Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

6662

Name

SOX9

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.359G>T; p.R120L; 17:72121750-72121750

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568G>C; p.E190Q; 17:72122855-72122855

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.568G>C; p.E190Q; 17:72122855-72122855

urinary_tract; bladdercarcinomaSubstitution - Missense

c.336C>A; p.F112L; 17:72121727-72121727

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1300delC; p.I435fs*35; 17:72124157-72124157

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.622C>T; p.Q208*; 17:72122909-72122909

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.68_69insCC; p.T25fs*37; 17:72121459-72121460

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1457T>C; p.V486A; 17:72124314-72124314

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1231C>T; p.Q411*; 17:72124088-72124088

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1237_1238insTG; p.H413fs*58; 17:72124094-72124095

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.526C>T; p.P176S; 17:72122813-72122813

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.591_592insTC; p.I198fs*22; 17:72122878-72122879

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1421_1422insC; p.M476fs*>35; 17:72124278-72124279

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.526C>T; p.P176S; 17:72122813-72122813

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591_592insTC; p.I198fs*22; 17:72122878-72122879

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.640T>C; p.S214P; 17:72122927-72122927

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1283A>G; p.Y428C; 17:72124140-72124140

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1484C>T; p.P495L; 17:72124341-72124341

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.220C>T; p.R74C; 17:72121611-72121611

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1249C>T; p.Q417*; 17:72124106-72124106

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1249C>T; p.Q417*; 17:72124106-72124106

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.496_498delAAG; p.K166delK; 17:72122783-72122785

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.496_498delAAG; p.K166delK; 17:72122783-72122785

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.496_498delAAG; p.K166delK; 17:72122783-72122785

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.496_498delAAG; p.K166delK; 17:72122783-72122785

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1529G>C; p.*510S; 17:72124386-72124386

breastcarcinomaNonstop extension

c.767_768insGC; p.P258fs*22; 17:72123624-72123625

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.791G>C; p.R264T; 17:72123648-72123648

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.486_487insGT; p.Q164fs*20; 17:72122773-72122774

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.791G>C; p.R264T; 17:72123648-72123648

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.426C>T; p.L142L; 17:72121817-72121817

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.92C>T; p.A31V; 17:72121483-72121483

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1343_1344delCC; p.S448fs*1; 17:72124200-72124201

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.500A>C; p.K167T; 17:72122787-72122787

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1330G>A; p.D444N; 17:72124187-72124187

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.684delG; p.Q230fs*23; 17:72122971-72122971

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.761G>A; p.R254Q; 17:72123618-72123618

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1344C>T; p.S448S; 17:72124201-72124201

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1421G>A; p.R474H; 17:72124278-72124278

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1133_1134insGG; p.A379fs*5; 17:72123990-72123991

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.260C>A; p.T87K; 17:72121651-72121651

livercarcinomaSubstitution - Missense

c.686-1G>A; p.?; 17:72123542-72123542

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.723C>T; p.P241P; 17:72123580-72123580

meningesmeningiomaSubstitution - coding silent

c.62delC; p.S23fs*38; 17:72121453-72121453

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.453_455delGCG; p.R152delR; 17:72122740-72122742

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.517_518insAAT; p.K173_Y174ins*; 17:72122804-72122805

large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.1436C>A; p.P479H; 17:72124293-72124293

pancreascarcinomaSubstitution - Missense

c.1436C>A; p.P479H; 17:72124293-72124293

pancreascarcinomaSubstitution - Missense

c.1436C>A; p.P479H; 17:72124293-72124293

pancreascarcinomaSubstitution - Missense

c.1436C>A; p.P479H; 17:72124293-72124293

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1436C>A; p.P479H; 17:72124293-72124293

pancreascarcinomaSubstitution - Missense

c.1279_1301del23; p.Y428fs*>75; 17:72124136-72124158

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.274C>T; p.P92S; 17:72121665-72121665

haematopoietic_and_lymphoid_tissue; soft_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1260C>T; p.Y420Y; 17:72124117-72124117

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1353C>T; p.Y451Y; 17:72124210-72124210

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1353C>T; p.Y451Y; 17:72124210-72124210

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1378A>C; p.T460P; 17:72124235-72124235

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.395A>G; p.N132S; 17:72121786-72121786

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1378A>C; p.T460P; 17:72124235-72124235

thyroidother; neoplasmSubstitution - Missense

c.1378A>C; p.T460P; 17:72124235-72124235

breastcarcinomaSubstitution - Missense

c.736C>T; p.Q246*; 17:72123593-72123593

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.229G>C; p.V77L; 17:72121620-72121620

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.F204F; 17:72122899-72122899

