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

Basic Information

Gene ID

10154

Name

PLXNC1

Synonymous

plexin C1;PLXNC1;plexin C1

Definition

plexin (semaphorin receptor)|plexin-C1|receptor for viral semaphorin protein|receptor for virally-encoded semaphorin|virus-encoded semaphorin protein receptor

Position

12q23.3

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 0.14.

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.961C>T; p.R321C; 12:94149932-94149932

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1204-3T>A; p.?; 12:94181443-94181443

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1204-1G>T; p.?; 12:94181445-94181445

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.4192delA; p.I1400fs*21; 12:94298749-94298749

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1410T>C; p.P470P; 12:94186444-94186444

 livercarcinomaSubstitution - coding silent

c.4192delA; p.I1400fs*21; 12:94298749-94298749

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1410T>C; p.P470P; 12:94186444-94186444

 livercarcinomaSubstitution - coding silent

c.2553G>T; p.V851V; 12:94248067-94248067

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2698C>T; p.Q900*; 12:94248332-94248332

 skinmalignant_melanomaSubstitution - Nonsense

c.3382C>T; p.R1128C; 12:94260772-94260772

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1477T>A; p.L493I; 12:94209627-94209627

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3700A>G; p.K1234E; 12:94279574-94279574

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3802G>T; p.E1268*; 12:94282324-94282324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.833A>G; p.Q278R; 12:94149804-94149804

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3400G>A; p.E1134K; 12:94260790-94260790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736T>A; p.F246I; 12:94149707-94149707

 skinmalignant_melanomaSubstitution - Missense

c.2809G>A; p.E937K; 12:94251456-94251456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1210C>G; p.L404V; 12:94181452-94181452

 prostatecarcinomaSubstitution - Missense

c.1954G>T; p.G652W; 12:94227209-94227209

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1874C>T; p.S625F; 12:94226688-94226688

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1508C>T; p.A503V; 12:94209658-94209658

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733T>C; p.Y245H; 12:94149704-94149704

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4215C>T; p.V1405V; 12:94298772-94298772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1473G>T; p.E491D; 12:94209623-94209623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1473G>T; p.E491D; 12:94209623-94209623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2683A>T; p.N895Y; 12:94248317-94248317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1407C>T; p.D469D; 12:94186441-94186441

 oesophaguscarcinomaSubstitution - coding silent

c.3570_3571delGT; p.W1191fs*15; 12:94265198-94265199

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2660G>T; p.G887V; 12:94248294-94248294

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3816C>T; p.I1272I; 12:94282338-94282338

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2552T>C; p.V851A; 12:94248066-94248066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1075C>A; p.Q359K; 12:94169165-94169165

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3527T>G; p.I1176S; 12:94265155-94265155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3061T>C; p.F1021L; 12:94255270-94255270

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3714C>T; p.F1238F; 12:94279588-94279588

 skinmalignant_melanomaSubstitution - coding silent

c.533C>T; p.A178V; 12:94149504-94149504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.605A>G; p.D202G; 12:94149576-94149576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3173C>T; p.A1058V; 12:94259656-94259656

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1598A>T; p.K533M; 12:94220059-94220059

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3802G>A; p.E1268K; 12:94282324-94282324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4691A>C; p.K1564T; 12:94305269-94305269

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4125A>G; p.L1375L; 12:94298682-94298682

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1345A>T; p.R449*; 12:94186379-94186379

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3703G>T; p.E1235*; 12:94279577-94279577

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1537C>T; p.R513*; 12:94209687-94209687

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3703G>T; p.E1235*; 12:94279577-94279577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1537C>T; p.R513*; 12:94209687-94209687

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1099G>A; p.A367T; 12:94169189-94169189

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2540C>T; p.T847M; 12:94248054-94248054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099G>A; p.A367T; 12:94169189-94169189

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2540C>T; p.T847M; 12:94248054-94248054

 breastcarcinomaSubstitution - Missense

c.2540C>T; p.T847M; 12:94248054-94248054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1928G>C; p.G643A; 12:94227183-94227183

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2540C>T; p.T847M; 12:94248054-94248054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.903G>T; p.E301D; 12:94149874-94149874

