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

Basic Information

Gene ID

6772

Name

STAT1

Synonymous

signal transducer and activator of transcription 1, 91kDa;STAT1;signal transducer and activator of transcription 1, 91kDa

Definition

signal transducer and activator of transcription 1, 91kD|signal transducer and activator of transcription 1-alpha/beta|signal transducer and activator of transcription-1|transcription factor ISGF-3 components p91/p84

Position

2q32.2

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 0.06.

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.995C>T; p.P332L; 2:190991270-190991270

 livercarcinomaSubstitution - Missense

c.995C>T; p.P332L; 2:190991270-190991270

 livercarcinomaSubstitution - Missense

c.1191T>C; p.N397N; 2:190986884-190986884

 livercarcinomaSubstitution - coding silent

c.1191T>C; p.N397N; 2:190986884-190986884

 livercarcinomaSubstitution - coding silent

c.649A>C; p.I217L; 2:190997992-190997992

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1450C>T; p.L484L; 2:190982515-190982515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1086C>A; p.V362V; 2:190989626-190989626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1912G>A; p.E638K; 2:190976987-190976987

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2085C>T; p.G695G; 2:190975862-190975862

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2131G>A; p.E711K; 2:190975816-190975816

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2131G>A; p.E711K; 2:190975816-190975816

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.355G>A; p.A119T; 2:191007580-191007580

 pancreascarcinomaSubstitution - Missense

c.1344C>A; p.L448L; 2:190984313-190984313

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.199C>T; p.Q67*; 2:191009037-191009037

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1276G>A; p.V426I; 2:190984381-190984381

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1946G>A; p.R649H; 2:190976953-190976953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1725T>A; p.D575E; 2:190979774-190979774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1380C>T; p.N460N; 2:190983708-190983708

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1214G>A; p.R405Q; 2:190986861-190986861

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1701delA; p.K567fs*25; 2:190979798-190979798

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1874-1G>C; p.?; 2:190977026-190977026

 urinary_tract; bladdercarcinomaUnknown

c.2229C>T; p.F743F; 2:190974839-190974839

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1256C>T; p.T419M; 2:190985626-190985626

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.261G>T; p.K87N; 2:191008975-191008975

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.85G>C; p.E29Q; 2:191009919-191009919

 skinmalignant_melanomaSubstitution - Missense

c.1657C>T; p.P553S; 2:190979842-190979842

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1778A>T; p.D593V; 2:190978951-190978951

 breastcarcinomaSubstitution - Missense

c.1600G>A; p.D534N; 2:190980652-190980652

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1692C>T; p.L564L; 2:190979807-190979807

 skinmalignant_melanomaSubstitution - coding silent

c.485G>T; p.S162I; 2:190999682-190999682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.838T>A; p.L280M; 2:190995167-190995167

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.500A>G; p.Q167R; 2:190999667-190999667

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1822C>T; p.R608W; 2:190978907-190978907

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1166T>G; p.V389G; 2:190986909-190986909

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.623A>G; p.N208S; 2:190998227-190998227

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.389T>C; p.I130T; 2:191001147-191001147

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.867C>T; p.Y289Y; 2:190995138-190995138

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1452G>A; p.L484L; 2:190982513-190982513

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1531A>G; p.K511E; 2:190982434-190982434

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.836delA; p.K279fs*57; 2:190995169-190995169

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.16G>A; p.E6K; 2:191009988-191009988

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.116A>T; p.E39V; 2:191009888-191009888

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.890_891insA; p.N297fs*61; 2:190995114-190995115

 oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.502G>C; p.D168H; 2:190999665-190999665

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1735A>C; p.M579L; 2:190978994-190978994

 skinmalignant_melanomaSubstitution - Missense

c.1787C>T; p.P596L; 2:190978942-190978942

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.231C>A; p.F77L; 2:191009005-191009005

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.586C>T; p.Q196*; 2:190998264-190998264

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.892A>C; p.K298Q; 2:190995113-190995113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1584T>C; p.G528G; 2:190980668-190980668

