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

Basic Information

Gene ID

196

Name

AHR

Synonymous

aryl hydrocarbon receptor;AHR;aryl hydrocarbon receptor

Definition

AH-receptor|ah receptor|aromatic hydrocarbon receptor|class E basic helix-loop-helix protein 76

Position

7p15

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 0.10.

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.1843G>T; p.E615*; 7:17339668-17339668

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1978G>A; p.V660M; 7:17339803-17339803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2449A>C; p.N817H; 7:17342966-17342966

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.513G>A; p.Q171Q; 7:17330014-17330014

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.132T>C; p.N44N; 7:17310002-17310002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.394G>A; p.D132N; 7:17327792-17327792

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.D132N; 7:17327792-17327792

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.143A>G; p.D48G; 7:17310013-17310013

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2365A>C; p.N789H; 7:17340190-17340190

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1151G>A; p.R384K; 7:17335777-17335777

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.861T>C; p.F287F; 7:17334067-17334067

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.318C>T; p.F106F; 7:17322565-17322565

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.318C>T; p.F106F; 7:17322565-17322565

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.110A>C; p.K37T; 7:17309980-17309980

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1147C>T; p.Q383*; 7:17335773-17335773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.422C>A; p.T141N; 7:17327820-17327820

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1748C>T; p.T583M; 7:17339573-17339573

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.422C>A; p.T141N; 7:17327820-17327820

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1193G>A; p.R398Q; 7:17339018-17339018

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1384C>T; p.Q462*; 7:17339209-17339209

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1193G>A; p.R398Q; 7:17339018-17339018

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1193G>A; p.R398Q; 7:17339018-17339018

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1193G>A; p.R398Q; 7:17339018-17339018

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.951G>A; p.T317T; 7:17334929-17334929

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1334C>T; p.T445I; 7:17339159-17339159

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.80C>T; p.P27L; 7:17309950-17309950

 skinmalignant_melanomaSubstitution - Missense

c.2099T>G; p.F700C; 7:17339924-17339924

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2026A>G; p.T676A; 7:17339851-17339851

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1516G>A; p.D506N; 7:17339341-17339341

 breastcarcinomaSubstitution - Missense

c.701T>A; p.F234Y; 7:17330882-17330882

 thyroidcarcinomaSubstitution - Missense

c.468G>C; p.Q156H; 7:17329969-17329969

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.P260L; 7:17333985-17333985

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.271C>T; p.P91S; 7:17322518-17322518

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216C>T; p.L72L; 7:17310086-17310086

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1333A>G; p.T445A; 7:17339158-17339158

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.730A>T; p.K244*; 7:17333936-17333936

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.10A>G; p.S4G; 7:17299274-17299274

 pancreascarcinomaSubstitution - Missense

c.2464C>T; p.Q822*; 7:17342981-17342981

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2463T>C; p.T821T; 7:17342980-17342980

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2463T>C; p.T821T; 7:17342980-17342980

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2463T>C; p.T821T; 7:17342980-17342980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.194A>G; p.D65G; 7:17310064-17310064

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1225G>A; p.G409R; 7:17339050-17339050

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2463T>C; p.T821T; 7:17342980-17342980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.119G>C; p.R40T; 7:17309989-17309989

 breastcarcinomaSubstitution - Missense

c.2190C>T; p.P730P; 7:17340015-17340015

 skinmalignant_melanomaSubstitution - coding silent

c.1489C>G; p.Q497E; 7:17339314-17339314

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.914G>A; p.R305K; 7:17334892-17334892

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.914G>A; p.R305K; 7:17334892-17334892

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1710T>G; p.V570V; 7:17339535-17339535

 ovaryother; neoplasmSubstitution - coding silent

c.587_588insC; p.Q198fs*7; 7:17330768-17330769

 oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.2526G>T; p.L842F; 7:17343043-17343043

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.985G>A; p.D329N; 7:17334963-17334963

