Gene | Mutation | COSMIC reference | Pathogenicity prediction | Patient | Allelic frequency | % tum cells | Lung disease | Cancer | ||
---|---|---|---|---|---|---|---|---|---|---|
MET | Chr7:g.116340214G > A | c.1076G > A | p.Arg359Gln | COSM1286164 | probably benign | P01 | 49.4 | 50 | IPF | SCC |
Chr7:g.116411867G > A | c.2942–36G > A | P15 | NS | IPF | ADS | |||||
Chr7:g.116411923C > T | c.2962C > T | p.Arg988Cys | COSM1666978 | unknown | P05 | 33.9 | 30 | IPF | SCC | |
Chr7:g.116411992A > G | c.2977A > G | p.Thr1011Ala | / | unknown | P22 | 27.6 | 50 | CTD-ILD | ADC | |
BRAF | Chr7:g.140481402C > G | c.1406G > C | p.Gly469Ala | COSM460 | pathogenic | P17 | 71.8 | 90 | pneumoconiosis | SCC |
Chr7:g.140481402C > G | c.1406G > C | p.Gly469Ala | COSM460 | pathogenic | P28 | 46.9 | 70 | drug-induced LF | ADC | |
Chr7:g.140453134T > C | c.1801A > G | p.Lys601Glu | COSM478 | pathogenic | P20 | 27.6 | 40 | CTD-ILD | ADC | |
PIK3CA | Chr3:g.178936082G > A | c.1624G > A | p.Glu542Lys | COSM760 | pathogenic | P28 | 64.2 | 70 | drug-induced LF | ADC |
Chr3:g.178936082G > A | c.1624G > A | p.Glu542Lys | COSM760 | pathogenic | P15 | 48 | NS | IPF | ADS | |
Chr3.g.178938847A > T | c.2089A > T | p.Met697Leu | / | unknown | P25 | 8.5 | 50 | NSIP | ADC | |
FGFR3 | Chr4:g.1806149G > C | c.1168G > C | p.Val390Leu | / | unknown | P25 | 9.6 | 50 | NSIP | ADC |
Chr4:g.1807891G > C | c.1950G > C | p.Lys650Asn | COSM3993568 | pathogenic | P29 | 16.3 | >50 | pneumoconiosis | SmCC | |
PTEN | Chr10:g.89720729del | c.880del | p.Ser294Valfs*13 | / | pathogenic | P02 | 20.1 | 40 | IPF | SCC |
Chr10:g.89720852C > T | c.1003C > T | p.Arg335* | COSM5151 | pathogenic | P02 | 34.5 | 40 | IPF | SCC | |
STK11 | Chr19:g.1221249del | c.772del | p.Asp258Thrfs*29 | / | pathogenic | P06 | 93.6 | 50 | IPF | SCC |
Chr19:g.1223125C > G | c.1062C > G | p.Phe354Leu | COSM21360 | benign | P20 | 49.1 | 40 | CTD-ILD | ADC | |
SMAD4 | Chr18:g.48591865C > G | c.1028C > G | p.Ser343* | COSM14111 | pathogenic | P05 | 17.7 | 30 | IPF | SCC |
CTNNB1 | Chr3:g.41266113C > G | c.110C > G | p.Ser37Cys | COSM5679 | pathogenic | P26 | 34.4 | 50 | NSIP | ADC |
DDR2 | Chr1:g.162729689T > A | c.775T > A | p.Trp259Arg | / | pathogenic | P24 | 33.0 | 70 | CTD-ILD | ADS |
ERBB4 | Chr2:g.212576809C > A | c.1090G > T | p.Gly364Trp | / | pathogenic | P25 | 18.2 | 50 | NSIP | ADC |
FBXW7 | Chr4:g.153249370G > A | c.1408C > T | p.His470Tyr | / | probably pathogenic | P06 | 29.5 | 50 | IPF | SCC |
KRAS | Chr12:g.25398285C > A | c.34G > T | p.Gly12Cys | COSM516 | pathogenic | P26 | 35.1 | 50 | NSIP | ADC |
EGFR amplification (6.5 copies) | P10 | 10 | IPF | ADC |