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

Basic Information

Gene ID

9462

Name

RASAL2

Synonymous

RAS protein activator like 2;RASAL2;RAS protein activator like 2

Definition

RAS protein activator-like 2|Ras protein activator like 1|ras GTPase-activating protein nGAP

Position

1q24

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 0.17.

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.954C>A; p.F318L; 1:178442755-178442755

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2685C>T; p.P895P; 1:178458010-178458010

skinmalignant_melanomaSubstitution - coding silent

c.2147A>T; p.Q716L; 1:178454638-178454638

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1843G>A; p.A615T; 1:178452540-178452540

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1249A>G; p.K417E; 1:178443050-178443050

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.3044C>T; p.P1015L; 1:178458369-178458369

skinmalignant_melanomaSubstitution - Missense

c.1527G>T; p.E509D; 1:178445616-178445616

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3637G>A; p.D1213N; 1:178467413-178467413

skinmalignant_melanomaSubstitution - Missense

c.1055C>T; p.P352L; 1:178442856-178442856

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1578G>C; p.E526D; 1:178451575-178451575

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2856G>A; p.K952K; 1:178458181-178458181

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2627T>C; p.I876T; 1:178457952-178457952

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1555T>A; p.Y519N; 1:178445644-178445644

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2434C>G; p.Q812E; 1:178457759-178457759

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1659T>C; p.H553H; 1:178451656-178451656

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.22G>A; p.D8N; 1:178094568-178094568

urinary_tract; bladdercarcinomaSubstitution - Missense

c.358G>T; p.E120*; 1:178300073-178300073

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.957C>T; p.C319C; 1:178442758-178442758

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.957C>T; p.C319C; 1:178442758-178442758

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3245C>T; p.T1082I; 1:178464303-178464303

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.936C>T; p.A312A; 1:178442737-178442737

skinmalignant_melanomaSubstitution - coding silent

c.1907C>T; p.T636I; 1:178452604-178452604

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1907C>T; p.T636I; 1:178452604-178452604

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>A; p.G407R; 1:178443020-178443020

skinmalignant_melanomaSubstitution - Missense

c.604C>T; p.R202C; 1:178420604-178420604

skinmalignant_melanomaSubstitution - Missense

c.3771C>T; p.S1257S; 1:178473200-178473200

skinmalignant_melanomaSubstitution - coding silent

c.1030G>A; p.E344K; 1:178442831-178442831

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2637G>A; p.L879L; 1:178457962-178457962

livercarcinomaSubstitution - coding silent

c.2169C>A; p.S723S; 1:178456711-178456711

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.601C>T; p.L201F; 1:178420601-178420601

skinmalignant_melanomaSubstitution - Missense

c.1718+1G>A; p.?; 1:178451716-178451716

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1030G>A; p.E344K; 1:178442831-178442831

skinmalignant_melanomaSubstitution - Missense

c.954C>G; p.F318L; 1:178442755-178442755

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1305A>C; p.A435A; 1:178443106-178443106

bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1527G>C; p.E509D; 1:178445616-178445616

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1758G>A; p.W586*; 1:178452455-178452455

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1297G>T; p.E433*; 1:178443098-178443098

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2766T>C; p.I922I; 1:178458091-178458091

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2803G>A; p.E935K; 1:178458128-178458128

breastcarcinomaSubstitution - Missense

c.1793T>G; p.I598S; 1:178452490-178452490

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.850C>T; p.R284C; 1:178441624-178441624

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.280C>T; p.P94S; 1:178299995-178299995

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1070T>G; p.I357S; 1:178442871-178442871

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1370A>G; p.N457S; 1:178443171-178443171

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2123C>T; p.S708F; 1:178454614-178454614

skinmalignant_melanomaSubstitution - Missense

c.2705A>G; p.Q902R; 1:178458030-178458030

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3083G>T; p.G1028V; 1:178458408-178458408