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1708G>A; p.V570I; 7:17339533-17339533

 thyroidother; neoplasmSubstitution - Missense

c.595A>C; p.T199P; 7:17330776-17330776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.959C>G; p.S320*; 7:17334937-17334937

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.220G>A; p.V74I; 7:17310090-17310090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.727T>C; p.L243L; 7:17333933-17333933

 skinmalignant_melanomaSubstitution - coding silent

c.2047C>G; p.Q683E; 7:17339872-17339872

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1690A>T; p.N564Y; 7:17339515-17339515

 central_nervous_system; braingliomaSubstitution - Missense

c.1452C>G; p.N484K; 7:17339277-17339277

 livercarcinomaSubstitution - Missense

c.1335T>G; p.T445T; 7:17339160-17339160

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.275C>A; p.T92N; 7:17322522-17322522

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1668G>T; p.M556I; 7:17339493-17339493

 pancreasNSSubstitution - Missense

c.1167G>T; p.E389D; 7:17338992-17338992

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1200G>A; p.T400T; 7:17339025-17339025

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1102C>T; p.R368C; 7:17335728-17335728

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1505C>T; p.P502L; 7:17339330-17339330

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1310G>T; p.G437V; 7:17339135-17339135

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2490_2492delTCA; p.H832delH; 7:17343007-17343009

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.1102C>T; p.R368C; 7:17335728-17335728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1473T>A; p.N491K; 7:17339298-17339298

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1352_1353delTC; p.L451fs*3; 7:17339177-17339178

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.1352_1353delTC; p.L451fs*3; 7:17339177-17339178

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.1462G>A; p.E488K; 7:17339287-17339287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1600A>T; p.S534C; 7:17339425-17339425

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1462G>A; p.E488K; 7:17339287-17339287

 kidneyother; neoplasmSubstitution - Missense

c.989T>C; p.M330T; 7:17334967-17334967

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.2387A>C; p.Q796P; 7:17340212-17340212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.817C>A; p.Q273K; 7:17334023-17334023

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.142G>A; p.D48N; 7:17310012-17310012

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2461A>T; p.T821S; 7:17342978-17342978

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.574+4A>C; p.?; 7:17330079-17330079

 livercarcinomaUnknown

c.574+4A>C; p.?; 7:17330079-17330079

 livercarcinomaUnknown

c.2081_2082insTAG; p.M694>IR; 7:17339906-17339907

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaComplex - insertion inframe

c.1395G>A; p.E465E; 7:17339220-17339220

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2409G>T; p.Q803H; 7:17342926-17342926

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1395G>A; p.E465E; 7:17339220-17339220

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1015C>A; p.R339R; 7:17334993-17334993

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2198C>T; p.S733F; 7:17340023-17340023

 skinmalignant_melanomaSubstitution - Missense

c.145C>T; p.R49C; 7:17310015-17310015

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.360G>T; p.Q120H; 7:17322607-17322607

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2466G>C; p.Q822H; 7:17342983-17342983

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.314A>C; p.N105T; 7:17322561-17322561

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2292T>G; p.C764W; 7:17340117-17340117

 skinmalignant_melanomaSubstitution - Missense

c.1520C>T; p.T507I; 7:17339345-17339345

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1939G>A; p.V647I; 7:17339764-17339764

 skinmalignant_melanomaSubstitution - Missense

c.2209G>T; p.D737Y; 7:17340034-17340034

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 7:17330015-17330015

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2078C>A; p.S693Y; 7:17339903-17339903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2222G>T; p.C741F; 7:17340047-17340047

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2414G>A; p.G805E; 7:17342931-17342931

 skinmalignant_melanomaSubstitution - Missense

c.1276C>T; p.P426S; 7:17339101-17339101

 skinmalignant_melanomaSubstitution - Missense

c.1462G>T; p.E488*; 7:17339287-17339287

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1734G>A; p.T578T; 7:17339559-17339559

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1645G>C; p.D549H; 7:17339470-17339470

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2526delG; p.T843fs*>6; 7:17343043-17343043

