0004g0149a0001c0001t0004g0193others(6): Show | 9 | HG00280.hp1 HG01192.hp2 HG01975.hp1 others(6): Show |
intron_variant | MODIFIER | c.402+693_402+694ins others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | ||||||
| chr2:189098034
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+693A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098034 | ||||||
| chr2:189098035
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+692A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098035 | ||||||
| chr2:189098043
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+684A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098043 | ||||||
| chr2:189098051
|
G | A | 1 | a0001c0001t0003g0183 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.402+676C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098051 | ||||||
| chr2:189098196
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+531T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098196 | ||||||
| chr2:189098390
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.402+337G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098390 | ||||||
| chr2:189098563
|
C | T | 1 | a0008c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.402+164G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098563 | ||||||
| chr2:189098775
|
G | A | 2 | a0001c0001t0001g0012a0001c0001t0001g0048 | 2 | HG01167.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.370-16C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189098775 | ||||||
| chr2:189099060
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.370-301G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099060 | ||||||
| chr2:189099075
|
T | C | 1 | a0001c0001t0001g0053 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.370-316A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099075 | ||||||
| chr2:189099268
|
T | TA | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.370-510dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099268 | ||||||
| chr2:189099407
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.370-648A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099407 | ||||||
| chr2:189099500
|
C | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+607G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099500 | ||||||
| chr2:189099653
|
C | A | 1 | a0001c0001t0007g0057 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.369+454G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099653 | ||||||
| chr2:189099663
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+444G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099663 | ||||||
| chr2:189099669
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+438A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099669 | ||||||
| chr2:189099699
|
A | G | 1 | a0008c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.369+408T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099699 | ||||||
| chr2:189099940
|
T | A | 4 | a0001c0001t0003g0152a0001c0001t0003g0224a0001c0001t0003g0225others(1): Show | 4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.369+167A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099940 | ||||||
| chr2:189100021
|
G | T | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+86C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189100021 | ||||||
| chr2:189100027
|
A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.369+80T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189100027 | ||||||
| chr2:189100165
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-26T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100165 | ||||||
| chr2:189100244
|
T | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-105A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100244 | ||||||
| chr2:189100291
|
G | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-152C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100291 | ||||||
| chr2:189100344
|
T | TA | 3 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0124 | 6 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.337-206dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100344 | ||||||
| chr2:189100449
|
T | C | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-310A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100449 | ||||||
| chr2:189100494
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.337-355G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100494 | ||||||
| chr2:189100606
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.337-467A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100606 | ||||||
| chr2:189101054
|
T | A | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.337-915A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101054 | ||||||
| chr2:189101094
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.337-955T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101094 | ||||||
| chr2:189101162
|
A | G | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.337-1023T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101162 | ||||||
| chr2:189101330
|
T | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1191A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101330 | ||||||
| chr2:189101500
|
T | C | 4 | a0001c0001t0001g0042a0001c0001t0001g0054a0001c0001t0001g0095others(1): Show | 4 | HG00621.hp2 HG01975.hp2 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.337-1361A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101500 | ||||||
| chr2:189101537
|
T | A | 1 | a0001c0003t0001g0190 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.337-1398A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101537 | ||||||
| chr2:189101628
|
A | T | 20 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(17): Show | 21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.337-1489T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101628 | ||||||
| chr2:189101740
|
T | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1601A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101740 | ||||||
| chr2:189101758
|
T | C | 29 | a0001c0001t0001g0030a0001c0002t0002g0016a0001c0002t0002g0020others(26): Show | 29 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(26): Show |
intron_variant | MODIFIER | c.337-1619A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101758 | ||||||
| chr2:189101765
|
A | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1626T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101765 | ||||||
| chr2:189101842
|
T | C | 3 | a0001c0002t0009g0143a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.337-1703A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101842 | ||||||
| chr2:189101982
|
T | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.337-1843A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101982 | ||||||
| chr2:189102081
|
T | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-1942A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102081 | ||||||
| chr2:189102517
|
C | T | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.336+1747G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102517 | ||||||
| chr2:189102707
|
T | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1557A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102707 | ||||||
| chr2:189102730
|
A | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1534T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102730 | ||||||
| chr2:189102740
|
G | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1524C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102740 | ||||||
| chr2:189102770
|
C | T | 2 | a0001c0002t0020g0038a0015c0022t0002g0035 | 2 | NA18612.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.336+1494G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102770 | ||||||
| chr2:189102802
|
G | T | 38 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0163others(35): Show | 38 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.336+1462C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102802 | ||||||
| chr2:189102910
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.336+1354G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102910 | ||||||
| chr2:189102976
|
G | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1288C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102976 | ||||||
| chr2:189102978
|
G | A | 26 | a0001c0003t0001g0150a0001c0003t0001g0164a0001c0003t0001g0175others(23): Show | 26 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.336+1286C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102978 | ||||||
| chr2:189103074
|
A | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.336+1190T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103074 | ||||||
| chr2:189103108
|
CTCTA | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1152_336+1155d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103108 | ||||||
| chr2:189103221
|
C | T | 1 | a0001c0001t0003g0210 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.336+1043G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103221 | ||||||
| chr2:189103385
|
T | C | 3 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.336+879A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103385 | ||||||
| chr2:189103449
|
G | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+815C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103449 | ||||||
| chr2:189103493
|
G | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+771C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103493 | ||||||
| chr2:189103495
|
C | G | 1 | a0001c0001t0001g0064 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.336+769G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103495 | ||||||
| chr2:189103505
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.336+759C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103505 | ||||||
| chr2:189103528
|
C | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+736G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103528 | ||||||
| chr2:189103534
|
T | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+730A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103534 | ||||||
| chr2:189103591
|
A | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.336+673T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103591 | ||||||
| chr2:189103621
|
G | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+643C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103621 | ||||||
| chr2:189103626
|
C | G | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+638G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103626 | ||||||
| chr2:189103853
|
G | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+411C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103853 | ||||||
| chr2:189103924
|
C | T | 38 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(35): Show | 38 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.336+340G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103924 | ||||||
| chr2:189104048
|
T | C | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.336+216A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104048 | ||||||
| chr2:189104082
|
TA | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+181delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104082 | ||||||
| chr2:189104124
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.336+140G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104124 | ||||||
| chr2:189104348
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.323-71A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104348 | ||||||
| chr2:189104408
|
G | T | 1 | a0001c0001t0001g0163 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.323-131C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104408 | ||||||
| chr2:189104666
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-389T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104666 | ||||||
| chr2:189104732
|
C | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.323-455G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104732 | ||||||
| chr2:189104863
|
T | A | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.323-586A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104863 | ||||||
| chr2:189104881
|
T | A | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.323-604A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104881 | ||||||
| chr2:189105080
|
T | C | 1 | a0001c0004t0001g0217 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.323-803A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105080 | ||||||
| chr2:189105127
|
A | G | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-850T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105127 | ||||||
| chr2:189105193
|
T | A | 43 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-916A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105193 | ||||||
| chr2:189105269
|
T | C | 1 | a0010c0024t0004g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.323-992A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105269 | ||||||
| chr2:189105289
|
C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.323-1012G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105289 | ||||||
| chr2:189105693
|
T | C | 5 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(2): Show | 5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.323-1416A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105693 | ||||||
| chr2:189105845
|
T | C | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.323-1568A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105845 | ||||||
| chr2:189105894
|
G | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-1617C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105894 | ||||||
| chr2:189105928
|
C | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-1651G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105928 | ||||||
| chr2:189105957
|
C | T | 1 | a0001c0004t0001g0177 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.323-1680G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105957 | ||||||
| chr2:189106267
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.323-1990G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106267 | ||||||
| chr2:189106314
|
G | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0055others(86): Show | 93 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.323-2037C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106314 | ||||||
| chr2:189106530
|
T | C | 20 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(17): Show | 21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.323-2253A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106530 | ||||||
| chr2:189106570
|
G | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-2293C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106570 | ||||||
| chr2:189106572
|
G | T | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.323-2295C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106572 | ||||||
| chr2:189106717
|
TTTAAG | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-2445_323-2441d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106717 | ||||||
| chr2:189106772
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.323-2495A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106772 | ||||||
| chr2:189107120
|
A | G | 38 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0163others(35): Show | 38 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.323-2843T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107120 | ||||||
| chr2:189107144
|
A | G | 1 | a0001c0001t0003g0166 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.323-2867T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107144 | ||||||
| chr2:189107147
|
T | C | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.323-2870A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107147 | ||||||
| chr2:189107508
|
C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+2717G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107508 | ||||||
| chr2:189107716
|
CTTTG | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+2505_322+2508d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107716 | ||||||
| chr2:189107756
|
T | G | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.322+2469A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107756 | ||||||
| chr2:189108220
|
A | G | 8 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0007t0005g0006others(5): Show | 8 | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.322+2005T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108220 | ||||||