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - coding silent

c.1265G>C; p.G422A; 2:190984392-190984392

 pleurapulmonary_blastomaSubstitution - Missense

c.1945C>T; p.R649C; 2:190976954-190976954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1945C>T; p.R649C; 2:190976954-190976954

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1945C>T; p.R649C; 2:190976954-190976954

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.602A>G; p.K201R; 2:190998248-190998248

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2197G>T; p.E733*; 2:190974871-190974871

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.1087T>G; p.L363V; 2:190989625-190989625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1985A>T; p.N662I; 2:190976914-190976914

 livercarcinomaSubstitution - Missense

c.1985A>T; p.N662I; 2:190976914-190976914

 livercarcinomaSubstitution - Missense

c.1471C>G; p.P491A; 2:190982494-190982494

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1471C>G; p.P491A; 2:190982494-190982494

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1203G>A; p.A401A; 2:190986872-190986872

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2042A>T; p.Y681F; 2:190976857-190976857

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.981G>T; p.T327T; 2:190991284-190991284

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1591G>A; p.A531T; 2:190980661-190980661

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2090A>T; p.K697I; 2:190975857-190975857

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.362G>T; p.R121I; 2:191007573-191007573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1997A>G; p.Y666C; 2:190976902-190976902

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1473A>G; p.P491P; 2:190982492-190982492

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1473A>G; p.P491P; 2:190982492-190982492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1651A>C; p.N551H; 2:190979848-190979848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.215C>A; p.S72Y; 2:191009021-191009021

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.881T>C; p.I294T; 2:190995124-190995124

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.494A>C; p.D165A; 2:190999673-190999673

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.567G>C; p.K189N; 2:190998283-190998283

 breastcarcinomaSubstitution - Missense

c.1633-1G>C; p.?; 2:190979867-190979867

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1915C>A; p.L639I; 2:190976984-190976984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.167G>A; p.R56H; 2:191009069-191009069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.381G>C; p.S127S; 2:191001155-191001155

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.735C>T; p.S245S; 2:190997906-190997906

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.79C>T; p.P27S; 2:191009925-191009925

 skinmalignant_melanomaSubstitution - Missense

c.602A>T; p.K201M; 2:190998248-190998248

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.602A>T; p.K201M; 2:190998248-190998248

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1890G>A; p.A630A; 2:190977009-190977009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.551C>T; p.T184I; 2:190998299-190998299

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1098A>T; p.K366N; 2:190987068-190987068

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1118C>A; p.T373K; 2:190987048-190987048

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1496C>T; p.S499L; 2:190982469-190982469

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.262C>T; p.R88C; 2:191008974-191008974

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1496C>T; p.S499L; 2:190982469-190982469

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1428G>T; p.M476I; 2:190983660-190983660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1703A>C; p.H568P; 2:190979796-190979796

 breastcarcinomaSubstitution - Missense

c.2012T>C; p.I671T; 2:190976887-190976887

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.800C>T; p.A267V; 2:190995205-190995205

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1730G>A; p.C577Y; 2:190978999-190978999

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.725G>C; p.R242T; 2:190997916-190997916

 thyroidcarcinomaSubstitution - Missense

c.1825G>A; p.E609K; 2:190978904-190978904

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1257G>A; p.T419T; 2:190985625-190985625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>A; p.T227T; 2:190997960-190997960

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1613C>T; p.P538L; 2:190980639-190980639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1600G>T; p.D534Y; 2:190980652-190980652

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.821G>A; p.R274Q; 2:190995184-190995184

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1687G>A; p.E563K; 2:190979812-190979812

 livercarcinomaSubstitution - Missense

c.1687G>A; p.E563K; 2:190979812-190979812

 livercarcinomaSubstitution - Missense

c.1687G>A; p.E563K; 2:190979812-190979812

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.1387C>G; p.Q463E; 2:190983701-190983701

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.557G>T; p.G186V; 2:190998293-190998293

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.722G>A; p.R241Q; 2:190997919-190997919

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1665G>C; p.W555C; 2:190979834-190979834

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1924G>A; p.V642I; 2:190976975-190976975

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1728-1G>T; p.?; 2:190979002-190979002

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1227G>T; p.L409F; 2:190985655-190985655

