Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1500

Name

CTNND1

Synonymous

catenin (cadherin-associated protein), delta 1;CTNND1;catenin (cadherin-associated protein), delta 1

Definition

cadherin-associated Src substrate|catenin delta-1|p120 catenin

Position

11q11

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.16.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1829A>C; p.N610T; 11:57805988-57805988

 thyroidcarcinomaSubstitution - Missense

c.791G>A; p.R264Q; 11:57796827-57796827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1640_1641insACTT; p.R549fs*5; 11:57804698-57804699

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.731G>A; p.S244N; 11:57796767-57796767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.488T>G; p.L163W; 11:57796524-57796524

 skinmalignant_melanomaSubstitution - Missense

c.823T>C; p.F275L; 11:57796859-57796859

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.440C>G; p.T147S; 11:57796476-57796476

 breastcarcinomaSubstitution - Missense

c.1391G>A; p.R464H; 11:57802167-57802167

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1056C>T; p.S352S; 11:57801832-57801832

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.758G>T; p.R253I; 11:57796794-57796794

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.758G>T; p.R253I; 11:57796794-57796794

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.23C>T; p.S8L; 11:57791501-57791501

 livercarcinomaSubstitution - Missense

c.23C>T; p.S8L; 11:57791501-57791501

 livercarcinomaSubstitution - Missense

c.738A>G; p.E246E; 11:57796774-57796774

 thyroidother; neoplasmSubstitution - coding silent

c.1241T>C; p.V414A; 11:57802017-57802017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2501delA; p.E836fs*10; 11:57810192-57810192

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.892A>G; p.M298V; 11:57796928-57796928

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1921C>T; p.P641S; 11:57806959-57806959

 skinmalignant_melanomaSubstitution - Missense

c.1641A>C; p.K547N; 11:57804699-57804699

 livercarcinomaSubstitution - Missense

c.1641A>C; p.K547N; 11:57804699-57804699

 livercarcinomaSubstitution - Missense

c.745C>T; p.R249W; 11:57796781-57796781

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.147A>C; p.Q49H; 11:57791625-57791625

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2006G>A; p.S669N; 11:57808225-57808225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.255C>T; p.L85L; 11:57794069-57794069

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.255C>T; p.L85L; 11:57794069-57794069

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.2795A>T; p.Q932L; 11:57815982-57815982

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.574C>T; p.P192S; 11:57796610-57796610

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2225-8C>G; p.?; 11:57809266-57809266

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1431G>A; p.W477*; 11:57803631-57803631

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.817C>T; p.H273Y; 11:57796853-57796853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706C>T; p.R236C; 11:57796742-57796742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1174C>T; p.H392Y; 11:57801950-57801950

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.185G>A; p.R62H; 11:57791663-57791663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2074-1G>A; p.?; 11:57808389-57808389

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1746T>A; p.L582L; 11:57805905-57805905

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1281A>G; p.G427G; 11:57802057-57802057

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1991C>A; p.S664*; 11:57808210-57808210

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1772A>G; p.H591R; 11:57805931-57805931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1415T>G; p.I472S; 11:57802191-57802191

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2140A>G; p.T714A; 11:57808456-57808456

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1372C>T; p.R458*; 11:57802148-57802148

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.612G>A; p.R204R; 11:57796648-57796648

 skinmalignant_melanomaSubstitution - coding silent

c.1372C>T; p.R458*; 11:57802148-57802148

 pancreascarcinomaSubstitution - Nonsense

c.950G>A; p.R317H; 11:57796986-57796986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1914G>T; p.V638V; 11:57806952-57806952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1498G>T; p.E500*; 11:57803698-57803698

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1146C>G; p.V382V; 11:57801922-57801922

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1723-1G>A; p.?; 11:57805881-57805881

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1652G>A; p.C551Y; 11:57804710-57804710

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2596_2597insT; p.I867fs*2; 11:57811462-57811463

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Insertion - Frameshift

c.420G>A; p.T140T; 11:57795729-57795729

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1775G>A; p.R592Q; 11:57805934-57805934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1605-4T>G; p.?; 11:57804659-57804659

 livercarcinomaUnknown

c.403C>T; p.R135W; 11:57795712-57795712

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1117G>A; p.A373T; 11:57801893-57801893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1135T>G; p.L379V; 11:57801911-57801911

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2026G>A; p.E676K; 11:57808245-57808245

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2102G>C; p.R701P; 11:57808418-57808418

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2253G>T; p.K751N; 11:57809302-57809302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2335G>C; p.V779L; 11:57809384-57809384

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.104G>A; p.R35H; 11:57791582-57791582

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.975T>G; p.I325M; 11:57801751-57801751

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1330A>T; p.K444*; 11:57802106-57802106

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.441_442delTG; p.V148fs*24; 11:57796477-57796478

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2506G>A; p.E836K; 11:57810197-57810197

 skinmalignant_melanomaSubstitution - Missense

c.1920_1921CC>TT; p.P641S; 11:57806958-57806959

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1285T>C; p.C429R; 11:57802061-57802061