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.514T>C; p.Y172H; 17:72122801-72122801

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437delT; p.L146fs*37; 17:72122724-72122724

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1422_1423insC; p.M476fs*>35; 17:72124279-72124280

stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.770G>A; p.R257H; 17:72123627-72123627

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1450T>G; p.S484A; 17:72124307-72124307

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1183_1184insCG; p.H396fs*8; 17:72124040-72124041

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1096delC; p.P367fs*16; 17:72123953-72123953

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1349delC; p.Y451fs*19; 17:72124206-72124206

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1349_1350CC>TT; p.S450F; 17:72124206-72124207

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.861G>A; p.E287E; 17:72123718-72123718

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.861G>A; p.E287E; 17:72123718-72123718

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.598C>T; p.P200S; 17:72122885-72122885

skinmalignant_melanomaSubstitution - Missense

c.172C>T; p.P58S; 17:72121563-72121563

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.507C>T; p.H169H; 17:72122794-72122794

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1180C>T; p.R394*; 17:72124037-72124037

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.507C>T; p.H169H; 17:72122794-72122794

thyroidother; neoplasmSubstitution - coding silent

c.507C>T; p.H169H; 17:72122794-72122794

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.507C>T; p.H169H; 17:72122794-72122794

breastcarcinomaSubstitution - coding silent

c.507C>T; p.H169H; 17:72122794-72122794

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.344G>A; p.W115*; 17:72121735-72121735

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.761_762delGA; p.E255fs*40; 17:72123618-72123619

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1243delC; p.Q416fs*54; 17:72124100-72124100

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1243delC; p.Q416fs*54; 17:72124100-72124100

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1015C>T; p.Q339*; 17:72123872-72123872

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.352G>A; p.A118T; 17:72121743-72121743

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.A158V; 17:72122760-72122760

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1291_1292insCCTAC; p.P434fs*38; 17:72124148-72124149

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.868G>A; p.D290N; 17:72123725-72123725

skinmalignant_melanomaSubstitution - Missense

c.1267delT; p.F423fs*47; 17:72124124-72124124

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1225delG; p.E409fs*61; 17:72124082-72124082

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1418A>G; p.Q473R; 17:72124275-72124275

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.202A>G; p.K68E; 17:72121593-72121593

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.859G>A; p.E287K; 17:72123716-72123716

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.31A>G; p.T11A; 17:72121422-72121422

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.K68K; 17:72121595-72121595

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.204G>A; p.K68K; 17:72121595-72121595

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.570G>A; p.E190E; 17:72122857-72122857

skinmalignant_melanomaSubstitution - coding silent

c.204G>A; p.K68K; 17:72121595-72121595

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.993G>A; p.A331A; 17:72123850-72123850

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.871_872insTCAA; p.E293fs*4; 17:72123728-72123729

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.915_916insGT; p.P307fs*77; 17:72123772-72123773

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1199_1200insGC; p.Q401fs*3; 17:72124056-72124057

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.223G>A; p.E75K; 17:72121614-72121614

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.771delC; p.L259fs*20; 17:72123628-72123628

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.566C>T; p.A189V; 17:72122853-72122853

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771delC; p.L259fs*20; 17:72123628-72123628

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.223G>A; p.E75K; 17:72121614-72121614

breastcarcinomaSubstitution - Missense

c.223G>A; p.E75K; 17:72121614-72121614

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.807C>A; p.D269E; 17:72123664-72123664

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.192C>A; p.S64R; 17:72121583-72121583

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.250T>G; p.Y84D; 17:72121641-72121641

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.816_817insGT; p.D274fs*6; 17:72123673-72123674

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.760C>T; p.R254*; 17:72123617-72123617

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.782_783insG; p.R264fs*32; 17:72123639-72123640

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.782_783insG; p.R264fs*32; 17:72123639-72123640

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1293_1294insT; p.Y432fs*>79; 17:72124150-72124151

oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.529C>T; p.R177W; 17:72122816-72122816

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858C>T; p.I286I; 17:72123715-72123715

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1099C>A; p.P367T; 17:72123956-72123956

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.872delT; p.V291fs*92; 17:72123729-72123729

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.376C>T; p.Q126*; 17:72121767-72121767

breastcarcinomaSubstitution - Nonsense

c.72C>G; p.P24P; 17:72121463-72121463

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.258G>A; p.W86*; 17:72121649-72121649

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.579_580insGAGC; p.Q195fs*58; 17:72122866-72122867

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1090G>A; p.A364T; 17:72123947-72123947

livercarcinomaSubstitution - Missense

c.611T>A; p.F204Y; 17:72122898-72122898

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>A; p.A364T; 17:72123947-72123947

