Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 672 |
| ensemblid | ENSG00000012048.25 |
| hgncid | 1100 |
| symbol | BRCA1 |
| name | BRCA1 DNA repair associated |
| refseq_nuc | NM_007294.4 |
| refseq_prot | NP_009225.1 |
| ensembl_nuc | ENST00000357654.9 |
| ensembl_prot | ENSP00000350283.3 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 43044295 |
| end | 43125364 |
| strand | - |
| ver | v1.2 |
| region | chr17:43044295-43125364 |
| region5000 | chr17:43039295-43130364 |
| regionname0 | BRCA1_chr17_43044295_43125364 |
| regionname5000 | BRCA1_chr17_43039295_43130364 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1863 | 97 | 20 | 13 | 49 | 3 | 11 | 34 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0002 | 1/0 | 1863 | 86 | 10 | 17 | 43 | 5 | 10 | 29 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0003 | 0/0 | 1863 | 58 | 52 | 4 | 0 | 0 | 2 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0004 | 0/0 | 1863 | 9 | 0 | 5 | 0 | 1 | 3 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0005 | 0/0 | 1863 | 6 | 0 | 5 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0006 | 0/0 | 1863 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0007 | 0/0 | 1863 | 2 | 0 | 0 | 0 | 1 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0008 | 0/0 | 1863 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0009 | 0/0 | 1863 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0010 | 0/0 | 1863 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0011 | 0/0 | 1863 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0012 | 0/0 | 1863 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0013 | 0/0 | 1863 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0014 | 0/0 | 1863 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0015 | 0/0 | 1863 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0016 | 0/0 | 1863 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0017 | 0/0 | 1863 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0018 | 0/0 | 19 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(14): Show |
chr17 | 43039295 | 43130364 |
| a0019 | 0/0 | 1863 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0020 | 0/0 | 1863 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| a0021 | 0/0 | 1863 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | MDLSA others(1858): Show |
chr17 | 43039295 | 43130364 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 5589 | 95 | 20 | 13 | 48 | 2 | 11 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0001c0022 | 0/0 | 5589 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0001c0024 | 0/0 | 5589 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0002c0002 | 1/0 | 5589 | 79 | 10 | 15 | 38 | 5 | 10 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0002c0005 | 0/0 | 5589 | 6 | 0 | 1 | 5 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0002c0012 | 0/0 | 5589 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0003c0003 | 0/0 | 5589 | 55 | 49 | 4 | 0 | 0 | 2 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0003c0010 | 0/0 | 5589 | 2 | 2 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0003c0018 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0004c0004 | 0/0 | 5589 | 9 | 0 | 5 | 0 | 1 | 3 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0005c0006 | 0/0 | 5589 | 6 | 0 | 5 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0006c0009 | 0/0 | 5589 | 2 | 2 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0006c0026 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0007c0008 | 0/0 | 5589 | 2 | 0 | 0 | 0 | 1 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0008c0007 | 0/0 | 5589 | 2 | 0 | 0 | 2 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0009c0023 | 0/0 | 5589 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0010c0025 | 0/0 | 5589 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0011c0015 | 0/0 | 5589 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0012c0020 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0013c0027 | 0/0 | 5589 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0014c0021 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0015c0013 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0016c0016 | 0/0 | 5589 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0017c0017 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0018c0028 | 0/0 | 5558 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5553): Show |
chr17 | 43039295 | 43130364 | ||
| a0019c0014 | 0/0 | 5589 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0020c0011 | 0/0 | 5589 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 | ||
| a0021c0019 | 0/0 | 5589 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | ATGGA others(5584): Show |
chr17 | 43039295 | 43130364 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 7086 | 90 | 20 | 10 | 47 | 2 | 10 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0001c0001t0002 | 0/0 | 7088 | 3 | 0 | 3 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0001c0001t0012 | 0/0 | 7087 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0001c0001t0013 | 0/0 | 7086 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0001c0022t0001 | 0/0 | 7086 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0001c0024t0001 | 0/0 | 7086 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0002 | 1/0 | 7088 | 65 | 4 | 12 | 36 | 5 | 7 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0003 | 0/0 | 7087 | 10 | 5 | 2 | 0 | 0 | 3 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0007 | 0/0 | 7088 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0008 | 0/0 | 7087 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0009 | 0/0 | 7086 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0002c0002t0010 | 0/0 | 7088 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0002c0005t0003 | 0/0 | 7087 | 6 | 0 | 1 | 5 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0002c0012t0003 | 0/0 | 7087 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0003c0003t0002 | 0/0 | 7088 | 21 | 19 | 0 | 0 | 0 | 2 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0003c0003t0003 | 0/0 | 7087 | 13 | 12 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0003c0003t0004 | 0/0 | 7089 | 18 | 15 | 3 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7084): Show |
chr17 | 43039295 | 43130364 |
| a0003c0003t0006 | 0/0 | 7089 | 2 | 2 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7084): Show |
chr17 | 43039295 | 43130364 |
| a0003c0003t0011 | 0/0 | 7087 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0003c0010t0002 | 0/0 | 7088 | 2 | 2 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0003c0018t0004 | 0/0 | 7089 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7084): Show |
chr17 | 43039295 | 43130364 |
| a0004c0004t0001 | 0/0 | 7086 | 9 | 0 | 5 | 0 | 1 | 3 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0005c0006t0003 | 0/0 | 7087 | 6 | 0 | 5 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0006c0009t0005 | 0/0 | 7086 | 2 | 2 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0006c0026t0005 | 0/0 | 7086 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0007c0008t0001 | 0/0 | 7086 | 2 | 0 | 0 | 0 | 1 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0008c0007t0002 | 0/0 | 7088 | 2 | 0 | 0 | 2 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0009c0023t0001 | 0/0 | 7086 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0010c0025t0001 | 0/0 | 7086 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0011c0015t0002 | 0/0 | 7088 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0012c0020t0002 | 0/0 | 7088 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0013c0027t0001 | 0/0 | 7086 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7081): Show |
chr17 | 43039295 | 43130364 |
| a0014c0021t0004 | 0/0 | 7089 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7084): Show |
chr17 | 43039295 | 43130364 |
| a0015c0013t0014 | 0/0 | 7087 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0016c0016t0002 | 0/0 | 7088 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0017c0017t0002 | 0/0 | 7088 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0018c0028t0002 | 0/0 | 7057 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7052): Show |
chr17 | 43039295 | 43130364 |
| a0019c0014t0002 | 0/0 | 7088 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7083): Show |
chr17 | 43039295 | 43130364 |
| a0020c0011t0003 | 0/0 | 7087 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7082): Show |
chr17 | 43039295 | 43130364 |
| a0021c0019t0004 | 0/0 | 7089 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | GCTGA others(7084): Show |
chr17 | 43039295 | 43130364 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0205 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0002g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0002g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0012g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0001t0013g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0022t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0001c0024t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0053 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0002g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0003g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0007g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0008g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0009g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0002t0010g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0005t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0002c0012t0003g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0002g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0001 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0003g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0004g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0006g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0006g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0003t0011g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0010t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0010t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0003c0018t0004g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0004c0004t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0005c0006t0003g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0006c0009t0005g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0006c0009t0005g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0006c0026t0005g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0007c0008t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0007c0008t0001g0265 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0008c0007t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0008c0007t0002g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0009c0023t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0010c0025t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0011c0015t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0012c0020t0002g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0013c0027t0001g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0014c0021t0004g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0015c0013t0014g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0016c0016t0002g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0017c0017t0002g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0018c0028t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0019c0014t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0020c0011t0003g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| a0021c0019t0004g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0004 | c0004 | t0001 | g0237 | EUR | GBR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00099 | hp2 | a0002 | c0002 | t0002 | g0051 | EUR | GBR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00140 | hp1 | a0002 | c0002 | t0002 | g0046 | EUR | GBR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00140 | hp2 | a0002 | c0002 | t0002 | g0024 | EUR | GBR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0243 | EUR | FIN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00280 | hp2 | a0007 | c0008 | t0001 | g0222 | EUR | FIN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00408 | hp1 | a0002 | c0002 | t0002 | g0034 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00423 | hp1 | a0009 | c0023 | t0001 | g0169 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00423 | hp2 | a0002 | c0002 | t0002 | g0077 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00438 | hp2 | a0002 | c0002 | t0002 | g0007 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00544 | hp2 | a0002 | c0002 | t0002 | g0047 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00558 | hp1 | a0002 | c0002 | t0002 | g0035 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00621 | hp2 | a0002 | c0002 | t0002 | g0076 | EAS | CHS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00639 | hp1 | a0002 | c0002 | t0002 | g0010 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0245 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00735 | hp1 | a0002 | c0002 | t0008 | g0070 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00735 | hp2 | a0003 | c0003 | t0003 | g0001 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00741 | hp1 | a0004 | c0004 | t0001 | g0241 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG00741 | hp2 | a0005 | c0006 | t0003 | g0079 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01069 | hp1 | a0010 | c0025 | t0001 | g0103 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01069 | hp2 | a0002 | c0002 | t0002 | g0041 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01070 | hp1 | a0005 | c0006 | t0003 | g0044 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0210 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01071 | hp1 | a0005 | c0006 | t0003 | g0043 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01071 | hp2 | a0002 | c0002 | t0002 | g0064 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01081 | hp1 | a0004 | c0004 | t0001 | g0238 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01081 | hp2 | a0002 | c0002 | t0002 | g0057 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01099 | hp1 | a0002 | c0002 | t0002 | g0016 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0226 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0172 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01109 | hp2 | a0003 | c0003 | t0004 | g0142 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01167 | hp1 | a0004 | c0004 | t0001 | g0250 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01167 | hp2 | a0003 | c0003 | t0004 | g0131 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01169 | hp1 | a0003 | c0003 | t0004 | g0133 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01169 | hp2 | a0002 | c0002 | t0003 | g0067 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01192 | hp1 | a0002 | c0012 | t0003 | g0078 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0266 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01243 | hp2 | a0002 | c0002 | t0003 | g0086 | AMR | PUR | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01258 | hp1 | a0002 | c0002 | t0002 | g0023 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0258 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01346 | hp1 | a0002 | c0005 | t0003 | g0032 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01346 | hp2 | a0002 | c0002 | t0002 | g0072 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01361 | hp2 | a0005 | c0006 | t0003 | g0068 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0206 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01433 | hp2 | a0005 | c0006 | t0003 | g0071 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0212 | EUR | IBS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01517 | hp2 | a0002 | c0002 | t0002 | g0095 | EUR | IBS | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01884 | hp1 | a0003 | c0003 | t0004 | g0152 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01884 | hp2 | a0012 | c0020 | t0002 | g0151 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01891 | hp1 | a0003 | c0003 | t0002 | g0143 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01952 | hp1 | a0002 | c0002 | t0002 | g0049 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01952 | hp2 | a0004 | c0004 | t0001 | g0251 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01975 | hp1 | a0002 | c0002 | t0002 | g0052 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02004 | hp1 | a0004 | c0004 | t0001 | g0239 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02004 | hp2 | a0002 | c0002 | t0002 | g0039 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02015 | hp1 | a0002 | c0002 | t0002 | g0060 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0261 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02027 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0254 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02040 | hp2 | a0002 | c0002 | t0002 | g0081 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0104 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02055 | hp2 | a0003 | c0003 | t0004 | g0158 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02071 | hp1 | a0002 | c0002 | t0002 | g0065 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02071 | hp2 | a0001 | c0001 | t0012 | g0180 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0262 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02074 | hp2 | a0002 | c0002 | t0002 | g0014 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02145 | hp1 | a0003 | c0003 | t0003 | g0109 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02145 | hp2 | a0003 | c0003 | t0004 | g0160 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02155 | hp1 | a0002 | c0002 | t0002 | g0058 | EAS | CDX | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0248 | EAS | CDX | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | CDX | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02165 | hp2 | a0002 | c0005 | t0003 | g0029 | EAS | CDX | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02257 | hp1 | a0002 | c0002 | t0002 | g0094 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02257 | hp2 | a0003 | c0003 | t0006 | g0116 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02258 | hp1 | a0003 | c0003 | t0002 | g0159 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0270 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02273 | hp1 | a0001 | c0001 | t0002 | g0209 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02273 | hp2 | a0002 | c0002 | t0002 | g0075 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02280 | hp1 | a0003 | c0003 | t0003 | g0001 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02280 | hp2 | a0003 | c0003 | t0002 | g0141 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02300 | hp1 | a0002 | c0002 | t0002 | g0020 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02451 | hp1 | a0003 | c0003 | t0004 | g0149 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02451 | hp2 | a0003 | c0010 | t0002 | g0164 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02523 | hp2 | a0002 | c0002 | t0002 | g0009 | EAS | KHV | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0246 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02572 | hp2 | a0003 | c0003 | t0003 | g0129 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02602 | hp1 | a0002 | c0002 | t0002 | g0004 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02602 | hp2 | a0001 | c0001 | t0013 | g0204 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02615 | hp1 | a0006 | c0009 | t0005 | g0272 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02615 | hp2 | a0003 | c0003 | t0006 | g0134 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02622 | hp1 | a0003 | c0003 | t0002 | g0113 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02622 | hp2 | a0003 | c0003 | t0004 | g0162 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0259 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02630 | hp2 | a0003 | c0003 | t0002 | g0138 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02647 | hp2 | a0002 | c0002 | t0003 | g0096 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02683 | hp1 | a0004 | c0004 | t0001 | g0256 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02683 | hp2 | a0013 | c0027 | t0001 | g0268 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0218 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02698 | hp2 | a0005 | c0006 | t0003 | g0082 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02717 | hp1 | a0003 | c0003 | t0002 | g0140 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02717 | hp2 | a0003 | c0003 | t0002 | g0114 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02723 | hp1 | a0002 | c0002 | t0003 | g0097 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02723 | hp2 | a0003 | c0018 | t0004 | g0111 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02735 | hp1 | a0002 | c0002 | t0002 | g0027 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0221 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02809 | hp2 | a0003 | c0010 | t0002 | g0163 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02818 | hp1 | a0003 | c0003 | t0002 | g0146 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02818 | hp2 | a0003 | c0003 | t0003 | g0125 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02886 | hp1 | a0002 | c0002 | t0009 | g0099 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02886 | hp2 | a0003 | c0003 | t0004 | g0136 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0232 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02895 | hp2 | a0014 | c0021 | t0004 | g0148 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0229 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02896 | hp2 | a0003 | c0003 | t0004 | g0120 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02922 | hp1 | a0003 | c0003 | t0004 | g0153 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02922 | hp2 | a0003 | c0003 | t0004 | g0118 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0105 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02976 | hp2 | a0003 | c0003 | t0003 | g0122 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03041 | hp1 | a0003 | c0003 | t0002 | g0145 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03041 | hp2 | a0003 | c0003 | t0003 | g0128 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03098 | hp1 | a0003 | c0003 | t0011 | g0110 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03098 | hp2 | a0003 | c0003 | t0002 | g0165 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03130 | hp1 | a0003 | c0003 | t0002 | g0121 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03130 | hp2 | a0003 | c0003 | t0002 | g0132 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0269 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03139 | hp2 | a0003 | c0003 | t0003 | g0126 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03195 | hp1 | a0003 | c0003 | t0003 | g0123 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03195 | hp2 | a0003 | c0003 | t0002 | g0161 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03209 | hp1 | a0003 | c0003 | t0004 | g0137 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03209 | hp2 | a0002 | c0002 | t0003 | g0098 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03225 | hp1 | a0015 | c0013 | t0014 | g0101 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03225 | hp2 | a0003 | c0003 | t0004 | g0112 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03239 | hp1 | a0016 | c0016 | t0002 | g0083 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0214 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03486 | hp1 | a0017 | c0017 | t0002 | g0119 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03486 | hp2 | a0003 | c0003 | t0004 | g0102 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03490 | hp1 | a0004 | c0004 | t0001 | g0203 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03490 | hp2 | a0002 | c0002 | t0003 | g0025 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03492 | hp1 | a0004 | c0004 | t0001 | g0240 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03492 | hp2 | a0002 | c0002 | t0003 | g0066 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0260 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03516 | hp2 | a0003 | c0003 | t0003 | g0117 | AFR | ESN | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03540 | hp1 | a0003 | c0003 | t0003 | g0127 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0106 | AFR | GWD | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03579 | hp1 | a0003 | c0003 | t0002 | g0150 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0199 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0171 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03669 | hp2 | a0002 | c0002 | t0003 | g0042 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03688 | hp1 | a0002 | c0002 | t0002 | g0012 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0201 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03704 | hp1 | a0007 | c0008 | t0001 | g0265 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03704 | hp2 | a0002 | c0002 | t0002 | g0040 | SAS | PJL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03831 | hp1 | a0002 | c0002 | t0002 | g0069 | SAS | BEB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0175 | SAS | BEB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0213 | SAS | BEB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03834 | hp2 | a0002 | c0002 | t0002 | g0055 | SAS | BEB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG04199 | hp1 | a0002 | c0002 | t0002 | g0084 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG04199 | hp2 | a0003 | c0003 | t0002 | g0115 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0194 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG04204 | hp2 | a0003 | c0003 | t0002 | g0157 | SAS | STU | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18522 | hp1 | a0006 | c0026 | t0005 | g0274 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18522 | hp2 | a0003 | c0003 | t0002 | g0144 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18906 | hp1 | a0003 | c0003 | t0003 | g0130 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0217 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18939 | hp1 | a0002 | c0002 | t0002 | g0085 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18940 | hp2 | a0002 | c0002 | t0002 | g0015 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18944 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18947 | hp1 | a0002 | c0002 | t0002 | g0036 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18948 | hp2 | a0002 | c0002 | t0002 | g0063 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18951 | hp1 | a0002 | c0002 | t0002 | g0089 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18959 | hp2 | a0019 | c0014 | t0002 | g0048 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18960 | hp1 | a0002 | c0005 | t0003 | g0031 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18962 | hp1 | a0002 | c0005 | t0003 | g0017 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18962 | hp2 | a0001 | c0024 | t0001 | g0230 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18963 | hp2 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18964 | hp1 | a0002 | c0002 | t0002 | g0061 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18964 | hp2 | a0002 | c0002 | t0002 | g0093 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18969 | hp2 | a0002 | c0002 | t0002 | g0019 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18971 | hp2 | a0002 | c0005 | t0003 | g0030 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18974 | hp1 | a0008 | c0007 | t0002 | g0018 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18977 | hp1 | a0002 | c0002 | t0002 | g0013 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18981 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18983 | hp2 | a0002 | c0002 | t0002 | g0074 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18992 | hp2 | a0002 | c0002 | t0007 | g0021 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18998 | hp2 | a0002 | c0002 | t0002 | g0038 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18999 | hp2 | a0002 | c0002 | t0002 | g0087 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19003 | hp2 | a0002 | c0002 | t0002 | g0050 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19004 | hp1 | a0002 | c0005 | t0003 | g0005 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19005 | hp1 | a0002 | c0002 | t0002 | g0080 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19007 | hp2 | a0002 | c0002 | t0002 | g0092 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19009 | hp2 | a0002 | c0002 | t0002 | g0090 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19030 | hp1 | a0003 | c0003 | t0002 | g0275 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0263 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0219 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0255 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19056 | hp1 | a0002 | c0002 | t0010 | g0054 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19064 | hp2 | a0002 | c0002 | t0002 | g0073 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19079 | hp1 | a0002 | c0002 | t0002 | g0062 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19080 | hp1 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19081 | hp2 | a0002 | c0002 | t0002 | g0056 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19083 | hp1 | a0008 | c0007 | t0002 | g0006 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19086 | hp2 | a0020 | c0011 | t0003 | g0033 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA19240 | hp2 | a0003 | c0003 | t0004 | g0154 | AFR | YRI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20129 | hp1 | a0002 | c0002 | t0002 | g0022 | AFR | ASW | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20129 | hp2 | a0006 | c0009 | t0005 | g0273 | AFR | ASW | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20805 | hp1 | a0002 | c0002 | t0002 | g0026 | EUR | TSI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20805 | hp2 | a0001 | c0022 | t0001 | g0223 | EUR | TSI | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0215 | SAS | GIH | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0264 | SAS | GIH | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01123 | hp1 | a0001 | c0001 | t0002 | g0257 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG01123 | hp2 | a0011 | c0015 | t0002 | g0028 | AMR | CLM | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02109 | hp1 | a0003 | c0003 | t0002 | g0147 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02109 | hp2 | a0002 | c0002 | t0002 | g0045 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02559 | hp1 | a0003 | c0003 | t0002 | g0139 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG02559 | hp2 | a0002 | c0002 | t0003 | g0091 | AFR | ACB | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03471 | hp1 | a0003 | c0003 | t0004 | g0135 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG03471 | hp2 | a0002 | c0002 | t0003 | g0037 | AFR | MSL | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG06807 | hp1 | a0003 | c0003 | t0004 | g0155 | AFR | USA | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0208 | AFR | USA | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18955 | hp1 | a0018 | c0028 | t0002 | g0100 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0267 | EAS | JPT | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20300 | hp1 | a0002 | c0002 | t0002 | g0059 | AFR | USA | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA20300 | hp2 | a0021 | c0019 | t0004 | g0271 | AFR | USA | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA21309 | hp1 | a0003 | c0003 | t0002 | g0156 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| NA21309 | hp2 | a0003 | c0003 | t0003 | g0124 | AFR | LWK | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0205 | REF | REF | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0002 | g0053 | REF | REF | BRCA1_chr17_43039295_43130364 | BRCA1 | chr17 | 43039295 | 43130364 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:43070958 | C | T | 1 | a0007 | 2 | HG00280.hp2 HG03704.hp1 |
