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

Basic Information

Gene ID

5071

Name

PARK2

Synonymous

parkin RBR E3 ubiquitin protein ligase;PARK2;parkin RBR E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase parkin|Parkinson disease (autosomal recessive, juvenile) 2, parkin|parkinson juvenile disease protein 2|parkinson protein 2, E3 ubiquitin protein ligase (parkin)

Position

6q25.2-q27

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 0.09.

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.1372A>C; p.M458L; 6:161350125-161350125

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.82G>A; p.E28K; 6:162443399-162443399

 skinmalignant_melanomaSubstitution - Missense

c.1329C>T; p.L443L; 6:161350168-161350168

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1329C>T; p.L443L; 6:161350168-161350168

 skinmalignant_melanomaSubstitution - coding silent

c.964G>T; p.E322*; 6:161548973-161548973

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1353C>T; p.C451C; 6:161350144-161350144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.848T>G; p.L283R; 6:161785795-161785795

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1346G>T; p.C449F; 6:161350151-161350151

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.37T>G; p.F13V; 6:162443444-162443444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1041G>T; p.Q347H; 6:161548896-161548896

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1256C>T; p.P419L; 6:161360117-161360117

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.880C>T; p.P294S; 6:161569408-161569408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.685A>T; p.I229F; 6:161973351-161973351

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.685A>T; p.I229F; 6:161973351-161973351

 large_intestine; coloncarcinomaSubstitution - Missense

c.1183G>A; p.E395K; 6:161360190-161360190

 breastcarcinomaSubstitution - Missense

c.685A>T; p.I229F; 6:161973351-161973351

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.81G>A; p.K27K; 6:162443400-162443400

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.599A>C; p.H200P; 6:162054110-162054110

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.978G>T; p.Q326H; 6:161548959-161548959

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.891G>A; p.L297L; 6:161569397-161569397

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.449G>T; p.C150F; 6:162201216-162201216

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1312C>A; p.Q438K; 6:161350185-161350185

 oesophaguscarcinomaSubstitution - Missense

c.619G>A; p.E207K; 6:161973417-161973417

 skinmalignant_melanomaSubstitution - Missense

c.627C>A; p.F209L; 6:161973409-161973409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.137C>A; p.A46E; 6:162443344-162443344

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.384G>A; p.R128R; 6:162262553-162262553

 skinmalignant_melanomaSubstitution - coding silent

c.858C>T; p.S286S; 6:161785785-161785785

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.40C>T; p.P14S; 6:162443441-162443441

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.824G>C; p.R275P; 6:161785819-161785819

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.986_987insG; p.V330fs*17; 6:161548950-161548951

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.899A>G; p.E300G; 6:161569389-161569389

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.755A>G; p.Q252R; 6:161785888-161785888

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1285+1G>T; p.?; 6:161360087-161360087

 lungcarcinoma; adenocarcinomaUnknown

c.1116C>A; p.Y372*; 6:161386845-161386845

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1220C>G; p.S407C; 6:161360153-161360153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535-1G>T; p.?; 6:162054175-162054175

 lungcarcinoma; adenocarcinomaUnknown

c.291G>T; p.R97R; 6:162262646-162262646

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.881C>T; p.P294L; 6:161569407-161569407

 skinmalignant_melanomaSubstitution - Missense

c.970G>T; p.V324F; 6:161548967-161548967

 breastcarcinomaSubstitution - Missense

c.694A>C; p.N232H; 6:161973342-161973342

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.892A>T; p.I298F; 6:161569396-161569396

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.434G>A; p.S145N; 6:162201231-162201231

 skinmalignant_melanomaSubstitution - Missense

c.1258C>T; p.R420C; 6:161360115-161360115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1036G>A; p.D346N; 6:161548901-161548901

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1004C>T; p.P335L; 6:161548933-161548933

 skinmalignant_melanomaSubstitution - Missense

c.251_252insT; p.G85fs*12; 6:162262685-162262686

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1192G>A; p.A398T; 6:161360181-161360181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1382A>G; p.H461R; 6:161350115-161350115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.G329S; 6:161548952-161548952

 bone; femurchondrosarcomaSubstitution - Missense

c.1269A>G; p.V423V; 6:161360104-161360104

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.824G>T; p.R275L; 6:161785819-161785819

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.412+2T>A; p.?; 6:162262523-162262523

