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

Basic Information

Gene ID

2316

Name

FLNA

Synonymous

filamin A, alpha;FLNA;filamin A, alpha

Definition

actin binding protein 280|alpha-filamin|endothelial actin-binding protein|filamin-1|filamin-A|non-muscle filamin

Position

Xq28

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

There is no record for FLNA

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.3679G>A; p.G1227R; 23:154360116-154360116

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3679G>A; p.G1227R; 23:154360116-154360116

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3679G>A; p.G1227R; 23:154360116-154360116

central_nervous_system; braingliomaSubstitution - Missense

c.7741G>C; p.D2581H; 23:154349377-154349377

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1314C>T; p.G438G; 23:154366139-154366139

breastcarcinomaSubstitution - coding silent

c.4866C>T; p.Y1622Y; 23:154357513-154357513

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5054C>T; p.T1685M; 23:154354988-154354988

skinmalignant_melanomaSubstitution - Missense

c.902G>A; p.R301Q; 23:154366817-154366817

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1290A>G; p.V430V; 23:154366163-154366163

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.6019G>A; p.V2007M; 23:154353299-154353299

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2574C>A; p.P858P; 23:154362324-154362324

thyroidother; neoplasmSubstitution - coding silent

c.664G>A; p.V222I; 23:154367697-154367697

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7920C>T; p.S2640S; 23:154348873-154348873

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3377A>G; p.Y1126C; 23:154360418-154360418

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.V222I; 23:154367697-154367697

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1310G>A; p.R437Q; 23:154366143-154366143

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1904A>G; p.Y635C; 23:154364644-154364644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2482C>T; p.R828C; 23:154362501-154362501

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6862delC; p.R2288fs*58; 23:154351929-154351929

breastcarcinomaDeletion - Frameshift

c.7379G>A; p.G2460D; 23:154349822-154349822

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2836G>T; p.G946C; 23:154361778-154361778

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6716A>G; p.H2239R; 23:154352234-154352234

skinmalignant_melanomaSubstitution - Missense

c.6466G>A; p.V2156I; 23:154352589-154352589

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4655G>T; p.G1552V; 23:154358299-154358299

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2064C>T; p.A688A; 23:154364331-154364331

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4142G>T; p.R1381M; 23:154359484-154359484

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4344G>A; p.A1448A; 23:154359114-154359114

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5160C>T; p.Y1720Y; 23:154354882-154354882

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4363G>A; p.G1455R; 23:154359095-154359095

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.6424G>T; p.E2142*; 23:154352631-154352631

pancreascarcinomaSubstitution - Nonsense

c.4909G>A; p.V1637M; 23:154357470-154357470

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5599C>T; p.H1867Y; 23:154354002-154354002

skinmalignant_melanomaSubstitution - Missense

c.3877G>A; p.V1293I; 23:154359834-154359834

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6299G>T; p.G2100V; 23:154352852-154352852

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.6299G>T; p.G2100V; 23:154352852-154352852

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4506C>T; p.N1502N; 23:154358537-154358537

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.831C>T; p.P277P; 23:154367434-154367434

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1764C>T; p.G588G; 23:154364885-154364885

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2451C>T; p.P817P; 23:154362532-154362532

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1764C>T; p.G588G; 23:154364885-154364885

livercarcinomaSubstitution - coding silent

c.2451C>T; p.P817P; 23:154362532-154362532

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3393C>T; p.P1131P; 23:154360402-154360402

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2327G>T; p.G776V; 23:154362738-154362738

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6710delG; p.G2237fs*109; 23:154352240-154352240

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.7055C>A; p.S2352Y; 23:154351010-154351010

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.246G>T; p.E82D; 23:154371000-154371000

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.485_487delAGG; p.E162delE; 23:154367977-154367979

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.4699G>A; p.E1567K; 23:154358255-154358255

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.7574A>C; p.H2525P; 23:154349544-154349544

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3076delG; p.A1026fs*20; 23:154361439-154361439

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.6219C>T; p.R2073R; 23:154353008-154353008