missense_variant | MODERATE | c.4956G>A | p.Met1652Ile | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/23 | 5069/7088 | 4956/5592 | 1652/1863 | chr17 | 43070958 | |||
| chr17:43070971 | T | C | 1 | a0009 | 1 | HG00423.hp1 | missense_variant | MODERATE | c.4943A>G | p.Lys1648Arg | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/23 | 5056/7088 | 4943/5592 | 1648/1863 | chr17 | 43070971 | |||
| chr17:43071031 | A | G | 1 | a0008 | 2 | NA18974.hp1 NA19083.hp1 |
missense_variant | MODERATE | c.4883T>C | p.Met1628Thr | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/23 | 4996/7088 | 4883/5592 | 1628/1863 | chr17 | 43071031 | |||
| chr17:43071077 | T | C | 10 | a0001 a0004 a0006 others(7): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
missense_variant | MODERATE | c.4837A>G | p.Ser1613Gly | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/23 | 4950/7088 | 4837/5592 | 1613/1863 | chr17 | 43071077 | |||
| chr17:43071223 | A | G | 1 | a0021 | 1 | NA20300.hp2 | missense_variant | MODERATE | c.4691T>C | p.Leu1564Pro | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/23 | 4804/7088 | 4691/5592 | 1564/1863 | chr17 | 43071223 | |||
| chr17:43091983 | T | C | 8 | a0001 a0004 a0006 others(5): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
missense_variant | MODERATE | c.3548A>G | p.Lys1183Arg | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 3661/7088 | 3548/5592 | 1183/1863 | chr17 | 43091983 | |||
| chr17:43092113 | T | C | 1 | a0012 | 1 | HG01884.hp2 | missense_variant | MODERATE | c.3418A>G | p.Ser1140Gly | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 3531/7088 | 3418/5592 | 1140/1863 | chr17 | 43092113 | |||
| chr17:43092412 | C | T | 1 | a0011 | 1 | HG01123.hp2 | missense_variant | MODERATE | c.3119G>A | p.Ser1040Asn | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 3232/7088 | 3119/5592 | 1040/1863 | chr17 | 43092412 | |||
| chr17:43092418 | T | C | 6 | a0001 a0004 a0007 others(3): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
missense_variant | MODERATE | c.3113A>G | p.Glu1038Gly | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 3226/7088 | 3113/5592 | 1038/1863 | chr17 | 43092418 | |||
| chr17:43092793 | T | C | 1 | a0010 | 1 | HG01069.hp1 | missense_variant | MODERATE | c.2738A>G | p.Asn913Ser | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2851/7088 | 2738/5592 | 913/1863 | chr17 | 43092793 | |||
| chr17:43092919 | G | A | 13 | a0001 a0003 a0004 others(10): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
missense_variant | MODERATE | c.2612C>T | p.Pro871Leu | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2725/7088 | 2612/5592 | 871/1863 | chr17 | 43092919 | |||
| chr17:43092965 | A | G | 1 | a0019 | 1 | NA18959.hp2 | missense_variant | MODERATE | c.2566T>C | p.Tyr856His | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2679/7088 | 2566/5592 | 856/1863 | chr17 | 43092965 | |||
| chr17:43093010 | G | A | 1 | a0014 | 1 | HG02895.hp2 | missense_variant | MODERATE | c.2521C>T | p.Arg841Trp | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2634/7088 | 2521/5592 | 841/1863 | chr17 | 43093010 | |||
| chr17:43093073 | T | C | 1 | a0006 | 3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
missense_variant | MODERATE | c.2458A>G | p.Lys820Glu | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2571/7088 | 2458/5592 | 820/1863 | chr17 | 43093073 | |||
| chr17:43093245 | T | A | 1 | a0013 | 1 | HG02683.hp2 | missense_variant | MODERATE | c.2286A>T | p.Arg762Ser | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2399/7088 | 2286/5592 | 762/1863 | chr17 | 43093245 | |||
| chr17:43093454 | C | T | 1 | a0004 | 9 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(6): Show |
missense_variant | MODERATE | c.2077G>A | p.Asp693Asn | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2190/7088 | 2077/5592 | 693/1863 | chr17 | 43093454 | |||
| chr17:43094464 | T | C | 1 | a0005 | 6 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(3): Show |
missense_variant | MODERATE | c.1067A>G | p.Gln356Arg | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 1180/7088 | 1067/5592 | 356/1863 | chr17 | 43094464 | |||
| chr17:43095890 | G | A | 1 | a0020 | 1 | NA19086.hp2 | missense_variant | MODERATE | c.626C>T | p.Pro209Leu | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/23 | 739/7088 | 626/5592 | 209/1863 | chr17 | 43095890 | |||
| chr17:43097280 | G | T | 1 | a0015 | 1 | HG03225.hp1 | missense_variant | MODERATE | c.557C>A | p.Ser186Tyr | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/23 | 670/7088 | 557/5592 | 186/1863 | chr17 | 43097280 | |||
| chr17:43124023 | GGACACTC others(24): Show |
G | 1 | a0018 | 1 | NA18955.hp1 | frameshift_variant | HIGH | c.43_73delATTAATGCTA others(21): Show |
p.Ile15fs | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/23 | 186/7088 | 43/5592 | 15/1863 | chr17 | 43124023 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:43082414 | T | C | 1 | a0001c0024 | 1 | NA18962.hp2 | synonymous_variant | LOW | c.4347A>G | p.Thr1449Thr | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/23 | 4460/7088 | 4347/5592 | 1449/1863 | chr17 | 43082414 | |||
| chr17:43082453 | A | G | 9 | a0001c0001 a0001c0022 a0001c0024 others(6): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
synonymous_variant | LOW | c.4308T>C | p.Ser1436Ser | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/23 | 4421/7088 | 4308/5592 | 1436/1863 | chr17 | 43082453 | |||
| chr17:43091016 | C | T | 1 | a0017c0017 | 1 | HG03486.hp1 | synonymous_variant | LOW | c.4113G>A | p.Gly1371Gly | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/23 | 4226/7088 | 4113/5592 | 1371/1863 | chr17 | 43091016 | |||
| chr17:43092717 | T | C | 1 | a0006c0026 | 1 | NA18522.hp1 | synonymous_variant | LOW | c.2814A>G | p.Pro938Pro | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2927/7088 | 2814/5592 | 938/1863 | chr17 | 43092717 | |||
| chr17:43093220 | A | G | 8 | a0001c0001 a0001c0022 a0001c0024 others(5): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
synonymous_variant | LOW | c.2311T>C | p.Leu771Leu | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2424/7088 | 2311/5592 | 771/1863 | chr17 | 43093220 | |||
| chr17:43093236 | C | T | 1 | a0001c0022 | 1 | NA20805.hp2 | synonymous_variant | LOW | c.2295G>A | p.Glu765Glu | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2408/7088 | 2295/5592 | 765/1863 | chr17 | 43093236 | |||
| chr17:43093449 | G | A | 11 | a0001c0001 a0001c0022 a0001c0024 others(8): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
synonymous_variant | LOW | c.2082C>T | p.Ser694Ser | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/23 | 2195/7088 | 2082/5592 | 694/1863 | chr17 | 43093449 | |||
| chr17:43104197 | A | C | 1 | a0002c0012 | 1 | HG01192.hp1 | synonymous_variant | LOW | c.366T>G | p.Val122Val | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/23 | 479/7088 | 366/5592 | 122/1863 | chr17 | 43104197 | |||
| chr17:43115746 | C | T | 2 | a0002c0005 a0020c0011 |
7 | HG01346.hp1 HG02165.hp2 NA18960.hp1 others(4): Show |
synonymous_variant | LOW | c.114G>A | p.Lys38Lys | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/23 | 227/7088 | 114/5592 | 38/1863 | chr17 | 43115746 | |||
| chr17:43124076 | G | A | 1 | a0003c0010 | 2 | HG02451.hp2 HG02809.hp2 |
synonymous_variant | LOW | c.21C>T | p.Arg7Arg | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/23 | 134/7088 | 21/5592 | 7/1863 | chr17 | 43124076 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:43044346 | C | T | 1 | a0002c0002t0008 | 1 | HG00735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1332G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 1332 | chr17 | 43044346 | ||||||
| chr17:43044351 | C | T | 1 | a0001c0001t0013 | 1 | HG02602.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1327G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 1327 | chr17 | 43044351 | ||||||
| chr17:43044391 | G | A | 13 | a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(10): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
3_prime_UTR_variant | MODIFIER | c.*1287C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 1287 | chr17 | 43044391 | ||||||
| chr17:43044565 | C | T | 1 | a0015c0013t0014 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1113G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 1113 | chr17 | 43044565 | ||||||
| chr17:43044608 | G | C | 1 | a0002c0002t0007 | 1 | NA18992.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1070C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 1070 | chr17 | 43044608 | ||||||
| chr17:43044804 | C | CT | 5 | a0003c0003t0004 a0003c0003t0006 a0003c0018t0004 others(2): Show |
23 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*873dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 873 | chr17 | 43044804 | ||||||
| chr17:43044804 | CT | C | 10 | a0001c0001t0012 a0002c0002t0003 a0002c0002t0008 others(7): Show |
41 | HG00735.hp1 HG00735.hp2 HG00741.hp2 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*873delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 873 | chr17 | 43044804 | ||||||
| chr17:43044804 | CTT | C | 12 | a0001c0001t0001 a0001c0001t0013 a0001c0022t0001 others(9): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
3_prime_UTR_variant | MODIFIER | c.*872_*873delAA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 872 | chr17 | 43044804 | ||||||
| chr17:43044897 | G | A | 1 | a0003c0003t0006 | 2 | HG02257.hp2 HG02615.hp2 |
3_prime_UTR_variant | MODIFIER | c.*781C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 781 | chr17 | 43044897 | ||||||
| chr17:43045096 | G | A | 1 | a0002c0002t0010 | 1 | NA19056.hp1 | 3_prime_UTR_variant | MODIFIER | c.*582C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 582 | chr17 | 43045096 | ||||||
| chr17:43045250 | T | C | 1 | a0003c0003t0011 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*428A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 428 | chr17 | 43045250 | ||||||
| chr17:43045257 | C | A | 10 | a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(7): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
3_prime_UTR_variant | MODIFIER | c.*421G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 421 | chr17 | 43045257 | ||||||
| chr17:43045642 | G | C | 3 | a0006c0009t0005 a0006c0026t0005 a0015c0013t0014 |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*36C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 23/23 | 36 | chr17 | 43045642 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:43045812 | G | T | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.5468-10C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43045812 | |||||||
| chr17:43045922 | A | AT | 8 | a0001c0001t0001g0198 a0002c0002t0002g0050 a0002c0002t0003g0025 others(5): Show |
8 | HG01192.hp1 HG02615.hp1 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.5468-121dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43045922 | |||||||
| chr17:43045922 | ATTTTTTT others(300): Show |
A | 1 | a0001c0001t0013g0204 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5468-427_5468-121d others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43045922 | |||||||
| chr17:43045945 | C | T | 1 | a0001c0001t0001g0270 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5468-143G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43045945 | |||||||
| chr17:43045993 | G | A | 1 | a0002c0002t0002g0023 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.5468-191C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43045993 | |||||||
| chr17:43046002 | A | G | 1 | a0002c0002t0002g0087 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.5468-200T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046002 | |||||||
| chr17:43046222 | C | CT | 97 | a0001c0001t0001g0107 a0001c0001t0001g0167 a0001c0001t0001g0168 others(94): Show |
97 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show |
intron_variant | MODIFIER | c.5468-421dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046222 | |||||||
| chr17:43046222 | C | CTT | 7 | a0002c0002t0003g0025 a0002c0002t0003g0086 a0003c0003t0002g0143 others(4): Show |
7 | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.5468-422_5468-421d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046222 | |||||||
| chr17:43046222 | CT | C | 12 | a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0269 others(9): Show |
12 | HG00423.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.5468-421delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046222 | |||||||
| chr17:43046222 | CTTTTT | C | 12 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(9): Show |
13 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.5468-425_5468-421d others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046222 | |||||||
| chr17:43046222 | CTTTTTTT others(4): Show |
C | 1 | a0002c0002t0003g0066 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.5468-431_5468-421d others(13): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046222 | |||||||
| chr17:43046253 | G | A | 2 | a0007c0008t0001g0222 a0007c0008t0001g0265 |
2 | HG00280.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.5468-451C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046253 | |||||||
| chr17:43046264 | C | G | 1 | a0003c0003t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5468-462G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046264 | |||||||
| chr17:43046604 | A | G | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.5468-802T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046604 | |||||||
| chr17:43046757 | C | CA | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.5467+885dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046757 | |||||||
| chr17:43046931 | G | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5467+712C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43046931 | |||||||
| chr17:43047106 | T | C | 39 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(36): Show |
39 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(36): Show |
intron_variant | MODIFIER | c.5467+537A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43047106 | |||||||
| chr17:43047161 | G | A | 11 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(8): Show |
12 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.5467+482C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | 43047161 | |||||||
| chr17:43047896 | T | C | 173 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(170): Show |
174 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.5407-193A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43047896 | |||||||
| chr17:43048090 | C | T | 1 | a0001c0001t0001g0177 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.5407-387G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048090 | |||||||
| chr17:43048092 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5407-389A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048092 | |||||||
| chr17:43048170 | A | G | 1 | a0001c0001t0001g0210 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.5407-467T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048170 | |||||||
| chr17:43048196 | C | T | 1 | a0004c0004t0001g0251 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.5407-493G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048196 | |||||||
| chr17:43048269 | C | G | 1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5407-566G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048269 | |||||||
| chr17:43048312 | C | T | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.5407-609G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048312 | |||||||
| chr17:43048506 | TTC | T | 4 | a0002c0002t0002g0011 a0002c0002t0002g0056 a0002c0002t0002g0063 others(1): Show |
4 | NA18948.hp2 NA18983.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.5406+613_5406+614d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048506 | |||||||
| chr17:43048518 | C | CT | 20 | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 others(17): Show |
20 | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.5406+602dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048518 | |||||||
| chr17:43048518 | CT | C | 8 | a0001c0001t0001g0186 a0002c0002t0002g0041 a0002c0002t0007g0021 others(5): Show |
8 | HG01069.hp2 HG01167.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.5406+602delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048518 | |||||||
| chr17:43048520 | T | C | 107 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5406+601A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048520 | |||||||
| chr17:43048521 | T | C | 5 | a0001c0001t0001g0186 a0006c0009t0005g0272 a0006c0009t0005g0273 others(2): Show |
5 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.5406+600A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048521 | |||||||
| chr17:43048614 | A | C | 1 | a0003c0003t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5406+507T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048614 | |||||||
| chr17:43048687 | GT | G | 106 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(103): Show |
106 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.5406+433delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048687 | |||||||
| chr17:43048825 | C | T | 4 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(1): Show |
4 | HG02055.hp1 HG02976.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.5406+296G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048825 | |||||||
| chr17:43048930 | A | T | 1 | a0003c0003t0004g0120 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5406+191T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43048930 | |||||||
| chr17:43049053 | A | G | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5406+68T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43049053 | |||||||
| chr17:43049113 | A | G | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | splice_region_variant&intron_variant | LOW | c.5406+8T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 21/22 | chr17 | 43049113 | |||||||
| chr17:43049347 | T | C | 9 | a0004c0004t0001g0203 a0004c0004t0001g0237 a0004c0004t0001g0238 others(6): Show |
9 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.5333-153A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049347 | |||||||
| chr17:43049415 | G | T | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.5333-221C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049415 | |||||||
| chr17:43049448 | T | C | 5 | a0002c0002t0002g0035 a0002c0002t0002g0065 a0002c0002t0002g0077 others(2): Show |
5 | HG00423.hp2 HG00558.hp1 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.5333-254A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049448 | |||||||
| chr17:43049498 | C | T | 1 | a0002c0002t0002g0013 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.5333-304G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049498 | |||||||
| chr17:43049685 | C | T | 108 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(105): Show |
108 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.5333-491G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049685 | |||||||
| chr17:43049831 | A | G | 1 | a0001c0001t0001g0184 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.5333-637T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43049831 | |||||||
| chr17:43050473 | C | T | 2 | a0003c0003t0002g0156 a0003c0003t0002g0159 |
2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.5332+590G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050473 | |||||||
| chr17:43050562 | G | A | 23 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(20): Show |
23 | HG00280.hp1 HG01069.hp1 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.5332+501C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050562 | |||||||
| chr17:43050573 | A | T | 14 | a0003c0003t0002g0114 a0003c0003t0004g0112 a0003c0003t0004g0120 others(11): Show |
14 | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.5332+490T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050573 | |||||||
| chr17:43050615 | AAAG | A | 107 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5332+445_5332+447d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050615 | |||||||
| chr17:43050620 | A | G | 1 | a0001c0001t0001g0258 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.5332+443T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050620 | |||||||
| chr17:43050648 | C | A | 2 | a0002c0002t0002g0015 a0002c0002t0002g0093 |
2 | NA18940.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.5332+415G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050648 | |||||||
| chr17:43050671 | G | A | 174 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(171): Show |
175 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.5332+392C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050671 | |||||||
| chr17:43050878 | T | G | 2 | a0001c0001t0001g0269 a0001c0001t0001g0270 |
2 | HG02258.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.5332+185A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 20/22 | chr17 | 43050878 | |||||||
| chr17:43051308 | T | A | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-191A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43051308 | |||||||
| chr17:43051574 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-457A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43051574 | |||||||
| chr17:43051581 | C | T | 1 | a0002c0002t0002g0084 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5278-464G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43051581 | |||||||
| chr17:43051983 | C | G | 1 | a0002c0005t0003g0029 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.5278-866G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43051983 | |||||||
| chr17:43052001 | T | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5278-884A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052001 | |||||||
| chr17:43052042 | G | A | 1 | a0002c0002t0002g0047 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.5278-925C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052042 | |||||||
| chr17:43052188 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5278-1071G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052188 | |||||||
| chr17:43052344 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5278-1227C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052344 | |||||||
| chr17:43052360 | A | G | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-1243T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052360 | |||||||
| chr17:43052373 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-1256A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052373 | |||||||
| chr17:43052636 | T | C | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5278-1519A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052636 | |||||||
| chr17:43052761 | T | C | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5278-1644A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052761 | |||||||
| chr17:43052778 | GAAACACA others(3): Show |
G | 1 | a0001c0001t0001g0219 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5278-1671_5278-166 others(14): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052778 | |||||||
| chr17:43052780 | A | AAC | 38 | a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0016 others(35): Show |
38 | HG00140.hp1 HG00408.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.5278-1665_5278-166 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052780 | |||||||
| chr17:43052780 | A | AACAC | 14 | a0002c0002t0002g0007 a0002c0002t0002g0088 a0002c0002t0003g0066 others(11): Show |
14 | HG00438.hp2 HG01169.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.5278-1667_5278-166 others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052780 | |||||||
| chr17:43052780 | A | AACACAC | 7 | a0002c0002t0003g0037 a0002c0002t0003g0042 a0002c0002t0003g0067 others(4): Show |
7 | HG01169.hp2 HG01346.hp1 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.5278-1669_5278-166 others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052780 | |||||||
| chr17:43052780 | A | AACACACA others(3): Show |
1 | a0003c0003t0002g0143 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5278-1673_5278-166 others(14): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052780 | |||||||
| chr17:43052793 | A | G | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5278-1676T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052793 | |||||||
| chr17:43052803 | ACACACAC others(15): Show |
A | 8 | a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0217 others(5): Show |
8 | HG01243.hp1 HG02630.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.5278-1708_5278-168 others(26): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052803 | |||||||
| chr17:43052805 | ACACACAC others(13): Show |
A | 1 | a0001c0001t0001g0260 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5278-1708_5278-168 others(24): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052805 | |||||||
| chr17:43052813 | ACACACAC others(5): Show |
A | 1 | a0002c0002t0002g0014 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.5278-1708_5278-169 others(16): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052813 | |||||||