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.203G>A; p.R68Q; 11:57794017-57794017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.166G>T; p.A56S; 11:57791644-57791644

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.2490G>A; p.R830R; 11:57810181-57810181

 breastcarcinomaSubstitution - coding silent

c.2532+2T>A; p.?; 11:57810225-57810225

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.707G>A; p.R236H; 11:57796743-57796743

 pancreascarcinomaSubstitution - Missense

c.1423A>C; p.T475P; 11:57803623-57803623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2368C>A; p.L790I; 11:57809417-57809417

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2305delG; p.V769fs*5; 11:57809354-57809354

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.117G>A; p.A39A; 11:57791595-57791595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1963C>T; p.Q655*; 11:57808182-57808182

 breastcarcinomaSubstitution - Nonsense

c.2085C>T; p.Y695Y; 11:57808401-57808401

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2065C>T; p.R689C; 11:57808284-57808284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.D301N; 11:57796937-57796937

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1163C>T; p.A388V; 11:57801939-57801939

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.302G>C; p.R101T; 11:57795611-57795611

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2073+2T>C; p.?; 11:57808294-57808294

 pancreascarcinomaUnknown

c.2734G>A; p.E912K; 11:57815921-57815921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2588_2589delCT; p.L864fs*4; 11:57811454-57811455

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1609G>T; p.V537L; 11:57804667-57804667

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1609G>T; p.V537L; 11:57804667-57804667

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2150_2153delATGA; p.E718fs*3; 11:57808466-57808469

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.286T>G; p.Y96D; 11:57795595-57795595

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2342C>T; p.A781V; 11:57809391-57809391

 ovaryother; neoplasmSubstitution - Missense

c.593G>A; p.G198D; 11:57796629-57796629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2215G>T; p.E739*; 11:57808531-57808531

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2142T>C; p.T714T; 11:57808458-57808458

 skinmalignant_melanomaSubstitution - coding silent

c.2215G>T; p.E739*; 11:57808531-57808531

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1154A>G; p.N385S; 11:57801930-57801930

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2215G>T; p.E739*; 11:57808531-57808531

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2215G>T; p.E739*; 11:57808531-57808531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1525G>A; p.E509K; 11:57803725-57803725

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1459A>G; p.M487V; 11:57803659-57803659

 livercarcinomaSubstitution - Missense

c.1525G>A; p.E509K; 11:57803725-57803725

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1197G>T; p.K399N; 11:57801973-57801973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.258C>T; p.N86N; 11:57794072-57794072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2369T>G; p.L790R; 11:57809418-57809418

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.469G>A; p.A157T; 11:57796505-57796505

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.778C>T; p.Q260*; 11:57796814-57796814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.114G>A; p.S38S; 11:57791592-57791592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1195A>C; p.K399Q; 11:57801971-57801971

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1764T>A; p.Y588*; 11:57805923-57805923

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.790C>T; p.R264W; 11:57796826-57796826

 breastcarcinomaSubstitution - Missense

c.2120C>T; p.S707F; 11:57808436-57808436

 skinmalignant_melanomaSubstitution - Missense

c.558C>T; p.G186G; 11:57796594-57796594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1605-3C>T; p.?; 11:57804660-57804660

 urinary_tract; bladdercarcinomaUnknown

c.921G>T; p.R307R; 11:57796957-57796957

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1645C>T; p.R549W; 11:57804703-57804703

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1030C>T; p.R344*; 11:57801806-57801806

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1030C>T; p.R344*; 11:57801806-57801806

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1945G>T; p.G649C; 11:57806983-57806983

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.997C>T; p.Q333*; 11:57801773-57801773

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1466T>G; p.I489S; 11:57803666-57803666

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1886C>T; p.P629L; 11:57806924-57806924

 pancreascarcinomaSubstitution - Missense

c.87G>A; p.A29A; 11:57791565-57791565

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1341delA; p.N449fs*49; 11:57802117-57802117

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1421-8T>C; p.?; 11:57803613-57803613

 urinary_tract; bladdercarcinomaUnknown

c.1341delA; p.N449fs*49; 11:57802117-57802117

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.234G>T; p.Q78H; 11:57794048-57794048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.155A>G; p.N52S; 11:57791633-57791633

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.213C>T; p.G71G; 11:57794027-57794027

 livercarcinomaSubstitution - coding silent

c.1381C>T; p.R461*; 11:57802157-57802157

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1381C>T; p.R461*; 11:57802157-57802157

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.2207G>T; p.R736L; 11:57808523-57808523

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1765C>G; p.Q589E; 11:57805924-57805924

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1331A>C; p.K444T; 11:57802107-57802107

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1082C>A; p.P361H; 11:57801858-57801858

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1331A>C; p.K444T; 11:57802107-57802107

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1451C>G; p.S484*; 11:57803651-57803651

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2326A>G; p.I776V; 11:57809375-57809375

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2326A>G; p.I776V; 11:57809375-57809375

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1221C>G; p.L407L; 11:57801997-57801997

 breastcarcinomaSubstitution - coding silent

c.1061G>A; p.R354H; 11:57801837-57801837

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1061G>A; p.R354H; 11:57801837-57801837