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.494A>G; p.H165R; 17:72122781-72122781

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.57C>T; p.S19S; 17:72121448-72121448

kidneyother; neoplasmSubstitution - coding silent

c.595_596insC; p.N201fs*51; 17:72122882-72122883

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.866_867insC; p.D290fs*6; 17:72123723-72123724

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.183_184insA; p.E63fs*189; 17:72121574-72121575

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.347C>T; p.A116V; 17:72121738-72121738

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1105C>T; p.Q369*; 17:72123962-72123962

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.912delG; p.V306fs*77; 17:72123769-72123769

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.912delG; p.V306fs*77; 17:72123769-72123769

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.610_611insAAG; p.F204>*; 17:72122897-72122898

large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.314T>G; p.V105G; 17:72121705-72121705

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.742_743insGC; p.K249fs*5; 17:72123599-72123600

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1241C>A; p.S414*; 17:72124098-72124098

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1452_1453insG; p.V486fs*>25; 17:72124309-72124310

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1196_1197insG; p.E400fs*>111; 17:72124053-72124054

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.524A>C; p.Q175P; 17:72122811-72122811

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.698_699insCC; p.P235fs*19; 17:72123555-72123556

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1438A>T; p.I480F; 17:72124295-72124295

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.R94H; 17:72121672-72121672

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.703C>G; p.P235A; 17:72123560-72123560

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.503A>G; p.D168G; 17:72122790-72122790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1316_1317insG; p.Y440fs*>71; 17:72124173-72124174

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1226_1228delAGC; p.Q412delQ; 17:72124083-72124085

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1523G>A; p.R508Q; 17:72124380-72124380

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1239_1241delCTC; p.H413_S414>Q; 17:72124096-72124098

large_intestine; coloncarcinoma; adenocarcinomaComplex - deletion inframe

c.1225G>T; p.E409*; 17:72124082-72124082

large_intestine; colonadenomaSubstitution - Nonsense

c.37G>A; p.E13K; 17:72121428-72121428

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.421A>G; p.K141E; 17:72121812-72121812

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.61G>A; p.A21T; 17:72121452-72121452

prostateadenomaSubstitution - Missense

c.37G>A; p.E13K; 17:72121428-72121428

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1347_1348insTCCT; p.Y451fs*>61; 17:72124204-72124205

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.436C>A; p.L146M; 17:72122723-72122723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.796delC; p.P267fs*12; 17:72123653-72123653

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1181G>C; p.R394P; 17:72124038-72124038

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.454C>T; p.R152W; 17:72122741-72122741

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.332C>T; p.A111V; 17:72121723-72121723

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.877G>A; p.E293K; 17:72123734-72123734

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.341T>C; p.V114A; 17:72121732-72121732

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.911_912insGG; p.V306fs*78; 17:72123768-72123769

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1246C>T; p.Q416*; 17:72124103-72124103

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.783delG; p.G263fs*16; 17:72123640-72123640

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1370_1371insC; p.Q458fs*>53; 17:72124227-72124228

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.764_765insGG; p.R257fs*23; 17:72123621-72123622

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.764_765insGG; p.R257fs*23; 17:72123621-72123622

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.516C>G; p.Y172*; 17:72122803-72122803

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.809_810insC; p.R271fs*25; 17:72123666-72123667

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1243_1244insGC; p.P415fs*56; 17:72124100-72124101

large_intestine; coloncarcinomaInsertion - Frameshift

c.1395C>G; p.T465T; 17:72124252-72124252

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1332C>A; p.D444E; 17:72124189-72124189

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.810C>A; p.F270L; 17:72123667-72123667

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.911_912insG; p.V306fs*>205; 17:72123768-72123769

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1442C>G; p.A481G; 17:72124299-72124299

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1449_1450delCT; p.S484fs*>26; 17:72124306-72124307

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.897G>A; p.P299P; 17:72123754-72123754

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.765_766insG; p.R257fs*39; 17:72123622-72123623

pancreascarcinomaInsertion - Frameshift

c.105C>A; p.C35*; 17:72121496-72121496

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1481G>A; p.S494N; 17:72124338-72124338

skinmalignant_melanomaSubstitution - Missense

c.1420C>T; p.R474C; 17:72124277-72124277

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1033delC; p.P346fs*37; 17:72123890-72123890

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1183A>G; p.T395A; 17:72124040-72124040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1314delA; p.Q439fs*31; 17:72124171-72124171

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.229G>T; p.V77F; 17:72121620-72121620

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.916G>T; p.V306L; 17:72123773-72123773

lungcarcinoma; adenocarcinomaSubstitution - Missense


')