| chr17:43052815 | ACACACAC others(3): Show |
A | 3 | a0001c0001t0001g0108 a0001c0001t0001g0199 a0003c0003t0004g0154 |
3 | HG01891.hp2 HG03579.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5278-1708_5278-169 others(14): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052815 | |||||||
| chr17:43052817 | ACACACAC others(1): Show |
A | 6 | a0001c0001t0001g0194 a0001c0001t0001g0211 a0002c0002t0002g0027 others(3): Show |
6 | HG01069.hp1 HG01884.hp1 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.5278-1708_5278-170 others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052817 | |||||||
| chr17:43052819 | ACACACT | A | 53 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(50): Show |
53 | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.5278-1708_5278-170 others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052819 | |||||||
| chr17:43052821 | ACACT | A | 46 | a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0178 others(43): Show |
46 | HG00099.hp1 HG00408.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.5278-1708_5278-170 others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052821 | |||||||
| chr17:43052823 | ACT | A | 36 | a0001c0001t0001g0166 a0001c0001t0001g0191 a0001c0001t0001g0192 others(33): Show |
36 | HG00140.hp2 HG00423.hp2 HG00621.hp1 others(33): Show |
intron_variant | MODIFIER | c.5278-1708_5278-170 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052823 | |||||||
| chr17:43052825 | T | A | 118 | a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0242 others(115): Show |
119 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
intron_variant | MODIFIER | c.5278-1708A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052825 | |||||||
| chr17:43052825 | T | C | 1 | a0002c0002t0010g0054 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.5278-1708A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052825 | |||||||
| chr17:43052839 | G | A | 12 | a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0002g0257 others(9): Show |
12 | HG00140.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.5278-1722C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052839 | |||||||
| chr17:43052878 | G | GT | 46 | a0001c0001t0001g0104 a0001c0001t0001g0262 a0001c0001t0013g0204 others(43): Show |
46 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(43): Show |
intron_variant | MODIFIER | c.5278-1762dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052878 | |||||||
| chr17:43052883 | T | G | 23 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(20): Show |
23 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(20): Show |
intron_variant | MODIFIER | c.5278-1766A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052883 | |||||||
| chr17:43052971 | G | T | 1 | a0001c0001t0001g0170 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.5278-1854C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052971 | |||||||
| chr17:43052991 | C | T | 3 | a0003c0010t0002g0163 a0003c0010t0002g0164 a0012c0020t0002g0151 |
3 | HG01884.hp2 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.5278-1874G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43052991 | |||||||
| chr17:43053353 | GT | G | 9 | a0001c0001t0001g0178 a0001c0001t0001g0247 a0001c0001t0001g0248 others(6): Show |
9 | HG02027.hp1 HG02056.hp1 HG02071.hp2 others(6): Show |
intron_variant | MODIFIER | c.5278-2237delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053353 | |||||||
| chr17:43053649 | A | C | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5278-2532T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053649 | |||||||
| chr17:43053670 | A | C | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5278-2553T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053670 | |||||||
| chr17:43053704 | G | A | 47 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(44): Show |
47 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(44): Show |
intron_variant | MODIFIER | c.5278-2587C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053704 | |||||||
| chr17:43053755 | G | A | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-2638C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053755 | |||||||
| chr17:43053829 | C | T | 2 | a0007c0008t0001g0265 a0009c0023t0001g0169 |
2 | HG00423.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.5278-2712G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053829 | |||||||
| chr17:43053906 | T | G | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5278-2789A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053906 | |||||||
| chr17:43053909 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.5278-2792G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053909 | |||||||
| chr17:43053924 | A | G | 158 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(155): Show |
158 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
intron_variant | MODIFIER | c.5278-2807T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053924 | |||||||
| chr17:43053983 | A | G | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5278-2866T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43053983 | |||||||
| chr17:43054039 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5278-2922A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054039 | |||||||
| chr17:43054080 | C | T | 10 | a0003c0003t0002g0113 a0003c0003t0002g0138 a0003c0003t0002g0139 others(7): Show |
10 | HG01109.hp2 HG01891.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.5278-2963G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054080 | |||||||
| chr17:43054114 | A | G | 1 | a0001c0001t0001g0213 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.5277+2938T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054114 | |||||||
| chr17:43054578 | T | G | 1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5277+2474A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054578 | |||||||
| chr17:43054613 | A | T | 2 | a0007c0008t0001g0222 a0007c0008t0001g0265 |
2 | HG00280.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.5277+2439T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054613 | |||||||
| chr17:43054744 | AT | A | 186 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(183): Show |
187 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.5277+2307delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054744 | |||||||
| chr17:43054835 | T | C | 52 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(49): Show |
52 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(49): Show |
intron_variant | MODIFIER | c.5277+2217A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43054835 | |||||||
| chr17:43055023 | C | G | 1 | a0001c0001t0001g0193 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.5277+2029G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43055023 | |||||||
| chr17:43055445 | C | A | 6 | a0005c0006t0003g0043 a0005c0006t0003g0044 a0005c0006t0003g0068 others(3): Show |
6 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.5277+1607G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43055445 | |||||||
| chr17:43055643 | C | T | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5277+1409G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43055643 | |||||||
| chr17:43055663 | G | GTAATCCC others(4): Show |
1 | a0002c0002t0002g0050 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.5277+1388_5277+138 others(15): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43055663 | |||||||
| chr17:43055742 | C | T | 1 | a0001c0001t0001g0199 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5277+1310G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43055742 | |||||||
| chr17:43056174 | C | CT | 10 | a0002c0002t0002g0085 a0003c0003t0002g0113 a0003c0003t0002g0138 others(7): Show |
10 | HG01891.hp1 HG02280.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.5277+877dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056174 | |||||||
| chr17:43056199 | A | C | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5277+853T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056199 | |||||||
| chr17:43056200 | T | A | 1 | a0001c0024t0001g0230 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.5277+852A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056200 | |||||||
| chr17:43056243 | C | T | 1 | a0005c0006t0003g0079 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.5277+809G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056243 | |||||||
| chr17:43056288 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5277+764G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056288 | |||||||
| chr17:43056330 | C | T | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.5277+722G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056330 | |||||||
| chr17:43056450 | A | G | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.5277+602T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056450 | |||||||
| chr17:43056675 | G | GA | 11 | a0004c0004t0001g0203 a0004c0004t0001g0237 a0004c0004t0001g0238 others(8): Show |
11 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.5277+376dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056675 | |||||||
| chr17:43056737 | A | G | 1 | a0005c0006t0003g0082 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5277+315T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 19/22 | chr17 | 43056737 | |||||||
| chr17:43057356 | A | G | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5194-221T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057356 | |||||||
| chr17:43057558 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5194-423C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057558 | |||||||
| chr17:43057561 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5194-426A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057561 | |||||||
| chr17:43057601 | C | T | 4 | a0002c0002t0002g0063 a0003c0003t0002g0147 a0003c0003t0004g0149 others(1): Show |
4 | HG02109.hp1 HG02451.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.5194-466G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057601 | |||||||
| chr17:43057610 | C | A | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5194-475G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057610 | |||||||
| chr17:43057864 | C | A | 1 | a0001c0001t0001g0220 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.5194-729G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43057864 | |||||||
| chr17:43058019 | C | CA | 149 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(146): Show |
150 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.5194-885dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058019 | |||||||
| chr17:43058019 | C | CAA | 26 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0171 others(23): Show |
26 | HG00438.hp1 HG00621.hp1 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.5194-886_5194-885d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058019 | |||||||
| chr17:43058019 | C | CAAA | 6 | a0003c0003t0003g0129 a0006c0009t0005g0272 a0006c0009t0005g0273 others(3): Show |
6 | HG02572.hp2 HG02615.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.5194-887_5194-885d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058019 | |||||||
| chr17:43058045 | A | T | 2 | a0002c0002t0002g0016 a0002c0002t0002g0023 |
2 | HG01099.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.5194-910T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058045 | |||||||
| chr17:43058314 | C | A | 13 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(10): Show |
14 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5194-1179G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058314 | |||||||
| chr17:43058315 | A | G | 1 | a0001c0001t0001g0184 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.5194-1180T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058315 | |||||||
| chr17:43058377 | A | C | 3 | a0003c0003t0006g0116 a0003c0003t0006g0134 a0015c0013t0014g0101 |
3 | HG02257.hp2 HG02615.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.5194-1242T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058377 | |||||||
| chr17:43058379 | A | AAC | 7 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(4): Show |
7 | HG01346.hp1 HG02165.hp2 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.5194-1246_5194-124 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058379 | |||||||
| chr17:43058379 | A | C | 147 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.5194-1244T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058379 | |||||||
| chr17:43058399 | T | C | 48 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(45): Show |
48 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(45): Show |
intron_variant | MODIFIER | c.5194-1264A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058399 | |||||||
| chr17:43058585 | T | C | 4 | a0002c0002t0002g0009 a0002c0002t0002g0058 a0002c0002t0002g0060 others(1): Show |
4 | HG02015.hp1 HG02155.hp1 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.5194-1450A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058585 | |||||||
| chr17:43058845 | T | C | 1 | a0006c0009t0005g0272 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5194-1710A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058845 | |||||||
| chr17:43058895 | C | T | 1 | a0002c0002t0002g0055 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5194-1760G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43058895 | |||||||
| chr17:43059207 | C | T | 1 | a0002c0002t0002g0080 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.5194-2072G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059207 | |||||||
| chr17:43059469 | C | CACA | 76 | a0001c0001t0001g0108 a0001c0001t0001g0166 a0001c0001t0001g0167 others(73): Show |
76 | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(73): Show |
intron_variant | MODIFIER | c.5194-2337_5194-233 others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | C | CACAACA | 40 | a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0197 others(37): Show |
40 | HG00280.hp1 HG00639.hp2 HG01070.hp2 others(37): Show |
intron_variant | MODIFIER | c.5194-2340_5194-233 others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | C | CACAACAA others(2): Show |
21 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 others(18): Show |
21 | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.5194-2343_5194-233 others(13): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | C | CACAACAA others(5): Show |
5 | a0001c0001t0001g0198 a0001c0001t0001g0242 a0001c0001t0013g0204 others(2): Show |
5 | HG02602.hp2 HG02717.hp1 NA18940.hp1 others(2): Show |
intron_variant | MODIFIER | c.5194-2346_5194-233 others(16): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | C | CACAACAA others(8): Show |
3 | a0003c0003t0002g0115 a0003c0003t0003g0123 a0003c0003t0003g0129 |
3 | HG02572.hp2 HG03195.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.5194-2349_5194-233 others(19): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | CACA | C | 16 | a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0003g0037 others(13): Show |
16 | HG00438.hp2 HG01346.hp1 HG01433.hp2 others(13): Show |
intron_variant | MODIFIER | c.5194-2337_5194-233 others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059469 | CACAACA | C | 6 | a0001c0001t0001g0199 a0002c0002t0002g0072 a0002c0002t0002g0084 others(3): Show |
6 | HG01346.hp2 HG02559.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.5194-2340_5194-233 others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059469 | |||||||
| chr17:43059636 | A | G | 108 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(105): Show |
108 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.5194-2501T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059636 | |||||||
| chr17:43059936 | T | C | 4 | a0003c0003t0002g0115 a0003c0003t0002g0156 a0003c0003t0002g0157 others(1): Show |
4 | HG02258.hp1 HG04199.hp2 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.5194-2801A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43059936 | |||||||
| chr17:43060047 | A | G | 1 | a0005c0006t0003g0082 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5194-2912T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060047 | |||||||
| chr17:43060065 | C | T | 1 | a0002c0002t0002g0074 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.5194-2930G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060065 | |||||||
| chr17:43060152 | C | T | 108 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(105): Show |
108 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.5194-3017G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060152 | |||||||
| chr17:43060163 | C | T | 1 | a0001c0001t0001g0177 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.5194-3028G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060163 | |||||||
| chr17:43060321 | A | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5193+3012T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060321 | |||||||
| chr17:43060342 | G | A | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5193+2991C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060342 | |||||||
| chr17:43060530 | C | T | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5193+2803G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060530 | |||||||
| chr17:43060745 | G | A | 38 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(35): Show |
38 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
intron_variant | MODIFIER | c.5193+2588C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060745 | |||||||
| chr17:43060751 | C | T | 6 | a0003c0003t0002g0113 a0003c0003t0002g0138 a0003c0003t0002g0139 others(3): Show |
6 | HG02280.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.5193+2582G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060751 | |||||||
| chr17:43060788 | C | T | 159 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(156): Show |
159 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(156): Show |
intron_variant | MODIFIER | c.5193+2545G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060788 | |||||||
| chr17:43060902 | G | T | 1 | a0001c0001t0001g0207 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5193+2431C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060902 | |||||||
| chr17:43060996 | C | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5193+2337G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43060996 | |||||||
| chr17:43061042 | C | T | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5193+2291G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061042 | |||||||
| chr17:43061103 | G | C | 6 | a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0211 others(3): Show |
6 | HG00438.hp1 HG00558.hp2 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.5193+2230C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061103 | |||||||
| chr17:43061302 | G | A | 1 | a0003c0003t0004g0160 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5193+2031C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061302 | |||||||
| chr17:43061585 | C | CT | 5 | a0002c0002t0002g0094 a0002c0002t0003g0086 a0003c0003t0004g0131 others(2): Show |
5 | HG01167.hp2 HG01243.hp2 HG01433.hp2 others(2): Show |
intron_variant | MODIFIER | c.5193+1747dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061585 | |||||||
| chr17:43061585 | CT | C | 6 | a0001c0001t0001g0200 a0001c0001t0001g0242 a0001c0001t0001g0249 others(3): Show |
6 | HG01361.hp1 HG02976.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.5193+1747delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061585 | |||||||
| chr17:43061609 | G | T | 107 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5193+1724C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061609 | |||||||
| chr17:43061643 | T | C | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.5193+1690A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061643 | |||||||
| chr17:43061731 | T | C | 12 | a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0002g0257 others(9): Show |
12 | HG00140.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.5193+1602A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061731 | |||||||
| chr17:43061743 | C | T | 9 | a0004c0004t0001g0203 a0004c0004t0001g0237 a0004c0004t0001g0238 others(6): Show |
9 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.5193+1590G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061743 | |||||||
| chr17:43061876 | C | T | 107 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5193+1457G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061876 | |||||||
| chr17:43061979 | C | T | 107 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5193+1354G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43061979 | |||||||
| chr17:43062062 | T | C | 3 | a0003c0010t0002g0163 a0003c0010t0002g0164 a0012c0020t0002g0151 |
3 | HG01884.hp2 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.5193+1271A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062062 | |||||||
| chr17:43062192 | CAA | C | 107 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5193+1139_5193+114 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062192 | |||||||
| chr17:43062593 | C | T | 1 | a0002c0002t0002g0087 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.5193+740G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062593 | |||||||
| chr17:43062602 | AT | A | 5 | a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0001g0242 others(2): Show |
5 | HG02809.hp2 HG03834.hp1 NA18959.hp1 others(2): Show |
intron_variant | MODIFIER | c.5193+730delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062602 | |||||||
| chr17:43062603 | T | A | 5 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(2): Show |
5 | HG02165.hp2 NA18960.hp1 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.5193+730A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062603 | |||||||
| chr17:43062822 | C | T | 1 | a0005c0006t0003g0068 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.5193+511G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43062822 | |||||||
| chr17:43063051 | C | T | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5193+282G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | 43063051 | |||||||
| chr17:43063505 | A | G | 1 | a0001c0001t0001g0199 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5153-132T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 17/22 | chr17 | 43063505 | |||||||
| chr17:43063788 | CA | C | 4 | a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0004g0149 others(1): Show |
4 | HG02109.hp1 HG02451.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.5152+85delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 17/22 | chr17 | 43063788 | |||||||
| chr17:43063808 | C | T | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.5152+66G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 17/22 | chr17 | 43063808 | |||||||
| chr17:43064004 | G | A | 2 | a0004c0004t0001g0237 a0004c0004t0001g0241 |
2 | HG00099.hp1 HG00741.hp1 |
intron_variant | MODIFIER | c.5075-53C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064004 | |||||||
| chr17:43064147 | T | G | 1 | a0001c0001t0001g0208 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5075-196A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064147 | |||||||
| chr17:43064188 | G | T | 98 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(95): Show |
98 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.5075-237C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064188 | |||||||
| chr17:43064189 | T | C | 9 | a0004c0004t0001g0203 a0004c0004t0001g0237 a0004c0004t0001g0238 others(6): Show |
9 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.5075-238A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064189 | |||||||
| chr17:43064324 | G | A | 37 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(34): Show |
37 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(34): Show |
intron_variant | MODIFIER | c.5075-373C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064324 | |||||||
| chr17:43064327 | G | A | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5075-376C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064327 | |||||||
| chr17:43064398 | T | C | 1 | a0002c0002t0002g0022 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.5075-447A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064398 | |||||||
| chr17:43064693 | A | T | 1 | a0017c0017t0002g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5075-742T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064693 | |||||||
| chr17:43064696 | T | A | 6 | a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0211 others(3): Show |
6 | HG00438.hp1 HG00558.hp2 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.5075-745A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064696 | |||||||
| chr17:43064720 | C | G | 1 | a0006c0009t0005g0272 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5075-769G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064720 | |||||||
| chr17:43064827 | A | AT | 7 | a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0027 others(4): Show |
7 | HG01069.hp2 HG01071.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.5075-877dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064827 | |||||||
| chr17:43064827 | AT | A | 156 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(153): Show |
156 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.5075-877delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064827 | |||||||
| chr17:43064916 | T | C | 113 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.5075-965A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43064916 | |||||||
| chr17:43065020 | T | C | 1 | a0002c0002t0002g0055 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5075-1069A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065020 | |||||||
| chr17:43065024 | G | T | 1 | a0011c0015t0002g0028 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5075-1073C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065024 | |||||||
| chr17:43065084 | C | A | 1 | a0003c0003t0004g0162 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5075-1133G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065084 | |||||||
| chr17:43065086 | C | T | 7 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(4): Show |
7 | HG01346.hp1 HG02165.hp2 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.5075-1135G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065086 | |||||||
| chr17:43065089 | CA | C | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.5075-1139delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065089 | |||||||
| chr17:43065094 | C | T | 7 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(4): Show |
7 | HG01346.hp1 HG02165.hp2 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.5075-1143G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065094 | |||||||
| chr17:43065110 | C | G | 1 | a0001c0001t0001g0179 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.5075-1159G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065110 | |||||||
| chr17:43065363 | A | G | 10 | a0002c0002t0003g0086 a0003c0003t0002g0114 a0003c0003t0004g0112 others(7): Show |
10 | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.5075-1412T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065363 | |||||||
| chr17:43065497 | T | C | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.5075-1546A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065497 | |||||||
| chr17:43065535 | A | C | 5 | a0001c0001t0001g0175 a0001c0001t0001g0214 a0001c0001t0001g0218 others(2): Show |
5 | HG01099.hp2 HG01192.hp2 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.5075-1584T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065535 | |||||||
| chr17:43065589 | G | A | 1 | a0002c0002t0002g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5075-1638C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065589 | |||||||
| chr17:43065857 | C | T | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.5074+1751G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065857 | |||||||
| chr17:43065865 | G | A | 2 | a0003c0003t0004g0149 a0014c0021t0004g0148 |
2 | HG02451.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.5074+1743C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065865 | |||||||
| chr17:43065990 | T | C | 3 | a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 |
3 | HG02280.hp2 HG02559.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.5074+1618A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43065990 | |||||||
| chr17:43066089 | G | A | 1 | a0002c0002t0002g0038 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.5074+1519C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066089 | |||||||
