Gene Name HGNC ID COSMIC_MutID Primary sitePrimary histology AA-Mutation Mutation Type Genomic PositionFATHMM predictionFATHMM scoreLiterature evidence
YES112841COSM6919051, lungcarcinomap.R395LSubstitution - Missense18:736915-736915, PATHOGENIC0.9966428481359
YES112841COSM6979814, breastcarcinomap.S79LSubstitution - Missense18:756592-756592, PATHOGENIC0.9960928481359
YES112841COSM6955247, large_intestinecarcinomap.E534*Substitution - Nonsense18:724456-724456, PATHOGENIC0.9958628481359
YES112841COSM6934003, skinmalignant_melanomap.S84LSubstitution - Missense18:756577-756577, PATHOGENIC0.9957728481359
YES112841COSM4741841, large_intestinecarcinomap.E290KSubstitution - Missense18:743272-743272, PATHOGENIC0.9946328481359
YES112841COSM6982918, skincarcinomap.G284ESubstitution - Missense18:743289-743289, PATHOGENIC0.9946328481359
YES112841COSM4741841, skinmalignant_melanomap.E290KSubstitution - Missense18:743272-743272, PATHOGENIC0.9946328481359
YES112841COSM6914080, large_intestinecarcinomap.G383CSubstitution - Missense18:736952-736952, PATHOGENIC0.9944128481359
YES112841COSM6968831, lungcarcinomap.W270RSubstitution - Missense18:743332-743332, PATHOGENIC0.9942928481359
YES112841COSM6913717, central_nervous_systemgliomap.A385TSubstitution - Missense18:736946-736946, PATHOGENIC0.9933928481359
YES112841COSM6906826, breastcarcinomap.D364HSubstitution - Missense18:739782-739782, PATHOGENIC0.9932128481359
YES112841COSM6941613, skinmalignant_melanomap.S44LSubstitution - Missense18:756697-756697, PATHOGENIC0.9931428481359
YES112841COSM6931485, urinary_tractcarcinomap.Q154ESubstitution - Missense18:747930-747930, PATHOGENIC0.9925228481359
YES112841COSM6923691, soft_tissuegastrointestinal_stromal_tumourp.K369*Substitution - Nonsense18:739767-739767, PATHOGENIC0.992128481359
YES112841COSM6912335, large_intestinecarcinomap.P334ASubstitution - Missense18:742978-742978, PATHOGENIC0.9918428481359
YES112841COSM6912334, large_intestinecarcinomap.S340CSubstitution - Missense18:742959-742959, PATHOGENIC0.9918428481359
YES112841COSM6912336, large_intestinecarcinomap.Q322ESubstitution - Missense18:743014-743014, PATHOGENIC0.9918428481359
YES112841COSM6950772, skinmalignant_melanomap.S197FSubstitution - Missense18:745842-745842, PATHOGENIC0.9916828481359
YES112841COSM6935541, endometriumcarcinomap.E271KSubstitution - Missense18:743329-743329, PATHOGENIC0.9909128481359
YES112841COSM6980351, breastcarcinomap.E483QSubstitution - Missense18:724609-724609, PATHOGENIC0.9903628481359
YES112841COSM6915180, lungcarcinomap.P492QSubstitution - Missense18:724581-724581, PATHOGENIC0.9898628481359
YES112841COSM6959095, boneosteosarcomap.T348ISubstitution - Missense18:742935-742935, PATHOGENIC0.9898128481359
YES112841COSM6977613, breastcarcinomap.R105TSubstitution - Missense18:751762-751762, PATHOGENIC0.9896528481359
YES112841COSM48846, lungcarcinomap.W158LSubstitution - Missense18:746049-746049, PATHOGENIC0.9892618948947
YES112841COSM49006, lungcarcinomap.?Unknown18:751704-751704, PATHOGENIC0.9891618948947
YES112841COSM6976115, upper_aerodigestive_tractcarcinomap.Q430*Substitution - Nonsense18:736811-736811, PATHOGENIC0.9884828481359
YES112841COSM6940532, haematopoietic_and_lymphoid_tissuelymphoid_neoplasmp.P492SSubstitution - Missense18:724582-724582, PATHOGENIC0.9884328481359
YES112841COSM6917082, NScarcinomap.V404LSubstitution - Missense18:736889-736889, PATHOGENIC0.9878728481359
YES112841COSM6914646, ovarycarcinomap.S65FSubstitution - Missense18:756634-756634, PATHOGENIC0.9872728481359
YES112841COSM6944975, lungcarcinomap.E8QSubstitution - Missense18:756806-756806, PATHOGENIC0.9870628481359
YES112841COSM6231778, skinmalignant_melanomap.D109NSubstitution - Missense18:751751-751751, PATHOGENIC0.9858228481359
YES112841COSM6944507, endometriumcarcinomap.E103GSubstitution - Missense18:751768-751768, PATHOGENIC0.9845528481359
YES112841COSM6984976, large_intestinecarcinomap.R470QSubstitution - Missense18:732848-732848, PATHOGENIC0.983328481359
