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

Basic Information

Gene ID

10180

Name

RBM6

Synonymous

RNA binding motif protein 6;RBM6;RNA binding motif protein 6

Definition

RNA-binding motif protein 6|RNA-binding protein 6|RNA-binding protein DEF-3|lung cancer antigen NY-LU-12|lung cancer protooncogene 11

Position

3p21.3

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 0.13.

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.125G>C; p.R42T; 3:49967550-49967550

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3189C>T; p.G1063G; 3:50075273-50075273

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1074G>T; p.Q358H; 3:49968499-49968499

 pancreascarcinomaSubstitution - Missense

c.2372T>G; p.I791R; 3:50061480-50061480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2512C>T; p.Q838*; 3:50062034-50062034

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2357C>A; p.S786*; 3:50061465-50061465

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1087C>T; p.P363S; 3:49968512-49968512

 skinmalignant_melanomaSubstitution - Missense

c.2505C>T; p.P835P; 3:50062027-50062027

 skinmalignant_melanomaSubstitution - coding silent

c.1005G>T; p.E335D; 3:49968430-49968430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3070G>A; p.D1024N; 3:50070506-50070506

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3070G>A; p.D1024N; 3:50070506-50070506

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2996A>G; p.Y999C; 3:50068742-50068742

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1184G>T; p.G395V; 3:49968609-49968609

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.29G>A; p.R10K; 3:49962670-49962670

 pancreascarcinomaSubstitution - Missense

c.1423G>A; p.A475T; 3:49975332-49975332

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1282_1283CC>TT; p.P428>?; 3:49968707-49968708

 lungcarcinoma; adenocarcinomaComplex

c.1102G>T; p.D368Y; 3:49968527-49968527

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1954G>T; p.D652Y; 3:50057988-50057988

 ovaryother; neoplasmSubstitution - Missense

c.3014G>A; p.R1005Q; 3:50068760-50068760

 skinmalignant_melanomaSubstitution - Missense

c.784C>T; p.R262*; 3:49968209-49968209

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.784C>T; p.R262*; 3:49968209-49968209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1473G>A; p.E491E; 3:49975382-49975382

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1975A>G; p.M659V; 3:50058407-50058407

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.635G>A; p.R212H; 3:49968060-49968060

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3329C>A; p.A1110D; 3:50077090-50077090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.999A>T; p.E333D; 3:49968424-49968424

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1508T>C; p.V503A; 3:49999464-49999464

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3241G>C; p.E1081Q; 3:50075325-50075325

 breastcarcinomaSubstitution - Missense

c.2797C>G; p.P933A; 3:50066356-50066356

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.190C>T; p.P64S; 3:49967615-49967615

 skinmalignant_melanomaSubstitution - Missense

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2495delA; p.K834fs*27; 3:50062017-50062017

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1633T>C; p.C545R; 3:50054335-50054335

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3095A>G; p.K1032R; 3:50070531-50070531

 skinmalignant_melanomaSubstitution - Missense

c.2698C>G; p.P900A; 3:50066257-50066257

 livercarcinomaSubstitution - Missense

c.2698C>G; p.P900A; 3:50066257-50066257

 livercarcinomaSubstitution - Missense

c.1545G>A; p.M515I; 3:49999501-49999501

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2189G>T; p.G730V; 3:50059707-50059707

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.76T>G; p.W26G; 3:49967501-49967501

 breastcarcinomaSubstitution - Missense

c.2774_2775CC>TT; p.P925L; 3:50066333-50066334

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2584A>G; p.R862G; 3:50062106-50062106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2214C>A; p.A738A; 3:50059732-50059732

 skinmalignant_melanomaSubstitution - coding silent

c.770T>A; p.F257Y; 3:49968195-49968195

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1372A>T; p.I458F; 3:49972107-49972107

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.838T>A; p.F280I; 3:49968263-49968263

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1997C>T; p.S666F; 3:50058429-50058429

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2773C>G; p.P925A; 3:50066332-50066332

 breastcarcinomaSubstitution - Missense

c.2402A>G; p.D801G; 3:50061510-50061510

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.182C>T; p.S61L; 3:49967607-49967607

 breastcarcinomaSubstitution - Missense

c.1897G>T; p.G633W; 3:50057931-50057931

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>A; p.Q371Q; 3:49968538-49968538

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1990T>C; p.Y664H; 3:50058422-50058422

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2106C>G; p.G702G; 3:50058538-50058538

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2224C>G; p.R742G; 3:50059742-50059742

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.891G>A; p.Q297Q; 3:49968316-49968316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3089G>A; p.R1030Q; 3:50070525-50070525

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1721C>A; p.T574N; 3:50057755-50057755

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799C>A; p.Q267K; 3:49968224-49968224

 breastcarcinomaSubstitution - Missense

c.1656C>T; p.H552H; 3:50054358-50054358

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2861A>C; p.K954T; 3:50066420-50066420

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1118C>T; p.S373F; 3:49968543-49968543

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2582C>T; p.T861M; 3:50062104-50062104