| chr2:189108263
|
C | T | 8 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0007t0005g0006others(5): Show | 8 | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.322+1962G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108263 | ||||||
| chr2:189108325
|
C | A | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1900G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108325 | ||||||
| chr2:189108413
|
A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+1812T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108413 | ||||||
| chr2:189108441
|
T | C | 1 | a0004c0013t0001g0114 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.322+1784A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108441 | ||||||
| chr2:189108738
|
C | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1487G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108738 | ||||||
| chr2:189108782
|
A | G | 1 | a0010c0024t0004g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.322+1443T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108782 | ||||||
| chr2:189108857
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+1368G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108857 | ||||||
| chr2:189108932
|
T | C | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1293A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108932 | ||||||
| chr2:189108969
|
G | GT | 41 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0163others(38): Show | 41 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.322+1255dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | ||||||
| chr2:189108969
|
GT | G | 109 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(106): Show | 109 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.322+1255delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | ||||||
| chr2:189108969
|
GTT | G | 41 | a0001c0001t0001g0030a0001c0001t0001g0095a0001c0001t0004g0005others(38): Show | 41 | HG00597.hp1 HG01081.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.322+1254_322+1255d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | ||||||
| chr2:189108993
|
G | A | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0012c0018t0012g0148 | 3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.322+1232C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108993 | ||||||
| chr2:189109207
|
C | A | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.322+1018G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109207 | ||||||
| chr2:189109378
|
G | C | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.322+847C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109378 | ||||||
| chr2:189109531
|
T | G | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.322+694A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109531 | ||||||
| chr2:189109623
|
C | G | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.322+602G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109623 | ||||||
| chr2:189110048
|
G | A | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.322+177C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189110048 | ||||||
| chr2:189110068
|
G | A | 151 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(148): Show |
intron_variant | MODIFIER | c.322+157C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189110068 | ||||||
| chr2:189110461
|
A | C | 21 | a0001c0003t0001g0150a0001c0003t0001g0164a0001c0003t0001g0175others(18): Show | 21 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.98-12T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110461 | ||||||
| chr2:189110624
|
G | A | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.98-175C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110624 | ||||||
| chr2:189110680
|
G | A | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-231C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110680 | ||||||
| chr2:189110689
|
T | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-240A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110689 | ||||||
| chr2:189110997
|
C | A | 1 | a0001c0001t0003g0166 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.98-548G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110997 | ||||||
| chr2:189111016
|
GTAGAATT others(8): Show |
G | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-582_98-568delTC others(13): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111016 | ||||||
| chr2:189111036
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-587G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111036 | ||||||
| chr2:189111064
|
G | T | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-615C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111064 | ||||||
| chr2:189111206
|
G | A | 1 | a0002c0006t0005g0131 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.98-757C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111206 | ||||||
| chr2:189111225
|
CAT | C | 41 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(38): Show | 41 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.98-778_98-777delAT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111225 | ||||||
| chr2:189111229
|
T | C | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.98-780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111229 | ||||||
| chr2:189111232
|
A | ATG | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-785_98-784dupCA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111232 | ||||||
| chr2:189111232
|
A | G | 101 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.98-783T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111232 | ||||||
| chr2:189111264
|
A | G | 4 | a0002c0006t0005g0131a0002c0006t0005g0132a0002c0006t0017g0136others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-815T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111264 | ||||||
| chr2:189111317
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-868G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111317 | ||||||
| chr2:189111495
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.98-1046G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111495 | ||||||
| chr2:189111505
|
T | G | 2 | a0001c0001t0003g0166a0001c0001t0003g0167 | 2 | HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.98-1056A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111505 | ||||||
| chr2:189111555
|
C | T | 5 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(2): Show | 5 | HG01884.hp1 HG02895.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.98-1106G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111555 | ||||||
| chr2:189111581
|
C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-1132G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111581 | ||||||
| chr2:189111588
|
T | TA | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-1140dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111588 | ||||||
| chr2:189111777
|
T | A | 3 | a0001c0001t0001g0079a0001c0001t0001g0094a0001c0001t0001g0115 | 3 | HG00423.hp1 HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.98-1328A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111777 | ||||||
| chr2:189111828
|
G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-1379C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111828 | ||||||
| chr2:189111863
|
C | CT | 41 | a0001c0001t0001g0030a0001c0001t0001g0163a0001c0001t0004g0005others(38): Show | 41 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(38): Show |
intron_variant | MODIFIER | c.98-1415dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111863 | ||||||
| chr2:189111875
|
T | C | 1 | a0001c0003t0001g0203 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.98-1426A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111875 | ||||||
| chr2:189111903
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-1454A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111903 | ||||||
| chr2:189111917
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-1468C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111917 | ||||||
| chr2:189112037
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-1588A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112037 | ||||||
| chr2:189112153
|
G | A | 7 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0230others(4): Show | 7 | HG02145.hp1 HG02630.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.98-1704C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112153 | ||||||
| chr2:189112251
|
C | T | 42 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(39): Show | 42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.98-1802G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112251 | ||||||
| chr2:189112459
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-2010A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112459 | ||||||
| chr2:189112554
|
C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-2105G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112554 | ||||||
| chr2:189112671
|
T | C | 1 | a0001c0002t0002g0025 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.98-2222A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112671 | ||||||
| chr2:189112738
|
C | T | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-2289G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112738 | ||||||
| chr2:189113291
|
C | T | 217 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.98-2842G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113291 | ||||||
| chr2:189113322
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-2873G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113322 | ||||||
| chr2:189113395
|
T | C | 2 | a0001c0001t0001g0094a0001c0001t0001g0115 | 2 | HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.98-2946A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113395 | ||||||
| chr2:189113570
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-3121C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113570 | ||||||
| chr2:189113585
|
T | C | 1 | a0001c0004t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-3136A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113585 | ||||||
| chr2:189113766
|
A | AT | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-3318dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113766 | ||||||
| chr2:189113804
|
A | G | 1 | a0001c0001t0003g0183 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.98-3355T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113804 | ||||||
| chr2:189113878
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-3429A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113878 | ||||||
| chr2:189113933
|
C | G | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.98-3484G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113933 | ||||||
| chr2:189113977
|
G | A | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.98-3528C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113977 | ||||||
| chr2:189114055
|
GGTTA | G | 18 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(15): Show | 19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.98-3610_98-3607del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114055 | ||||||
| chr2:189114121
|
T | C | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.98-3672A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114121 | ||||||
| chr2:189114199
|
C | T | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-3750G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114199 | ||||||
| chr2:189114314
|
G | C | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-3865C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114314 | ||||||
| chr2:189114346
|
A | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-3897T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114346 | ||||||
| chr2:189114357
|
A | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-3908T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114357 | ||||||
| chr2:189114456
|
T | C | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-4007A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114456 | ||||||
| chr2:189114601
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-4152C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114601 | ||||||
| chr2:189114630
|
T | TA | 4 | a0001c0026t0015g0003a0002c0006t0005g0131a0002c0006t0005g0132others(1): Show | 4 | HG01069.hp1 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-4182_98-4181ins others(1): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114630 | ||||||
| chr2:189114631
|
T | A | 41 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0001t0004g0081others(38): Show | 41 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.98-4182A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | ||||||
| chr2:189114631
|
T | TA | 20 | a0001c0002t0009g0143a0001c0004t0001g0002a0001c0004t0001g0056others(17): Show | 21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.98-4183dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | ||||||
| chr2:189114631
|
T | TAAA | 35 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0163others(32): Show | 35 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(32): Show |
intron_variant | MODIFIER | c.98-4185_98-4183dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | ||||||
| chr2:189114631
|
TA | T | 6 | a0001c0003t0001g0189a0001c0003t0001g0190a0001c0003t0001g0191others(3): Show | 6 | HG01167.hp2 HG01257.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.98-4183delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | ||||||
| chr2:189114649
|
AT | A | 10 | a0001c0001t0001g0049a0001c0001t0001g0076a0001c0001t0001g0085others(7): Show | 10 | HG01516.hp2 HG01975.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.98-4201delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114649 | ||||||
| chr2:189114650
|
T | A | 132 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.98-4201A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114650 | ||||||
| chr2:189114704
|
G | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-4255C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114704 | ||||||
| chr2:189114776
|
C | T | 43 | a0001c0001t0001g0030a0001c0001t0004g0005a0001c0001t0004g0043others(40): Show | 43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-4327G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114776 | ||||||
| chr2:189114931
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.98-4482A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114931 | ||||||
| chr2:189114994
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-4545C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114994 | ||||||
| chr2:189115210
|
T | C | 38 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(35): Show | 38 | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.98-4761A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115210 | ||||||
| chr2:189115407
|
G | GA | 6 | a0001c0001t0004g0005a0001c0001t0004g0043a0001c0002t0002g0020others(3): Show | 6 | HG02258.hp2 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-4959dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | ||||||
| chr2:189115407
|
G | GAA | 13 | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0046others(10): Show | 13 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.98-4960_98-4959dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | ||||||
| chr2:189115407
|
GA | G | 60 | a0001c0001t0001g0066a0001c0001t0001g0091a0001c0001t0001g0209others(57): Show | 60 | HG00280.hp1 HG00408.hp1 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.98-4959delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | ||||||
| chr2:189115411
|
A | G | 1 | a0001c0001t0003g0227 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.98-4962T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115411 | ||||||
| chr2:189115468
|
G | A | 1 | a0001c0001t0004g0193 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.98-5019C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115468 | ||||||
| chr2:189115575
|
G | C | 6 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0004t0006g0153others(3): Show | 6 | HG01069.hp1 HG01884.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-5126C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115575 | ||||||
| chr2:189115763
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.98-5314C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115763 | ||||||
| chr2:189115765
|
