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

Basic Information

Gene ID

4436

Name

MSH2

Synonymous

mutS homolog 2;MSH2;mutS homolog 2

Definition

DNA mismatch repair protein Msh2|hMSH2|mutS homolog 2, colon cancer, nonpolyposis type 1

Position

2p21

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 0.37.

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.2251G>A; p.G751R; 2:47478312-47478312

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1228G>A; p.G410S; 2:47429893-47429893

 breastcarcinomaSubstitution - Missense

c.1530G>C; p.Q510H; 2:47466677-47466677

 breastcarcinomaSubstitution - Missense

c.1133_1135delAAG; p.E378del; 2:47429798-47429800

 endometriumcarcinoma; adenocarcinomaDeletion - In frame

c.1820_1824delGCTTT; p.F608fs*34; 2:47475085-47475089

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1488A>G; p.L496L; 2:47463132-47463132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1976A>C; p.K659T; 2:47475241-47475241

 breastcarcinomaSubstitution - Missense

c.1277-1G>A; p.?; 2:47445547-47445547

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.2006-6T>C; p.?; 2:47476361-47476361

 stomachcarcinoma; adenocarcinomaUnknown

c.2006-6T>C; p.?; 2:47476361-47476361

 breastcarcinoma; lobular_carcinomaUnknown

c.2006-6T>C; p.?; 2:47476361-47476361

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2006G>A; p.G669D; 2:47476367-47476367

 pancreascarcinomaSubstitution - Missense

c.1276_1276+9delGGTAACAAGT; p.?; 2:47429941-47429950

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1737_1738insA; p.E580fs*18; 2:47471040-47471041

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.2579C>T; p.S860L; 2:47480816-47480816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2403T>C; p.H801H; 2:47478464-47478464

 prostatecarcinomaSubstitution - coding silent

c.1238A>G; p.Q413R; 2:47429903-47429903

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.144G>A; p.E48E; 2:47403335-47403335

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1224T>G; p.Y408*; 2:47429889-47429889

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.970C>T; p.Q324*; 2:47416323-47416323

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1596C>T; p.V532V; 2:47466743-47466743

 skinmalignant_melanomaSubstitution - coding silent

c.1147C>T; p.R383*; 2:47429812-47429812

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2384C>A; p.P795Q; 2:47478445-47478445

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1681G>T; p.E561*; 2:47470984-47470984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2214T>C; p.S738S; 2:47478275-47478275

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2131C>T; p.R711*; 2:47476492-47476492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.727C>T; p.R243W; 2:47412495-47412495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2131C>T; p.R711*; 2:47476492-47476492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.664_664delA; p.I222fs*2; 2:47412432-47412432

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2246A>G; p.E749G; 2:47478307-47478307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1738G>T; p.E580*; 2:47471041-47471041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1738G>T; p.E580*; 2:47471041-47471041

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1738G>T; p.E580*; 2:47471041-47471041

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.658G>T; p.G220*; 2:47412426-47412426

 large_intestine; rightcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1738G>T; p.E580*; 2:47471041-47471041

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2497C>G; p.L833V; 2:47480734-47480734

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1550_1551delCA; p.Q518fs*10; 2:47466697-47466698

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2168C>T; p.S723F; 2:47476529-47476529

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1760G>A; p.G587D; 2:47475025-47475025

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.690T>C; p.A230A; 2:47412458-47412458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1759+2T>C; p.?; 2:47471064-47471064

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2119T>C; p.C707R; 2:47476480-47476480

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.606C>A; p.P202P; 2:47410333-47410333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>A; p.P202P; 2:47410333-47410333

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1861C>T; p.R621*; 2:47475126-47475126

 breastcarcinomaSubstitution - Nonsense

c.606C>A; p.P202P; 2:47410333-47410333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>A; p.P202P; 2:47410333-47410333

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>A; p.P202P; 2:47410333-47410333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.687delA; p.A230fs*16; 2:47412455-47412455

 small_intestine; duodenumcarcinoma; adenocarcinomaDeletion - Frameshift

c.219G>C; p.K73N; 2:47408408-47408408

 stomachadenocarcinomaSubstitution - Missense

c.1399G>A; p.E467K; 2:47463043-47463043

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1399G>A; p.E467K; 2:47463043-47463043

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2508C>T; p.F836F; 2:47480745-47480745