| chr17:43066275 | T | C | 2 | a0002c0002t0002g0061 a0018c0028t0002g0100 |
2 | NA18955.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.5074+1333A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066275 | |||||||
| chr17:43066316 | G | A | 115 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(112): Show |
115 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.5074+1292C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066316 | |||||||
| chr17:43066355 | A | G | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.5074+1253T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066355 | |||||||
| chr17:43066450 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5074+1158G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066450 | |||||||
| chr17:43066555 | T | C | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.5074+1053A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066555 | |||||||
| chr17:43066598 | A | C | 2 | a0002c0002t0002g0050 a0002c0002t0007g0021 |
2 | NA18992.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.5074+1010T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066598 | |||||||
| chr17:43066690 | C | G | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.5074+918G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066690 | |||||||
| chr17:43066690 | C | T | 3 | a0003c0010t0002g0163 a0003c0010t0002g0164 a0012c0020t0002g0151 |
3 | HG01884.hp2 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.5074+918G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066690 | |||||||
| chr17:43066699 | G | A | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.5074+909C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066699 | |||||||
| chr17:43066730 | C | T | 24 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(21): Show |
24 | HG00280.hp1 HG01069.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.5074+878G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066730 | |||||||
| chr17:43066787 | T | G | 1 | a0011c0015t0002g0028 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5074+821A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066787 | |||||||
| chr17:43066788 | A | G | 38 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(35): Show |
38 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
intron_variant | MODIFIER | c.5074+820T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066788 | |||||||
| chr17:43066812 | C | CT | 21 | a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 others(18): Show |
21 | HG00438.hp2 HG01243.hp1 HG01433.hp2 others(18): Show |
intron_variant | MODIFIER | c.5074+795dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066812 | |||||||
| chr17:43066812 | CT | C | 46 | a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0196 others(43): Show |
46 | HG01109.hp2 HG01167.hp1 HG01167.hp2 others(43): Show |
intron_variant | MODIFIER | c.5074+795delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066812 | |||||||
| chr17:43066848 | C | T | 1 | a0002c0002t0002g0084 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5074+760G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43066848 | |||||||
| chr17:43067255 | G | GT | 42 | a0001c0001t0001g0104 a0001c0001t0001g0174 a0001c0001t0001g0175 others(39): Show |
42 | HG00438.hp1 HG00621.hp2 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.5074+352dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067255 | |||||||
| chr17:43067256 | T | C | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5074+352A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067256 | |||||||
| chr17:43067288 | C | G | 1 | a0001c0024t0001g0230 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.5074+320G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067288 | |||||||
| chr17:43067294 | C | T | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.5074+314G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067294 | |||||||
| chr17:43067321 | C | T | 1 | a0001c0001t0001g0167 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.5074+287G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067321 | |||||||
| chr17:43067324 | G | T | 79 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(76): Show |
intron_variant | MODIFIER | c.5074+284C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067324 | |||||||
| chr17:43067343 | C | T | 2 | a0007c0008t0001g0222 a0007c0008t0001g0265 |
2 | HG00280.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.5074+265G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067343 | |||||||
| chr17:43067380 | G | A | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5074+228C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067380 | |||||||
| chr17:43067403 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5074+205G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067403 | |||||||
| chr17:43067405 | C | A | 1 | a0003c0003t0004g0133 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.5074+203G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067405 | |||||||
| chr17:43067543 | C | T | 103 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(100): Show |
103 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.5074+65G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 16/22 | chr17 | 43067543 | |||||||
| chr17:43067763 | T | C | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.4987-68A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067763 | |||||||
| chr17:43067787 | T | C | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.4987-92A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067787 | |||||||
| chr17:43067836 | A | AT | 52 | a0002c0002t0003g0086 a0003c0003t0002g0113 a0003c0003t0002g0114 others(49): Show |
53 | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(50): Show |
intron_variant | MODIFIER | c.4987-142dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067836 | |||||||
| chr17:43067836 | A | ATTT | 8 | a0001c0001t0001g0183 a0001c0001t0001g0202 a0001c0001t0001g0232 others(5): Show |
8 | HG01975.hp2 HG02615.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.4987-144_4987-142d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067836 | |||||||
| chr17:43067836 | A | ATTTT | 105 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(102): Show |
105 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.4987-145_4987-142d others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067836 | |||||||
| chr17:43067890 | T | TA | 108 | a0001c0001t0001g0106 a0001c0001t0001g0208 a0001c0001t0001g0220 others(105): Show |
109 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.4987-196dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067890 | |||||||
| chr17:43067890 | T | TAA | 152 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 others(149): Show |
152 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
intron_variant | MODIFIER | c.4987-197_4987-196d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067890 | |||||||
| chr17:43067890 | T | TAAA | 7 | a0001c0001t0001g0105 a0003c0003t0002g0121 a0003c0003t0004g0120 others(4): Show |
7 | HG01361.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.4987-198_4987-196d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43067890 | |||||||
| chr17:43068206 | A | G | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.4987-511T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068206 | |||||||
| chr17:43068271 | C | T | 1 | a0001c0001t0001g0212 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.4987-576G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068271 | |||||||
| chr17:43068303 | C | A | 13 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(10): Show |
14 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4987-608G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068303 | |||||||
| chr17:43068553 | TA | T | 14 | a0001c0001t0001g0188 a0001c0001t0001g0220 a0003c0003t0004g0131 others(11): Show |
14 | HG00099.hp1 HG00741.hp1 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.4987-859delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068553 | |||||||
| chr17:43068806 | G | A | 1 | a0003c0003t0002g0121 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4987-1111C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068806 | |||||||
| chr17:43068967 | G | A | 1 | a0003c0003t0002g0144 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4987-1272C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43068967 | |||||||
| chr17:43069161 | C | T | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4987-1466G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43069161 | |||||||
| chr17:43069579 | C | A | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.4986+1349G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43069579 | |||||||
| chr17:43069632 | T | C | 1 | a0016c0016t0002g0083 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.4986+1296A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43069632 | |||||||
| chr17:43069936 | C | A | 1 | a0017c0017t0002g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4986+992G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43069936 | |||||||
| chr17:43070082 | C | T | 9 | a0004c0004t0001g0203 a0004c0004t0001g0237 a0004c0004t0001g0238 others(6): Show |
9 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.4986+846G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070082 | |||||||
| chr17:43070174 | C | T | 1 | a0008c0007t0002g0006 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.4986+754G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070174 | |||||||
| chr17:43070245 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.4986+683A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070245 | |||||||
| chr17:43070444 | T | A | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4986+484A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070444 | |||||||
| chr17:43070445 | A | G | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.4986+483T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070445 | |||||||
| chr17:43070487 | G | C | 1 | a0004c0004t0001g0238 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4986+441C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070487 | |||||||
| chr17:43070706 | T | C | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.4986+222A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 15/22 | chr17 | 43070706 | |||||||
| chr17:43071521 | G | GAATGTTC others(17): Show |
115 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(112): Show |
115 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.4676-284_4676-283i others(26): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071521 | |||||||
| chr17:43071637 | A | C | 1 | a0003c0003t0004g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4676-399T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071637 | |||||||
| chr17:43071727 | AGCACGGT others(973): Show |
A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4676-1469_4676-490 others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071727 | |||||||
| chr17:43071752 | C | T | 1 | a0002c0002t0002g0024 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4676-514G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071752 | |||||||
| chr17:43071933 | G | A | 1 | a0009c0023t0001g0169 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.4676-695C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071933 | |||||||
| chr17:43071995 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4676-757C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43071995 | |||||||
| chr17:43072014 | AT | A | 10 | a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0011 others(7): Show |
10 | HG02015.hp1 HG02027.hp2 HG02155.hp1 others(7): Show |
intron_variant | MODIFIER | c.4676-777delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072014 | |||||||
| chr17:43072249 | C | T | 1 | a0006c0026t0005g0274 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.4676-1011G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072249 | |||||||
| chr17:43072263 | C | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.4676-1025G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072263 | |||||||
| chr17:43072284 | G | C | 1 | a0002c0002t0002g0014 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.4676-1046C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072284 | |||||||
| chr17:43072401 | C | T | 1 | a0001c0001t0001g0171 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4676-1163G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072401 | |||||||
| chr17:43072516 | T | C | 1 | a0001c0001t0001g0213 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4676-1278A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072516 | |||||||
| chr17:43072716 | C | T | 1 | a0001c0001t0001g0194 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4676-1478G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072716 | |||||||
| chr17:43072816 | G | C | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.4675+1515C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072816 | |||||||
| chr17:43072839 | C | T | 1 | a0003c0003t0003g0125 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4675+1492G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072839 | |||||||
| chr17:43072875 | G | GT | 18 | a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0216 others(15): Show |
18 | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.4675+1455dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072875 | |||||||
| chr17:43072939 | A | T | 3 | a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0002g0257 |
3 | HG01109.hp1 HG01123.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.4675+1392T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43072939 | |||||||
| chr17:43073428 | G | A | 11 | a0002c0002t0003g0037 a0002c0002t0003g0066 a0002c0002t0003g0067 others(8): Show |
11 | HG01169.hp2 HG01346.hp1 HG02165.hp2 others(8): Show |
intron_variant | MODIFIER | c.4675+903C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073428 | |||||||
| chr17:43073576 | C | T | 1 | a0002c0002t0002g0061 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.4675+755G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073576 | |||||||
| chr17:43073637 | TA | T | 4 | a0002c0002t0002g0024 a0002c0002t0003g0025 a0002c0002t0003g0042 others(1): Show |
4 | HG00140.hp2 HG01192.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4675+693delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073637 | |||||||
| chr17:43073709 | T | A | 1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4675+622A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073709 | |||||||
| chr17:43073748 | G | GTA | 5 | a0003c0003t0003g0109 a0003c0003t0004g0120 a0006c0009t0005g0272 others(2): Show |
5 | HG02145.hp1 HG02615.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.4675+581_4675+582d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073748 | |||||||
| chr17:43073750 | A | G | 9 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(6): Show |
9 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.4675+581T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073750 | |||||||
| chr17:43073762 | A | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4675+569T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073762 | |||||||
| chr17:43073764 | A | T | 105 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(102): Show |
105 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.4675+567T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073764 | |||||||
| chr17:43073766 | A | T | 122 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(119): Show |
122 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.4675+565T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073766 | |||||||
| chr17:43073768 | T | A | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4675+563A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073768 | |||||||
| chr17:43073822 | T | C | 115 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(112): Show |
115 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.4675+509A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43073822 | |||||||
| chr17:43074016 | T | G | 6 | a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
intron_variant | MODIFIER | c.4675+315A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43074016 | |||||||
| chr17:43074218 | A | G | 1 | a0003c0003t0003g0122 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4675+113T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43074218 | |||||||
| chr17:43074226 | C | T | 1 | a0003c0003t0004g0162 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4675+105G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 14/22 | chr17 | 43074226 | |||||||
| chr17:43074584 | G | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4485-63C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074584 | |||||||
| chr17:43074654 | C | T | 2 | a0002c0002t0002g0007 a0002c0002t0002g0062 |
2 | HG00438.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.4485-133G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074654 | |||||||
| chr17:43074658 | A | T | 162 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(159): Show |
162 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.4485-137T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074658 | |||||||
| chr17:43074719 | GGGGTT | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4485-203_4485-199d others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074719 | |||||||
| chr17:43074772 | G | C | 1 | a0001c0001t0001g0186 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.4485-251C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074772 | |||||||
| chr17:43074773 | T | G | 1 | a0001c0001t0001g0186 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.4485-252A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074773 | |||||||
| chr17:43074794 | G | T | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4485-273C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074794 | |||||||
| chr17:43074861 | C | T | 2 | a0003c0003t0006g0116 a0003c0003t0006g0134 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4485-340G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074861 | |||||||
| chr17:43074920 | AGAAAGAA others(7): Show |
A | 2 | a0001c0001t0001g0208 a0001c0001t0001g0263 |
2 | HG06807.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4485-413_4485-400d others(16): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43074920 | |||||||
| chr17:43075066 | C | CGGAA | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4485-549_4485-546d others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43075066 | |||||||
| chr17:43075207 | T | A | 1 | a0001c0001t0001g0186 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.4485-686A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43075207 | |||||||
| chr17:43075975 | C | A | 1 | a0001c0001t0001g0174 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4484+513G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43075975 | |||||||
| chr17:43076025 | G | A | 2 | a0002c0002t0002g0008 a0002c0002t0002g0019 |
2 | NA18969.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.4484+463C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43076025 | |||||||
| chr17:43076103 | T | C | 1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4484+385A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | 43076103 | |||||||
| chr17:43077335 | C | CT | 110 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4358-722dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077335 | |||||||
| chr17:43077335 | CT | C | 10 | a0002c0002t0002g0041 a0003c0003t0004g0102 a0003c0003t0004g0152 others(7): Show |
10 | HG01069.hp2 HG01884.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.4358-722delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077335 | |||||||
| chr17:43077369 | T | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4358-755A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077369 | |||||||
| chr17:43077425 | G | A | 1 | a0017c0017t0002g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4358-811C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077425 | |||||||
| chr17:43077490 | C | T | 1 | a0003c0003t0002g0115 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4358-876G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077490 | |||||||
| chr17:43077626 | G | A | 1 | a0001c0001t0001g0177 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.4358-1012C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077626 | |||||||
| chr17:43077743 | AT | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4358-1130delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077743 | |||||||
| chr17:43077746 | T | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4358-1132A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077746 | |||||||
| chr17:43077756 | T | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4358-1142A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077756 | |||||||
| chr17:43077795 | A | G | 162 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(159): Show |
162 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.4358-1181T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077795 | |||||||
| chr17:43077808 | A | G | 4 | a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0002g0049 others(1): Show |
4 | HG00639.hp1 HG01952.hp1 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.4358-1194T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077808 | |||||||
| chr17:43077829 | A | C | 1 | a0007c0008t0001g0265 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.4358-1215T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077829 | |||||||
| chr17:43077840 | G | A | 176 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(173): Show |
177 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.4358-1226C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077840 | |||||||
| chr17:43077891 | T | A | 176 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(173): Show |
177 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.4358-1277A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077891 | |||||||
| chr17:43077945 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4358-1331G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43077945 | |||||||
| chr17:43078027 | G | A | 1 | a0011c0015t0002g0028 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.4358-1413C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078027 | |||||||
| chr17:43078030 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4358-1416G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078030 | |||||||
| chr17:43078087 | A | C | 1 | a0002c0002t0007g0021 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.4358-1473T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078087 | |||||||
| chr17:43078088 | C | T | 1 | a0002c0002t0007g0021 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.4358-1474G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078088 | |||||||
| chr17:43078088 | CT | C | 172 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(169): Show |
173 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.4358-1475delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078088 | |||||||
| chr17:43078211 | G | A | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4358-1597C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078211 | |||||||
| chr17:43078232 | C | T | 2 | a0003c0003t0002g0139 a0003c0003t0002g0141 |
2 | HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.4358-1618G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078232 | |||||||
| chr17:43078319 | A | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4358-1705T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078319 | |||||||
| chr17:43078359 | A | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4358-1745T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078359 | |||||||
| chr17:43078477 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.4358-1863C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078477 | |||||||
| chr17:43078507 | T | G | 78 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.4358-1893A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078507 | |||||||
| chr17:43078520 | A | T | 162 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(159): Show |
162 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.4358-1906T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078520 | |||||||
| chr17:43078938 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.4358-2324C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078938 | |||||||
| chr17:43078965 | C | T | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.4358-2351G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078965 | |||||||
| chr17:43078973 | A | G | 162 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(159): Show |
162 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.4358-2359T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43078973 | |||||||
| chr17:43079008 | C | T | 1 | a0009c0023t0001g0169 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.4358-2394G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079008 | |||||||
| chr17:43079069 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4358-2455C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079069 | |||||||
| chr17:43079111 | T | C | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4358-2497A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079111 | |||||||
| chr17:43079204 | A | C | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4358-2590T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079204 | |||||||
| chr17:43079318 | G | A | 1 | a0002c0002t0002g0052 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.4358-2704C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079318 | |||||||
| chr17:43079499 | C | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4358-2885G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079499 | |||||||
| chr17:43079575 | T | C | 2 | a0003c0003t0002g0113 a0003c0003t0002g0138 |
2 | HG02622.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.4357+2829A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079575 | |||||||
| chr17:43079616 | A | G | 2 | a0003c0003t0004g0131 a0003c0003t0004g0133 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.4357+2788T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079616 | |||||||
| chr17:43079653 | C | T | 2 | a0001c0001t0001g0168 a0001c0001t0001g0186 |
2 | NA18974.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.4357+2751G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079653 | |||||||
| chr17:43079681 | G | C | 48 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(45): Show |
48 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(45): Show |
intron_variant | MODIFIER | c.4357+2723C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079681 | |||||||
| chr17:43079685 | C | A | 1 | a0001c0001t0001g0208 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4357+2719G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079685 | |||||||
| chr17:43079788 | T | TA | 31 | a0001c0001t0001g0178 a0001c0001t0001g0213 a0001c0001t0001g0220 others(28): Show |
32 | HG00280.hp1 HG00735.hp2 HG02027.hp1 others(29): Show |
intron_variant | MODIFIER | c.4357+2615dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079788 | |||||||
| chr17:43079885 | G | A | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4357+2519C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43079885 | |||||||
| chr17:43080327 | G | C | 261 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(258): Show |
262 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
intron_variant | MODIFIER | c.4357+2077C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43080327 | |||||||
| chr17:43080352 | C | T | 1 | a0002c0002t0002g0063 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.4357+2052G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43080352 | |||||||
| chr17:43080681 | C | T | 34 | a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.4357+1723G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43080681 | |||||||
| chr17:43080841 | A | C | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.4357+1563T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43080841 | |||||||
| chr17:43081018 | A | G | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4357+1386T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081018 | |||||||
| chr17:43081192 | A | G | 2 | a0002c0002t0003g0037 a0002c0002t0003g0091 |
2 | HG02559.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4357+1212T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081192 | |||||||