A | G | 1 | a0001c0002t0014g0242 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.98-5316T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115765 | ||||||
| chr2:189116183
|
C | T | 1 | a0001c0001t0001g0047 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.98-5734G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116183 | ||||||
| chr2:189116237
|
C | T | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.98-5788G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116237 | ||||||
| chr2:189116294
|
G | A | 2 | a0001c0001t0001g0010a0001c0001t0023g0009 | 2 | NA19057.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.98-5845C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116294 | ||||||
| chr2:189116353
|
T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-5904A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116353 | ||||||
| chr2:189116486
|
G | T | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-6037C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116486 | ||||||
| chr2:189116702
|
G | C | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-6253C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116702 | ||||||
| chr2:189116793
|
C | G | 1 | a0001c0001t0001g0096 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.98-6344G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116793 | ||||||
| chr2:189117007
|
T | C | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-6558A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117007 | ||||||
| chr2:189117112
|
A | AC | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-6664_98-6663ins others(1): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117112 | ||||||
| chr2:189117191
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-6742C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117191 | ||||||
| chr2:189117211
|
C | A | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.98-6762G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117211 | ||||||
| chr2:189117264
|
T | G | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-6815A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117264 | ||||||
| chr2:189117269
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-6820A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117269 | ||||||
| chr2:189117410
|
A | G | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-6961T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117410 | ||||||
| chr2:189117470
|
T | C | 1 | a0001c0001t0001g0157 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.98-7021A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117470 | ||||||
| chr2:189117487
|
G | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-7038C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117487 | ||||||
| chr2:189117692
|
C | T | 113 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(110): Show | 117 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(114): Show |
intron_variant | MODIFIER | c.98-7243G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117692 | ||||||
| chr2:189117732
|
CT | C | 35 | a0001c0001t0001g0209a0001c0001t0004g0149a0001c0001t0004g0221others(32): Show | 35 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(32): Show |
intron_variant | MODIFIER | c.98-7284delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117732 | ||||||
| chr2:189117732
|
CTTT | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-7286_98-7284del others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117732 | ||||||
| chr2:189117979
|
T | A | 1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.98-7530A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117979 | ||||||
| chr2:189118102
|
C | T | 3 | a0001c0002t0002g0138a0001c0002t0002g0141a0001c0021t0002g0142 | 3 | NA18984.hp1 NA19007.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.98-7653G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118102 | ||||||
| chr2:189118271
|
T | C | 1 | a0001c0010t0001g0101 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.98-7822A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118271 | ||||||
| chr2:189118678
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-8229G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118678 | ||||||
| chr2:189118752
|
C | T | 4 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043others(1): Show | 4 | HG02630.hp1 HG02630.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-8303G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118752 | ||||||
| chr2:189118785
|
T | G | 1 | a0001c0001t0001g0062 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.98-8336A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118785 | ||||||
| chr2:189118942
|
TA | T | 235 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(232): Show | 239 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(236): Show |
intron_variant | MODIFIER | c.98-8494delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118942 | ||||||
| chr2:189119022
|
C | T | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-8573G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119022 | ||||||
| chr2:189119059
|
T | G | 10 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(7): Show | 10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.98-8610A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119059 | ||||||
| chr2:189119451
|
T | C | 26 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(23): Show | 26 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(23): Show |
intron_variant | MODIFIER | c.98-9002A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119451 | ||||||
| chr2:189119472
|
C | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-9023G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119472 | ||||||
| chr2:189119601
|
A | G | 2 | a0001c0001t0001g0042a0001c0001t0001g0095 | 2 | HG00621.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.98-9152T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119601 | ||||||
| chr2:189120143
|
A | G | 150 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(147): Show | 154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.98-9694T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120143 | ||||||
| chr2:189120225
|
T | C | 1 | a0001c0010t0001g0101 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.98-9776A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120225 | ||||||
| chr2:189120345
|
A | G | 3 | a0001c0002t0002g0025a0001c0002t0002g0237a0001c0002t0002g0238 | 3 | HG03688.hp1 HG03704.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.98-9896T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120345 | ||||||
| chr2:189120535
|
T | C | 151 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(148): Show | 155 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.98-10086A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120535 | ||||||
| chr2:189121010
|
G | A | 1 | a0008c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.98-10561C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121010 | ||||||
| chr2:189121053
|
T | TTAGAACA others(311): Show |
1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-10605_98-10604i others(320): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121053 | ||||||
| chr2:189121105
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-10656C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121105 | ||||||
| chr2:189121120
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-10671C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121120 | ||||||
| chr2:189121298
|
T | G | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-10849A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121298 | ||||||
| chr2:189121481
|
T | C | 11 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(8): Show | 11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-11032A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121481 | ||||||
| chr2:189121736
|
C | CAAAA | 95 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(92): Show | 96 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.98-11291_98-11288d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | ||||||
| chr2:189121736
|
C | CAAAAA | 46 | a0001c0001t0001g0012a0001c0001t0001g0042a0001c0001t0001g0044others(43): Show | 46 | HG00609.hp1 HG00621.hp2 HG01106.hp2 others(43): Show |
intron_variant | MODIFIER | c.98-11292_98-11288d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | ||||||
| chr2:189121736
|
CA | C | 63 | a0001c0001t0001g0004a0001c0001t0001g0146a0001c0001t0001g0147others(60): Show | 63 | HG00408.hp1 HG01106.hp1 HG01167.hp2 others(60): Show |
intron_variant | MODIFIER | c.98-11288delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | ||||||
| chr2:189121736
|
CAA | C | 7 | a0001c0001t0001g0055a0001c0001t0001g0144a0001c0001t0001g0192others(4): Show | 7 | HG01884.hp2 HG02145.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.98-11289_98-11288d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | ||||||
| chr2:189121736
|
CAAA | C | 3 | a0001c0001t0001g0001a0001c0001t0001g0062a0001c0001t0001g0124 | 6 | HG02280.hp1 HG02622.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-11290_98-11288d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | ||||||
| chr2:189121797
|
T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-11348A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121797 | ||||||
| chr2:189122343
|
G | A | 162 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(159): Show | 166 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.98-11894C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122343 | ||||||
| chr2:189122677
|
T | C | 150 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(147): Show | 154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.98-12228A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122677 | ||||||
| chr2:189122818
|
A | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-12369T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122818 | ||||||
| chr2:189122832
|
G | A | 2 | a0001c0004t0006g0153a0001c0004t0018g0129 | 2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.98-12383C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122832 | ||||||
| chr2:189122969
|
A | AT | 23 | a0001c0001t0001g0144a0001c0001t0001g0163a0001c0001t0003g0178others(20): Show | 23 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(20): Show |
intron_variant | MODIFIER | c.98-12521dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122969 | ||||||
| chr2:189122969
|
AT | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-12521delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122969 | ||||||
| chr2:189123043
|
C | T | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.98-12594G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123043 | ||||||
| chr2:189123183
|
C | G | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-12734G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123183 | ||||||
| chr2:189123255
|
C | T | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-12806G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123255 | ||||||
| chr2:189123626
|
G | A | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-13177C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123626 | ||||||
| chr2:189123699
|
G | C | 2 | a0001c0003t0001g0175a0001c0003t0001g0206 | 2 | NA18940.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.98-13250C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123699 | ||||||
| chr2:189123830
|
G | A | 238 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(235): Show | 242 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.98-13381C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123830 | ||||||
| chr2:189123863
|
G | C | 25 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(22): Show | 25 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.98-13414C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123863 | ||||||
| chr2:189124186
|
T | C | 20 | a0001c0001t0001g0163a0001c0001t0003g0178a0001c0001t0003g0179others(17): Show | 20 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(17): Show |
intron_variant | MODIFIER | c.98-13737A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124186 | ||||||
| chr2:189124338
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-13889C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124338 | ||||||
| chr2:189124456
|
G | A | 1 | a0001c0001t0003g0185 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.98-14007C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124456 | ||||||
| chr2:189124577
|
C | T | 150 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(147): Show | 154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.98-14128G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124577 | ||||||
| chr2:189124592
|
A | T | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-14143T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124592 | ||||||
| chr2:189124617
|
A | G | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.98-14168T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124617 | ||||||
| chr2:189124732
|
CT | C | 11 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0071others(8): Show | 11 | HG01069.hp1 HG01069.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.98-14284delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124732 | ||||||
| chr2:189124789
|
C | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-14340G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124789 | ||||||
| chr2:189124976
|
C | T | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.98-14527G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124976 | ||||||
| chr2:189124987
|
G | A | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-14538C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124987 | ||||||
| chr2:189125196
|
C | T | 1 | a0001c0027t0001g0195 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.98-14747G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125196 | ||||||
| chr2:189125200
|
C | T | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-14751G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125200 | ||||||
| chr2:189125288
|
G | C | 25 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(22): Show | 25 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.98-14839C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125288 | ||||||
| chr2:189125292
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.98-14843T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125292 | ||||||
| chr2:189125417
|
A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-14968T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125417 | ||||||
| chr2:189125421
|
A | G | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-14972T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125421 | ||||||
| chr2:189125472
|
G | A | 2 | a0001c0003t0001g0189a0001c0003t0001g0191 | 2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.98-15023C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125472 | ||||||
| chr2:189125578
|
C | T | 73 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(70): Show | 73 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.98-15129G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125578 | ||||||
| chr2:189125603
|
A | T | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-15154T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125603 | ||||||
| chr2:189125729
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-15280C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125729 | ||||||
| chr2:189125946
|
C | T | 30 | a0001c0001t0001g0209a0001c0001t0004g0149a0001c0001t0004g0193others(27): Show | 30 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.98-15497G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125946 | ||||||
| chr2:189125965
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-15516C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125965 | ||||||
| chr2:189125971
|
A | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-15522T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125971 | ||||||
| chr2:189126066
|
A | G | 11 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(8): Show | 11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-15617T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126066 | ||||||
| chr2:189126115
|
A | G | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-15666T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126115 | ||||||
| chr2:189126440
|
T | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-15991A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126440 | ||||||
| chr2:189126453
|
A | G | 1 | a0001c0003t0001g0208 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.98-16004T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126453 | ||||||
| chr2:189126744
|
G | A | 1 | a0001c0001t0001g0118 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.98-16295C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126744 | ||||||
| chr2:189126745
|
G | A | 2 | a0001c0001t0001g0076a0001c0001t0001g0085 | 2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.98-16296C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126745 | ||||||
| chr2:189126848
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.98-16399G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126848 | ||||||
| chr2:189126958
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-16509G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126958 | ||||||
| chr2:189127021
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0001g0085 | 2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.98-16572T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127021 | ||||||
| chr2:189127039
|
T | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-16590A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127039 | ||||||
| chr2:189127343
|
C | T | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-16894G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127343 | ||||||
| chr2:189127416
|
T | A | 11 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(8): Show | 11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-16967A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127416 | ||||||
| chr2:189127545
|
C | T | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.98-17096G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127545 | ||||||
| chr2:189127583
|
T | C | 1 | a0001c0001t0025g0243 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.98-17134A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127583 | ||||||
| chr2:189127589
|
T | A | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-17140A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127589 | ||||||
| chr2:189127684
|
A | G | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.98-17235T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127684 | ||||||
| chr2:189127755
|
C | A | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-17306G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127755 | ||||||
| chr2:189127852
|
C | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-17403G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127852 | ||||||
| chr2:189127976
|
C | T | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.98-17527G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127976 | ||||||
| chr2:189128111
|
C | T | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-17662G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128111 | ||||||
| chr2:189128174
|
T | C | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-17725A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128174 | ||||||
| chr2:189128334
|
T | C | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-17885A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128334 | ||||||
| chr2:189128419
|
T | G | 1 | a0001c0004t0001g0176 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.98-17970A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128419 | ||||||
| chr2:189128566
|
G | A | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.98-18117C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128566 | ||||||
| chr2:189128700
|
C | T | 1 | a0001c0001t0001g0026 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.98-18251G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128700 | ||||||
| chr2:189128817
|
C | A | 72 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(69): Show | 72 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.98-18368G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128817 | ||||||
| chr2:189128849
|
G | T | 1 | a0001c0001t0001g0093 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.98-18400C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128849 | ||||||
| chr2:189128867
|
G | C | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-18418C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128867 | ||||||
| chr2:189129110
|
G | C | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.98-18661C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129110 | ||||||
| chr2:189129175
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-18726G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129175 | ||||||
| chr2:189129239
|
G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-18790C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129239 | ||||||
| chr2:189129558
|
G | A | 4 | a0001c0004t0001g0171a0001c0004t0001g0176a0001c0004t0001g0212others(1): Show | 4 | HG02056.hp1 NA18941.hp1 NA18972.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-19109C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129558 | ||||||
| chr2:189129579
|
A | G | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.98-19130T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129579 | ||||||
| chr2:189129808
|
G | A | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.98-19359C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129808 | ||||||
| chr2:189129815
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-19366C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129815 | ||||||
| chr2:189129902
|
T | C | 2 | a0001c0001t0001g0074a0001c0001t0001g0084 | 2 | NA18973.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.98-19453A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129902 | ||||||
| chr2:189129934
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-19485T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129934 | ||||||
| chr2:189130825
|
T | A | 1 | a0001c0002t0002g0031 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.98-20376A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189130825 | ||||||
| chr2:189130943
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.98-20494A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189130943 | ||||||
| chr2:189131087
|
G | A | 2 | a0001c0001t0001g0122a0014c0020t0001g0123 | 2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.98-20638C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131087 | ||||||
| chr2:189131169
|
T | C | 1 | a0014c0020t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.98-20720A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131169 | ||||||
| chr2:189131182
|
T | G | 1 | a0001c0004t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-20733A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131182 | ||||||
| chr2:189131361
|
C | A | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.98-20912G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131361 | ||||||
| chr2:189131566
|
A | G | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-21117T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131566 | ||||||
| chr2:189131693
|
C | G | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-21244G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131693 | ||||||
| chr2:189131880
|
G | A | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-21431C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131880 | ||||||
| chr2:189131898
|
G | A | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-21449C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131898 | ||||||
| chr2:189132172
|
T | C | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-21723A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132172 | ||||||
| chr2:189132185
|
A | G | 26 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(23): Show | 26 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(23): Show |
intron_variant | MODIFIER | c.98-21736T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132185 | ||||||
| chr2:189132191
|
C | T | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-21742G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132191 | ||||||
| chr2:189132205
|
G | A | 242 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(239): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.98-21756C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132205 | ||||||
| chr2:189132221
|
A | C | 1 | a0001c0001t0001g0188 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.98-21772T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132221 | ||||||
| chr2:189132749
|
C | T | 112 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(109): Show | 116 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.98-22300G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132749 | ||||||
| chr2:189132996
|
A | G | 1 | a0001c0001t0001g0076 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.98-22547T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132996 | ||||||
| chr2:189133090
|
C | G | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-22641G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133090 | ||||||
| chr2:189133108
|
G | A | 1 | a0001c0004t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-22659C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133108 | ||||||
| chr2:189133112
|
G | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-22663C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133112 | ||||||
| chr2:189133114
|
C | CT | 20 | a0001c0001t0001g0004a0001c0001t0001g0144a0001c0001t0001g0146others(17): Show | 20 | HG01167.hp2 HG01358.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.98-22666dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | ||||||
| chr2:189133114
|
CT | C | 13 | a0001c0001t0001g0014a0001c0001t0001g0055a0001c0001t0001g0061others(10): Show | 13 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(10): Show |
intron_variant | MODIFIER | c.98-22666delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | ||||||
| chr2:189133114
|
CTT | C | 103 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(100): Show | 107 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.98-22667_98-22666d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | ||||||
| chr2:189133114
|
CTTT | C | 33 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(30): Show | 33 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.98-22668_98-22666d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | ||||||
| chr2:189133141
|
A | C | 1 | a0001c0001t0001g0090 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.98-22692T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133141 | ||||||
| chr2:189133173
|
T | C | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-22724A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133173 | ||||||
| chr2:189133197
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.98-22748A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133197 | ||||||
| chr2:189133294
|
T | C | 31 | a0001c0001t0001g0163a0001c0001t0003g0152a0001c0001t0003g0166others(28): Show | 31 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(28): Show |
intron_variant | MODIFIER | c.98-22845A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133294 | ||||||
| chr2:189133295
|
AT | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-22847delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133295 | ||||||
| chr2:189133296
|
T | C | 1 | a0001c0001t0001g0188 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.98-22847A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133296 | ||||||
| chr2:189133298
|
T | A | 1 | a0013c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.98-22849A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133298 | ||||||
| chr2:189133302
|
G | T | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-22853C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133302 | ||||||
| chr2:189133370
|
C | T | 1 | a0010c0024t0004g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.98-22921G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133370 | ||||||
| chr2:189133561
|
T | G | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-23112A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133561 | ||||||
| chr2:189133613
|
C | T | 161 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(158): Show | 165 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.98-23164G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133613 | ||||||
| chr2:189133632
|
C | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.98-23183G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133632 | ||||||
| chr2:189133827
|
G | T | 1 | a0001c0001t0007g0057 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.98-23378C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133827 | ||||||
| chr2:189134035
|
A | T | 25 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(22): Show | 25 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.98-23586T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134035 | ||||||
| chr2:189134087
|
G | A | 1 | a0001c0001t0007g0057 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.98-23638C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134087 | ||||||
| chr2:189134280
|
G | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-23831C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134280 | ||||||
| chr2:189134285
|
T | C | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-23836A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134285 | ||||||
| chr2:189134443
|
G | T | 1 | a0001c0004t0001g0160 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.98-23994C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134443 | ||||||
| chr2:189134482
|
G | A | 1 | a0001c0003t0011g0168 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.98-24033C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134482 | ||||||
| chr2:189134514
|
G | A | 112 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(109): Show | 116 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.98-24065C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134514 | ||||||
| chr2:189134521
|
G | A | 80 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(77): Show | 80 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.98-24072C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134521 | ||||||
| chr2:189134545
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0004g0043 | 2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-24096G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134545 | ||||||
| chr2:189134977
|
GAA | G | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-24530_98-24529d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134977 | ||||||
| chr2:189135081
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.98-24632G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135081 | ||||||
| chr2:189135093
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0004g0043 | 2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-24644A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135093 | ||||||
| chr2:189135264
|
C | G | 1 | a0001c0001t0003g0185 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.98-24815G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135264 | ||||||
| chr2:189135354
|
G | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-24905C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135354 | ||||||
| chr2:189135542
|
C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-25093G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135542 | ||||||
| chr2:189135637
|
A | G | 1 | a0002c0006t0005g0132 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.98-25188T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135637 | ||||||
| chr2:189136306
|
A | C | 1 | a0001c0001t0001g0089 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.98-25857T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136306 | ||||||
| chr2:189136366
|
T | C | 2 | a0001c0001t0001g0014a0001c0001t0013g0013 | 2 | HG03139.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.98-25917A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136366 | ||||||
| chr2:189136380
|
T | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-25931A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136380 | ||||||
| chr2:189136457
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-26008A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136457 | ||||||
| chr2:189136458
|