YES112841COSM6980053, lungcarcinomap.N401DSubstitution - Missense18:736898-736898, PATHOGENIC0.9831128481359
YES112841COSM6957604, peniscarcinomap.Q322PSubstitution - Missense18:743013-743013, PATHOGENIC0.9830328481359
YES112841COSM6982957, large_intestinecarcinomap.A148VSubstitution - Missense18:747947-747947, PATHOGENIC0.9828728481359
YES112841COSM6932261, skincarcinomap.E125KSubstitution - Missense18:748017-748017, PATHOGENIC0.9827828481359
YES112841COSM6922065, soft_tissueliposarcomap.S56GSubstitution - Missense18:756662-756662, PATHOGENIC0.9822328481359
YES112841COSM6971175, skinadnexal_tumourp.K353ISubstitution - Missense18:742920-742920, PATHOGENIC0.9819828481359
YES112841COSM228200, skincarcinomap.S500FSubstitution - Missense18:724557-724557, PATHOGENIC0.981628481359
YES112841COSM6966397, lungcarcinomap.K5ESubstitution - Missense18:756815-756815, PATHOGENIC0.9811228481359
YES112841COSM6924782, breastcarcinomap.E349KSubstitution - Missense18:742933-742933, PATHOGENIC0.980828481359
YES112841COSM6968146, lungcarcinomap.H502LSubstitution - Missense18:724551-724551, PATHOGENIC0.9802628481359
YES112841COSM6915720, large_intestinecarcinomap.K353ESubstitution - Missense18:742921-742921, PATHOGENIC0.9795728481359
YES112841COSM990024, large_intestinecarcinomap.R117ISubstitution - Missense18:751726-751726, PATHOGENIC0.9785128481359
YES112841COSM990024, large_intestinecarcinomap.R117ISubstitution - Missense18:751726-751726, PATHOGENIC0.9785128481359
YES112841COSM6968355, breastcarcinomap.D514NSubstitution - Missense18:724516-724516, PATHOGENIC0.9752628481359
YES112841COSM3146913, large_intestinecarcinomap.R179QSubstitution - Missense18:745986-745986, PATHOGENIC0.9716128481359
YES112841COSM6920698, urinary_tractcarcinomap.R199CSubstitution - Missense18:745837-745837, PATHOGENIC0.9698728481359
YES112841COSM6944417, large_intestinecarcinomap.R398WSubstitution - Missense18:736907-736907, PATHOGENIC0.9686628481359
YES112841COSM5948366, large_intestinecarcinomap.R487QSubstitution - Missense18:724596-724596, PATHOGENIC0.9671828481359
YES112841COSM5948366, large_intestinecarcinomap.R487QSubstitution - Missense18:724596-724596, PATHOGENIC0.9671828481359
YES112841COSM6981599, urinary_tractcarcinomap.R448WSubstitution - Missense18:732915-732915, PATHOGENIC0.9657928481359
YES112841COSM6934198, stomachcarcinomap.R117KSubstitution - Missense18:751726-751726, PATHOGENIC0.9650828481359
YES112841COSM6967884, lungcarcinomap.S77LSubstitution - Missense18:756598-756598, PATHOGENIC0.9613828481359
YES112841COSM6912333, large_intestinecarcinomap.S352LSubstitution - Missense18:742923-742923, PATHOGENIC0.9491828481359
YES112841COSM6935542, endometriumcarcinomap.T241ASubstitution - Missense18:745711-745711, PATHOGENIC0.9485328481359
YES112841COSM6912337, large_intestinecarcinomap.I304MSubstitution - Missense18:743066-743066, PATHOGENIC0.941628481359
YES112841COSM6961023, kidneycarcinomap.L357ISubstitution - Missense18:739803-739803, PATHOGENIC0.9337328481359
YES112841COSM4440509, central_nervous_systemgliomap.R278*Substitution - Nonsense18:743308-743308, PATHOGENIC0.9315328481359
YES112841COSM6919634, central_nervous_systemgliomap.A87PSubstitution - Missense18:756569-756569, PATHOGENIC0.8816728481359
YES112841COSM6987503, large_intestinecarcinomap.N20SSubstitution - Missense18:756769-756769, PATHOGENIC0.8673628481359
YES112841COSM6909179, prostatecarcinomap.S40*Substitution - Nonsense18:756709-756709, PATHOGENIC0.8139828481359
YES112841COSM6984622, endometriumcarcinomap.R17KSubstitution - Missense18:756778-756778, PATHOGENIC0.7727928481359
YES112841COSM6932967, skincarcinomap.V52GSubstitution - Missense18:756673-756673, NEUTRAL0.085528481359
YES112841COSM989973, central_nervous_system, kidney, large_intestine, skincarcinoma, glioma, malignant_melanomap.D454fs*12, p.G72K, p.H394fs*11, p.S187fs*1, p.T21fs*33Deletion - Frameshift, Insertion - Frameshift, Substitution - Missense18:756766-756767, Info_not_availableInfo_not_available28481359