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1612C>T; p.P538S; 2:190980640-190980640

 skinmalignant_melanomaSubstitution - Missense

c.1227G>T; p.L409F; 2:190985655-190985655

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1912G>T; p.E638*; 2:190976987-190976987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.460A>T; p.M154L; 2:191001076-191001076

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1912G>T; p.E638*; 2:190976987-190976987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1128-2A>C; p.?; 2:190986949-190986949

 stomachcarcinoma; adenocarcinomaUnknown

c.1236G>C; p.Q412H; 2:190985646-190985646

 breastcarcinomaSubstitution - Missense

c.601A>G; p.K201E; 2:190998249-190998249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.280T>G; p.F94V; 2:191007655-191007655

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.E169K; 2:190999662-190999662

 livercarcinomaSubstitution - Missense

c.505G>A; p.E169K; 2:190999662-190999662

 livercarcinomaSubstitution - Missense

c.721C>T; p.R241W; 2:190997920-190997920

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.371A>G; p.Q124R; 2:191007564-191007564

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1492C>G; p.L498V; 2:190982473-190982473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.721C>T; p.R241W; 2:190997920-190997920

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1889C>T; p.A630V; 2:190977010-190977010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1889C>T; p.A630V; 2:190977010-190977010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1889C>T; p.A630V; 2:190977010-190977010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1889C>T; p.A630V; 2:190977010-190977010

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.46_47insGCCTGG; p.L15_E16insGL; 2:191009957-191009958

 breastcarcinomaInsertion - In frame

c.2135T>C; p.V712A; 2:190975812-190975812

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.A469T; 2:190983683-190983683

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1823G>A; p.R608Q; 2:190978906-190978906

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1504C>T; p.L502L; 2:190982461-190982461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1221+2T>C; p.?; 2:190986852-190986852

 stomachcarcinoma; adenocarcinomaUnknown

c.1195A>G; p.S399G; 2:190986880-190986880

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2194G>C; p.D732H; 2:190974874-190974874

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1472C>A; p.P491Q; 2:190982493-190982493

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1436C>T; p.A479V; 2:190983652-190983652

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2113G>A; p.E705K; 2:190975834-190975834

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1184C>T; p.S395F; 2:190986891-190986891

 skinmalignant_melanomaSubstitution - Missense

c.2136-10C>T; p.?; 2:190974942-190974942

 livercarcinomaUnknown

c.2113G>A; p.E705K; 2:190975834-190975834

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2113G>A; p.E705K; 2:190975834-190975834

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1650A>C; p.K550N; 2:190979849-190979849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1650A>C; p.K550N; 2:190979849-190979849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1633-3C>A; p.?; 2:190979869-190979869

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.171T>A; p.F57L; 2:191009065-191009065

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1429C>T; p.L477L; 2:190983659-190983659

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.920G>A; p.S307N; 2:190995085-190995085

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1270C>G; p.L424V; 2:190984387-190984387

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1062G>A; p.L354L; 2:190989650-190989650

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.597C>G; p.L199L; 2:190998253-190998253

 breastcarcinomaSubstitution - coding silent

c.595C>G; p.L199V; 2:190998255-190998255

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1445G>T; p.R482M; 2:190983643-190983643

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.312C>T; p.I104I; 2:191007623-191007623

 skinmalignant_melanomaSubstitution - coding silent

c.942G>A; p.Q314Q; 2:190995063-190995063

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.539G>C; p.R180T; 2:190999628-190999628

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2154G>C; p.Q718H; 2:190974914-190974914

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2154G>C; p.Q718H; 2:190974914-190974914

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.372+3A>G; p.?; 2:191007560-191007560

 livercarcinomaUnknown

c.1874-8C>T; p.?; 2:190977033-190977033

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1874-8C>T; p.?; 2:190977033-190977033

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.820C>T; p.R274W; 2:190995185-190995185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1540C>G; p.L514V; 2:190982425-190982425

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2200G>C; p.V734L; 2:190974868-190974868

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.988C>A; p.Q330K; 2:190991277-190991277

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.988C>A; p.Q330K; 2:190991277-190991277

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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