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1229C>A; p.S410*; 12:94181471-94181471

 thyroidother; neoplasmSubstitution - Nonsense

c.3449G>A; p.R1150Q; 12:94260839-94260839

 skinmalignant_melanomaSubstitution - Missense

c.1464A>G; p.V488V; 12:94209614-94209614

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.762G>C; p.T254T; 12:94149733-94149733

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2482G>A; p.V828I; 12:94247996-94247996

 thyroidcarcinomaSubstitution - Missense

c.1464A>G; p.V488V; 12:94209614-94209614

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4318G>A; p.G1440S; 12:94300989-94300989

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1191C>T; p.G397G; 12:94169281-94169281

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1528C>T; p.Q510*; 12:94209678-94209678

 skin; scalpmalignant_melanomaSubstitution - Nonsense

c.1528C>T; p.Q510*; 12:94209678-94209678

 skinmalignant_melanomaSubstitution - Nonsense

c.3426C>T; p.S1142S; 12:94260816-94260816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.702C>T; p.F234F; 12:94149673-94149673

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2281C>T; p.P761S; 12:94240645-94240645

 skinmalignant_melanomaSubstitution - Missense

c.2281C>T; p.P761S; 12:94240645-94240645

 NSmalignant_melanomaSubstitution - Missense

c.2281C>T; p.P761S; 12:94240645-94240645

 NSmalignant_melanomaSubstitution - Missense

c.2281C>T; p.P761S; 12:94240645-94240645

 skinmalignant_melanomaSubstitution - Missense

c.797G>A; p.R266H; 12:94149768-94149768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1651C>A; p.Q551K; 12:94220112-94220112

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1553A>G; p.K518R; 12:94209703-94209703

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4411T>A; p.Y1471N; 12:94303780-94303780

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1408C>T; p.P470S; 12:94186442-94186442

 skinmalignant_melanomaSubstitution - Missense

c.2037C>T; p.N679N; 12:94237720-94237720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4411T>A; p.Y1471N; 12:94303780-94303780

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.4239C>T; p.S1413S; 12:94300910-94300910

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2199G>T; p.V733V; 12:94240563-94240563

 endometriumcarcinoma; serous_carcinomaSubstitution - coding silent

c.3364C>T; p.P1122S; 12:94260754-94260754

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2736C>G; p.I912M; 12:94248370-94248370

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4186G>A; p.E1396K; 12:94298743-94298743

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4079C>T; p.A1360V; 12:94298636-94298636

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3448C>T; p.R1150W; 12:94260838-94260838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2776C>T; p.R926W; 12:94248410-94248410

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1520C>T; p.P507L; 12:94209670-94209670

 skinmalignant_melanomaSubstitution - Missense

c.3510G>T; p.K1170N; 12:94265138-94265138

 livercarcinomaSubstitution - Missense

c.3510G>T; p.K1170N; 12:94265138-94265138

 livercarcinomaSubstitution - Missense

c.3702A>C; p.K1234N; 12:94279576-94279576

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1820C>T; p.A607V; 12:94226634-94226634

 pancreascarcinomaSubstitution - Missense

c.1820C>T; p.A607V; 12:94226634-94226634

 breastcarcinomaSubstitution - Missense

c.186C>T; p.G62G; 12:94149157-94149157

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1820C>T; p.A607V; 12:94226634-94226634

 pancreascarcinomaSubstitution - Missense

c.3257T>G; p.L1086R; 12:94260647-94260647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4317C>T; p.D1439D; 12:94300988-94300988

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2106C>A; p.T702T; 12:94237789-94237789

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2977C>T; p.R993C; 12:94254882-94254882

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2455C>T; p.R819C; 12:94247969-94247969

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2455C>T; p.R819C; 12:94247969-94247969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.569C>T; p.T190M; 12:94149540-94149540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2177G>A; p.S726N; 12:94240541-94240541

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2455C>T; p.R819C; 12:94247969-94247969

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1914C>G; p.V638V; 12:94227169-94227169

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2131A>G; p.S711G; 12:94240495-94240495

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2527G>A; p.D843N; 12:94248041-94248041

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4074+2T>A; p.?; 12:94297425-94297425

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.4669G>A; p.V1557I; 12:94305247-94305247

 skinmalignant_melanomaSubstitution - Missense

c.1915G>A; p.E639K; 12:94227170-94227170

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2072C>T; p.S691L; 12:94237755-94237755