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1401A>G; p.E467E; 2:47463045-47463045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1807G>T; p.D603Y; 2:47475072-47475072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1661+1G>T; p.?; 2:47466809-47466809

 lungcarcinoma; adenocarcinomaUnknown

c.549G>A; p.Q183Q; 2:47410276-47410276

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1165C>T; p.R389*; 2:47429830-47429830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.574A>G; p.I192V; 2:47410301-47410301

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1237C>A; p.Q413K; 2:47429902-47429902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2101G>T; p.E701*; 2:47476462-47476462

 skinadnexal_tumour; sebaceous_carcinomaSubstitution - Nonsense

c.1234A>C; p.N412H; 2:47429899-47429899

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1509T>C; p.L503L; 2:47463153-47463153

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1066A>G; p.I356V; 2:47416419-47416419

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1216C>T; p.R406*; 2:47429881-47429881

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.595T>C; p.C199R; 2:47410322-47410322

 livercarcinomaSubstitution - Missense

c.1041G>A; p.K347K; 2:47416394-47416394

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.923G>A; p.R308K; 2:47414399-47414399

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2396A>G; p.N799S; 2:47478457-47478457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.801T>A; p.V267V; 2:47414277-47414277

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.207G>A; p.P69P; 2:47403398-47403398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1216C>A; p.R406R; 2:47429881-47429881

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2462T>C; p.V821A; 2:47480699-47480699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1216C>A; p.R406R; 2:47429881-47429881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1216C>A; p.R406R; 2:47429881-47429881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.10C>T; p.Q4*; 2:47403201-47403201

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.1216C>A; p.R406R; 2:47429881-47429881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2462T>C; p.V821A; 2:47480699-47480699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1183C>T; p.Q395*; 2:47429848-47429848

 skinmalignant_melanomaSubstitution - Nonsense

c.2172G>A; p.T724T; 2:47476533-47476533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1618A>G; p.S540G; 2:47466765-47466765

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2664G>A; p.L888L; 2:47482808-47482808

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2479G>A; p.G827R; 2:47480716-47480716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1569delT; p.R524fs*2; 2:47466716-47466716

 endometriumcarcinomaDeletion - Frameshift

c.251A>T; p.N84I; 2:47408440-47408440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1432C>T; p.L478F; 2:47463076-47463076

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2778C>T; p.I926I; 2:47482922-47482922

 skinmalignant_melanomaSubstitution - coding silent

c.1479G>A; p.Q493Q; 2:47463123-47463123

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2131C>A; p.R711R; 2:47476492-47476492

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.984C>A; p.A328A; 2:47416337-47416337

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2391_2393delTAA; p.N799delN; 2:47478452-47478454

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2465G>T; p.C822F; 2:47480702-47480702

 skinmalignant_melanomaSubstitution - Missense

c.2465G>T; p.C822F; 2:47480702-47480702

 skinmalignant_melanomaSubstitution - Missense

c.1092A>G; p.E364E; 2:47429757-47429757

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2465G>T; p.C822F; 2:47480702-47480702

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2166C>T; p.V722V; 2:47476527-47476527

 skinmalignant_melanomaSubstitution - coding silent

c.1237C>T; p.Q413*; 2:47429902-47429902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.241A>C; p.S81R; 2:47408430-47408430

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1089G>T; p.V363V; 2:47429754-47429754

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1447G>T; p.E483*; 2:47463091-47463091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.258A>T; p.E86D; 2:47408447-47408447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1052T>C; p.M351T; 2:47416405-47416405

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2464T>C; p.C822R; 2:47480701-47480701

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2061C>T; p.L687L; 2:47476422-47476422

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1426C>T; p.P476S; 2:47463070-47463070

 skinmalignant_melanomaSubstitution - Missense

c.1590A>G; p.E530E; 2:47466737-47466737

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2061C>T; p.L687L; 2:47476422-47476422

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2554G>T; p.E852*; 2:47480791-47480791

 skinadnexal_tumour; sebaceous_carcinomaSubstitution - Nonsense

c.505A>G; p.I169V; 2:47410232-47410232

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1190A>G; p.Q397R; 2:47429855-47429855

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1733T>G; p.V578G; 2:47471036-47471036

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 2:47429882-47429882

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 2:47429882-47429882

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 2:47429882-47429882

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 2:47429882-47429882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1487T>G; p.L496*; 2:47463131-47463131

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.965G>A; p.G322D; 2:47416318-47416318

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.965G>A; p.G322D; 2:47416318-47416318

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2580G>A; p.S860S; 2:47480817-47480817