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.923delC; p.K309fs*69; 1:178442724-178442724

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1789G>A; p.D597N; 1:178452486-178452486

skinmalignant_melanomaSubstitution - Missense

c.2168C>T; p.S723F; 1:178456710-178456710

skinmalignant_melanomaSubstitution - Missense

c.516C>A; p.F172L; 1:178420516-178420516

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2503C>T; p.R835W; 1:178457828-178457828

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.904C>T; p.R302C; 1:178442705-178442705

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1729C>T; p.R577C; 1:178452426-178452426

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2989C>T; p.Q997*; 1:178458314-178458314

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.904C>T; p.R302C; 1:178442705-178442705

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3146G>A; p.R1049Q; 1:178458471-178458471

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.904C>T; p.R302C; 1:178442705-178442705

skinmalignant_melanomaSubstitution - Missense

c.1044C>T; p.F348F; 1:178442845-178442845

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3001C>A; p.R1001R; 1:178458326-178458326

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3086G>A; p.S1029N; 1:178458411-178458411

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.333G>A; p.L111L; 1:178300048-178300048

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2080G>C; p.D694H; 1:178454571-178454571

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3236A>T; p.D1079V; 1:178464294-178464294

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.333G>A; p.L111L; 1:178300048-178300048

thyroidcarcinomaSubstitution - coding silent

c.1813G>A; p.A605T; 1:178452510-178452510

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1855C>T; p.P619S; 1:178452552-178452552

skinmalignant_melanomaSubstitution - Missense

c.1097delA; p.K368fs*10; 1:178442898-178442898

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1097delA; p.K368fs*10; 1:178442898-178442898

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1097delA; p.K368fs*10; 1:178442898-178442898

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1104_1105insA; p.D372fs*4; 1:178442905-178442906

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1111_1112insA; p.D372fs*4; 1:178442912-178442913

livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.454A>T; p.T152S; 1:178390150-178390150

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1104_1105insA; p.D372fs*4; 1:178442905-178442906

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.473C>T; p.S158F; 1:178390169-178390169

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3529G>T; p.D1177Y; 1:178466094-178466094

breastcarcinomaSubstitution - Missense

c.595_596CC>TT; p.P199L; 1:178420595-178420596

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1349A>T; p.E450V; 1:178443150-178443150

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1707C>G; p.I569M; 1:178451704-178451704

lungcarcinoid-endocrine_tumour; atypicalSubstitution - Missense

c.1895G>A; p.R632H; 1:178452592-178452592

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>G; p.F527C; 1:178451577-178451577

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3655A>G; p.I1219V; 1:178473084-178473084

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384A>G; p.P128P; 1:178300099-178300099

livercarcinomaSubstitution - coding silent

c.384A>G; p.P128P; 1:178300099-178300099

livercarcinomaSubstitution - coding silent

c.1825C>T; p.L609F; 1:178452522-178452522

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1699A>T; p.K567*; 1:178451696-178451696

breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1650G>C; p.L550L; 1:178451647-178451647

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.912G>A; p.W304*; 1:178442713-178442713

pancreascarcinomaSubstitution - Nonsense

c.912G>A; p.W304*; 1:178442713-178442713

pancreascarcinoid-endocrine_tumourSubstitution - Nonsense

c.3065C>T; p.A1022V; 1:178458390-178458390

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2207C>A; p.P736H; 1:178456749-178456749

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2468delA; p.K824fs*40; 1:178457793-178457793

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.958G>A; p.E320K; 1:178442759-178442759

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.886C>T; p.R296*; 1:178442687-178442687

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2927G>A; p.R976K; 1:178458252-178458252

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2729C>T; p.S910L; 1:178458054-178458054