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2582C>T; p.T861M; 3:50062104-50062104

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.229G>T; p.A77S; 3:49967654-49967654

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.267G>C; p.E89D; 3:49967692-49967692

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2495A>G; p.E832G; 3:50062017-50062017

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2058C>T; p.N686N; 3:50058490-50058490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2294G>T; p.R765M; 3:50061162-50061162

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1685C>A; p.P562Q; 3:50054387-50054387

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1674C>G; p.F558L; 3:50054376-50054376

 breastcarcinomaSubstitution - Missense

c.1558-1G>A; p.?; 3:50048244-50048244

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.376C>T; p.R126W; 3:49967801-49967801

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2100C>A; p.T700T; 3:50058532-50058532

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.811G>A; p.G271S; 3:49968236-49968236

 livercarcinomaSubstitution - Missense

c.242C>T; p.P81L; 3:49967667-49967667

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.811G>A; p.G271S; 3:49968236-49968236

 livercarcinomaSubstitution - Missense

c.1879C>T; p.P627S; 3:50057913-50057913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1312C>T; p.R438W; 3:49968737-49968737

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1657C>T; p.R553*; 3:50054359-50054359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.808A>G; p.R270G; 3:49968233-49968233

 thyroidcarcinomaSubstitution - Missense

c.1140A>C; p.S380S; 3:49968565-49968565

 skinmalignant_melanomaSubstitution - coding silent

c.293G>A; p.G98E; 3:49967718-49967718

 livercarcinomaSubstitution - Missense

c.3352C>A; p.R1118R; 3:50077113-50077113

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.293G>A; p.G98E; 3:49967718-49967718

 livercarcinomaSubstitution - Missense

c.425C>A; p.S142Y; 3:49967850-49967850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.531C>T; p.G177G; 3:49967956-49967956

 skinmalignant_melanomaSubstitution - coding silent

c.2626G>A; p.D876N; 3:50065070-50065070

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1828G>A; p.G610S; 3:50057862-50057862

 skin; solemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.2848A>G; p.T950A; 3:50066407-50066407

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.631T>C; p.S211P; 3:49968056-49968056

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3352C>T; p.R1118*; 3:50077113-50077113

 pancreascarcinomaSubstitution - Nonsense

c.3255C>T; p.G1085G; 3:50077016-50077016

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3117-9C>A; p.?; 3:50075192-50075192

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3334C>T; p.R1112*; 3:50077095-50077095

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3334C>T; p.R1112*; 3:50077095-50077095

 skinmalignant_melanomaSubstitution - Nonsense

c.1787G>A; p.R596K; 3:50057821-50057821

 ovaryother; neoplasmSubstitution - Missense

c.805T>A; p.F269I; 3:49968230-49968230

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2777C>T; p.P926L; 3:50066336-50066336

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1985G>A; p.R662H; 3:50058417-50058417

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1424C>T; p.A475V; 3:49975333-49975333

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.288G>T; p.R96S; 3:49967713-49967713

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3185C>G; p.T1062S; 3:50075269-50075269

 pancreascarcinomaSubstitution - Missense

c.288G>T; p.R96S; 3:49967713-49967713

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.925A>T; p.N309Y; 3:49968350-49968350

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1644C>G; p.N548K; 3:50054346-50054346

 breastcarcinomaSubstitution - Missense

c.2368T>A; p.Y790N; 3:50061476-50061476

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274G>A; p.G92R; 3:49967699-49967699

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2728G>A; p.G910R; 3:50066287-50066287

 pancreascarcinomaSubstitution - Missense

c.1022A>G; p.E341G; 3:49968447-49968447

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1198G>A; p.D400N; 3:49968623-49968623

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.302C>T; p.S101L; 3:49967727-49967727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1198G>A; p.D400N; 3:49968623-49968623

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3322C>T; p.R1108*; 3:50077083-50077083

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2766G>T; p.Q922H; 3:50066325-50066325

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1198G>T; p.D400Y; 3:49968623-49968623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.43C>T; p.R15C; 3:49962684-49962684

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.647G>A; p.R216K; 3:49968072-49968072

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2944C>T; p.Q982*; 3:50068690-50068690

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2268T>C; p.Y756Y; 3:50060995-50060995

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.785G>A; p.R262Q; 3:49968210-49968210

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.303G>A; p.S101S; 3:49967728-49967728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3178C>T; p.Q1060*; 3:50075262-50075262

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1918C>T; p.R640*; 3:50057952-50057952

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.166G>A; p.D56N; 3:49967591-49967591

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.L394F; 3:49968605-49968605

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3142G>T; p.D1048Y; 3:50075226-50075226

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.543T>C; p.Y181Y; 3:49967968-49967968

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2807G>A; p.R936Q; 3:50066366-50066366

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2036A>G; p.Y679C; 3:50058468-50058468

 ovaryother; neoplasmSubstitution - Missense

c.2036A>G; p.Y679C; 3:50058468-50058468

 breastcarcinomaSubstitution - Missense

c.186G>A; p.G62G; 3:49967611-49967611

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.186G>A; p.G62G; 3:49967611-49967611