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2580G>A; p.S860S; 2:47480817-47480817

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1760-2A>G; p.?; 2:47475023-47475023

 adrenal_gland; adrenal_glandadrenal_cortical_carcinomaUnknown

c.1620T>C; p.S540S; 2:47466767-47466767

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.681delA; p.A230fs*16; 2:47412449-47412449

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2272G>A; p.D758N; 2:47478333-47478333

 skinmalignant_melanomaSubstitution - Missense

c.1135G>T; p.D379Y; 2:47429800-47429800

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.934delC; p.L312fs*19; 2:47414410-47414410

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2061C>G; p.L687L; 2:47476422-47476422

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.205C>A; p.P69T; 2:47403396-47403396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1816G>T; p.V606F; 2:47475081-47475081

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1759G>C; p.G587R; 2:47471062-47471062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1933C>G; p.Q645E; 2:47475198-47475198

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2541_2541delA; p.A848fs*44; 2:47480778-47480778

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.409G>T; p.G137C; 2:47410136-47410136

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.984C>T; p.A328A; 2:47416337-47416337

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1905A>G; p.K635K; 2:47475170-47475170

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2038C>T; p.R680*; 2:47476399-47476399

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2038C>T; p.R680*; 2:47476399-47476399

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2038C>T; p.R680*; 2:47476399-47476399

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2038C>T; p.R680*; 2:47476399-47476399

 skinmalignant_melanomaSubstitution - Nonsense

c.2673G>C; p.V891V; 2:47482817-47482817

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2038C>T; p.R680*; 2:47476399-47476399

 skin; trunkmalignant_melanomaSubstitution - Nonsense

c.1649A>C; p.K550T; 2:47466796-47466796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.777A>G; p.P259P; 2:47412545-47412545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.777A>G; p.P259P; 2:47412545-47412545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1939G>T; p.E647*; 2:47475204-47475204

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.777A>G; p.P259P; 2:47412545-47412545

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2573G>C; p.G858A; 2:47480810-47480810

 breastcarcinomaSubstitution - Missense

c.2359_2360delCT; p.L787fs*11; 2:47478420-47478421

 endometriumcarcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumourDeletion - Frameshift

c.2359_2360delCT; p.L787fs*11; 2:47478420-47478421

 endometriumcarcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumourDeletion - Frameshift

c.1696A>C; p.N566H; 2:47470999-47470999

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2573G>T; p.G858V; 2:47480810-47480810

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1967A>T; p.Y656F; 2:47475232-47475232

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1069G>T; p.E357*; 2:47416422-47416422

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2245G>T; p.E749*; 2:47478306-47478306

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2027C>T; p.S676L; 2:47476388-47476388

 livercarcinomaSubstitution - Missense

c.2027C>T; p.S676L; 2:47476388-47476388

 livercarcinomaSubstitution - Missense

c.1316C>T; p.P439L; 2:47445587-47445587

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1656C>T; p.T552T; 2:47466803-47466803

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2479G>T; p.G827W; 2:47480716-47480716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2479G>T; p.G827W; 2:47480716-47480716

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.328A>C; p.K110Q; 2:47408517-47408517

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2613G>T; p.K871N; 2:47480850-47480850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2466T>C; p.C822C; 2:47480703-47480703

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2466T>C; p.C822C; 2:47480703-47480703

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1217G>T; p.R406L; 2:47429882-47429882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1627G>A; p.D543N; 2:47466774-47466774

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1217G>T; p.R406L; 2:47429882-47429882

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1400A>G; p.E467G; 2:47463044-47463044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1601delG; p.R534fs*9; 2:47466748-47466748

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2240_2241delTA; p.I747fs*2; 2:47478301-47478302

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.699C>T; p.S233S; 2:47412467-47412467

 skinmalignant_melanomaSubstitution - coding silent

c.1400A>G; p.E467G; 2:47463044-47463044

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1400A>G; p.E467G; 2:47463044-47463044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.942+3A>T; p.?; 2:47414421-47414421

 large_intestinecarcinoma; adenocarcinomaUnknown

c.2786G>A; p.R929Q; 2:47482930-47482930

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2786G>A; p.R929Q; 2:47482930-47482930

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.942+3A>T; p.?; 2:47414421-47414421

 large_intestinecarcinoma; adenocarcinomaUnknown

c.605C>A; p.P202H; 2:47410332-47410332

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2410G>A; p.A804T; 2:47478471-47478471

 skinmalignant_melanomaSubstitution - Missense

c.2258G>A; p.G753E; 2:47478319-47478319

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.509A>T; p.Q170L; 2:47410236-47410236