A | G | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-26009T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136458 | ||||||
| chr2:189136515
|
A | AAT | 231 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(228): Show | 235 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(232): Show |
intron_variant | MODIFIER | c.98-26068_98-26067d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136515 | ||||||
| chr2:189136576
|
G | A | 1 | a0001c0003t0001g0208 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.98-26127C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136576 | ||||||
| chr2:189137081
|
G | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(146): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-26632C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137081 | ||||||
| chr2:189137099
|
C | T | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.98-26650G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137099 | ||||||
| chr2:189137468
|
G | C | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-27019C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137468 | ||||||
| chr2:189137570
|
T | C | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-27121A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137570 | ||||||
| chr2:189137696
|
T | C | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.98-27247A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137696 | ||||||
| chr2:189138041
|
G | C | 150 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(147): Show | 154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.98-27592C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138041 | ||||||
| chr2:189138355
|
T | A | 1 | a0001c0001t0001g0104 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.98-27906A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138355 | ||||||
| chr2:189138559
|
T | C | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.98-28110A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138559 | ||||||
| chr2:189138572
|
A | C | 3 | a0001c0007t0005g0006a0001c0007t0005g0007a0001c0007t0005g0008 | 3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-28123T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138572 | ||||||
| chr2:189138762
|
C | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(145): Show | 152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-28313G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138762 | ||||||
| chr2:189139671
|
T | C | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.98-29222A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139671 | ||||||
| chr2:189139721
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-29272A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139721 | ||||||
| chr2:189139722
|
A | T | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-29273T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139722 | ||||||
| chr2:189139876
|
T | C | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-29427A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139876 | ||||||
| chr2:189139889
|
A | G | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-29440T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139889 | ||||||
| chr2:189139902
|
G | A | 34 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(31): Show | 34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.98-29453C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139902 | ||||||
| chr2:189139943
|
C | T | 34 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(31): Show | 34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.98-29494G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139943 | ||||||
| chr2:189140029
|
C | A | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.98-29580G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140029 | ||||||
| chr2:189140033
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-29584C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140033 | ||||||
| chr2:189140052
|
G | A | 2 | a0004c0013t0001g0113a0004c0013t0001g0114 | 2 | HG02717.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.98-29603C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140052 | ||||||
| chr2:189140117
|
C | T | 34 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(31): Show | 34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.98-29668G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140117 | ||||||
| chr2:189140247
|
C | T | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-29798G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140247 | ||||||
| chr2:189140301
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-29852T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140301 | ||||||
| chr2:189140962
|
T | C | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-30513A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140962 | ||||||
| chr2:189141027
|
T | C | 1 | a0001c0001t0001g0012 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.98-30578A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141027 | ||||||
| chr2:189141142
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-30693T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141142 | ||||||
| chr2:189141277
|
T | G | 14 | a0001c0001t0001g0004a0001c0001t0001g0146a0001c0001t0001g0147others(11): Show | 14 | HG01069.hp1 HG02630.hp1 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.98-30828A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141277 | ||||||
| chr2:189141383
|
T | G | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-30934A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141383 | ||||||
| chr2:189141552
|
G | A | 1 | a0001c0001t0003g0183 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.98-31103C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141552 | ||||||
| chr2:189141996
|
C | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-31547G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141996 | ||||||
| chr2:189142226
|
G | A | 1 | a0001c0004t0001g0002 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.98-31777C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142226 | ||||||
| chr2:189142283
|
T | C | 1 | a0001c0001t0001g0076 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.98-31834A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142283 | ||||||
| chr2:189142380
|
C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-31931G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142380 | ||||||
| chr2:189142617
|
A | G | 7 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0067others(4): Show | 7 | HG01192.hp1 HG01261.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.98-32168T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142617 | ||||||
| chr2:189142652
|
C | T | 10 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(7): Show | 10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.98-32203G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142652 | ||||||
| chr2:189142688
|
T | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-32239A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142688 | ||||||
| chr2:189143016
|
C | T | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-32567G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143016 | ||||||
| chr2:189143105
|
A | T | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-32656T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143105 | ||||||
| chr2:189143466
|
C | T | 159 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(156): Show | 163 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.98-33017G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143466 | ||||||
| chr2:189143492
|
C | T | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-33043G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143492 | ||||||
| chr2:189143670
|
C | G | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-33221G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143670 | ||||||
| chr2:189143798
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-33349C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143798 | ||||||
| chr2:189143854
|
T | A | 23 | a0001c0001t0001g0163a0001c0001t0003g0166a0001c0001t0003g0167others(20): Show | 23 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(20): Show |
intron_variant | MODIFIER | c.98-33405A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143854 | ||||||
| chr2:189143857
|
T | C | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.98-33408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143857 | ||||||
| chr2:189143947
|
G | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.98-33498C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143947 | ||||||
| chr2:189144264
|
A | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-33815T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144264 | ||||||
| chr2:189144287
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-33838T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144287 | ||||||
| chr2:189144340
|
C | T | 121 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(118): Show | 125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.98-33891G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144340 | ||||||
| chr2:189144502
|
ATGAG | A | 121 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(118): Show | 125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.98-34057_98-34054d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144502 | ||||||
| chr2:189144742
|
C | T | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-34293G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144742 | ||||||
| chr2:189144872
|
T | C | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.98-34423A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144872 | ||||||
| chr2:189144992
|
C | G | 121 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(118): Show | 125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.97+34516G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144992 | ||||||
| chr2:189145133
|
A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+34375T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145133 | ||||||
| chr2:189145300
|
T | C | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97+34208A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145300 | ||||||
| chr2:189145556
|
A | G | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.97+33952T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145556 | ||||||
| chr2:189145680
|
A | G | 1 | a0001c0001t0001g0053 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.97+33828T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145680 | ||||||
| chr2:189145696
|
T | C | 23 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(20): Show | 23 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.97+33812A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145696 | ||||||
| chr2:189145727
|
G | A | 17 | a0001c0004t0001g0002a0001c0004t0001g0056a0001c0004t0001g0160others(14): Show | 18 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(15): Show |
intron_variant | MODIFIER | c.97+33781C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145727 | ||||||
| chr2:189145772
|
A | G | 1 | a0001c0001t0001g0085 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.97+33736T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145772 | ||||||
| chr2:189146382
|
A | G | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+33126T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146382 | ||||||
| chr2:189146430
|
A | G | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+33078T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146430 | ||||||
| chr2:189146480
|
G | A | 11 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(8): Show | 11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.97+33028C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146480 | ||||||
| chr2:189146576
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+32932C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146576 | ||||||
| chr2:189146623
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.97+32885C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146623 | ||||||
| chr2:189146692
|
G | A | 159 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(156): Show | 163 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.97+32816C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146692 | ||||||
| chr2:189146815
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+32693C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146815 | ||||||
| chr2:189146996
|
C | A | 1 | a0001c0001t0001g0192 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.97+32512G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146996 | ||||||
| chr2:189147210
|
A | G | 120 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+32298T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147210 | ||||||
| chr2:189147382
|
C | A | 1 | a0001c0004t0001g0219 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.97+32126G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147382 | ||||||
| chr2:189147450
|
C | G | 116 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(113): Show | 120 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
intron_variant | MODIFIER | c.97+32058G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147450 | ||||||
| chr2:189148020
|
C | T | 34 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(31): Show | 34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.97+31488G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148020 | ||||||
| chr2:189148021
|
G | A | 1 | a0001c0001t0004g0193 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.97+31487C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148021 | ||||||
| chr2:189148065
|
C | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+31443G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148065 | ||||||
| chr2:189148369
|
T | C | 4 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0070others(1): Show | 4 | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+31139A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148369 | ||||||
| chr2:189148409
|
A | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+31099T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148409 | ||||||
| chr2:189148420
|
G | A | 75 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(72): Show | 75 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
intron_variant | MODIFIER | c.97+31088C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148420 | ||||||
| chr2:189148699
|
T | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+30809A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148699 | ||||||
| chr2:189148799
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+30709A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148799 | ||||||
| chr2:189148857
|
T | C | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.97+30651A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148857 | ||||||
| chr2:189148863
|
G | T | 1 | a0003c0014t0001g0039 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.97+30645C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148863 | ||||||
| chr2:189148929
|
C | T | 1 | a0001c0001t0001g0088 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.97+30579G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148929 | ||||||
| chr2:189149030
|
C | T | 3 | a0001c0001t0001g0026a0006c0009t0001g0019a0006c0009t0001g0027 | 3 | HG01433.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.97+30478G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149030 | ||||||
| chr2:189149065
|
G | A | 22 | a0001c0001t0001g0209a0001c0003t0001g0150a0001c0003t0001g0164others(19): Show | 22 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+30443C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149065 | ||||||
| chr2:189149067
|
A | G | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+30441T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149067 | ||||||
| chr2:189149406
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+30102A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149406 | ||||||
| chr2:189149512
|
G | A | 1 | a0004c0013t0001g0114 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.97+29996C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149512 | ||||||
| chr2:189149563
|
C | G | 1 | a0001c0001t0001g0050 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.97+29945G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149563 | ||||||