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1892G>A; p.R631K; 3:50057926-50057926

 skinmalignant_melanomaSubstitution - Missense

c.1179T>A; p.F393L; 3:49968604-49968604

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.243G>A; p.P81P; 3:49967668-49967668

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.243G>A; p.P81P; 3:49967668-49967668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2339G>A; p.R780Q; 3:50061207-50061207

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3268C>T; p.P1090S; 3:50077029-50077029

 skinmalignant_melanomaSubstitution - Missense

c.1950delC; p.Q651fs*10; 3:50057984-50057984

 urinary_tract; bladdercarcinomaDeletion - Frameshift

c.2436C>T; p.T812T; 3:50061544-50061544

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2407T>C; p.L803L; 3:50061515-50061515

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.230C>A; p.A77D; 3:49967655-49967655

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.287delG; p.G98fs*56; 3:49967712-49967712

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1528G>C; p.D510H; 3:49999484-49999484

 breastcarcinomaSubstitution - Missense

c.287delG; p.G98fs*56; 3:49967712-49967712

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.235G>A; p.D79N; 3:49967660-49967660

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1572C>T; p.I524I; 3:50048259-50048259

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1658G>A; p.R553Q; 3:50054360-50054360

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2037T>C; p.Y679Y; 3:50058469-50058469

 livercarcinomaSubstitution - coding silent

c.2037T>C; p.Y679Y; 3:50058469-50058469

 livercarcinomaSubstitution - coding silent

c.2917C>G; p.H973D; 3:50066476-50066476

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.17G>A; p.R6Q; 3:49962658-49962658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.755C>T; p.T252M; 3:49968180-49968180

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2059G>A; p.V687I; 3:50058491-50058491

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1693+9C>T; p.?; 3:50054404-50054404

 prostatecarcinoma; adenocarcinomaUnknown

c.287_288insG; p.D99fs*6; 3:49967712-49967713

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.2209C>T; p.L737L; 3:50059727-50059727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2677C>T; p.P893S; 3:50065121-50065121

 skinmalignant_melanomaSubstitution - Missense

c.907A>T; p.R303*; 3:49968332-49968332

 pancreascarcinomaSubstitution - Nonsense

c.3121C>T; p.R1041C; 3:50075205-50075205

 skinmalignant_melanomaSubstitution - Missense

c.3147C>T; p.I1049I; 3:50075231-50075231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2357C>T; p.S786L; 3:50061465-50061465

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1948C>T; p.R650C; 3:50057982-50057982

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1948C>T; p.R650C; 3:50057982-50057982

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1948C>T; p.R650C; 3:50057982-50057982

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3241G>T; p.E1081*; 3:50075325-50075325

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1483+1G>T; p.?; 3:49975393-49975393

 skin; scalpcarcinoma; squamous_cell_carcinomaUnknown

c.2013G>A; p.V671V; 3:50058445-50058445

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2196G>A; p.M732I; 3:50059714-50059714

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2925G>A; p.Q975Q; 3:50066484-50066484

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.483C>T; p.H161H; 3:49967908-49967908

 oesophaguscarcinomaSubstitution - coding silent

c.315C>T; p.F105F; 3:49967740-49967740

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2130+2T>G; p.?; 3:50058564-50058564

 prostatecarcinomaUnknown

c.3099C>A; p.Y1033*; 3:50070535-50070535

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1008T>C; p.H336H; 3:49968433-49968433

 breastcarcinomaSubstitution - coding silent

c.2494_2495insA; p.P835fs*9; 3:50062016-50062017

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.798T>C; p.D266D; 3:49968223-49968223

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1179T>G; p.F393L; 3:49968604-49968604

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1A>T; p.M1L; 3:49962642-49962642

 breastcarcinomaSubstitution - Missense

c.2073G>A; p.K691K; 3:50058505-50058505

 ovaryother; neoplasmSubstitution - coding silent

c.2464C>T; p.P822S; 3:50061986-50061986

 skin; legmalignant_melanomaSubstitution - Missense

c.2464C>T; p.P822S; 3:50061986-50061986

 skin; legmalignant_melanomaSubstitution - Missense

c.2140C>T; p.R714C; 3:50059658-50059658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2140C>T; p.R714C; 3:50059658-50059658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1446G>A; p.M482I; 3:49975355-49975355

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3321C>T; p.Y1107Y; 3:50077082-50077082

 thyroidother; neoplasmSubstitution - coding silent

c.3321C>T; p.Y1107Y; 3:50077082-50077082

 thyroidother; neoplasmSubstitution - coding silent

c.2813A>C; p.E938A; 3:50066372-50066372

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3035G>C; p.R1012T; 3:50070471-50070471

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2629G>A; p.V877I; 3:50065073-50065073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3046C>T; p.R1016C; 3:50070482-50070482

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2047A>G; p.T683A; 3:50058479-50058479

 pancreascarcinomaSubstitution - Missense

c.656A>G; p.D219G; 3:49968081-49968081

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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