| chr17:43081527 | G | C | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.4357+877C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081527 | |||||||
| chr17:43081610 | C | T | 4 | a0003c0003t0002g0115 a0003c0003t0002g0156 a0003c0003t0002g0157 others(1): Show |
4 | HG02258.hp1 HG04199.hp2 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.4357+794G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081610 | |||||||
| chr17:43081753 | T | C | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.4357+651A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081753 | |||||||
| chr17:43081840 | T | C | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4357+564A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43081840 | |||||||
| chr17:43082024 | T | C | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4357+380A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43082024 | |||||||
| chr17:43082113 | C | T | 1 | a0002c0002t0003g0067 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.4357+291G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43082113 | |||||||
| chr17:43082287 | C | T | 23 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(20): Show |
23 | HG00280.hp1 HG01069.hp1 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.4357+117G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 12/22 | chr17 | 43082287 | |||||||
| chr17:43082666 | C | T | 1 | a0001c0001t0001g0246 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4186-91G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43082666 | |||||||
| chr17:43083089 | A | G | 2 | a0002c0002t0002g0035 a0002c0002t0002g0085 |
2 | HG00558.hp1 NA18939.hp1 |
intron_variant | MODIFIER | c.4186-514T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43083089 | |||||||
| chr17:43083407 | C | T | 1 | a0002c0002t0002g0095 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.4186-832G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43083407 | |||||||
| chr17:43083782 | G | A | 191 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(188): Show |
192 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.4186-1207C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43083782 | |||||||
| chr17:43083822 | T | A | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.4186-1247A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43083822 | |||||||
| chr17:43084026 | G | A | 2 | a0003c0003t0006g0116 a0003c0003t0006g0134 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4186-1451C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43084026 | |||||||
| chr17:43084031 | AT | A | 6 | a0001c0001t0001g0197 a0002c0002t0002g0041 a0002c0002t0002g0061 others(3): Show |
6 | HG01069.hp2 HG02273.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.4186-1457delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43084031 | |||||||
| chr17:43084175 | C | T | 2 | a0003c0003t0002g0156 a0003c0003t0002g0159 |
2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4186-1600G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43084175 | |||||||
| chr17:43084625 | T | C | 2 | a0003c0003t0006g0116 a0003c0003t0006g0134 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4186-2050A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43084625 | |||||||
| chr17:43084762 | G | A | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.4186-2187C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43084762 | |||||||
| chr17:43085058 | T | C | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.4186-2483A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085058 | |||||||
| chr17:43085427 | A | G | 1 | a0002c0002t0008g0070 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.4186-2852T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085427 | |||||||
| chr17:43085439 | G | A | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA19058.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.4186-2864C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085439 | |||||||
| chr17:43085568 | C | T | 1 | a0004c0004t0001g0238 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4186-2993G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085568 | |||||||
| chr17:43085632 | T | C | 1 | a0009c0023t0001g0169 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.4186-3057A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085632 | |||||||
| chr17:43085676 | T | TA | 15 | a0001c0001t0001g0178 a0001c0001t0001g0220 a0001c0001t0001g0227 others(12): Show |
15 | HG00280.hp1 HG02027.hp1 HG02056.hp1 others(12): Show |
intron_variant | MODIFIER | c.4186-3102dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085676 | |||||||
| chr17:43085741 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.4186-3166A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085741 | |||||||
| chr17:43085871 | C | G | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4186-3296G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085871 | |||||||
| chr17:43085936 | G | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4186-3361C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085936 | |||||||
| chr17:43085995 | T | A | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.4186-3420A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43085995 | |||||||
| chr17:43086109 | T | C | 1 | a0002c0002t0002g0080 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.4186-3534A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TAC | 27 | a0001c0001t0001g0196 a0002c0002t0002g0034 a0002c0002t0002g0035 others(24): Show |
27 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(24): Show |
intron_variant | MODIFIER | c.4186-3536_4186-353 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACAC | 36 | a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 others(33): Show |
37 | HG00408.hp2 HG00735.hp2 HG01109.hp2 others(34): Show |
intron_variant | MODIFIER | c.4186-3538_4186-353 others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACAC | 63 | a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0173 others(60): Show |
63 | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.4186-3540_4186-353 others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACACA others(1): Show |
40 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(37): Show |
40 | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(37): Show |
intron_variant | MODIFIER | c.4186-3542_4186-353 others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACACA others(3): Show |
8 | a0001c0001t0001g0108 a0001c0001t0001g0171 a0001c0001t0001g0185 others(5): Show |
8 | HG01891.hp2 HG02809.hp1 HG03669.hp1 others(5): Show |
intron_variant | MODIFIER | c.4186-3544_4186-353 others(14): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACACA others(5): Show |
6 | a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0208 others(3): Show |
6 | HG01243.hp1 HG02630.hp1 HG03579.hp2 others(3): Show |
intron_variant | MODIFIER | c.4186-3546_4186-353 others(16): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACACA others(7): Show |
3 | a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 |
3 | HG02647.hp1 HG02895.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.4186-3548_4186-353 others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | T | TACACACA others(9): Show |
1 | a0001c0001t0001g0220 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.4186-3550_4186-353 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | TAC | T | 3 | a0002c0002t0002g0004 a0002c0002t0002g0052 a0002c0002t0002g0063 |
3 | HG01975.hp1 HG02602.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.4186-3536_4186-353 others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | TACACACA others(3): Show |
T | 7 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(4): Show |
7 | HG01346.hp1 HG02165.hp2 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.4186-3544_4186-353 others(14): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086109 | TACACACA others(13): Show |
T | 1 | a0001c0001t0001g0246 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4186-3554_4186-353 others(24): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086109 | |||||||
| chr17:43086386 | CAAAAACC others(56): Show |
C | 1 | a0001c0001t0001g0182 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4186-3874_4186-381 others(67): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086386 | |||||||
| chr17:43086485 | A | G | 2 | a0002c0002t0002g0061 a0018c0028t0002g0100 |
2 | NA18955.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.4186-3910T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086485 | |||||||
| chr17:43086587 | C | T | 1 | a0001c0001t0001g0198 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.4186-4012G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086587 | |||||||
| chr17:43086602 | C | T | 2 | a0004c0004t0001g0237 a0004c0004t0001g0241 |
2 | HG00099.hp1 HG00741.hp1 |
intron_variant | MODIFIER | c.4186-4027G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086602 | |||||||
| chr17:43086946 | G | C | 1 | a0003c0003t0002g0146 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4185+3998C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43086946 | |||||||
| chr17:43087074 | A | C | 1 | a0001c0001t0001g0214 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.4185+3870T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087074 | |||||||
| chr17:43087263 | C | T | 2 | a0003c0003t0002g0113 a0003c0003t0002g0138 |
2 | HG02622.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.4185+3681G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087263 | |||||||
| chr17:43087455 | G | A | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.4185+3489C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087455 | |||||||
| chr17:43087474 | T | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4185+3470A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087474 | |||||||
| chr17:43087554 | C | T | 1 | a0002c0002t0002g0062 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.4185+3390G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087554 | |||||||
| chr17:43087611 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4185+3333T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087611 | |||||||
| chr17:43087768 | C | T | 1 | a0002c0002t0002g0051 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.4185+3176G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087768 | |||||||
| chr17:43087898 | A | AT | 5 | a0002c0002t0003g0096 a0003c0003t0004g0102 a0006c0009t0005g0272 others(2): Show |
5 | HG02615.hp1 HG02647.hp2 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.4185+3045dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087898 | |||||||
| chr17:43087898 | AT | A | 46 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(43): Show |
46 | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.4185+3045delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087898 | |||||||
| chr17:43087911 | T | C | 1 | a0001c0001t0001g0258 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.4185+3033A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087911 | |||||||
| chr17:43087963 | T | C | 2 | a0004c0004t0001g0239 a0004c0004t0001g0256 |
2 | HG02004.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.4185+2981A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43087963 | |||||||
| chr17:43088200 | G | C | 1 | a0002c0002t0002g0085 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.4185+2744C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088200 | |||||||
| chr17:43088228 | T | C | 1 | a0001c0001t0001g0171 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4185+2716A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088228 | |||||||
| chr17:43088260 | T | C | 45 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(42): Show |
45 | HG00280.hp2 HG00438.hp1 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.4185+2684A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088260 | |||||||
| chr17:43088368 | CT | C | 6 | a0001c0001t0001g0173 a0001c0001t0001g0195 a0001c0001t0001g0249 others(3): Show |
6 | HG00558.hp2 HG01081.hp1 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.4185+2575delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088368 | |||||||
| chr17:43088583 | C | T | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA19058.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.4185+2361G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088583 | |||||||
| chr17:43088665 | T | C | 1 | a0002c0002t0002g0034 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4185+2279A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088665 | |||||||
| chr17:43088733 | G | A | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.4185+2211C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088733 | |||||||
| chr17:43088875 | A | G | 1 | a0003c0003t0004g0160 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4185+2069T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088875 | |||||||
| chr17:43088896 | A | T | 1 | a0002c0002t0002g0019 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.4185+2048T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088896 | |||||||
| chr17:43088898 | A | G | 6 | a0005c0006t0003g0043 a0005c0006t0003g0044 a0005c0006t0003g0068 others(3): Show |
6 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.4185+2046T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088898 | |||||||
| chr17:43088927 | T | C | 1 | a0001c0001t0001g0247 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.4185+2017A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088927 | |||||||
| chr17:43088950 | A | T | 1 | a0001c0001t0001g0174 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4185+1994T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43088950 | |||||||
| chr17:43089157 | A | C | 3 | a0003c0003t0002g0114 a0003c0003t0004g0112 a0003c0018t0004g0111 |
3 | HG02717.hp2 HG02723.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4185+1787T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43089157 | |||||||
| chr17:43089373 | C | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4185+1571G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43089373 | |||||||
| chr17:43089486 | T | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4185+1458A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43089486 | |||||||
| chr17:43089551 | T | TC | 109 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(106): Show |
109 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(106): Show |
intron_variant | MODIFIER | c.4185+1392_4185+139 others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43089551 | |||||||
| chr17:43090058 | AAAG | A | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.4185+883_4185+885d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090058 | |||||||
| chr17:43090134 | T | C | 1 | a0001c0001t0001g0182 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.4185+810A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090134 | |||||||
| chr17:43090268 | T | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.4185+676A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090268 | |||||||
| chr17:43090589 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4185+355C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090589 | |||||||
| chr17:43090737 | T | TGTGCGC | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.4185+201_4185+206d others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090737 | |||||||
| chr17:43090832 | G | T | 19 | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 others(16): Show |
19 | HG00621.hp2 HG00639.hp1 HG01952.hp1 others(16): Show |
intron_variant | MODIFIER | c.4185+112C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090832 | |||||||
| chr17:43090935 | G | A | 1 | a0003c0003t0004g0136 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4185+9C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 11/22 | chr17 | 43090935 | |||||||
| chr17:43091173 | T | G | 162 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(159): Show |
162 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.4097-141A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 10/22 | chr17 | 43091173 | |||||||
| chr17:43095038 | C | T | 2 | a0004c0004t0001g0250 a0004c0004t0001g0251 |
2 | HG01167.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.671-178G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095038 | |||||||
| chr17:43095105 | A | ACCT | 124 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(121): Show |
125 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.671-248_671-246dup others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095105 | |||||||
| chr17:43095586 | A | G | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.670+260T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095586 | |||||||
| chr17:43095587 | A | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.670+259T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095587 | |||||||
| chr17:43095590 | A | C | 1 | a0002c0002t0002g0074 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.670+256T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095590 | |||||||
| chr17:43095607 | A | C | 1 | a0003c0003t0002g0132 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.670+239T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 9/22 | chr17 | 43095607 | |||||||
| chr17:43095989 | C | A | 1 | a0003c0003t0004g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.594-67G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43095989 | |||||||
| chr17:43096147 | C | T | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.594-225G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096147 | |||||||
| chr17:43096246 | G | A | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.594-324C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096246 | |||||||
| chr17:43096312 | C | T | 1 | a0003c0003t0002g0159 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.594-390G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096312 | |||||||
| chr17:43096376 | C | CA | 7 | a0002c0002t0002g0069 a0003c0003t0002g0145 a0003c0003t0002g0147 others(4): Show |
7 | HG01167.hp2 HG02109.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.594-455dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096376 | |||||||
| chr17:43096376 | C | CAAAAAAA others(3): Show |
88 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(85): Show |
88 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(85): Show |
intron_variant | MODIFIER | c.594-464_594-455dup others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096376 | |||||||
| chr17:43096376 | C | CAAAAAAA others(4): Show |
18 | a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 others(15): Show |
18 | HG00408.hp2 HG00639.hp2 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.594-465_594-455dup others(11): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096376 | |||||||
| chr17:43096376 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0001g0190 a0001c0001t0001g0199 |
2 | HG03579.hp2 NA18963.hp1 |
intron_variant | MODIFIER | c.594-466_594-455dup others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096376 | |||||||
| chr17:43096380 | A | G | 1 | a0003c0003t0004g0135 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.594-458T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096380 | |||||||
| chr17:43096386 | A | AAAAAAAA others(3): Show |
1 | a0001c0001t0001g0170 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.594-465_594-464ins others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096386 | |||||||
| chr17:43096467 | G | C | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.594-545C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096467 | |||||||
| chr17:43096544 | C | G | 5 | a0001c0001t0001g0178 a0001c0001t0001g0247 a0001c0001t0001g0248 others(2): Show |
5 | HG02027.hp1 HG02056.hp1 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.594-622G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096544 | |||||||
| chr17:43096571 | C | CA | 9 | a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0092 others(6): Show |
9 | HG01123.hp2 HG02145.hp2 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.594-650dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096571 | |||||||
| chr17:43096571 | CA | C | 128 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(125): Show |
129 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.594-650delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096571 | |||||||
| chr17:43096887 | G | A | 2 | a0004c0004t0001g0239 a0004c0004t0001g0256 |
2 | HG02004.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.593+357C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43096887 | |||||||
| chr17:43097077 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.593+167T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 8/22 | chr17 | 43097077 | |||||||
| chr17:43097346 | TA | T | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.548-58delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43097346 | |||||||
| chr17:43097369 | A | G | 2 | a0003c0003t0006g0116 a0003c0003t0006g0134 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.548-80T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43097369 | |||||||
| chr17:43097582 | C | T | 1 | a0011c0015t0002g0028 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.548-293G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43097582 | |||||||
| chr17:43098010 | G | C | 21 | a0003c0003t0002g0114 a0003c0003t0002g0145 a0003c0003t0002g0146 others(18): Show |
21 | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.548-721C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098010 | |||||||
| chr17:43098030 | C | CT | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.548-742dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098030 | |||||||
| chr17:43098201 | G | T | 1 | a0003c0003t0002g0132 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.548-912C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098201 | |||||||
| chr17:43098217 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.548-928C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098217 | |||||||
| chr17:43098424 | T | C | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.548-1135A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098424 | |||||||
| chr17:43098566 | C | T | 4 | a0003c0003t0004g0120 a0003c0003t0004g0131 a0003c0003t0004g0133 others(1): Show |
4 | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.547+1209G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098566 | |||||||
| chr17:43098583 | G | A | 1 | a0003c0003t0004g0102 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.547+1192C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098583 | |||||||
| chr17:43098661 | C | CT | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.547+1113_547+1114i others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098661 | |||||||
| chr17:43098819 | C | CT | 5 | a0003c0003t0003g0123 a0006c0009t0005g0272 a0006c0009t0005g0273 others(2): Show |
5 | HG02615.hp1 HG03195.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.547+955dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098819 | |||||||
| chr17:43098877 | G | C | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.547+898C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098877 | |||||||
| chr17:43098906 | T | C | 176 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(173): Show |
177 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.547+869A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098906 | |||||||
| chr17:43098983 | A | AT | 18 | a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0179 others(15): Show |
18 | HG00438.hp1 HG00544.hp2 HG01952.hp2 others(15): Show |
intron_variant | MODIFIER | c.547+791dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43098983 | |||||||
| chr17:43099103 | G | A | 1 | a0003c0010t0002g0164 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.547+672C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099103 | |||||||
| chr17:43099409 | TAC | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.547+364_547+365del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099409 | |||||||
| chr17:43099418 | G | A | 1 | a0002c0002t0008g0070 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.547+357C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099418 | |||||||
| chr17:43099453 | T | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.547+322A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099453 | |||||||
| chr17:43099478 | C | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.547+297G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099478 | |||||||
| chr17:43099491 | G | A | 9 | a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 others(6): Show |
9 | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.547+284C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099491 | |||||||
| chr17:43099501 | C | A | 1 | a0001c0001t0001g0220 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.547+274G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099501 | |||||||
| chr17:43099629 | T | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.547+146A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 7/22 | chr17 | 43099629 | |||||||
| chr17:43099914 | G | A | 12 | a0002c0002t0002g0024 a0002c0002t0003g0025 a0002c0002t0003g0042 others(9): Show |
12 | HG00140.hp2 HG00735.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-34C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43099914 | |||||||
| chr17:43100546 | G | A | 1 | a0003c0010t0002g0163 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.442-666C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100546 | |||||||
| chr17:43100556 | G | A | 23 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(20): Show |
23 | HG00280.hp1 HG01069.hp1 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.442-676C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100556 | |||||||
| chr17:43100558 | G | A | 113 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.442-678C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100558 | G | GTATATAT others(30): Show |
1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.442-679_442-678ins others(37): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100558 | G | GTATATAT others(28): Show |
2 | a0003c0003t0002g0132 a0003c0003t0004g0120 |
2 | HG02896.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.442-679_442-678ins others(35): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100558 | G | GTATATAT others(102): Show |
1 | a0003c0003t0004g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.442-679_442-678ins others(109): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100558 | G | GTATATAT others(63): Show |
2 | a0003c0003t0002g0139 a0003c0003t0002g0165 |
2 | HG02559.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.442-679_442-678ins others(70): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100558 | GTA | G | 32 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(29): Show |
32 | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(29): Show |
intron_variant | MODIFIER | c.442-680_442-679del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100558 | |||||||
| chr17:43100559 | T | TATATATA others(19): Show |
1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.442-680_442-679ins others(26): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100559 | |||||||
| chr17:43100560 | A | ATATATAT others(102): Show |
1 | a0003c0010t0002g0164 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.442-681_442-680ins others(109): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100560 | |||||||
| chr17:43100560 | A | ATATATAT others(100): Show |
1 | a0003c0003t0002g0143 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.442-681_442-680ins others(107): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100560 | |||||||
| chr17:43100560 | A | ATATATAT others(28): Show |
5 | a0002c0002t0002g0015 a0002c0002t0002g0073 a0002c0002t0003g0037 others(2): Show |
5 | HG02559.hp2 HG03471.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-715_442-681dup others(35): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100560 | |||||||
| chr17:43100560 | A | G | 5 | a0003c0003t0002g0145 a0003c0003t0004g0153 a0003c0003t0004g0160 others(2): Show |
5 | HG02145.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-680T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100560 | |||||||
| chr17:43100563 | T | C | 1 | a0001c0001t0001g0206 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.442-683A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100563 | |||||||
| chr17:43100571 | T | A | 26 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(23): Show |
