Sample | Quality by QFI-PCR | QFI (%) | Percentage functional (Qubit) | Total number of mutations from AmpliSeq | Overlapping variants in 16 gene panel | Overlapping variants in 16 gene panel (PIK3CA false positives removeda) | Overlapping variants in 16 gene panel (PIK3CA false positives removedaand >5%) | Variant confirmed with independent run (16 gene panel) | True positives (%) | Number of germline SNPs annotated in dbSNP | Confirmed COSMIC mutation |
---|---|---|---|---|---|---|---|---|---|---|---|
RS00863 | Low | 0.5 | 4 | 451 | 48 | 44 | 28 | 3 | 10.7 | 2 | BRAF V600E 23.8% |
RS00856 | Low | 0.7 | 5 | 352 | 42 | 36 | 26 | 3 | 11.5 | 2 | KRAS G13C 29.0% |
RS01279 | Low | 1.1 | 4 | 123 | 23 | 19 | 8 | 3 | 37.5 | 3 | None |
RS00865 | Low | 2.2 | 4 | 222 | 33 | 30 | 21 | 3 | 14.3 | 2 | NRAS G12R 23.0% |
RS01283 | Low | 2.3 | 0 | 31 | 9 | 6 | 3 | 3 | 100.0 | 3 | None |
RS01282 | Low | 2.4 | 5 | 98 | 21 | 17 | 10 | 3 | 30.0 | 3 | None |
RS01289 | Low | 2.7 | 2 | 35 | 11 | 8 | 5 | 4 | 80.0 | 3 | None |
RS01274 | Low | 2.9 | 3 | 22 | 12 | 9 | 6 | 4 | 66.7 | 3 | NRAS Q61R 42.6% |
RS00866 | Medium | 6.3 | 7 | 24 | 11 | 8 | 5 | 5 | 100.0 | 3 | NRAS Q61H 72.1% |
PIK3CA H1047R 12.4% | |||||||||||
RS00860 | Medium | 6.5 | 7 | 19 | 7 | 4 | 3 | 3 | 100.0 | 3 | None |
RS01294 | Medium | 6.6 | 8 | 8 | 3 | 3 | 3 | 3 | 100.0 | 3 | None |
RS00875 | Medium | 6.7 | 5 | 17 | 6 | 3 | 2 | 1 | 50.0 | 1 | None |
RS00855 | Medium | 6.8 | 11 | 16 | 8 | 5 | 3 | 3 | 100.0 | 2 | KRAS G12D 37.8% |
RS00876 | High | 16.5 | 12 | 15 | 6 | 4 | 4 | 3 | 75.0 | 2 | PIK3CA H1047R 43.6% |
RS01291 | High | 16.9 | 13 | 18 | 9 | 6 | 3 | 3 | 100.0 | 3 | None |
RS00871 | High | 17.8 | 16 | 9 | 4 | 2 | 2 | 2 | 100.0 | 2 | None |
RS00873 | High | 19.5 | 10 | 14 | 6 | 3 | 3 | 3 | 100.0 | 3 | None |
RS00857 | High | 20.5 | 13 | 15 | 5 | 4 | 4 | 4 | 100.0 | 3 | KRAS G12V 29.8% |
RS00877 | High | 23.9 | 20 | 12 | 7 | 4 | 4 | 4 | 100.0 | 3 | KRAS G12S 48.0% |