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2329A>T; p.R777*; 12:94243966-94243966

 skinmalignant_melanomaSubstitution - Nonsense

c.4500G>T; p.M1500I; 12:94303869-94303869

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4538A>G; p.N1513S; 12:94303987-94303987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2409G>A; p.A803A; 12:94247923-94247923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2409G>A; p.A803A; 12:94247923-94247923

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.4148C>A; p.A1383D; 12:94298705-94298705

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2113A>T; p.K705*; 12:94237796-94237796

 skinmalignant_melanomaSubstitution - Nonsense

c.3071G>T; p.R1024I; 12:94255280-94255280

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3393C>T; p.S1131S; 12:94260783-94260783

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3042C>A; p.P1014P; 12:94255251-94255251

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3388G>T; p.E1130*; 12:94260778-94260778

 pancreascarcinomaSubstitution - Nonsense

c.4563G>C; p.L1521F; 12:94304012-94304012

 breastcarcinomaSubstitution - Missense

c.4139C>T; p.A1380V; 12:94298696-94298696

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2174C>G; p.S725*; 12:94240538-94240538

 breastcarcinomaSubstitution - Nonsense

c.3653G>A; p.R1218Q; 12:94279527-94279527

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4513A>C; p.T1505P; 12:94303882-94303882

 skinmalignant_melanomaSubstitution - Missense

c.3652C>T; p.R1218W; 12:94279526-94279526

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1025G>A; p.R342K; 12:94149996-94149996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3873_3874insTA; p.E1293fs*9; 12:94282395-94282396

 pancreascarcinoma; ductal_carcinomaInsertion - Frameshift

c.1015C>T; p.R339C; 12:94149986-94149986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3598-1G>A; p.?; 12:94279471-94279471

 skinmalignant_melanomaUnknown

c.1653G>A; p.Q551Q; 12:94220114-94220114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2256T>A; p.A752A; 12:94240620-94240620

 oesophaguscarcinomaSubstitution - coding silent

c.3633C>T; p.N1211N; 12:94279507-94279507

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1131A>T; p.T377T; 12:94169221-94169221

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3793C>T; p.R1265*; 12:94282315-94282315

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1229C>G; p.S410*; 12:94181471-94181471

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1893+10C>T; p.?; 12:94226717-94226717

 livercarcinomaUnknown

c.1903C>T; p.P635S; 12:94227158-94227158

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.920C>T; p.A307V; 12:94149891-94149891

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.773C>T; p.A258V; 12:94149744-94149744

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2994G>A; p.E998E; 12:94255203-94255203

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3675C>G; p.L1225L; 12:94279549-94279549

 breastcarcinomaSubstitution - coding silent

c.2391C>A; p.V797V; 12:94247905-94247905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1089C>T; p.V363V; 12:94169179-94169179

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1385C>T; p.S462L; 12:94186419-94186419

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1385C>T; p.S462L; 12:94186419-94186419

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.719G>A; p.W240*; 12:94149690-94149690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.822G>A; p.L274L; 12:94149793-94149793

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3142G>A; p.D1048N; 12:94259625-94259625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3142G>A; p.D1048N; 12:94259625-94259625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4103T>G; p.L1368R; 12:94298660-94298660

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1288G>A; p.V430I; 12:94181530-94181530

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3619A>C; p.K1207Q; 12:94279493-94279493

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4088C>T; p.S1363F; 12:94298645-94298645

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3740C>T; p.S1247F; 12:94279614-94279614

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2590C>T; p.Q864*; 12:94248104-94248104

 skinmalignant_melanomaSubstitution - Nonsense

c.1146C>A; p.T382T; 12:94169236-94169236

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2710A>G; p.T904A; 12:94248344-94248344

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4032C>G; p.F1344L; 12:94297381-94297381

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3354T>A; p.S1118R; 12:94260744-94260744

 thyroidother; neoplasmSubstitution - Missense

c.3493A>G; p.N1165D; 12:94265121-94265121

 pancreascarcinomaSubstitution - Missense

c.1416C>T; p.C472C; 12:94186450-94186450

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3031G>C; p.G1011R; 12:94255240-94255240

 thyroidother; neoplasmSubstitution - Missense

c.1076A>G; p.Q359R; 12:94169166-94169166

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1289T>C; p.V430A; 12:94181531-94181531

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2646C>A; p.F882L; 12:94248280-94248280