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.286C>T; p.R96C; 2:47408475-47408475

 oesophaguscarcinomaSubstitution - Missense

c.1753delT; p.S585fs*5; 2:47471056-47471056

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.649A>C; p.I217L; 2:47412417-47412417

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1783C>T; p.L595F; 2:47475048-47475048

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2521A>C; p.I841L; 2:47480758-47480758

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1588G>T; p.E530*; 2:47466735-47466735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.543T>C; p.N181N; 2:47410270-47410270

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2060T>C; p.L687P; 2:47476421-47476421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2060T>C; p.L687P; 2:47476421-47476421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1227G>A; p.Q409Q; 2:47429892-47429892

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.219G>T; p.K73N; 2:47408408-47408408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2750C>T; p.A917V; 2:47482894-47482894

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1817T>C; p.V606A; 2:47475082-47475082

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2250delG; p.G751fs*12; 2:47478311-47478311

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.2480G>A; p.G827E; 2:47480717-47480717

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1059G>T; p.K353N; 2:47416412-47416412

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1542T>C; p.D514D; 2:47466689-47466689

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.228G>T; p.Q76H; 2:47408417-47408417

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1807G>A; p.D603N; 2:47475072-47475072

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1759G>T; p.G587C; 2:47471062-47471062

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.366+30delT; p.?; 2:47408585-47408585

 large_intestinecarcinoma; adenocarcinomaUnknown

c.1759G>T; p.G587C; 2:47471062-47471062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2133A>G; p.R711R; 2:47476494-47476494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2461G>T; p.V821F; 2:47480698-47480698

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.249G>T; p.M83I; 2:47408438-47408438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1034G>A; p.W345*; 2:47416387-47416387

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.2486A>G; p.H829R; 2:47480723-47480723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1492A>C; p.S498R; 2:47463136-47463136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1578C>A; p.T526T; 2:47466725-47466725

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1578C>A; p.T526T; 2:47466725-47466725

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1578C>A; p.T526T; 2:47466725-47466725

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2436_2437insA; p.M813fs*11; 2:47478497-47478498

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.502T>C; p.S168P; 2:47410229-47410229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1149A>T; p.R383R; 2:47429814-47429814

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2463C>A; p.V821V; 2:47480700-47480700

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2221A>T; p.K741*; 2:47478282-47478282

 kidneyother; neoplasmSubstitution - Nonsense

c.606C>T; p.P202P; 2:47410333-47410333

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2221A>T; p.K741*; 2:47478282-47478282

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2020G>A; p.G674S; 2:47476381-47476381

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1479G>T; p.Q493H; 2:47463123-47463123

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2708A>T; p.N903I; 2:47482852-47482852

 skinmalignant_melanomaSubstitution - Missense

c.662G>T; p.G221V; 2:47412430-47412430

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2206C>A; p.L736I; 2:47476567-47476567

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1529_1530delAG; p.Q510fs*2; 2:47466676-47466677

 autonomic_ganglianeuroblastomaDeletion - Frameshift

c.2446C>T; p.Q816*; 2:47478507-47478507

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1351C>G; p.Q451E; 2:47445622-47445622

 breastcarcinomaSubstitution - Missense

c.645+1G>A; p.?; 2:47410373-47410373

 large_intestinecarcinoma; adenocarcinomaUnknown

c.942+3_942+10delAAAAAAAA; p.?; 2:47414421-47414428

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaUnknown

c.1476G>A; p.M492I; 2:47463120-47463120

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.2470C>G; p.Q824E; 2:47480707-47480707

 NSNSSubstitution - Missense

c.2601A>G; p.E867E; 2:47480838-47480838

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1009C>T; p.Q337*; 2:47416362-47416362

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.660A>G; p.G220G; 2:47412428-47412428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2215G>A; p.A739T; 2:47478276-47478276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660A>G; p.G220G; 2:47412428-47412428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.660A>G; p.G220G; 2:47412428-47412428

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1054G>C; p.D352H; 2:47416407-47416407

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2082delT; p.F694fs*16; 2:47476443-47476443

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.709A>G; p.I237V; 2:47412477-47412477

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1054G>C; p.D352H; 2:47416407-47416407

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2466T>A; p.C822*; 2:47480703-47480703

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

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