| chr2:189149591
|
T | C | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+29917A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149591 | ||||||
| chr2:189149742
|
G | A | 23 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(20): Show | 23 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.97+29766C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149742 | ||||||
| chr2:189150053
|
A | T | 1 | a0001c0001t0001g0087 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.97+29455T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150053 | ||||||
| chr2:189150153
|
C | G | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.97+29355G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150153 | ||||||
| chr2:189150338
|
C | G | 35 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(32): Show | 35 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.97+29170G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150338 | ||||||
| chr2:189150583
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.97+28925G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150583 | ||||||
| chr2:189150632
|
A | T | 2 | a0001c0001t0003g0127a0001c0001t0003g0128 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.97+28876T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150632 | ||||||
| chr2:189150640
|
G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+28868C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150640 | ||||||
| chr2:189150934
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+28574C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150934 | ||||||
| chr2:189151062
|
T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+28446A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151062 | ||||||
| chr2:189151085
|
T | C | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+28423A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151085 | ||||||
| chr2:189151190
|
A | T | 1 | a0001c0001t0001g0121 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.97+28318T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151190 | ||||||
| chr2:189151212
|
G | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+28296C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151212 | ||||||
| chr2:189151805
|
CTTTGG | C | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+27698_97+27702d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151805 | ||||||
| chr2:189152040
|
C | A | 1 | a0001c0003t0011g0169 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.97+27468G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152040 | ||||||
| chr2:189152110
|
C | T | 120 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+27398G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152110 | ||||||
| chr2:189152541
|
C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+26967G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152541 | ||||||
| chr2:189152668
|
G | A | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.97+26840C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152668 | ||||||
| chr2:189152935
|
G | A | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+26573C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152935 | ||||||
| chr2:189153167
|
T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+26341A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153167 | ||||||
| chr2:189153373
|
G | A | 120 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+26135C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153373 | ||||||
| chr2:189153441
|
A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+26067T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153441 | ||||||
| chr2:189153454
|
T | C | 2 | a0001c0001t0001g0014a0001c0001t0013g0013 | 2 | HG03139.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.97+26054A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153454 | ||||||
| chr2:189153457
|
C | A | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.97+26051G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153457 | ||||||
| chr2:189153494
|
A | T | 1 | a0001c0001t0003g0167 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.97+26014T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153494 | ||||||
| chr2:189153878
|
T | C | 1 | a0001c0001t0001g0032 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.97+25630A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153878 | ||||||
| chr2:189153916
|
T | C | 241 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(238): Show | 245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.97+25592A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153916 | ||||||
| chr2:189153932
|
G | T | 1 | a0001c0001t0022g0086 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.97+25576C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153932 | ||||||
| chr2:189154085
|
A | T | 1 | a0001c0003t0011g0168 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.97+25423T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154085 | ||||||
| chr2:189154118
|
C | T | 124 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(121): Show | 128 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(125): Show |
intron_variant | MODIFIER | c.97+25390G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154118 | ||||||
| chr2:189154214
|
C | T | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+25294G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154214 | ||||||
| chr2:189154258
|
A | G | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+25250T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154258 | ||||||
| chr2:189154443
|
T | C | 4 | a0001c0001t0001g0119a0001c0001t0001g0121a0003c0014t0001g0039others(1): Show | 4 | HG01069.hp2 HG01081.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+25065A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154443 | ||||||
| chr2:189154617
|
C | T | 1 | a0001c0003t0001g0189 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.97+24891G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154617 | ||||||
| chr2:189154635
|
T | C | 1 | a0001c0001t0001g0069 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.97+24873A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154635 | ||||||
| chr2:189154708
|
C | T | 1 | a0001c0001t0001g0061 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.97+24800G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154708 | ||||||
| chr2:189154711
|
C | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+24797G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154711 | ||||||
| chr2:189154803
|
T | C | 2 | a0001c0004t0018g0129a0009c0016t0006g0130 | 2 | HG01081.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.97+24705A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154803 | ||||||
| chr2:189154835
|
C | T | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.97+24673G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154835 | ||||||
| chr2:189154902
|
G | A | 1 | a0001c0002t0002g0033 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.97+24606C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154902 | ||||||
| chr2:189155044
|
A | G | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+24464T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155044 | ||||||
| chr2:189155138
|
C | G | 1 | a0001c0002t0002g0025 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.97+24370G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155138 | ||||||
| chr2:189155367
|
TGGGA | T | 243 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(240): Show | 247 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show |
intron_variant | MODIFIER | c.97+24137_97+24140d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155367 | ||||||
| chr2:189155383
|
T | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+24125A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155383 | ||||||
| chr2:189155657
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+23851A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155657 | ||||||
| chr2:189155688
|
GTTTA | G | 3 | a0001c0003t0001g0189a0001c0003t0001g0190a0001c0003t0001g0191 | 3 | HG02451.hp1 HG02717.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.97+23816_97+23819d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155688 | ||||||
| chr2:189155909
|
C | T | 1 | a0002c0006t0005g0131 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.97+23599G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155909 | ||||||
| chr2:189155915
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0001g0085 | 2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.97+23593T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155915 | ||||||
| chr2:189156220
|
A | G | 1 | a0001c0001t0008g0220 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.97+23288T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156220 | ||||||
| chr2:189156242
|
G | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+23266C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156242 | ||||||
| chr2:189156827
|
C | T | 1 | a0001c0001t0003g0152 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.97+22681G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156827 | ||||||
| chr2:189156835
|
C | T | 2 | a0001c0001t0003g0166a0001c0001t0003g0210 | 2 | HG02280.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.97+22673G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156835 | ||||||
| chr2:189157113
|
T | C | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+22395A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157113 | ||||||
| chr2:189157117
|
GATATATC others(9): Show |
G | 120 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+22375_97+22390d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157117 | ||||||
| chr2:189157124
|
C | CTA | 122 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0026others(119): Show | 122 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(119): Show |
intron_variant | MODIFIER | c.97+22382_97+22383d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157124 | ||||||
| chr2:189157130
|
A | ATATATAG others(15): Show |
1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+22377_97+22378i others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157130 | ||||||
| chr2:189157133
|
T | TATAGATA others(63): Show |
1 | a0001c0003t0001g0223 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(23): Show |
22 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(19): Show | 22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(32): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(101): Show |
1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+22374_97+22375i others(110): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(111): Show |
2 | a0001c0001t0001g0004a0001c0001t0004g0043 | 2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(120): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(39): Show |
58 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0155others(55): Show | 58 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(48): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(63): Show |
10 | a0001c0001t0001g0192a0001c0001t0003g0167a0001c0001t0004g0149others(7): Show | 10 | HG00280.hp1 HG01106.hp1 HG01358.hp1 others(7): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(121): Show |
20 | a0001c0001t0001g0209a0001c0003t0001g0150a0001c0003t0001g0164others(17): Show | 20 | HG01167.hp2 HG01169.hp2 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(130): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(73): Show |
2 | a0001c0002t0002g0238a0013c0017t0006g0034 | 2 | HG03688.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(82): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(141): Show |
1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+22374_97+22375i others(150): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(69): Show |
3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(78): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157133
|
T | TATAGATA others(63): Show |
1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | ||||||
| chr2:189157182
|
TA | T | 22 | a0001c0001t0003g0166a0001c0001t0003g0167a0001c0001t0003g0178others(19): Show | 22 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+22325delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157182 | ||||||
| chr2:189157183
|
A | AT | 3 | a0001c0002t0009g0161a0001c0002t0009g0162a0001c0010t0007g0075 | 3 | HG03516.hp1 HG03540.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.97+22324_97+22325i others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157183 | ||||||
| chr2:189157327
|
G | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+22181C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157327 | ||||||
| chr2:189158132
|
A | G | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+21376T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158132 | ||||||
| chr2:189158336
|
T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+21172A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158336 | ||||||
| chr2:189158450
|
A | C | 22 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(19): Show | 22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+21058T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158450 | ||||||
| chr2:189158527
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+20981A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158527 | ||||||
| chr2:189158605
|
T | A | 239 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(236): Show | 243 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.97+20903A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158605 | ||||||
| chr2:189158629
|
A | G | 1 | a0013c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.97+20879T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158629 | ||||||
| chr2:189158874
|
A | T | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+20634T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158874 | ||||||
| chr2:189158926
|
C | A | 1 | a0001c0001t0001g0209 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.97+20582G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158926 | ||||||
| chr2:189159234
|
A | G | 41 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(38): Show | 41 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.97+20274T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159234 | ||||||
| chr2:189159466
|
G | T | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+20042C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159466 | ||||||
| chr2:189159702
|
TA | T | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+19805delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159702 | ||||||
| chr2:189159719
|
CTAAAACA others(1): Show |
C | 120 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+19781_97+19788d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159719 | ||||||
| chr2:189159795
|
G | A | 3 | a0001c0001t0001g0106a0001c0001t0001g0107a0007c0015t0001g0108 | 3 | HG01517.hp2 HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.97+19713C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159795 | ||||||
| chr2:189159866
|
C | T | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+19642G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159866 | ||||||
| chr2:189159941
|
G | T | 243 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(240): Show | 247 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show |
intron_variant | MODIFIER | c.97+19567C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159941 | ||||||
| chr2:189160046
|
T | C | 1 | a0001c0001t0001g0004 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.97+19462A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160046 | ||||||
| chr2:189160059
|
C | T | 1 | a0001c0004t0001g0056 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.97+19449G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160059 | ||||||
| chr2:189160274
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+19234T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160274 | ||||||
| chr2:189160530
|
C | A | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+18978G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160530 | ||||||
| chr2:189160536
|
G | T | 3 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+18972C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160536 | ||||||
| chr2:189160828
|