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.561A>C; p.L187F; 6:162054148-162054148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.65G>T; p.S22I; 6:162443416-162443416

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1041G>C; p.Q347H; 6:161548896-161548896

 breastcarcinomaSubstitution - Missense

c.1164T>G; p.T388T; 6:161386797-161386797

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1017G>A; p.A339A; 6:161548920-161548920

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.276G>A; p.A92A; 6:162262661-162262661

 large_intestine; caecumadenomaSubstitution - coding silent

c.1111G>A; p.A371T; 6:161386850-161386850

 skinmalignant_melanomaSubstitution - Missense

c.603C>T; p.C201C; 6:162054106-162054106

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.130A>C; p.I44L; 6:162443351-162443351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.283T>A; p.C95S; 6:162262654-162262654

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.768C>T; p.R256R; 6:161785875-161785875

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.573G>A; p.R191R; 6:162054136-162054136

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.571C>A; p.R191R; 6:162054138-162054138

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.571C>A; p.R191R; 6:162054138-162054138

 ovaryother; neoplasmSubstitution - coding silent

c.719C>T; p.T240M; 6:161973317-161973317

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.719C>T; p.T240M; 6:161973317-161973317

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.25T>G; p.S9A; 6:162443456-162443456

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.709A>G; p.T237A; 6:161973327-161973327

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.719C>T; p.T240M; 6:161973317-161973317

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.875G>A; p.G292D; 6:161569413-161569413

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.641C>A; p.A214E; 6:161973395-161973395

 prostatecarcinomaSubstitution - Missense

c.1065C>A; p.G355G; 6:161548872-161548872

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.297C>T; p.P99P; 6:162262640-162262640

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.700C>T; p.R234W; 6:161973336-161973336

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.664A>G; p.T222A; 6:161973372-161973372

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1391A>T; p.D464V; 6:161350106-161350106

 pancreascarcinomaSubstitution - Missense

c.1230C>T; p.T410T; 6:161360143-161360143

 skinmalignant_melanomaSubstitution - coding silent

c.729C>T; p.D243D; 6:161973307-161973307

 pancreascarcinomaSubstitution - coding silent

c.1194C>T; p.A398A; 6:161360179-161360179

 livercarcinomaSubstitution - coding silent

c.1194C>T; p.A398A; 6:161360179-161360179

 livercarcinomaSubstitution - coding silent

c.688G>A; p.A230T; 6:161973348-161973348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.390C>T; p.D130D; 6:162262547-162262547

 skinmalignant_melanomaSubstitution - coding silent

c.110C>T; p.P37L; 6:162443371-162443371

 skinmalignant_melanomaSubstitution - Missense

c.1390G>A; p.D464N; 6:161350107-161350107

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1136C>T; p.A379V; 6:161386825-161386825

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.F45F; 6:162443346-162443346

 skinmalignant_melanomaSubstitution - coding silent

c.1389C>T; p.F463F; 6:161350108-161350108

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.767G>T; p.R256L; 6:161785876-161785876

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1023G>T; p.L341L; 6:161548914-161548914

 breastcarcinomaSubstitution - coding silent

c.1389C>T; p.F463F; 6:161350108-161350108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.627C>T; p.F209F; 6:161973409-161973409

 skinmalignant_melanomaSubstitution - coding silent

c.1389C>T; p.F463F; 6:161350108-161350108

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.665C>A; p.T222K; 6:161973371-161973371

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.311G>A; p.R104Q; 6:162262626-162262626

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.633A>C; p.K211N; 6:161973403-161973403

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1170C>G; p.A390A; 6:161360203-161360203

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.1190C>T; p.A397V; 6:161360183-161360183

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.111G>A; p.P37P; 6:162443370-162443370

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.950A>G; p.Q317R; 6:161548987-161548987

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1028C>T; p.P343L; 6:161548909-161548909

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1028C>T; p.P343L; 6:161548909-161548909

 skinmalignant_melanomaSubstitution - Missense

c.1365C>T; p.R455R; 6:161350132-161350132

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.426C>T; p.I142I; 6:162201239-162201239

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1006_1007GG>TT; p.G336>?; 6:161548930-161548931

 lungcarcinoma; adenocarcinomaComplex

c.167T>A; p.V56E; 6:162443314-162443314

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.226A>G; p.K76E; 6:162262711-162262711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.P113S; 6:162262600-162262600