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1827C>T; p.L609L; 1:178452524-178452524

skinmalignant_melanomaSubstitution - coding silent

c.3787G>T; p.E1263*; 1:178473216-178473216

prostateadenomaSubstitution - Nonsense

c.2144C>T; p.S715F; 1:178454635-178454635

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1625C>T; p.P542L; 1:178451622-178451622

skinmalignant_melanomaSubstitution - Missense

c.274G>A; p.E92K; 1:178283689-178283689

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1625C>T; p.P542L; 1:178451622-178451622

skinmalignant_melanomaSubstitution - Missense

c.2291C>T; p.S764F; 1:178456833-178456833

skinmalignant_melanomaSubstitution - Missense

c.3034G>C; p.A1012P; 1:178458359-178458359

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.827G>C; p.R276T; 1:178441601-178441601

breastcarcinomaSubstitution - Missense

c.358G>A; p.E120K; 1:178300073-178300073

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3776C>T; p.T1259M; 1:178473205-178473205

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1105delA; p.K371fs*7; 1:178442906-178442906

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1105delA; p.K371fs*7; 1:178442906-178442906

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1105delA; p.K371fs*7; 1:178442906-178442906

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1105delA; p.K371fs*7; 1:178442906-178442906

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1105delA; p.K371fs*7; 1:178442906-178442906

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2206C>T; p.P736S; 1:178456748-178456748

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2206C>T; p.P736S; 1:178456748-178456748

skinmalignant_melanomaSubstitution - Missense

c.2970A>G; p.P990P; 1:178458295-178458295

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2158-1G>T; p.?; 1:178456699-178456699

lungcarcinoma; adenocarcinomaUnknown

c.417A>G; p.E139E; 1:178390113-178390113

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.417A>G; p.E139E; 1:178390113-178390113

pancreascarcinomaSubstitution - coding silent

c.1576G>A; p.E526K; 1:178451573-178451573

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2212G>T; p.V738F; 1:178456754-178456754

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1166G>T; p.G389V; 1:178442967-178442967

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.238_239AC>TT; p.T80L; 1:178283653-178283654

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.549G>T; p.R183S; 1:178420549-178420549

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.307A>G; p.T103A; 1:178300022-178300022

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.220C>T; p.R74W; 1:178283635-178283635

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.374A>C; p.E125A; 1:178300089-178300089

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3495C>T; p.S1165S; 1:178466060-178466060

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1105_1106insA; p.D372fs*4; 1:178442906-178442907

livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.2753T>C; p.L918P; 1:178458078-178458078

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2158-8C>A; p.?; 1:178456692-178456692

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.3726G>T; p.M1242I; 1:178473155-178473155

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.172C>T; p.R58C; 1:178283587-178283587

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3726G>T; p.M1242I; 1:178473155-178473155

stomachadenocarcinomaSubstitution - Missense

c.625C>T; p.R209C; 1:178439426-178439426

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.3593A>G; p.H1198R; 1:178467369-178467369

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1939C>A; p.L647M; 1:178452636-178452636

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.573C>T; p.D191D; 1:178420573-178420573

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3382G>A; p.E1128K; 1:178465947-178465947

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3188T>G; p.V1063G; 1:178458513-178458513

pancreascarcinomaSubstitution - Missense

c.230G>A; p.C77Y; 1:178283645-178283645

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3272C>T; p.A1091V; 1:178464330-178464330

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1112_1113insA; p.D372fs*4; 1:178442913-178442914

livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.875A>G; p.D292G; 1:178442676-178442676

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.875A>G; p.D292G; 1:178442676-178442676

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.790G>A; p.G264R; 1:178441564-178441564

skinmalignant_melanomaSubstitution - Missense

c.1942G>T; p.A648S; 1:178452639-178452639

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1741G>T; p.E581*; 1:178452438-178452438

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1526A>G; p.E509G; 1:178445615-178445615

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1526A>G; p.E509G; 1:178445615-178445615

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.H360Y; 1:178442879-178442879

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.135G>T; p.W45C; 1:178094681-178094681

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2318C>T; p.S773F; 1:178456860-178456860