C | CT | 16 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | HG00609.hp1 HG01358.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.97+18679dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160828 | ||||||
| chr2:189160828
|
CT | C | 7 | a0001c0001t0003g0128a0001c0001t0003g0184a0001c0002t0020g0038others(4): Show | 7 | HG01069.hp1 HG01081.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.97+18679delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160828 | ||||||
| chr2:189160894
|
G | A | 116 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(113): Show | 120 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
intron_variant | MODIFIER | c.97+18614C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160894 | ||||||
| chr2:189160912
|
C | A | 111 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(108): Show | 115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+18596G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160912 | ||||||
| chr2:189160936
|
T | C | 41 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(38): Show | 41 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.97+18572A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160936 | ||||||
| chr2:189160956
|
G | A | 3 | a0001c0001t0003g0210a0001c0001t0003g0211a0001c0001t0003g0222 | 3 | NA18942.hp1 NA18953.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.97+18552C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160956 | ||||||
| chr2:189161201
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+18307A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161201 | ||||||
| chr2:189161292
|
G | C | 159 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(156): Show | 163 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.97+18216C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161292 | ||||||
| chr2:189161485
|
T | C | 5 | a0001c0001t0008g0220a0001c0001t0008g0236a0001c0001t0008g0240others(2): Show | 5 | HG03688.hp1 HG03704.hp1 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+18023A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161485 | ||||||
| chr2:189161526
|
C | T | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+17982G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161526 | ||||||
| chr2:189161708
|
T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+17800A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161708 | ||||||
| chr2:189161800
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+17708T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161800 | ||||||
| chr2:189161836
|
A | G | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+17672T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161836 | ||||||
| chr2:189162043
|
T | C | 1 | a0001c0001t0001g0078 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.97+17465A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162043 | ||||||
| chr2:189162430
|
T | A | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+17078A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162430 | ||||||
| chr2:189162553
|
G | A | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.97+16955C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162553 | ||||||
| chr2:189163004
|
T | A | 239 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(236): Show | 243 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.97+16504A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163004 | ||||||
| chr2:189163011
|
T | C | 108 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(105): Show | 111 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.97+16497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163011 | ||||||
| chr2:189163640
|
C | A | 1 | a0001c0001t0003g0232 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.97+15868G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163640 | ||||||
| chr2:189163763
|
A | G | 92 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(89): Show | 93 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+15745T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163763 | ||||||
| chr2:189163770
|
C | T | 108 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(105): Show | 111 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.97+15738G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163770 | ||||||
| chr2:189163894
|
A | G | 1 | a0009c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.97+15614T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163894 | ||||||
| chr2:189164019
|
G | A | 1 | a0001c0001t0004g0081 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.97+15489C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164019 | ||||||
| chr2:189164436
|
G | T | 24 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(21): Show | 24 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.97+15072C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164436 | ||||||
| chr2:189164580
|
A | G | 144 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(141): Show | 147 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.97+14928T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164580 | ||||||
| chr2:189164658
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.97+14850G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164658 | ||||||
| chr2:189164852
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+14656A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164852 | ||||||
| chr2:189164956
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+14552G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164956 | ||||||
| chr2:189165227
|
G | A | 1 | a0015c0022t0002g0035 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.97+14281C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165227 | ||||||
| chr2:189165619
|
C | T | 35 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(32): Show | 35 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.97+13889G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165619 | ||||||
| chr2:189165877
|
T | C | 1 | a0001c0002t0002g0052 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.97+13631A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165877 | ||||||
| chr2:189165897
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+13611C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165897 | ||||||
| chr2:189166020
|
T | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+13488A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166020 | ||||||
| chr2:189166050
|
A | AT | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+13457dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166050 | ||||||
| chr2:189166090
|
T | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(71): Show | 74 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.97+13418A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166090 | ||||||
| chr2:189166288
|
G | A | 1 | a0001c0001t0008g0240 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.97+13220C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166288 | ||||||
| chr2:189166330
|
A | AT | 18 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0003g0178others(15): Show | 18 | HG00408.hp1 HG02165.hp1 HG02895.hp1 others(15): Show |
intron_variant | MODIFIER | c.97+13177dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166330 | ||||||
| chr2:189166330
|
AT | A | 9 | a0001c0001t0001g0049a0001c0001t0001g0121a0001c0001t0013g0145others(6): Show | 9 | HG01069.hp1 HG01069.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.97+13177delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166330 | ||||||
| chr2:189166364
|
G | A | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+13144C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166364 | ||||||
| chr2:189166373
|
T | C | 242 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(239): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.97+13135A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166373 | ||||||
| chr2:189166454
|
A | C | 104 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(101): Show | 107 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.97+13054T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166454 | ||||||
| chr2:189167433
|
T | A | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+12075A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167433 | ||||||
| chr2:189167518
|
C | A | 2 | a0001c0001t0001g0004a0001c0001t0004g0043 | 2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+11990G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167518 | ||||||
| chr2:189167664
|
A | AT | 93 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0001g0155others(90): Show | 94 | HG00280.hp1 HG00408.hp1 HG01106.hp1 others(91): Show |
intron_variant | MODIFIER | c.97+11843dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | ||||||
| chr2:189167664
|
A | ATT | 11 | a0001c0001t0001g0049a0001c0001t0001g0163a0001c0001t0003g0135others(8): Show | 11 | HG00423.hp2 HG00609.hp2 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.97+11842_97+11843d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | ||||||
| chr2:189167664
|
A | ATTT | 92 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(89): Show | 95 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.97+11841_97+11843d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | ||||||
| chr2:189167664
|
A | ATTTT | 10 | a0001c0001t0001g0076a0001c0001t0001g0079a0001c0001t0001g0110others(7): Show | 10 | HG00423.hp1 HG02055.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.97+11840_97+11843d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | ||||||
| chr2:189167809
|
T | G | 1 | a0001c0001t0003g0222 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.97+11699A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167809 | ||||||
| chr2:189167852
|
C | T | 23 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(20): Show | 23 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.97+11656G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167852 | ||||||
| chr2:189167941
|
C | T | 5 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0009g0143others(2): Show | 5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+11567G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167941 | ||||||
| chr2:189167944
|
A | AT | 5 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(2): Show | 5 | HG02895.hp1 NA18977.hp1 NA19006.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+11563dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | ||||||
| chr2:189167944
|
A | ATTTT | 85 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(82): Show | 88 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.97+11560_97+11563d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | ||||||
| chr2:189167944
|
A | ATTTTT | 8 | a0001c0001t0001g0015a0001c0001t0001g0050a0001c0001t0001g0051others(5): Show | 8 | HG02055.hp1 HG02293.hp1 NA18612.hp1 others(5): Show |
intron_variant | MODIFIER | c.97+11559_97+11563d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | ||||||
| chr2:189167998
|
C | T | 102 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(99): Show | 105 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(102): Show |
intron_variant | MODIFIER | c.97+11510G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167998 | ||||||
| chr2:189168023
|
C | T | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+11485G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168023 | ||||||
| chr2:189168144
|
T | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(2): Show | 8 | HG02145.hp2 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.97+11364A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168144 | ||||||
| chr2:189168185
|
C | T | 10 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(7): Show | 10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.97+11323G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168185 | ||||||
| chr2:189168237
|
G | GT | 122 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.97+11270dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168237 | ||||||
| chr2:189168237
|
G | GTT | 11 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0062others(8): Show | 14 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.97+11269_97+11270d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168237 | ||||||
| chr2:189168334
|
G | T | 1 | a0001c0002t0002g0016 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.97+11174C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168334 | ||||||
| chr2:189168343
|
T | G | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+11165A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168343 | ||||||
| chr2:189168346
|
G | T | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.97+11162C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168346 | ||||||
| chr2:189168422
|
T | G | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.97+11086A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168422 | ||||||
| chr2:189168600
|
G | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+10908C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168600 | ||||||
| chr2:189168800
|
T | C | 2 | a0001c0002t0009g0161a0001c0002t0009g0162 | 2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+10708A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168800 | ||||||
| chr2:189169077
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+10431C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169077 | ||||||
| chr2:189169178
|
G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+10330C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169178 | ||||||
| chr2:189169273
|
T | C | 1 | a0002c0006t0017g0136 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.97+10235A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169273 | ||||||
| chr2:189169340
|
C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+10168G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169340 | ||||||
| chr2:189169481
|
T | C | 1 | a0001c0003t0001g0223 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.97+10027A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169481 | ||||||
| chr2:189169587
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+9921T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169587 | ||||||
| chr2:189169728
|
T | G | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+9780A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169728 | ||||||
| chr2:189169775
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+9733C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169775 | ||||||
| chr2:189169796
|
C | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.97+9712G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169796 | ||||||
| chr2:189169854
|
A | G | 2 | a0001c0004t0018g0129a0009c0016t0006g0130 | 2 | HG01081.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.97+9654T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169854 | ||||||
| chr2:189169928
|
G | A | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+9580C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169928 | ||||||
| chr2:189170012
|
T | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+9496A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170012 | ||||||
| chr2:189170017
|
T | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+9491A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170017 | ||||||
| chr2:189170079
|
G | T | 1 | a0001c0019t0001g0072 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.97+9429C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170079 | ||||||
| chr2:189170245
|
C | A | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+9263G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170245 | ||||||
| chr2:189170696
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.97+8812C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170696 | ||||||
| chr2:189170722
|
G | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02109.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.97+8786C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170722 | ||||||
| chr2:189170837
|
T | C | 90 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(87): Show | 90 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+8671A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170837 | ||||||
| chr2:189170883
|
T | C | 3 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0002t0002g0059 | 3 | NA18972.hp2 NA18992.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.97+8625A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170883 | ||||||
| chr2:189171019