26 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(23): Show |
intron_variant | MODIFIER | c.442-691A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100571 | |||||||
| chr17:43100572 | A | ATATATAA others(79): Show |
2 | a0006c0009t0005g0273 a0006c0026t0005g0274 |
2 | NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.442-693_442-692ins others(86): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100572 | |||||||
| chr17:43100572 | A | C | 25 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(22): Show |
25 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.442-692T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100572 | |||||||
| chr17:43100574 | C | CAT | 79 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(76): Show |
79 | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(76): Show |
intron_variant | MODIFIER | c.442-696_442-695dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100574 | |||||||
| chr17:43100574 | C | T | 29 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(26): Show |
29 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.442-694G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100574 | |||||||
| chr17:43100583 | AACATATA others(41): Show |
A | 1 | a0004c0004t0001g0241 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.442-751_442-704del others(48): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100583 | |||||||
| chr17:43100584 | A | T | 2 | a0001c0001t0001g0206 a0001c0001t0001g0245 |
2 | HG00639.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.442-704T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100584 | |||||||
| chr17:43100585 | C | A | 2 | a0001c0001t0001g0206 a0001c0001t0001g0245 |
2 | HG00639.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.442-705G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100585 | |||||||
| chr17:43100585 | CATATATA others(41): Show |
C | 2 | a0004c0004t0001g0250 a0004c0004t0001g0251 |
2 | HG01167.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.442-753_442-706del others(48): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100585 | |||||||
| chr17:43100587 | T | C | 2 | a0001c0001t0001g0206 a0001c0001t0001g0245 |
2 | HG00639.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.442-707A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100587 | |||||||
| chr17:43100594 | A | G | 38 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(35): Show |
38 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
intron_variant | MODIFIER | c.442-714T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100594 | |||||||
| chr17:43100595 | T | A | 78 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.442-715A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100595 | |||||||
| chr17:43100595 | T | TAA | 5 | a0003c0010t0002g0163 a0006c0009t0005g0272 a0006c0009t0005g0273 others(2): Show |
5 | HG01884.hp2 HG02615.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-716_442-715ins others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100595 | |||||||
| chr17:43100595 | T | TAACATAT others(156): Show |
1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.442-716_442-715ins others(163): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100595 | |||||||
| chr17:43100595 | T | TTA | 24 | a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0140 others(21): Show |
24 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.442-717_442-716dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100595 | |||||||
| chr17:43100595 | T | TTATATAT others(32): Show |
1 | a0003c0003t0004g0160 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.442-716_442-715ins others(39): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100595 | |||||||
| chr17:43100596 | T | A | 28 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(25): Show |
28 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(25): Show |
intron_variant | MODIFIER | c.442-716A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100596 | |||||||
| chr17:43100596 | T | C | 82 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(79): Show |
82 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
intron_variant | MODIFIER | c.442-716A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100596 | |||||||
| chr17:43100598 | T | C | 28 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(25): Show |
28 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(25): Show |
intron_variant | MODIFIER | c.442-718A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100598 | |||||||
| chr17:43100606 | T | A | 1 | a0004c0004t0001g0237 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.442-726A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100606 | |||||||
| chr17:43100607 | A | C | 1 | a0004c0004t0001g0237 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.442-727T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100607 | |||||||
| chr17:43100609 | C | CAT | 29 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 others(26): Show |
29 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(26): Show |
intron_variant | MODIFIER | c.442-731_442-730dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100609 | |||||||
| chr17:43100609 | C | CATATATA others(19): Show |
1 | a0002c0002t0003g0025 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.442-755_442-730dup others(26): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100609 | |||||||
| chr17:43100609 | C | T | 2 | a0001c0001t0001g0206 a0004c0004t0001g0237 |
2 | HG00099.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.442-729G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100609 | |||||||
| chr17:43100609 | CATATATA others(70): Show |
C | 2 | a0002c0002t0002g0007 a0002c0002t0002g0062 |
2 | HG00438.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.442-806_442-730del others(77): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100609 | |||||||
| chr17:43100615 | TATAAC | T | 3 | a0001c0001t0001g0108 a0001c0001t0001g0246 a0007c0008t0001g0265 |
3 | HG01891.hp2 HG02572.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.442-740_442-736del others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100615 | |||||||
| chr17:43100617 | TAAC | T | 62 | a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 others(59): Show |
62 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(59): Show |
intron_variant | MODIFIER | c.442-740_442-738del others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100617 | |||||||
| chr17:43100618 | A | ATATAT | 3 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 |
3 | HG02055.hp1 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.442-739_442-738ins others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100618 | |||||||
| chr17:43100619 | A | T | 2 | a0001c0001t0001g0264 a0015c0013t0014g0101 |
2 | HG03225.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.442-739T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100619 | |||||||
| chr17:43100620 | C | A | 2 | a0001c0001t0001g0264 a0015c0013t0014g0101 |
2 | HG03225.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.442-740G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100620 | |||||||
| chr17:43100620 | CAT | C | 22 | a0002c0002t0002g0072 a0003c0003t0002g0114 a0003c0003t0002g0141 others(19): Show |
22 | HG01167.hp2 HG01169.hp1 HG01346.hp2 others(19): Show |
intron_variant | MODIFIER | c.442-742_442-741del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100620 | |||||||
| chr17:43100622 | T | C | 2 | a0001c0001t0001g0264 a0015c0013t0014g0101 |
2 | HG03225.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.442-742A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100622 | |||||||
| chr17:43100622 | T | TATATATA others(30): Show |
1 | a0003c0010t0002g0163 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.442-743_442-742ins others(37): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100622 | |||||||
| chr17:43100622 | T | TATATGTT others(26): Show |
1 | a0003c0003t0002g0140 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.442-743_442-742ins others(33): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100622 | |||||||
| chr17:43100622 | T | TATGTTAT others(24): Show |
2 | a0003c0003t0002g0113 a0003c0003t0002g0138 |
2 | HG02622.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.442-743_442-742ins others(31): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100622 | |||||||
| chr17:43100626 | TATATGTT others(13): Show |
T | 1 | a0001c0001t0001g0206 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.442-766_442-747del others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100626 | |||||||
| chr17:43100628 | T | C | 23 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(20): Show |
23 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(20): Show |
intron_variant | MODIFIER | c.442-748A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100628 | |||||||
| chr17:43100629 | A | G | 4 | a0003c0003t0002g0141 a0003c0003t0002g0144 a0003c0003t0004g0142 others(1): Show |
4 | HG01109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-749T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100629 | |||||||
| chr17:43100629 | ATG | A | 18 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0029 others(15): Show |
19 | HG00735.hp2 HG01346.hp1 HG02165.hp2 others(16): Show |
intron_variant | MODIFIER | c.442-751_442-750del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100629 | |||||||
| chr17:43100629 | ATGT | A | 39 | a0001c0001t0001g0108 a0001c0001t0001g0171 a0001c0001t0001g0175 others(36): Show |
39 | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.442-752_442-750del others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100629 | |||||||
| chr17:43100630 | TG | T | 27 | a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 others(24): Show |
27 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.442-751delC | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100630 | |||||||
| chr17:43100630 | TGTTATAT others(9): Show |
T | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.442-766_442-751del others(16): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100630 | |||||||
| chr17:43100631 | G | A | 61 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(58): Show |
61 | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(58): Show |
intron_variant | MODIFIER | c.442-751C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100631 | |||||||
| chr17:43100631 | G | T | 4 | a0003c0003t0002g0141 a0003c0003t0002g0144 a0003c0003t0004g0142 others(1): Show |
4 | HG01109.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-751C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100631 | |||||||
| chr17:43100632 | T | A | 45 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(42): Show |
45 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.442-752A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100632 | T | TACA | 6 | a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
intron_variant | MODIFIER | c.442-753_442-752ins others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100632 | T | TATA | 17 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 others(14): Show |
17 | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(14): Show |
intron_variant | MODIFIER | c.442-753_442-752ins others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100632 | T | TATATA | 4 | a0004c0004t0001g0203 a0004c0004t0001g0239 a0004c0004t0001g0240 others(1): Show |
4 | HG02004.hp1 HG02683.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-753_442-752ins others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100632 | T | TTA | 8 | a0003c0003t0002g0115 a0003c0003t0002g0139 a0003c0003t0002g0156 others(5): Show |
8 | HG02258.hp1 HG02559.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.442-754_442-753dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100632 | TTATATAT others(23): Show |
T | 1 | a0001c0001t0001g0174 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.442-782_442-753del others(30): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100632 | |||||||
| chr17:43100633 | T | A | 1 | a0004c0004t0001g0241 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.442-753A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100633 | |||||||
| chr17:43100633 | T | C | 106 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(103): Show |
106 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(103): Show |
intron_variant | MODIFIER | c.442-753A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100633 | |||||||
| chr17:43100635 | T | C | 2 | a0001c0001t0001g0246 a0004c0004t0001g0241 |
2 | HG00741.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.442-755A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100635 | |||||||
| chr17:43100643 | T | A | 1 | a0007c0008t0001g0222 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.442-763A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100643 | |||||||
| chr17:43100644 | A | AACATATA others(29): Show |
4 | a0003c0003t0003g0001 a0003c0003t0003g0125 a0003c0003t0003g0128 others(1): Show |
4 | HG00735.hp2 HG02818.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-765_442-764ins others(36): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100644 | A | AACATATA others(96): Show |
1 | a0003c0003t0003g0122 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.442-765_442-764ins others(103): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100644 | A | ACATATAT others(28): Show |
1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.442-765_442-764ins others(35): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100644 | A | ATATATAC | 3 | a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0002g0209 |
3 | HG01099.hp2 HG01192.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.442-765_442-764ins others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100644 | A | C | 1 | a0007c0008t0001g0222 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.442-764T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100644 | A | G | 1 | a0001c0001t0001g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.442-764T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100644 | |||||||
| chr17:43100645 | A | T | 4 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(1): Show |
4 | HG02055.hp1 HG02976.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-765T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100645 | |||||||
| chr17:43100646 | C | CAT | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.442-768_442-767dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100646 | |||||||
| chr17:43100646 | C | G | 3 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 |
3 | HG02055.hp1 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.442-766G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100646 | |||||||
| chr17:43100646 | C | T | 8 | a0001c0001t0001g0106 a0001c0001t0001g0226 a0001c0001t0001g0266 others(5): Show |
8 | HG00280.hp2 HG01081.hp1 HG01099.hp2 others(5): Show |
intron_variant | MODIFIER | c.442-766G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100646 | |||||||
| chr17:43100647 | A | T | 3 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 |
3 | HG02055.hp1 HG02976.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.442-767T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100647 | |||||||
| chr17:43100652 | TATAAC | T | 3 | a0001c0001t0001g0171 a0001c0001t0001g0215 a0001c0001t0001g0242 |
3 | HG03669.hp1 NA18959.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.442-777_442-773del others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100652 | |||||||
| chr17:43100653 | A | G | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.442-773T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100653 | |||||||
| chr17:43100654 | T | C | 1 | a0019c0014t0002g0048 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.442-774A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100654 | |||||||
| chr17:43100654 | TA | T | 10 | a0001c0001t0001g0104 a0001c0001t0001g0184 a0001c0001t0001g0214 others(7): Show |
10 | HG01167.hp1 HG01952.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-775delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100654 | |||||||
| chr17:43100654 | TAAC | T | 18 | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 others(15): Show |
18 | HG00544.hp1 HG01891.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.442-777_442-775del others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100654 | |||||||
| chr17:43100655 | A | AT | 32 | a0001c0001t0001g0106 a0001c0001t0001g0166 a0001c0001t0001g0168 others(29): Show |
32 | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.442-776_442-775ins others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | ATATATGT others(1): Show |
17 | a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0182 others(14): Show |
17 | HG00438.hp1 HG00621.hp1 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-776_442-775ins others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | ATATATGT others(3): Show |
2 | a0001c0001t0001g0231 a0001c0001t0013g0204 |
2 | HG02602.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.442-776_442-775ins others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | ATATATGT others(5): Show |
2 | a0001c0001t0001g0170 a0001c0001t0001g0216 |
2 | HG02056.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.442-776_442-775ins others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | ATATGTT | 9 | a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0228 others(6): Show |
9 | HG00099.hp1 HG02004.hp1 HG03490.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-776_442-775ins others(6): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.442-775T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100655 | A | T | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.442-775T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100655 | |||||||
| chr17:43100656 | A | T | 6 | a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0220 others(3): Show |
6 | HG00280.hp1 HG00280.hp2 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-776T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100656 | |||||||
| chr17:43100657 | C | A | 4 | a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0243 others(1): Show |
4 | HG00280.hp1 NA18998.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-777G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100657 | C | CATATATA others(31): Show |
2 | a0003c0003t0003g0124 a0003c0003t0003g0127 |
2 | HG03540.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.442-778_442-777ins others(38): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100657 | C | CATATATA others(33): Show |
3 | a0003c0003t0003g0001 a0003c0003t0003g0126 a0003c0003t0011g0110 |
3 | HG02280.hp1 HG03098.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.442-778_442-777ins others(40): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100657 | C | G | 1 | a0007c0008t0001g0222 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.442-777G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100657 | C | T | 76 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0166 others(73): Show |
76 | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(73): Show |
intron_variant | MODIFIER | c.442-777G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100657 | CAT | C | 4 | a0002c0002t0002g0019 a0002c0002t0002g0034 a0002c0002t0002g0036 others(1): Show |
4 | HG00408.hp1 NA18947.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-779_442-778del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100657 | |||||||
| chr17:43100658 | A | ATGT | 26 | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 others(23): Show |
26 | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.442-779_442-778ins others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100658 | |||||||
| chr17:43100658 | A | T | 5 | a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0243 others(2): Show |
5 | HG00280.hp1 HG00280.hp2 NA18998.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-778T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100658 | |||||||
| chr17:43100659 | T | G | 4 | a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0243 others(1): Show |
4 | HG00280.hp1 NA18998.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-779A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100659 | |||||||
| chr17:43100659 | T | TATATATA others(28): Show |
3 | a0002c0002t0002g0061 a0002c0002t0002g0093 a0018c0028t0002g0100 |
3 | NA18955.hp1 NA18964.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.442-780_442-779ins others(35): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100659 | |||||||
| chr17:43100659 | T | TATATATA others(27): Show |
1 | a0003c0003t0003g0117 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.442-780_442-779ins others(34): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100659 | |||||||
| chr17:43100659 | T | TG | 5 | a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 others(2): Show |
5 | HG01069.hp1 HG02040.hp1 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-780_442-779ins others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100659 | |||||||
| chr17:43100660 | A | ATATATAT others(4): Show |
3 | a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0002g0257 |
3 | HG01109.hp1 HG01123.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.442-781_442-780ins others(11): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100660 | |||||||
| chr17:43100660 | A | T | 9 | a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0243 others(6): Show |
9 | HG00280.hp1 HG01069.hp1 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-780T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100660 | |||||||
| chr17:43100661 | T | TG | 9 | a0001c0001t0001g0108 a0001c0001t0001g0184 a0001c0001t0001g0214 others(6): Show |
9 | HG01891.hp2 HG02258.hp2 HG02300.hp2 others(6): Show |
intron_variant | MODIFIER | c.442-782_442-781ins others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100661 | |||||||
| chr17:43100662 | A | T | 9 | a0001c0001t0001g0108 a0001c0001t0001g0184 a0001c0001t0001g0214 others(6): Show |
9 | HG01891.hp2 HG02258.hp2 HG02300.hp2 others(6): Show |
intron_variant | MODIFIER | c.442-782T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100662 | |||||||
| chr17:43100663 | T | TATATGTT others(24): Show |
3 | a0002c0005t0003g0029 a0002c0005t0003g0030 a0002c0005t0003g0032 |
3 | HG01346.hp1 HG02165.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.442-784_442-783ins others(31): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100663 | |||||||
| chr17:43100663 | T | TATATTAT others(59): Show |
4 | a0002c0005t0003g0005 a0002c0005t0003g0017 a0002c0005t0003g0031 others(1): Show |
4 | NA18960.hp1 NA18962.hp1 NA19004.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-784_442-783ins others(66): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100663 | |||||||
| chr17:43100663 | T | TATATTAT others(24): Show |
1 | a0012c0020t0002g0151 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.442-784_442-783ins others(31): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100663 | |||||||
| chr17:43100663 | T | TG | 10 | a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0213 others(7): Show |
10 | HG00544.hp1 HG02027.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.442-784_442-783ins others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100663 | |||||||
| chr17:43100664 | A | G | 6 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show |
6 | HG02056.hp1 HG02572.hp1 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-784T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100664 | |||||||
| chr17:43100664 | A | T | 10 | a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0213 others(7): Show |
10 | HG00544.hp1 HG02027.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.442-784T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100664 | |||||||
| chr17:43100665 | T | C | 2 | a0004c0004t0001g0250 a0004c0004t0001g0251 |
2 | HG01167.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.442-785A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100665 | |||||||
| chr17:43100665 | T | TA | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.442-786dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100665 | |||||||
| chr17:43100665 | T | TATATTAT others(24): Show |
1 | a0003c0003t0004g0120 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.442-786_442-785ins others(31): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100665 | |||||||
| chr17:43100665 | T | TGTTATAT others(57): Show |
1 | a0003c0003t0002g0141 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.442-786_442-785ins others(64): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100665 | |||||||
| chr17:43100665 | TA | T | 6 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show |
6 | HG02056.hp1 HG02572.hp1 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-786delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100665 | |||||||
| chr17:43100666 | A | G | 2 | a0001c0001t0001g0215 a0003c0003t0003g0109 |
2 | HG02145.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.442-786T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100666 | |||||||
| chr17:43100666 | A | T | 2 | a0003c0003t0002g0161 a0003c0018t0004g0111 |
2 | HG02723.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.442-786T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100666 | |||||||
| chr17:43100667 | T | TATTATAT others(22): Show |
1 | a0003c0003t0004g0158 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.442-788_442-787ins others(29): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100667 | |||||||
| chr17:43100667 | T | TATTATAT others(61): Show |
3 | a0003c0003t0004g0131 a0003c0003t0004g0133 a0003c0003t0004g0162 |
3 | HG01167.hp2 HG01169.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.442-788_442-787ins others(68): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100667 | |||||||
| chr17:43100668 | A | AT | 7 | a0003c0003t0002g0140 a0003c0003t0002g0145 a0003c0003t0002g0156 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.442-789dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100668 | |||||||
| chr17:43100668 | A | G | 1 | a0001c0001t0001g0106 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.442-788T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100668 | |||||||
| chr17:43100669 | T | TTATATAT others(20): Show |
15 | a0003c0003t0002g0113 a0003c0003t0002g0121 a0003c0003t0002g0138 others(12): Show |
15 | HG01884.hp1 HG01891.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.442-790_442-789ins others(27): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100669 | |||||||
| chr17:43100669 | T | TTATATAT others(59): Show |
3 | a0003c0003t0002g0114 a0003c0003t0004g0112 a0003c0003t0006g0134 |
3 | HG02615.hp2 HG02717.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.442-790_442-789ins others(66): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100669 | |||||||
| chr17:43100670 | A | T | 1 | a0004c0004t0001g0238 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.442-790T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100670 | |||||||
| chr17:43100672 | A | G | 1 | a0001c0001t0001g0255 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.442-792T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100672 | |||||||
| chr17:43100673 | T | C | 1 | a0004c0004t0001g0241 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.442-793A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100673 | |||||||
| chr17:43100674 | ATATAATA others(3): Show |
A | 1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.442-804_442-795del others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100674 | |||||||
| chr17:43100674 | ATATAATA others(5): Show |
A | 3 | a0003c0003t0002g0115 a0003c0003t0002g0157 a0003c0003t0002g0275 |
3 | HG04199.hp2 HG04204.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.442-806_442-795del others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100674 | |||||||
| chr17:43100676 | ATAAT | A | 31 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0020 others(28): Show |
31 | HG00423.hp2 HG00621.hp2 HG01169.hp2 others(28): Show |
intron_variant | MODIFIER | c.442-800_442-797del others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100676 | |||||||
| chr17:43100676 | ATAATATA others(3): Show |
A | 3 | a0003c0003t0002g0132 a0003c0003t0002g0139 a0003c0003t0004g0160 |
3 | HG02145.hp2 HG02559.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.442-806_442-797del others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100676 | |||||||
| chr17:43100677 | T | A | 6 | a0002c0002t0002g0080 a0004c0004t0001g0250 a0004c0004t0001g0251 others(3): Show |