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1904G>A; p.R635Q; 1:178452601-178452601

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2221G>T; p.D741Y; 1:178456763-178456763

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.784T>C; p.L262L; 1:178441558-178441558

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.626G>A; p.R209H; 1:178439427-178439427

breastcarcinomaSubstitution - Missense

c.3715C>T; p.R1239W; 1:178473144-178473144

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.549G>A; p.R183R; 1:178420549-178420549

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1480G>A; p.D494N; 1:178445569-178445569

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.868A>G; p.N290D; 1:178441642-178441642

ovaryother; neoplasmSubstitution - Missense

c.2678G>A; p.R893K; 1:178458003-178458003

skinmalignant_melanomaSubstitution - Missense

c.1937A>C; p.N646T; 1:178452634-178452634

breastcarcinomaSubstitution - Missense

c.1615G>T; p.E539*; 1:178451612-178451612

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.940_941insA; p.K316fs*9; 1:178442741-178442742

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1995delT; p.L667fs*1; 1:178454486-178454486

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.136G>A; p.V46I; 1:178094682-178094682

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160C>T; p.P54S; 1:178283575-178283575

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.831C>G; p.D277E; 1:178441605-178441605

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3155C>T; p.S1052F; 1:178458480-178458480

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1193C>T; p.P398L; 1:178442994-178442994

skinmalignant_melanomaSubstitution - Missense

c.374A>G; p.E125G; 1:178300089-178300089

livercarcinomaSubstitution - Missense

c.1193C>T; p.P398L; 1:178442994-178442994

skinmalignant_melanomaSubstitution - Missense

c.374A>G; p.E125G; 1:178300089-178300089

livercarcinomaSubstitution - Missense

c.2949A>G; p.R983R; 1:178458274-178458274

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.213G>C; p.T71T; 1:178283628-178283628

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.599C>T; p.S200F; 1:178420599-178420599

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3002G>A; p.R1001Q; 1:178458327-178458327

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1573+2T>C; p.?; 1:178445664-178445664

stomachcarcinoma; adenocarcinomaUnknown

c.1465C>T; p.R489C; 1:178445554-178445554

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2828G>A; p.R943K; 1:178458153-178458153

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.545A>T; p.K182M; 1:178420545-178420545

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.173G>A; p.R58H; 1:178283588-178283588

autonomic_ganglianeuroblastomaSubstitution - Missense

c.3399C>A; p.S1133S; 1:178465964-178465964

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2389_2397delGACAACACA; p.N798_D800delNTD; 1:178457714-178457722

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2389G>T; p.D797Y; 1:178457714-178457714

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3280C>G; p.L1094V; 1:178464338-178464338

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2632C>T; p.Q878*; 1:178457957-178457957

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.706G>C; p.G236R; 1:178439507-178439507

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.459A>C; p.S153S; 1:178390155-178390155

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.535G>T; p.G179C; 1:178420535-178420535

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3082G>A; p.G1028R; 1:178458407-178458407

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2102G>A; p.R701Q; 1:178454593-178454593

bone; scapulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3252C>T; p.S1084S; 1:178464310-178464310

skinmalignant_melanomaSubstitution - coding silent

c.3260A>G; p.E1087G; 1:178464318-178464318

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3082G>A; p.G1028R; 1:178458407-178458407

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.919G>T; p.E307*; 1:178442720-178442720

livercarcinomaSubstitution - Nonsense

c.919G>T; p.E307*; 1:178442720-178442720

livercarcinomaSubstitution - Nonsense

c.1909C>G; p.L637V; 1:178452606-178452606

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2955A>G; p.I985M; 1:178458280-178458280

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2472_2473GG>TA; p.K824_D825>NN; 1:178457797-178457798

skin; head_neckcarcinoma; squamous_cell_carcinomaComplex - compound substitution

c.3681C>T; p.T1227T; 1:178473110-178473110

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2249C>T; p.T750M; 1:178456791-178456791