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.842G>T; p.R281L; 7:17334048-17334048

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1055G>A; p.R352Q; 7:17335681-17335681

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.750A>G; p.K250K; 7:17333956-17333956

 livercarcinomaSubstitution - coding silent

c.2518C>T; p.P840S; 7:17343035-17343035

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.787T>C; p.L263L; 7:17333993-17333993

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.928T>C; p.Y310H; 7:17334906-17334906

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2461A>G; p.T821A; 7:17342978-17342978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2461A>G; p.T821A; 7:17342978-17342978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.306A>T; p.R102S; 7:17322553-17322553

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1379T>G; p.M460R; 7:17339204-17339204

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.377T>C; p.V126A; 7:17327775-17327775

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1905G>A; p.Q635Q; 7:17339730-17339730

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1514A>G; p.N505S; 7:17339339-17339339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1991G>T; p.C664F; 7:17339816-17339816

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1413T>C; p.P471P; 7:17339238-17339238

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.940G>C; p.E314Q; 7:17334918-17334918

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2540T>A; p.F847Y; 7:17343057-17343057

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.149T>C; p.L50S; 7:17310019-17310019

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.219C>T; p.S73S; 7:17310089-17310089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.219C>T; p.S73S; 7:17310089-17310089

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2166G>A; p.G722G; 7:17339991-17339991

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1165G>A; p.E389K; 7:17338990-17338990

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.734A>G; p.Y245C; 7:17333940-17333940

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1705G>A; p.E569K; 7:17339530-17339530

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.128T>C; p.L43P; 7:17309998-17309998

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2528C>A; p.T843K; 7:17343045-17343045

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1384C>A; p.Q462K; 7:17339209-17339209

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2105C>A; p.S702Y; 7:17339930-17339930

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409T>C; p.Y137H; 7:17327807-17327807

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1468A>G; p.M490V; 7:17339293-17339293

 thyroidother; neoplasmSubstitution - Missense

c.1176A>C; p.T392T; 7:17339001-17339001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1149G>C; p.Q383H; 7:17335775-17335775

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1149G>C; p.Q383H; 7:17335775-17335775

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1042A>G; p.M348V; 7:17335668-17335668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1149G>C; p.Q383H; 7:17335775-17335775

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1418C>G; p.S473*; 7:17339243-17339243

 NSNSSubstitution - Nonsense

c.657C>T; p.C219C; 7:17330838-17330838

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1511G>A; p.G504E; 7:17339336-17339336

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.667C>G; p.R223G; 7:17330848-17330848

 skinmalignant_melanomaSubstitution - Missense

c.1427C>G; p.S476*; 7:17339252-17339252

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.866C>T; p.T289I; 7:17334072-17334072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1936C>T; p.Q646*; 7:17339761-17339761

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1738G>T; p.E580*; 7:17339563-17339563

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2117C>T; p.P706L; 7:17339942-17339942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2307G>T; p.V769V; 7:17340132-17340132

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.417T>C; p.S139S; 7:17327815-17327815

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1790C>G; p.S597*; 7:17339615-17339615

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1199C>T; p.T400M; 7:17339024-17339024

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1790C>G; p.S597*; 7:17339615-17339615

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.361G>A; p.A121T; 7:17327759-17327759

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1015C>T; p.R339*; 7:17334993-17334993

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1015C>T; p.R339*; 7:17334993-17334993

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.1015C>T; p.R339*; 7:17334993-17334993

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.850A>C; p.N284H; 7:17334056-17334056

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2184A>G; p.P728P; 7:17340009-17340009

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1160C>T; p.T387I; 7:17335786-17335786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2369C>T; p.P790L; 7:17340194-17340194

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2499G>A; p.P833P; 7:17343016-17343016

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2499G>A; p.P833P; 7:17343016-17343016

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2265G>C; p.Q755H; 7:17340090-17340090

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2388G>T; p.Q796H; 7:17340213-17340213

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2310G>A; p.S770S; 7:17340135-17340135

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

')