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2298C>A; p.I766I; 12:94240662-94240662

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2295G>A; p.W765*; 12:94240659-94240659

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.283delC; p.A97fs*46; 12:94149254-94149254

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1866C>T; p.C622C; 12:94226680-94226680

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1919A>C; p.K640T; 12:94227174-94227174

 livercarcinomaSubstitution - Missense

c.1919A>C; p.K640T; 12:94227174-94227174

 livercarcinomaSubstitution - Missense

c.684C>T; p.G228G; 12:94149655-94149655

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3490C>T; p.L1164L; 12:94265118-94265118

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1842G>T; p.R614S; 12:94226656-94226656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1842G>T; p.R614S; 12:94226656-94226656

 thyroidother; neoplasmSubstitution - Missense

c.646G>A; p.A216T; 12:94149617-94149617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1128G>C; p.L376L; 12:94169218-94169218

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1869C>G; p.D623E; 12:94226683-94226683

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2229T>G; p.S743S; 12:94240593-94240593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.Y253Y; 12:94149730-94149730

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.759C>T; p.Y253Y; 12:94149730-94149730

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.Y253Y; 12:94149730-94149730

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.Y253Y; 12:94149730-94149730

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.801C>G; p.I267M; 12:94149772-94149772

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.759C>T; p.Y253Y; 12:94149730-94149730

 thyroidother; neoplasmSubstitution - coding silent

c.4585G>A; p.V1529I; 12:94304034-94304034

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1351C>T; p.R451C; 12:94186385-94186385

 thyroidcarcinomaSubstitution - Missense

c.3627G>A; p.P1209P; 12:94279501-94279501

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3627G>A; p.P1209P; 12:94279501-94279501

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2048C>T; p.T683M; 12:94237731-94237731

 pancreascarcinomaSubstitution - Missense

c.3305T>C; p.L1102P; 12:94260695-94260695

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2806G>A; p.V936I; 12:94251453-94251453

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3624C>T; p.I1208I; 12:94279498-94279498

 breastcarcinomaSubstitution - coding silent

c.2642T>C; p.L881P; 12:94248276-94248276

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.669C>G; p.L223L; 12:94149640-94149640

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3217C>G; p.L1073V; 12:94259700-94259700

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2618C>T; p.S873F; 12:94248252-94248252

 skinmalignant_melanomaSubstitution - Missense

c.977C>T; p.T326M; 12:94149948-94149948

 pancreascarcinomaSubstitution - Missense

c.1656C>A; p.P552P; 12:94220117-94220117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3231G>T; p.K1077N; 12:94259714-94259714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2305G>T; p.G769C; 12:94243942-94243942

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1851C>T; p.H617H; 12:94226665-94226665

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3231G>T; p.K1077N; 12:94259714-94259714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1143C>T; p.G381G; 12:94169233-94169233

 breastcarcinomaSubstitution - coding silent

c.3200T>C; p.V1067A; 12:94259683-94259683

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2805C>T; p.Y935Y; 12:94251452-94251452

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1146C>T; p.T382T; 12:94169236-94169236

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3714C>G; p.F1238L; 12:94279588-94279588

 skinmalignant_melanomaSubstitution - Missense

c.3578T>G; p.V1193G; 12:94265206-94265206

 thyroidother; neoplasmSubstitution - Missense

c.3578T>G; p.V1193G; 12:94265206-94265206

 thyroidother; neoplasmSubstitution - Missense

c.2377G>T; p.G793*; 12:94244014-94244014

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2586A>C; p.K862N; 12:94248100-94248100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2420G>A; p.G807E; 12:94247934-94247934

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3906C>A; p.V1302V; 12:94294512-94294512

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2276T>C; p.I759T; 12:94240640-94240640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4246C>T; p.L1416F; 12:94300917-94300917

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4016G>A; p.R1339Q; 12:94297365-94297365

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.618G>A; p.A206A; 12:94149589-94149589

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1072G>A; p.D358N; 12:94169162-94169162

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1072G>A; p.D358N; 12:94169162-94169162

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.3383G>A; p.R1128H; 12:94260773-94260773

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>C; p.E356Q; 12:94169156-94169156

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1655C>T; p.P552L; 12:94220116-94220116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.33delC; p.P13fs*130; 12:94149004-94149004