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1606G>A; p.E536K; 1:178451603-178451603

ovaryother; neoplasmSubstitution - Missense

c.1525G>A; p.E509K; 1:178445614-178445614

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1589C>T; p.A530V; 1:178451586-178451586

skinmalignant_melanomaSubstitution - Missense

c.1589C>T; p.A530V; 1:178451586-178451586

skinmalignant_melanomaSubstitution - Missense

c.1520C>T; p.S507F; 1:178445609-178445609

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1472G>T; p.G491V; 1:178445561-178445561

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.305A>G; p.Q102R; 1:178300020-178300020

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2361T>G; p.D787E; 1:178457686-178457686

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1430A>G; p.D477G; 1:178445519-178445519

large_intestine; colonNSSubstitution - Missense

c.2697C>A; p.A899A; 1:178458022-178458022

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3585G>C; p.K1195N; 1:178467361-178467361

breastcarcinomaSubstitution - Missense

c.276G>T; p.E92D; 1:178283691-178283691

breastcarcinomaSubstitution - Missense

c.2210G>A; p.R737H; 1:178456752-178456752

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3695C>T; p.A1232V; 1:178473124-178473124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3695C>T; p.A1232V; 1:178473124-178473124

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2507G>T; p.S836I; 1:178457832-178457832

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1976A>G; p.Y659C; 1:178454467-178454467

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3657C>T; p.I1219I; 1:178473086-178473086

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.955T>A; p.C319S; 1:178442756-178442756

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2550G>A; p.V850V; 1:178457875-178457875

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1817C>G; p.S606*; 1:178452514-178452514

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1104G>C; p.K368N; 1:178442905-178442905

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1104G>C; p.K368N; 1:178442905-178442905

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3001C>T; p.R1001*; 1:178458326-178458326

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2430G>T; p.L810L; 1:178457755-178457755

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.253G>T; p.V85L; 1:178283668-178283668

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2634G>A; p.Q878Q; 1:178457959-178457959

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.76G>A; p.V26I; 1:178094622-178094622

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1652T>C; p.I551T; 1:178451649-178451649

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1097A>G; p.E366G; 1:178442898-178442898

pancreascarcinomaSubstitution - Missense

c.2494C>T; p.P832S; 1:178457819-178457819

skinmalignant_melanomaSubstitution - Missense

c.1536C>T; p.L512L; 1:178445625-178445625

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3027T>G; p.G1009G; 1:178458352-178458352

breastcarcinomaSubstitution - coding silent

c.989G>A; p.R330H; 1:178442790-178442790

breastcarcinomaSubstitution - Missense

c.2595A>T; p.G865G; 1:178457920-178457920

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2388G>A; p.Q796Q; 1:178457713-178457713

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3223C>G; p.Q1075E; 1:178464281-178464281

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1533C>A; p.Y511*; 1:178445622-178445622

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3068C>A; p.S1023Y; 1:178458393-178458393

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3733C>T; p.R1245C; 1:178473162-178473162

skinmalignant_melanomaSubstitution - Missense

c.2657C>T; p.P886L; 1:178457982-178457982

skinmalignant_melanomaSubstitution - Missense

c.2235A>C; p.S745S; 1:178456777-178456777

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1278G>T; p.L426L; 1:178443079-178443079

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2294G>T; p.S765I; 1:178456836-178456836

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2504G>A; p.R835Q; 1:178457829-178457829

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2504G>A; p.R835Q; 1:178457829-178457829

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.200C>T; p.T67I; 1:178283615-178283615

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200C>T; p.T67I; 1:178283615-178283615

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1573G>T; p.G525W; 1:178445662-178445662

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1384G>T; p.A462S; 1:178443185-178443185

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.383C>T; p.P128L; 1:178300098-178300098

skinmalignant_melanomaSubstitution - Missense


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