6 | HG01167.hp1 HG01952.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-797A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100677 | |||||||
| chr17:43100677 | TA | T | 76 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(73): Show |
76 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(73): Show |
intron_variant | MODIFIER | c.442-798delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100677 | |||||||
| chr17:43100678 | A | AT | 59 | a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 others(56): Show |
59 | HG00280.hp2 HG00423.hp1 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.442-799_442-798ins others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | A | ATATAACA others(18): Show |
6 | a0003c0003t0002g0140 a0003c0003t0002g0145 a0003c0003t0002g0156 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-799_442-798ins others(25): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | A | ATATAACA others(55): Show |
1 | a0003c0003t0006g0116 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.442-799_442-798ins others(62): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | A | ATATATAT others(4): Show |
1 | a0003c0010t0002g0163 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.442-799_442-798ins others(11): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | A | C | 5 | a0004c0004t0001g0250 a0004c0004t0001g0251 a0006c0009t0005g0272 others(2): Show |
5 | HG01167.hp1 HG01952.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-798T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | A | T | 1 | a0002c0002t0002g0080 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.442-798T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | AAT | A | 42 | a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 others(39): Show |
42 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(39): Show |
intron_variant | MODIFIER | c.442-800_442-799del others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100678 | AATATATA others(1): Show |
A | 2 | a0003c0003t0002g0165 a0003c0003t0004g0118 |
2 | HG02922.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.442-806_442-799del others(8): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100678 | |||||||
| chr17:43100679 | A | T | 24 | a0002c0002t0002g0012 a0002c0002t0002g0026 a0002c0002t0002g0059 others(21): Show |
25 | HG00735.hp2 HG00741.hp2 HG01346.hp1 others(22): Show |
intron_variant | MODIFIER | c.442-799T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100679 | |||||||
| chr17:43100680 | T | A | 24 | a0002c0002t0002g0012 a0002c0002t0002g0026 a0002c0002t0002g0059 others(21): Show |
25 | HG00735.hp2 HG00741.hp2 HG01346.hp1 others(22): Show |
intron_variant | MODIFIER | c.442-800A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100680 | |||||||
| chr17:43100680 | T | C | 5 | a0003c0003t0002g0144 a0003c0003t0002g0161 a0003c0003t0004g0142 others(2): Show |
5 | HG01109.hp2 HG02723.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-800A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100680 | |||||||
| chr17:43100682 | T | C | 3 | a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0094 |
3 | HG01099.hp1 HG01258.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.442-802A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100682 | |||||||
| chr17:43100682 | T | TA | 3 | a0003c0003t0003g0109 a0003c0003t0003g0123 a0003c0003t0003g0129 |
3 | HG02145.hp1 HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.442-803dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100682 | |||||||
| chr17:43100684 | T | TA | 7 | a0003c0003t0004g0102 a0003c0003t0004g0137 a0003c0003t0004g0152 others(4): Show |
7 | HG01884.hp1 HG01884.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.442-805dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100684 | |||||||
| chr17:43100684 | T | TATATAAC others(126): Show |
2 | a0003c0003t0002g0144 a0003c0003t0004g0142 |
2 | HG01109.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.442-805_442-804ins others(133): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100684 | |||||||
| chr17:43100686 | T | TA | 24 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0121 others(21): Show |
24 | HG01167.hp2 HG01169.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.442-807dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100686 | |||||||
| chr17:43100686 | T | TATAACAT others(56): Show |
1 | a0003c0003t0002g0161 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.442-807_442-806ins others(63): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100686 | |||||||
| chr17:43100686 | T | TATAACAT others(93): Show |
1 | a0003c0018t0004g0111 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.442-807_442-806ins others(100): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100686 | |||||||
| chr17:43100687 | A | G | 6 | a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
intron_variant | MODIFIER | c.442-807T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100687 | |||||||
| chr17:43100690 | T | TAAC | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.442-811_442-810ins others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100690 | |||||||
| chr17:43100719 | G | A | 1 | a0003c0003t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.442-839C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100719 | |||||||
| chr17:43100863 | C | T | 3 | a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0072 |
3 | HG00140.hp1 HG01346.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.442-983G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100863 | |||||||
| chr17:43100982 | C | T | 1 | a0002c0002t0002g0003 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.442-1102G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43100982 | |||||||
| chr17:43101193 | T | A | 1 | a0002c0002t0007g0021 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.442-1313A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43101193 | |||||||
| chr17:43101265 | C | T | 1 | a0003c0003t0002g0159 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.442-1385G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43101265 | |||||||
| chr17:43101311 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.442-1431G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43101311 | |||||||
| chr17:43101650 | G | C | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1770C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43101650 | |||||||
| chr17:43102077 | T | G | 1 | a0002c0002t0007g0021 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.441+2045A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102077 | |||||||
| chr17:43102078 | G | GT | 5 | a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0260 others(2): Show |
5 | HG03098.hp2 HG03516.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+2043dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102078 | |||||||
| chr17:43102078 | G | T | 1 | a0002c0002t0007g0021 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.441+2044C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102078 | |||||||
| chr17:43102132 | G | A | 1 | a0003c0003t0004g0102 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.441+1990C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102132 | |||||||
| chr17:43102157 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.441+1965T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102157 | |||||||
| chr17:43102171 | T | A | 1 | a0001c0001t0002g0209 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.441+1951A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102171 | |||||||
| chr17:43102357 | C | CT | 55 | a0002c0002t0002g0088 a0003c0003t0002g0113 a0003c0003t0002g0114 others(52): Show |
56 | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(53): Show |
intron_variant | MODIFIER | c.441+1764dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | C | CTT | 8 | a0002c0002t0003g0086 a0003c0003t0002g0147 a0003c0003t0002g0157 others(5): Show |
8 | HG01169.hp1 HG01243.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.441+1763_441+1764d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | C | CTTTTTTT | 5 | a0001c0001t0001g0177 a0001c0001t0001g0229 a0006c0009t0005g0272 others(2): Show |
5 | HG02615.hp1 HG02896.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+1758_441+1764d others(9): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | C | CTTTTTTT others(1): Show |
84 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(81): Show |
84 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(81): Show |
intron_variant | MODIFIER | c.441+1757_441+1764d others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | C | CTTTTTTT others(2): Show |
24 | a0001c0001t0001g0104 a0001c0001t0001g0166 a0001c0001t0001g0167 others(21): Show |
24 | HG00423.hp1 HG00621.hp1 HG01070.hp2 others(21): Show |
intron_variant | MODIFIER | c.441+1756_441+1764d others(11): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0182 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.441+1755_441+1764d others(12): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102357 | CT | C | 5 | a0002c0002t0002g0027 a0002c0002t0002g0041 a0002c0002t0002g0063 others(2): Show |
5 | HG01069.hp2 HG01071.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+1764delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102357 | |||||||
| chr17:43102388 | C | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.441+1734G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102388 | |||||||
| chr17:43102469 | T | G | 176 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(173): Show |
177 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.441+1653A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102469 | |||||||
| chr17:43102632 | G | C | 1 | a0003c0003t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.441+1490C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102632 | |||||||
| chr17:43102706 | G | A | 1 | a0002c0002t0008g0070 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.441+1416C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102706 | |||||||
| chr17:43102739 | A | T | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.441+1383T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102739 | |||||||
| chr17:43102740 | T | A | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.441+1382A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102740 | |||||||
| chr17:43102743 | C | A | 2 | a0003c0010t0002g0163 a0003c0010t0002g0164 |
2 | HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.441+1379G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102743 | |||||||
| chr17:43102801 | C | T | 6 | a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0211 others(3): Show |
6 | HG00438.hp1 HG00558.hp2 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.441+1321G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102801 | |||||||
| chr17:43102837 | T | C | 2 | a0002c0002t0002g0065 a0002c0002t0002g0077 |
2 | HG00423.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.441+1285A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102837 | |||||||
| chr17:43102845 | A | T | 1 | a0002c0002t0002g0009 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.441+1277T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102845 | |||||||
| chr17:43102948 | C | CT | 108 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(105): Show |
108 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
intron_variant | MODIFIER | c.441+1173dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43102948 | |||||||
| chr17:43103085 | A | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.441+1037T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103085 | |||||||
| chr17:43103094 | A | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.441+1028T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103094 | |||||||
| chr17:43103105 | C | T | 1 | a0003c0003t0004g0160 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.441+1017G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103105 | |||||||
| chr17:43103339 | C | T | 1 | a0001c0001t0001g0173 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.441+783G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103339 | |||||||
| chr17:43103440 | C | G | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.441+682G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103440 | |||||||
| chr17:43103466 | C | CA | 11 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0260 others(8): Show |
11 | HG00438.hp1 HG01884.hp1 HG02056.hp1 others(8): Show |
intron_variant | MODIFIER | c.441+655dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103466 | |||||||
| chr17:43103466 | CA | C | 8 | a0001c0001t0001g0188 a0001c0001t0001g0208 a0002c0002t0002g0041 others(5): Show |
8 | HG01069.hp2 HG02559.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.441+655delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103466 | |||||||
| chr17:43103842 | C | T | 1 | a0002c0002t0008g0070 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.441+280G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43103842 | |||||||
| chr17:43104057 | CA | C | 58 | a0002c0002t0003g0037 a0002c0002t0003g0066 a0002c0002t0003g0067 others(55): Show |
59 | HG00735.hp2 HG01167.hp2 HG01169.hp1 others(56): Show |
intron_variant | MODIFIER | c.441+64delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43104057 | |||||||
| chr17:43104057 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0208 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.441+52_441+64delCT others(11): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43104057 | |||||||
| chr17:43104058 | AAAAAAAA others(5): Show |
A | 113 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(110): Show |
113 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.441+52_441+63delCT others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43104058 | |||||||
| chr17:43104083 | AAAG | A | 115 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(112): Show |
115 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.441+36_441+38delCT others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | 43104083 | |||||||
| chr17:43104302 | A | G | 1 | a0002c0002t0002g0040 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.302-41T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 5/22 | chr17 | 43104302 | |||||||
| chr17:43104331 | C | T | 1 | a0001c0001t0001g0262 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.302-70G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 5/22 | chr17 | 43104331 | |||||||
| chr17:43105117 | T | C | 176 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(173): Show |
177 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.213-161A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105117 | |||||||
| chr17:43105222 | T | C | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.213-266A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105222 | |||||||
| chr17:43105418 | G | A | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.213-462C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105418 | |||||||
| chr17:43105441 | A | C | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.213-485T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105441 | |||||||
| chr17:43105486 | C | T | 1 | a0002c0002t0002g0094 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.213-530G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105486 | |||||||
| chr17:43105799 | T | C | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.212+657A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43105799 | |||||||
| chr17:43106026 | C | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.212+430G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106026 | |||||||
| chr17:43106110 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.212+346G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106110 | |||||||
| chr17:43106118 | T | C | 1 | a0003c0003t0002g0132 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.212+338A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106118 | |||||||
| chr17:43106131 | A | G | 13 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(10): Show |
14 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.212+325T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106131 | |||||||
| chr17:43106368 | G | A | 1 | a0003c0003t0004g0120 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.212+88C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106368 | |||||||
| chr17:43106433 | A | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.212+23T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 4/22 | chr17 | 43106433 | |||||||
| chr17:43106759 | A | T | 2 | a0004c0004t0001g0203 a0004c0004t0001g0240 |
2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.135-226T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43106759 | |||||||
| chr17:43106913 | C | T | 1 | a0001c0001t0001g0270 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.135-380G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43106913 | |||||||
| chr17:43106929 | T | C | 41 | a0002c0002t0002g0024 a0002c0002t0003g0025 a0003c0003t0002g0113 others(38): Show |
41 | HG00140.hp2 HG01109.hp2 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.135-396A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43106929 | |||||||
| chr17:43107032 | C | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.135-499G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107032 | |||||||
| chr17:43107062 | A | AT | 61 | a0001c0001t0001g0229 a0002c0002t0002g0008 a0002c0002t0002g0015 others(58): Show |
61 | HG00140.hp2 HG01109.hp2 HG01167.hp2 others(58): Show |
intron_variant | MODIFIER | c.135-530dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107062 | |||||||
| chr17:43107062 | A | ATT | 106 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(103): Show |
106 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.135-531_135-530dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107062 | |||||||
| chr17:43107062 | A | ATTT | 9 | a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 others(6): Show |
9 | HG00438.hp1 HG00741.hp1 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.135-532_135-530dup others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107062 | |||||||
| chr17:43107096 | G | A | 1 | a0001c0001t0001g0200 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.135-563C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107096 | |||||||
| chr17:43107226 | G | A | 1 | a0003c0003t0004g0153 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.135-693C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107226 | |||||||
| chr17:43107299 | G | A | 3 | a0003c0010t0002g0163 a0003c0010t0002g0164 a0012c0020t0002g0151 |
3 | HG01884.hp2 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.135-766C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107299 | |||||||
| chr17:43107345 | G | T | 3 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 |
3 | HG02055.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.135-812C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107345 | |||||||
| chr17:43107382 | AT | A | 17 | a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0024t0001g0230 others(14): Show |
17 | HG00140.hp2 HG01167.hp2 HG01169.hp1 others(14): Show |
intron_variant | MODIFIER | c.135-850delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107382 | |||||||
| chr17:43107458 | A | G | 1 | a0002c0002t0003g0091 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.135-925T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107458 | |||||||
| chr17:43107490 | C | G | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.135-957G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107490 | |||||||
| chr17:43107537 | T | C | 1 | a0003c0003t0004g0120 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.135-1004A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107537 | |||||||
| chr17:43107576 | G | A | 1 | a0003c0003t0002g0159 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.135-1043C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107576 | |||||||
| chr17:43107764 | C | T | 14 | a0003c0003t0002g0114 a0003c0003t0004g0112 a0003c0003t0004g0120 others(11): Show |
14 | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.135-1231G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107764 | |||||||
| chr17:43107810 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.135-1277G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107810 | |||||||
| chr17:43107911 | A | G | 1 | a0002c0002t0002g0019 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.135-1378T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43107911 | |||||||
| chr17:43108335 | C | CA | 101 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(98): Show |
101 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.135-1803dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108335 | |||||||
| chr17:43108687 | A | G | 1 | a0003c0003t0002g0156 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.135-2154T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108687 | |||||||
| chr17:43108706 | C | CA | 111 | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0171 others(108): Show |
112 | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.135-2174dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108706 | |||||||
| chr17:43108706 | C | CAA | 47 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 others(44): Show |
47 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.135-2175_135-2174d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108706 | |||||||
| chr17:43108706 | C | CAAA | 8 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 others(5): Show |
8 | NA18944.hp1 NA18947.hp2 NA18960.hp2 others(5): Show |
intron_variant | MODIFIER | c.135-2176_135-2174d others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108706 | |||||||
| chr17:43108742 | C | T | 1 | a0003c0010t0002g0163 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.135-2209G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108742 | |||||||
| chr17:43108791 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.135-2258T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108791 | |||||||
| chr17:43108968 | G | C | 1 | a0002c0012t0003g0078 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.135-2435C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108968 | |||||||
| chr17:43108991 | C | T | 2 | a0001c0001t0001g0269 a0001c0001t0001g0270 |
2 | HG02258.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.135-2458G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43108991 | |||||||
| chr17:43109041 | T | TCTATCTA others(9): Show |
114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.135-2524_135-2509d others(18): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109041 | |||||||
| chr17:43109216 | C | T | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.135-2683G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109216 | |||||||
| chr17:43109219 | A | G | 1 | a0003c0003t0004g0120 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.135-2686T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109219 | |||||||
| chr17:43109294 | G | A | 1 | a0005c0006t0003g0079 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.135-2761C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109294 | |||||||
| chr17:43109381 | T | A | 1 | a0002c0002t0002g0080 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.135-2848A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109381 | |||||||
| chr17:43109515 | G | A | 1 | a0002c0005t0003g0017 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.135-2982C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109515 | |||||||
| chr17:43109546 | A | T | 13 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(10): Show |
14 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.135-3013T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109546 | |||||||
| chr17:43109898 | C | CT | 5 | a0003c0003t0002g0275 a0004c0004t0001g0238 a0004c0004t0001g0239 others(2): Show |
5 | HG01081.hp1 HG01167.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.135-3366dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109898 | |||||||
| chr17:43109923 | C | T | 2 | a0003c0003t0002g0115 a0003c0003t0002g0157 |
2 | HG04199.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.135-3390G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43109923 | |||||||
| chr17:43110084 | C | T | 2 | a0003c0003t0004g0135 a0003c0003t0004g0136 |
2 | HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.135-3551G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110084 | |||||||
| chr17:43110085 | G | A | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.135-3552C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110085 | |||||||
| chr17:43110174 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.135-3641C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110174 | |||||||
| chr17:43110292 | T | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.135-3759A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110292 | |||||||
| chr17:43110340 | A | G | 5 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.135-3807T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110340 | |||||||
| chr17:43110520 | A | G | 1 | a0001c0001t0001g0246 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.135-3987T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110520 | |||||||
| chr17:43110532 | G | A | 2 | a0004c0004t0001g0237 a0004c0004t0001g0241 |
2 | HG00099.hp1 HG00741.hp1 |
intron_variant | MODIFIER | c.135-3999C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110532 | |||||||
| chr17:43110587 | CA | C | 8 | a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0001g0212 others(5): Show |
8 | HG00099.hp1 HG01517.hp1 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.135-4055delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110587 | |||||||
| chr17:43110694 | G | C | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.135-4161C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110694 | |||||||
| chr17:43110876 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.135-4343C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43110876 | |||||||
| chr17:43111027 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.135-4494T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111027 | |||||||
| chr17:43111066 | A | G | 2 | a0003c0003t0006g0116 a0003c0003t0006g0134 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.135-4533T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111066 | |||||||
| chr17:43111100 | C | CA | 100 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(97): Show |
100 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(97): Show |
intron_variant | MODIFIER | c.135-4568dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111100 | |||||||
| chr17:43111100 | C | CAA | 10 | a0001c0001t0001g0177 a0004c0004t0001g0203 a0004c0004t0001g0237 others(7): Show |
10 | HG00099.hp1 HG00741.hp1 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.135-4569_135-4568d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111100 | |||||||
| chr17:43111388 | C | T | 1 | a0003c0003t0004g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.134+4338G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111388 | |||||||
| chr17:43111549 | T | C | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.134+4177A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111549 | |||||||
| chr17:43111593 | G | A | 3 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 |
3 | HG00280.hp1 NA18959.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.134+4133C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111593 | |||||||
| chr17:43111678 | T | C | 1 | a0002c0002t0002g0085 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.134+4048A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111678 | |||||||
| chr17:43111683 | G | A | 1 | a0005c0006t0003g0082 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.134+4043C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111683 | |||||||
| chr17:43111828 | A | C | 2 | a0002c0002t0003g0037 a0002c0002t0003g0091 |
2 | HG02559.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.134+3898T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43111828 | |||||||
| chr17:43112129 | G | A | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.134+3597C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112129 | |||||||
| chr17:43112307 | C | T | 1 | a0003c0003t0002g0132 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.134+3419G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112307 | |||||||
| chr17:43112322 | G | A | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.134+3404C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112322 | |||||||