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1122C>T; p.S374S; 12:94169212-94169212

 skinmalignant_melanomaSubstitution - coding silent

c.1122C>T; p.S374S; 12:94169212-94169212

 pancreascarcinomaSubstitution - coding silent

c.1734C>T; p.F578F; 12:94224259-94224259

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1122C>T; p.S374S; 12:94169212-94169212

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2455C>G; p.R819G; 12:94247969-94247969

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3142G>T; p.D1048Y; 12:94259625-94259625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3443T>A; p.F1148Y; 12:94260833-94260833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.702C>A; p.F234L; 12:94149673-94149673

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3610G>A; p.V1204I; 12:94279484-94279484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3610G>A; p.V1204I; 12:94279484-94279484

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3416A>T; p.N1139I; 12:94260806-94260806

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2982C>T; p.D994D; 12:94254887-94254887

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4398T>A; p.T1466T; 12:94303767-94303767

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1770C>T; p.T590T; 12:94224295-94224295

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.2910G>A; p.S970S; 12:94254815-94254815

 pancreascarcinomaSubstitution - coding silent

c.4141C>T; p.P1381S; 12:94298698-94298698

 skinmalignant_melanomaSubstitution - Missense

c.291G>A; p.A97A; 12:94149262-94149262

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3952G>A; p.D1318N; 12:94297206-94297206

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2954A>G; p.E985G; 12:94254859-94254859

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2575C>A; p.L859M; 12:94248089-94248089

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.980C>T; p.A327V; 12:94149951-94149951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2519A>T; p.Y840F; 12:94248033-94248033

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2659G>A; p.G887R; 12:94248293-94248293

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3517G>A; p.V1173M; 12:94265145-94265145

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2795T>G; p.L932R; 12:94251442-94251442

 pancreascarcinomaSubstitution - Missense

c.2664A>C; p.Q888H; 12:94248298-94248298

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1046C>T; p.T349M; 12:94150017-94150017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2345T>G; p.I782S; 12:94243982-94243982

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4238G>A; p.S1413N; 12:94298795-94298795

 NSmalignant_melanomaSubstitution - Missense

c.4196A>C; p.K1399T; 12:94298753-94298753

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4238G>A; p.S1413N; 12:94298795-94298795

 NSmalignant_melanomaSubstitution - Missense

c.3083C>T; p.P1028L; 12:94255292-94255292

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1513A>C; p.K505Q; 12:94209663-94209663

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1726T>C; p.F576L; 12:94224251-94224251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2179C>T; p.R727W; 12:94240543-94240543

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4678G>A; p.D1560N; 12:94305256-94305256

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4678G>A; p.D1560N; 12:94305256-94305256

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1660C>A; p.R554R; 12:94220121-94220121

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.994A>T; p.R332*; 12:94149965-94149965

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1803C>T; p.C601C; 12:94226617-94226617

 pancreascarcinomaSubstitution - coding silent

c.2458A>G; p.T820A; 12:94247972-94247972

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1287C>T; p.L429L; 12:94181529-94181529

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1886G>T; p.R629I; 12:94226700-94226700

 breastcarcinomaSubstitution - Missense

c.2178C>A; p.S726R; 12:94240542-94240542

 pancreascarcinomaSubstitution - Missense

c.3919G>T; p.A1307S; 12:94294525-94294525

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1287C>T; p.L429L; 12:94181529-94181529

 skinmalignant_melanomaSubstitution - coding silent

c.2458A>G; p.T820A; 12:94247972-94247972

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1214G>T; p.G405V; 12:94181456-94181456

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1947G>A; p.E649E; 12:94227202-94227202

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1109C>A; p.T370N; 12:94169199-94169199

 skinmalignant_melanomaSubstitution - Missense

c.3731A>G; p.K1244R; 12:94279605-94279605

 skinmalignant_melanomaSubstitution - Missense

c.2065C>T; p.R689W; 12:94237748-94237748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4227G>A; p.W1409*; 12:94298784-94298784

 breastcarcinomaSubstitution - Nonsense

c.1499C>T; p.S500L; 12:94209649-94209649

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500L; 12:94209649-94209649

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1904C>T; p.P635L; 12:94227159-94227159

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500L; 12:94209649-94209649

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500L; 12:94209649-94209649

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2909C>T; p.S970L; 12:94254814-94254814

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

')