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1224G>T; p.K408N; 11:57802000-57802000

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1979G>A; p.R660Q; 11:57808198-57808198

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1626T>A; p.S542R; 11:57804684-57804684

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1468G>A; p.V490M; 11:57803668-57803668

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.644G>A; p.R215H; 11:57796680-57796680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>A; p.L468I; 11:57802178-57802178

 skinmalignant_melanomaSubstitution - Missense

c.2506G>T; p.E836*; 11:57810197-57810197

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.821G>A; p.R274H; 11:57796857-57796857

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2102G>A; p.R701H; 11:57808418-57808418

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.267+1G>A; p.?; 11:57794082-57794082

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1328A>G; p.N443S; 11:57802104-57802104

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.308A>G; p.Q103R; 11:57795617-57795617

 livercarcinomaSubstitution - Missense

c.1342A>C; p.K448Q; 11:57802118-57802118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1207G>A; p.D403N; 11:57801983-57801983

 breastcarcinomaSubstitution - Missense

c.2654A>G; p.D885G; 11:57815427-57815427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1643T>G; p.L548R; 11:57804701-57804701

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.315delG; p.Q107fs*17; 11:57795624-57795624

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.752C>A; p.P251H; 11:57796788-57796788

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.435G>A; p.V145V; 11:57796471-57796471

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1396A>G; p.M466V; 11:57802172-57802172

 livercarcinomaSubstitution - Missense

c.1879delA; p.K628fs*3; 11:57806917-57806917

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1387G>A; p.A463T; 11:57802163-57802163

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1190A>G; p.N397S; 11:57801966-57801966

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2321A>T; p.N774I; 11:57809370-57809370

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2473G>A; p.G825R; 11:57810164-57810164

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1081C>A; p.P361T; 11:57801857-57801857

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1081C>A; p.P361T; 11:57801857-57801857

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.541G>T; p.D181Y; 11:57796577-57796577

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.947G>T; p.R316L; 11:57796983-57796983

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1382G>A; p.R461Q; 11:57802158-57802158

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1382G>A; p.R461Q; 11:57802158-57802158

 breastcarcinomaSubstitution - Missense

c.2690G>A; p.G897D; 11:57815463-57815463

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.452G>A; p.R151Q; 11:57796488-57796488

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2706G>A; p.L902L; 11:57815479-57815479

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.868G>T; p.G290C; 11:57796904-57796904

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2423G>A; p.R808H; 11:57810114-57810114

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2378_2379insA; p.Q794fs*4; 11:57809427-57809428

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1878_1879insA; p.P629fs*14; 11:57806916-57806917

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1878_1879insA; p.P629fs*14; 11:57806916-57806917

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1521T>G; p.G507G; 11:57803721-57803721

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1782delC; p.P595fs*36; 11:57805941-57805941

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.895A>T; p.M299L; 11:57796931-57796931

 livercarcinomaSubstitution - Missense

c.1788G>T; p.Q596H; 11:57805947-57805947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.257A>G; p.N86S; 11:57794071-57794071

 pancreascarcinomaSubstitution - Missense

c.1241T>G; p.V414G; 11:57802017-57802017

 breastcarcinomaSubstitution - Missense

c.2616A>G; p.K872K; 11:57811482-57811482

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2749C>T; p.L917L; 11:57815936-57815936

 skinmalignant_melanomaSubstitution - coding silent

c.1994T>G; p.L665R; 11:57808213-57808213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298C>A; p.P100T; 11:57795607-57795607

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1477G>A; p.A493T; 11:57803677-57803677

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.410_411ins11; p.E138fs*11; 11:57795719-57795720

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.2692G>A; p.D898N; 11:57815465-57815465

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2440C>T; p.R814*; 11:57810131-57810131

 skinmalignant_melanomaSubstitution - Nonsense

c.2554C>T; p.R852*; 11:57811420-57811420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2440C>T; p.R814*; 11:57810131-57810131

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2440C>T; p.R814*; 11:57810131-57810131

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2440C>T; p.R814*; 11:57810131-57810131

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2440C>T; p.R814*; 11:57810131-57810131

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2440C>T; p.R814*; 11:57810131-57810131

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2692G>A; p.D898N; 11:57815465-57815465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2440C>T; p.R814*; 11:57810131-57810131

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2341G>A; p.A781T; 11:57809390-57809390

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.957-2A>G; p.?; 11:57801731-57801731

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2341G>A; p.A781T; 11:57809390-57809390

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2030C>A; p.A677D; 11:57808249-57808249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1556G>A; p.R519H; 11:57803756-57803756

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.483C>T; p.D161D; 11:57796519-57796519

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1773C>T; p.H591H; 11:57805932-57805932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1773C>T; p.H591H; 11:57805932-57805932

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2691C>T; p.G897G; 11:57815464-57815464

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1133G>T; p.R378L; 11:57801909-57801909

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2434G>T; p.E812*; 11:57810125-57810125

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1953G>T; p.E651D; 11:57808172-57808172

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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