| chr17:43112347 | A | G | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.134+3379T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112347 | |||||||
| chr17:43112507 | G | C | 1 | a0017c0017t0002g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.134+3219C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112507 | |||||||
| chr17:43112722 | C | T | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+3004G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112722 | |||||||
| chr17:43112724 | G | C | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+3002C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112724 | |||||||
| chr17:43112726 | C | T | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+3000G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112726 | |||||||
| chr17:43112727 | T | C | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2999A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112727 | |||||||
| chr17:43112729 | T | G | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2997A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112729 | |||||||
| chr17:43112730 | C | T | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2996G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112730 | |||||||
| chr17:43112732 | C | G | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2994G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112732 | |||||||
| chr17:43112733 | A | G | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2993T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112733 | |||||||
| chr17:43112734 | A | G | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2992T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112734 | |||||||
| chr17:43112736 | C | T | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2990G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112736 | |||||||
| chr17:43112738 | TGAAAC | T | 161 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(158): Show |
161 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.134+2983_134+2987d others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112738 | |||||||
| chr17:43112809 | G | GT | 10 | a0001c0001t0001g0208 a0001c0001t0001g0263 a0002c0002t0002g0035 others(7): Show |
10 | HG00558.hp1 HG01884.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.134+2916dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43112809 | |||||||
| chr17:43113054 | T | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.134+2672A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113054 | |||||||
| chr17:43113362 | ATTTTC | A | 38 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(35): Show |
38 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
intron_variant | MODIFIER | c.134+2359_134+2363d others(7): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113362 | |||||||
| chr17:43113610 | G | A | 1 | a0001c0001t0001g0262 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.134+2116C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113610 | |||||||
| chr17:43113759 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.134+1967T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113759 | |||||||
| chr17:43113790 | G | C | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.134+1936C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113790 | |||||||
| chr17:43113938 | G | A | 47 | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 others(44): Show |
47 | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(44): Show |
intron_variant | MODIFIER | c.134+1788C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43113938 | |||||||
| chr17:43114050 | G | A | 1 | a0016c0016t0002g0083 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.134+1676C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114050 | |||||||
| chr17:43114074 | C | CA | 49 | a0001c0001t0001g0168 a0002c0002t0003g0091 a0003c0003t0002g0113 others(46): Show |
49 | HG01109.hp2 HG01169.hp1 HG01884.hp1 others(46): Show |
intron_variant | MODIFIER | c.134+1651dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114074 | |||||||
| chr17:43114094 | G | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.134+1632C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114094 | |||||||
| chr17:43114335 | G | A | 2 | a0006c0009t0005g0273 a0006c0026t0005g0274 |
2 | NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.134+1391C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114335 | |||||||
| chr17:43114390 | C | CT | 149 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(146): Show |
149 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.134+1335dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114390 | |||||||
| chr17:43114390 | C | CTT | 21 | a0001c0001t0002g0172 a0003c0003t0003g0001 a0003c0003t0003g0109 others(18): Show |
22 | HG00735.hp2 HG01109.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.134+1334_134+1335d others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114390 | |||||||
| chr17:43114658 | G | A | 1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.134+1068C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114658 | |||||||
| chr17:43114846 | C | T | 1 | a0003c0003t0002g0156 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.134+880G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114846 | |||||||
| chr17:43114869 | C | T | 1 | a0002c0002t0002g0007 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.134+857G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114869 | |||||||
| chr17:43114931 | A | C | 1 | a0003c0003t0002g0121 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.134+795T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114931 | |||||||
| chr17:43114939 | C | T | 1 | a0017c0017t0002g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.134+787G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114939 | |||||||
| chr17:43114980 | C | T | 2 | a0001c0001t0001g0171 a0010c0025t0001g0103 |
2 | HG01069.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.134+746G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43114980 | |||||||
| chr17:43115033 | G | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.134+693C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115033 | |||||||
| chr17:43115162 | A | G | 1 | a0001c0001t0001g0189 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.134+564T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115162 | |||||||
| chr17:43115428 | G | C | 1 | a0003c0003t0004g0155 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.134+298C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115428 | |||||||
| chr17:43115430 | G | A | 1 | a0001c0001t0001g0246 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.134+296C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115430 | |||||||
| chr17:43115501 | C | CA | 12 | a0003c0003t0002g0114 a0003c0003t0002g0275 a0003c0003t0004g0112 others(9): Show |
12 | HG02145.hp2 HG02257.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.134+224dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115501 | |||||||
| chr17:43115501 | CA | C | 116 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(113): Show |
116 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.134+224delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115501 | |||||||
| chr17:43115524 | T | A | 2 | a0003c0003t0004g0154 a0003c0003t0004g0155 |
2 | HG06807.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.134+202A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115524 | |||||||
| chr17:43115615 | G | A | 6 | a0001c0001t0001g0178 a0001c0001t0001g0247 a0001c0001t0001g0248 others(3): Show |
6 | HG02027.hp1 HG02056.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.134+111C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115615 | |||||||
| chr17:43115624 | T | G | 1 | a0004c0004t0001g0256 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.134+102A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115624 | |||||||
| chr17:43115654 | T | A | 1 | a0004c0004t0001g0256 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.134+72A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115654 | |||||||
| chr17:43115680 | A | G | 1 | a0004c0004t0001g0256 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.134+46T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115680 | |||||||
| chr17:43115701 | A | G | 1 | a0004c0004t0001g0256 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.134+25T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115701 | |||||||
| chr17:43115709 | A | G | 1 | a0004c0004t0001g0256 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.134+17T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | 43115709 | |||||||
| chr17:43115968 | T | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.81-189A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43115968 | |||||||
| chr17:43116189 | A | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.81-410T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116189 | |||||||
| chr17:43116191 | C | CT | 112 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(109): Show |
112 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.81-413dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116191 | |||||||
| chr17:43116287 | T | G | 1 | a0002c0002t0002g0084 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.81-508A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116287 | |||||||
| chr17:43116451 | G | C | 9 | a0003c0003t0002g0113 a0003c0003t0002g0138 a0003c0003t0002g0139 others(6): Show |
9 | HG01109.hp2 HG01891.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.81-672C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116451 | |||||||
| chr17:43116482 | C | T | 1 | a0001c0001t0001g0207 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.81-703G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116482 | |||||||
| chr17:43116501 | C | T | 1 | a0002c0002t0002g0004 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.81-722G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116501 | |||||||
| chr17:43116581 | C | T | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.81-802G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116581 | |||||||
| chr17:43116729 | G | A | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.81-950C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116729 | |||||||
| chr17:43116863 | T | C | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA19058.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.81-1084A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116863 | |||||||
| chr17:43116981 | A | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.81-1202T>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43116981 | |||||||
| chr17:43117163 | C | T | 1 | a0011c0015t0002g0028 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.81-1384G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117163 | |||||||
| chr17:43117319 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.81-1540C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117319 | |||||||
| chr17:43117480 | G | T | 1 | a0001c0001t0001g0171 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.81-1701C>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117480 | |||||||
| chr17:43117506 | C | T | 1 | a0003c0003t0002g0121 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81-1727G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117506 | |||||||
| chr17:43117511 | C | T | 1 | a0003c0003t0003g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.81-1732G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117511 | |||||||
| chr17:43117801 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.81-2022T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43117801 | |||||||
| chr17:43118008 | T | G | 1 | a0001c0001t0001g0254 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.81-2229A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118008 | |||||||
| chr17:43118212 | T | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.81-2433A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118212 | |||||||
| chr17:43118218 | G | A | 4 | a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0004g0149 others(1): Show |
4 | HG02109.hp1 HG02451.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.81-2439C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118218 | |||||||
| chr17:43118260 | C | T | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.81-2481G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118260 | |||||||
| chr17:43118318 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.81-2539A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118318 | |||||||
| chr17:43118338 | T | C | 9 | a0003c0003t0002g0113 a0003c0003t0002g0138 a0003c0003t0002g0139 others(6): Show |
9 | HG01109.hp2 HG01891.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.81-2559A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118338 | |||||||
| chr17:43118401 | G | C | 7 | a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 others(4): Show |
7 | HG02109.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.81-2622C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118401 | |||||||
| chr17:43118425 | G | A | 3 | a0003c0010t0002g0163 a0003c0010t0002g0164 a0012c0020t0002g0151 |
3 | HG01884.hp2 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.81-2646C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118425 | |||||||
| chr17:43118446 | G | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.81-2667C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118446 | |||||||
| chr17:43118462 | C | T | 1 | a0002c0002t0002g0027 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.81-2683G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118462 | |||||||
| chr17:43118649 | C | A | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.81-2870G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118649 | |||||||
| chr17:43118761 | C | CT | 111 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(108): Show |
111 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.81-2983dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118761 | |||||||
| chr17:43118985 | T | C | 1 | a0002c0002t0002g0085 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.81-3206A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43118985 | |||||||
| chr17:43119034 | G | A | 6 | a0003c0003t0004g0102 a0003c0003t0004g0152 a0003c0003t0004g0153 others(3): Show |
6 | HG01884.hp1 HG02922.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.81-3255C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119034 | |||||||
| chr17:43119205 | C | T | 1 | a0013c0027t0001g0268 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81-3426G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119205 | |||||||
| chr17:43119242 | C | G | 1 | a0003c0003t0002g0156 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.81-3463G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119242 | |||||||
| chr17:43119276 | GA | G | 186 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(183): Show |
187 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.81-3498delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119276 | |||||||
| chr17:43119277 | A | G | 1 | a0001c0001t0001g0186 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.81-3498T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119277 | |||||||
| chr17:43119317 | C | T | 1 | a0001c0001t0013g0204 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.81-3538G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119317 | |||||||
| chr17:43119341 | T | G | 1 | a0002c0002t0002g0085 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.81-3562A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119341 | |||||||
| chr17:43119625 | C | A | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.81-3846G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119625 | |||||||
| chr17:43119881 | G | C | 1 | a0002c0002t0002g0085 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.81-4102C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43119881 | |||||||
| chr17:43120123 | T | C | 2 | a0001c0001t0001g0185 a0001c0001t0001g0188 |
2 | NA18998.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.80+3894A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120123 | |||||||
| chr17:43120142 | C | T | 6 | a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | NA18939.hp2 NA18940.hp1 NA18974.hp2 others(3): Show |
intron_variant | MODIFIER | c.80+3875G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120142 | |||||||
| chr17:43120293 | G | C | 2 | a0006c0009t0005g0273 a0006c0026t0005g0274 |
2 | NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.80+3724C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120293 | |||||||
| chr17:43120426 | C | T | 1 | a0002c0002t0002g0024 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.80+3591G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120426 | |||||||
| chr17:43120689 | C | T | 1 | a0006c0009t0005g0272 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.80+3328G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120689 | |||||||
| chr17:43120722 | G | A | 2 | a0001c0001t0001g0255 a0001c0001t0001g0263 |
2 | NA19030.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.80+3295C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120722 | |||||||
| chr17:43120810 | T | C | 1 | a0002c0002t0003g0086 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.80+3207A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120810 | |||||||
| chr17:43120876 | C | T | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.80+3141G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120876 | |||||||
| chr17:43120943 | A | G | 1 | a0001c0001t0001g0185 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.80+3074T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120943 | |||||||
| chr17:43120979 | G | A | 2 | a0002c0002t0002g0016 a0002c0002t0002g0023 |
2 | HG01099.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.80+3038C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43120979 | |||||||
| chr17:43121006 | G | A | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.80+3011C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121006 | |||||||
| chr17:43121078 | G | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.80+2939C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121078 | |||||||
| chr17:43121231 | C | T | 13 | a0003c0003t0003g0001 a0003c0003t0003g0109 a0003c0003t0003g0117 others(10): Show |
14 | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.80+2786G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121231 | |||||||
| chr17:43121331 | T | C | 175 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(172): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
intron_variant | MODIFIER | c.80+2686A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121331 | |||||||
| chr17:43121349 | T | G | 1 | a0003c0003t0002g0114 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.80+2668A>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121349 | |||||||
| chr17:43121362 | G | C | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.80+2655C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121362 | |||||||
| chr17:43121405 | C | T | 2 | a0002c0002t0002g0016 a0002c0002t0002g0023 |
2 | HG01099.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.80+2612G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121405 | |||||||
| chr17:43121520 | A | C | 115 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(112): Show |
115 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.80+2497T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121520 | |||||||
| chr17:43121641 | C | G | 1 | a0003c0003t0002g0121 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.80+2376G>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121641 | |||||||
| chr17:43121683 | C | CA | 21 | a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0087 others(18): Show |
21 | HG02055.hp2 HG02074.hp2 HG02145.hp2 others(18): Show |
intron_variant | MODIFIER | c.80+2333dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121683 | |||||||
| chr17:43121683 | C | CAA | 6 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0202 others(3): Show |
6 | HG01975.hp2 HG02300.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.80+2332_80+2333dup others(2): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121683 | |||||||
| chr17:43121683 | C | CAAA | 81 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0168 others(78): Show |
81 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(78): Show |
intron_variant | MODIFIER | c.80+2331_80+2333dup others(3): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121683 | |||||||
| chr17:43121683 | C | CAAAA | 17 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0179 others(14): Show |
17 | HG00438.hp1 HG01123.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80+2330_80+2333dup others(4): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121683 | |||||||
| chr17:43121683 | CA | C | 7 | a0002c0002t0002g0016 a0002c0002t0002g0019 a0002c0002t0002g0020 others(4): Show |
7 | HG01099.hp1 HG02300.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.80+2333delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43121683 | |||||||
| chr17:43122547 | T | A | 1 | a0001c0001t0001g0264 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.80+1470A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122547 | |||||||
| chr17:43122761 | G | A | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.80+1256C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122761 | |||||||
| chr17:43122772 | C | T | 3 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 |
3 | HG02615.hp1 NA18522.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.80+1245G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122772 | |||||||
| chr17:43122845 | G | A | 2 | a0002c0002t0002g0015 a0002c0002t0002g0093 |
2 | NA18940.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.80+1172C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122845 | |||||||
| chr17:43122882 | T | TA | 7 | a0001c0001t0001g0198 a0001c0001t0001g0266 a0003c0003t0003g0117 others(4): Show |
7 | HG01192.hp2 HG02615.hp1 HG03516.hp2 others(4): Show |
intron_variant | MODIFIER | c.80+1134dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122882 | |||||||
| chr17:43122889 | G | A | 173 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(170): Show |
174 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.80+1128C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43122889 | |||||||
| chr17:43123064 | G | GA | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.80+952dupT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123064 | |||||||
| chr17:43123108 | A | G | 1 | a0001c0001t0001g0199 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.80+909T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123108 | |||||||
| chr17:43123134 | G | C | 110 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.80+883C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123134 | |||||||
| chr17:43123306 | G | A | 1 | a0001c0001t0001g0267 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.80+711C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123306 | |||||||
| chr17:43123322 | ATCC | A | 23 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(20): Show |
23 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(20): Show |
intron_variant | MODIFIER | c.80+692_80+694delGG others(1): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123322 | |||||||
| chr17:43123329 | CA | C | 23 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(20): Show |
23 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(20): Show |
intron_variant | MODIFIER | c.80+687delT | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123329 | |||||||
| chr17:43123332 | C | A | 1 | a0002c0002t0002g0094 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.80+685G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123332 | |||||||
| chr17:43123349 | G | GT | 31 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(28): Show |
31 | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.80+667dupA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123349 | |||||||
| chr17:43123349 | GT | G | 51 | a0002c0002t0002g0095 a0003c0003t0002g0121 a0003c0003t0002g0132 others(48): Show |
52 | HG00735.hp2 HG01109.hp2 HG01167.hp2 others(49): Show |
intron_variant | MODIFIER | c.80+667delA | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123349 | |||||||
| chr17:43123351 | T | A | 1 | a0003c0003t0004g0162 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.80+666A>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123351 | |||||||
| chr17:43123628 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.80+389T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123628 | |||||||
| chr17:43123638 | G | A | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.80+379C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123638 | |||||||
| chr17:43123815 | G | A | 4 | a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 others(1): Show |
4 | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.80+202C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 2/22 | chr17 | 43123815 | |||||||
| chr17:43124118 | T | C | 1 | a0013c0027t0001g0268 | 1 | HG02683.hp2 | splice_region_variant&intron_variant | LOW | c.-19-3A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124118 | |||||||
| chr17:43124230 | A | G | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.-19-115T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124230 | |||||||
| chr17:43124239 | CAAAGAAC others(20): Show |
C | 1 | a0003c0003t0002g0165 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-19-151_-19-125del others(27): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124239 | |||||||
| chr17:43124331 | T | C | 114 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(111): Show |
114 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.-19-216A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124331 | |||||||
| chr17:43124345 | T | TGGGGAGG others(23): Show |
1 | a0018c0028t0002g0100 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-19-231_-19-230ins others(30): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124345 | |||||||
| chr17:43124476 | G | A | 2 | a0001c0001t0001g0269 a0001c0001t0001g0270 |
2 | HG02258.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.-19-361C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124476 | |||||||
| chr17:43124505 | C | T | 1 | a0003c0003t0004g0102 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-19-390G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124505 | |||||||
| chr17:43124513 | A | G | 1 | a0003c0003t0004g0102 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-19-398T>C | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124513 | |||||||
| chr17:43124741 | C | T | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-20+530G>A | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124741 | |||||||
| chr17:43124747 | TTTTTG | T | 6 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show |
6 | HG01891.hp2 HG02055.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-20+519_-20+523del others(5): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124747 | |||||||
| chr17:43124747 | TTTTTGTT others(3): Show |
T | 2 | a0003c0003t0004g0102 a0010c0025t0001g0103 |
2 | HG01069.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-20+514_-20+523del others(10): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124747 | |||||||
| chr17:43124760 | T | C | 1 | a0021c0019t0004g0271 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-20+511A>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124760 | |||||||
| chr17:43124935 | G | A | 4 | a0006c0009t0005g0272 a0006c0009t0005g0273 a0006c0026t0005g0274 others(1): Show |
4 | HG02615.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.-20+336C>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43124935 | |||||||
| chr17:43125083 | C | A | 1 | a0003c0003t0002g0275 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-20+188G>T | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43125083 | |||||||
| chr17:43125086 | A | C | 1 | a0015c0013t0014g0101 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-20+185T>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43125086 | |||||||
| chr17:43125170 | G | C | 175 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(172): Show |
176 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
intron_variant | MODIFIER | c.-20+101C>G | BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | 43125170 |