|
T | C | 4 | a0001c0001t0003g0152a0001c0001t0003g0224a0001c0001t0003g0225others(1): Show | 4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+8489A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171019 | ||||||
| chr2:189171128
|
T | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8380A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171128 | ||||||
| chr2:189171193
|
T | C | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+8315A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171193 | ||||||
| chr2:189171218
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8290C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171218 | ||||||
| chr2:189171292
|
A | G | 100 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8216T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171292 | ||||||
| chr2:189171310
|
G | T | 1 | a0012c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+8198C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171310 | ||||||
| chr2:189171430
|
C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+8078G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171430 | ||||||
| chr2:189171485
|
G | A | 77 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(74): Show | 77 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.97+8023C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171485 | ||||||
| chr2:189171502
|
C | T | 242 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(239): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.97+8006G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171502 | ||||||
| chr2:189171535
|
C | T | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+7973G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171535 | ||||||
| chr2:189171687
|
T | C | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.97+7821A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171687 | ||||||
| chr2:189171736
|
A | C | 1 | a0001c0001t0001g0061 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.97+7772T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171736 | ||||||
| chr2:189171751
|
G | C | 2 | a0001c0001t0003g0227a0001c0001t0003g0228 | 2 | HG00408.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.97+7757C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171751 | ||||||
| chr2:189172225
|
G | A | 2 | a0004c0013t0001g0113a0004c0013t0001g0114 | 2 | HG02717.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.97+7283C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172225 | ||||||
| chr2:189172418
|
A | C | 1 | a0001c0002t0002g0060 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.97+7090T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172418 | ||||||
| chr2:189172441
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+7067C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172441 | ||||||
| chr2:189172657
|
A | G | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6851T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172657 | ||||||
| chr2:189172733
|
A | G | 5 | a0001c0001t0001g0163a0001c0005t0002g0172a0001c0005t0002g0174others(2): Show | 5 | HG00423.hp2 HG00609.hp2 HG02135.hp2 others(2): Show |
intron_variant | MODIFIER | c.97+6775T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172733 | ||||||
| chr2:189172737
|
T | C | 1 | a0001c0001t0001g0115 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.97+6771A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172737 | ||||||
| chr2:189172968
|
C | CT | 77 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0155others(74): Show | 78 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(75): Show |
intron_variant | MODIFIER | c.97+6539dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | ||||||
| chr2:189172968
|
C | CTT | 8 | a0001c0001t0003g0166a0001c0001t0003g0167a0001c0003t0001g0164others(5): Show | 8 | HG01106.hp1 HG01358.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.97+6538_97+6539dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | ||||||
| chr2:189172968
|
CT | C | 90 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(87): Show | 93 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+6539delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | ||||||
| chr2:189172993
|
C | T | 3 | a0001c0001t0001g0144a0001c0001t0013g0145a0001c0025t0001g0125 | 3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+6515G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172993 | ||||||
| chr2:189173028
|
T | A | 1 | a0001c0001t0001g0121 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.97+6480A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173028 | ||||||
| chr2:189173074
|
G | A | 1 | a0001c0001t0001g0239 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97+6434C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173074 | ||||||
| chr2:189173096
|
G | A | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+6412C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173096 | ||||||
| chr2:189173159
|
A | G | 12 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(9): Show | 12 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.97+6349T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173159 | ||||||
| chr2:189173208
|
A | C | 1 | a0011c0023t0004g0117 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97+6300T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173208 | ||||||
| chr2:189173250
|
A | G | 1 | a0001c0001t0001g0054 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.97+6258T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173250 | ||||||
| chr2:189173316
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.97+6192A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173316 | ||||||
| chr2:189173331
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6177A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173331 | ||||||
| chr2:189173380
|
C | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6128G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173380 | ||||||
| chr2:189173509
|
C | A | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+5999G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173509 | ||||||
| chr2:189173597
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+5911C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173597 | ||||||
| chr2:189173635
|
A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+5873T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173635 | ||||||
| chr2:189173901
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5607G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173901 | ||||||
| chr2:189173929
|
A | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5579T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173929 | ||||||
| chr2:189173963
|
G | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5545C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173963 | ||||||
| chr2:189174011
|
T | C | 92 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(89): Show | 93 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+5497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174011 | ||||||
| chr2:189174188
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.97+5320G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174188 | ||||||
| chr2:189174244
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5264C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174244 | ||||||
| chr2:189174483
|
T | C | 1 | a0001c0001t0001g0239 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97+5025A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174483 | ||||||
| chr2:189174508
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5000C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174508 | ||||||
| chr2:189174716
|
T | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+4792A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174716 | ||||||
| chr2:189174768
|
G | A | 95 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(92): Show | 98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+4740C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174768 | ||||||
| chr2:189174832
|
A | G | 3 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0002t0002g0052 | 3 | HG02293.hp1 NA18612.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.97+4676T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174832 | ||||||
| chr2:189174849
|
T | G | 36 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(33): Show | 36 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.97+4659A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174849 | ||||||
| chr2:189174897
|
G | A | 89 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(86): Show | 90 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+4611C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174897 | ||||||
| chr2:189175234
|
T | A | 4 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043others(1): Show | 4 | HG01069.hp1 HG02630.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+4274A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175234 | ||||||
| chr2:189175363
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0004g0043 | 2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+4145G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175363 | ||||||
| chr2:189175421
|
T | A | 23 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(20): Show | 23 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.97+4087A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175421 | ||||||
| chr2:189175544
|
C | CT | 92 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(89): Show | 95 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.97+3963dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175544 | ||||||
| chr2:189175544
|
C | CTT | 6 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0046others(3): Show | 6 | HG01167.hp1 HG01258.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.97+3962_97+3963dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175544 | ||||||
| chr2:189175562
|
TAGAC | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+3942_97+3945del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175562 | ||||||
| chr2:189175629
|
C | T | 99 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(96): Show | 102 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(99): Show |
intron_variant | MODIFIER | c.97+3879G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175629 | ||||||
| chr2:189175706
|
C | T | 2 | a0001c0001t0003g0127a0001c0001t0003g0128 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.97+3802G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175706 | ||||||
| chr2:189175709
|
C | T | 94 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(91): Show | 97 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.97+3799G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175709 | ||||||
| chr2:189175860
|
C | A | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043 | 3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+3648G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175860 | ||||||
| chr2:189176198
|
A | G | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.97+3310T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176198 | ||||||
| chr2:189176320
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+3188A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176320 | ||||||
| chr2:189176501
|
C | G | 12 | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(9): Show | 12 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.97+3007G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176501 | ||||||
| chr2:189176512
|
C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+2996G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176512 | ||||||
| chr2:189176604
|
C | T | 4 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0001t0004g0043others(1): Show | 4 | HG01069.hp1 HG02630.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+2904G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176604 | ||||||
| chr2:189176707
|
G | GCA | 4 | a0001c0001t0001g0119a0001c0001t0001g0121a0003c0014t0001g0039others(1): Show | 4 | HG01069.hp2 HG01081.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+2799_97+2800dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176707 | ||||||
| chr2:189176718
|
C | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+2790G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176718 | ||||||
| chr2:189176806
|
G | A | 2 | a0001c0001t0001g0122a0014c0020t0001g0123 | 2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.97+2702C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176806 | ||||||
| chr2:189176810
|
A | AT | 5 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(2): Show | 5 | HG01884.hp1 HG02895.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.97+2697dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176810 | ||||||
| chr2:189177035
|
C | T | 242 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(239): Show | 246 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
intron_variant | MODIFIER | c.97+2473G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177035 | ||||||
| chr2:189177668
|
G | A | 1 | a0001c0001t0008g0240 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.97+1840C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177668 | ||||||
| chr2:189177672
|
G | C | 1 | a0001c0001t0001g0124 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.97+1836C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177672 | ||||||
| chr2:189177758
|
A | G | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.97+1750T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177758 | ||||||
| chr2:189177825
|
A | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1683T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177825 | ||||||
| chr2:189177888
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.97+1620T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177888 | ||||||
| chr2:189178059
|
T | TCTTA | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1448_97+1449ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178059 | ||||||
| chr2:189178183
|
C | T | 138 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(135): Show | 141 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.97+1325G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178183 | ||||||
| chr2:189178287
|
T | C | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1221A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178287 | ||||||
| chr2:189178313
|
T | C | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.97+1195A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178313 | ||||||
| chr2:189178394
|
A | G | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+1114T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178394 | ||||||
| chr2:189178472
|
G | A | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1036C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178472 | ||||||
| chr2:189178528
|
T | C | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+980A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178528 | ||||||
| chr2:189178530
|
C | T | 2 | a0001c0012t0010g0040a0001c0012t0010g0126 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+978G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178530 | ||||||
| chr2:189178709
|
T | TA | 88 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(85): Show | 89 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.97+798dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | ||||||
| chr2:189178709
|
TA | T | 87 | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0042others(84): Show | 90 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+798delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | ||||||
| chr2:189178709
|
TAA | T | 34 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(31): Show | 34 | HG00099.hp1 HG00597.hp1 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.97+797_97+798delTT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | ||||||
| chr2:189178735
|
G | T | 4 | a0001c0001t0023g0009a0001c0007t0005g0006a0001c0007t0005g0007others(1): Show | 4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+773C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178735 | ||||||
| chr2:189178781
|
A | G | 3 | a0001c0001t0001g0004a0001c0001t0004g0005a0001c0026t0015g0003 | 3 | HG01069.hp1 HG02630.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.97+727T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178781 |