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.479G>A; p.G160E; 6:162201186-162201186

 skinmalignant_melanomaSubstitution - Missense

c.885C>A; p.N295K; 6:161569403-161569403

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.594C>T; p.S198S; 6:162054115-162054115

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1060G>C; p.G354R; 6:161548877-161548877

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1213G>C; p.A405P; 6:161360160-161360160

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272C>T; p.A91V; 6:162262665-162262665

 pancreascarcinomaSubstitution - Missense

c.1259G>A; p.R420H; 6:161360114-161360114

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1259G>A; p.R420H; 6:161360114-161360114

 large_intestine; coloncarcinomaSubstitution - Missense

c.1259G>A; p.R420H; 6:161360114-161360114

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.272C>T; p.A91V; 6:162262665-162262665

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.275C>T; p.A92V; 6:162262662-162262662

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.458C>T; p.P153L; 6:162201207-162201207

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.518C>T; p.T173M; 6:162201147-162201147

 skinmalignant_melanomaSubstitution - Missense

c.340G>T; p.G114*; 6:162262597-162262597

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1358G>T; p.W453L; 6:161350139-161350139

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1132A>G; p.S378G; 6:161386829-161386829

 skinmalignant_melanomaSubstitution - Missense

c.871G>T; p.A291S; 6:161785772-161785772

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.992T>A; p.L331*; 6:161548945-161548945

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.202C>T; p.H68Y; 6:162262735-162262735

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.741delC; p.V248fs*11; 6:161785902-161785902

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.466A>T; p.R156*; 6:162201199-162201199

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.741delC; p.V248fs*11; 6:161785902-161785902

 stomachadenocarcinomaDeletion - Frameshift

c.1181A>G; p.D394G; 6:161360192-161360192

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.580_581GG>AT; p.G194I; 6:162054128-162054129

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.124C>A; p.R42S; 6:162443357-162443357

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1112C>T; p.A371V; 6:161386849-161386849

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1117C>G; p.H373D; 6:161386844-161386844

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.522C>G; p.L174L; 6:162201143-162201143

 breastcarcinomaSubstitution - coding silent

c.646C>T; p.P216S; 6:161973390-161973390

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.859C>T; p.L287L; 6:161785784-161785784

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.477G>A; p.P159P; 6:162201188-162201188

 skinmalignant_melanomaSubstitution - coding silent

c.1314G>A; p.Q438Q; 6:161350183-161350183

 skinmalignant_melanomaSubstitution - coding silent

c.212A>C; p.Q71P; 6:162262725-162262725

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.556G>A; p.V186I; 6:162054153-162054153

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.412G>C; p.A138P; 6:162262525-162262525

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.915G>A; p.R305R; 6:161569373-161569373

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1029G>A; p.P343P; 6:161548908-161548908

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.474G>T; p.Q158H; 6:162201191-162201191

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.919C>A; p.L307M; 6:161569369-161569369

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.E221K; 6:161973375-161973375

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.388G>A; p.D130N; 6:162262549-162262549

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.587G>A; p.C196Y; 6:162054122-162054122

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.234A>G; p.Q78Q; 6:162262703-162262703

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.234A>G; p.Q78Q; 6:162262703-162262703

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.387G>T; p.K129N; 6:162262550-162262550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.823C>T; p.R275W; 6:161785820-161785820

 NSmalignant_melanomaSubstitution - Missense

c.1260C>T; p.R420R; 6:161360113-161360113

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.171G>A; p.Q57Q; 6:162443310-162443310

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.258C>T; p.D86D; 6:162262679-162262679

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.638G>T; p.G213V; 6:161973398-161973398

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.265A>G; p.R89G; 6:162262672-162262672

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.263C>T; p.P88L; 6:162262674-162262674

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1283delA; p.N428fs*7; 6:161360090-161360090

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.459C>A; p.P153P; 6:162201206-162201206

 breastcarcinomaSubstitution - coding silent

c.354delG; p.L119fs*58; 6:162262583-162262583

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1057G>T; p.E353*; 6:161548880-161548880

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.500G>A; p.S167N; 6:162201165-162201165

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.S167N; 6:162201165-162201165

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.500G>A; p.S167N; 6:162201165-162201165

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.522C>T; p.L174L; 6:162201143-162201143

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1028C>A; p.P343Q; 6:161548909-161548909

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.442G>T; p.V148L; 6:162201223-162201223

 urinary_tract; bladdercarcinomaSubstitution - Missense

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