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3940G>A; p.D1314N; 23:154359771-154359771

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6219C>T; p.R2073R; 23:154353008-154353008

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.6752C>T; p.A2251V; 23:154352198-154352198

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6007C>T; p.R2003C; 23:154353311-154353311

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4868G>T; p.G1623V; 23:154357511-154357511

breastcarcinomaSubstitution - Missense

c.4495G>A; p.V1499M; 23:154358548-154358548

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6602G>A; p.R2201H; 23:154352348-154352348

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6297C>T; p.D2099D; 23:154352854-154352854

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4369G>A; p.G1457S; 23:154359089-154359089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1996G>A; p.A666T; 23:154364552-154364552

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3420C>T; p.F1140F; 23:154360375-154360375

skinmalignant_melanomaSubstitution - coding silent

c.1582G>A; p.V528M; 23:154365245-154365245

breastcarcinomaSubstitution - Missense

c.1996G>A; p.A666T; 23:154364552-154364552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1052C>A; p.T351K; 23:154366575-154366575

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1996G>A; p.A666T; 23:154364552-154364552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1897G>A; p.V633M; 23:154364651-154364651

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5683G>T; p.E1895*; 23:154353918-154353918

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.5967G>A; p.P1989P; 23:154353351-154353351

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1423G>T; p.G475C; 23:154366030-154366030

ovaryother; neoplasmSubstitution - Missense

c.3795T>C; p.I1265I; 23:154360000-154360000

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3369C>T; p.S1123S; 23:154360426-154360426

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5967G>A; p.P1989P; 23:154353351-154353351

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.620C>T; p.P207L; 23:154367844-154367844

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6298G>A; p.G2100R; 23:154352853-154352853

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5062G>C; p.V1688L; 23:154354980-154354980

ovaryother; neoplasmSubstitution - Missense

c.1165C>A; p.P389T; 23:154366371-154366371

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1008C>T; p.N336N; 23:154366619-154366619

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.70C>A; p.R24R; 23:154371176-154371176

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2472C>T; p.F824F; 23:154362511-154362511

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5146delC; p.Q1716fs*23; 23:154354896-154354896

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.7510C>T; p.P2504S; 23:154349691-154349691

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.5146delC; p.Q1716fs*23; 23:154354896-154354896

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2516C>T; p.T839M; 23:154362467-154362467

thyroidcarcinomaSubstitution - Missense

c.2516C>T; p.T839M; 23:154362467-154362467

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1359C>T; p.V453V; 23:154366094-154366094

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2839G>A; p.V947I; 23:154361775-154361775

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3648G>A; p.T1216T; 23:154360147-154360147

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4483G>A; p.E1495K; 23:154358560-154358560

skinmalignant_melanomaSubstitution - Missense

c.6570C>T; p.I2190I; 23:154352380-154352380

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2033G>A; p.R678H; 23:154364362-154364362

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2033G>A; p.R678H; 23:154364362-154364362

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5289C>T; p.Y1763Y; 23:154354640-154354640

pancreascarcinomaSubstitution - coding silent

c.3990C>G; p.S1330S; 23:154359636-154359636

livercarcinomaSubstitution - coding silent

c.3990C>G; p.S1330S; 23:154359636-154359636

livercarcinomaSubstitution - coding silent

c.3882G>T; p.K1294N; 23:154359829-154359829

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1765G>A; p.G589S; 23:154364884-154364884

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1765G>A; p.G589S; 23:154364884-154364884

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1526G>T; p.G509V; 23:154365390-154365390

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.956A>G; p.Y319C; 23:154366763-154366763

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4288G>A; p.G1430S; 23:154359261-154359261

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3256G>A; p.A1086T; 23:154360539-154360539

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2058T>G; p.G686G; 23:154364337-154364337

breastcarcinomaSubstitution - coding silent

c.850G>A; p.A284T; 23:154367415-154367415

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.846G>A; p.K282K; 23:154367419-154367419

breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.5097C>A; p.D1699E; 23:154354945-154354945

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6583A>G; p.N2195D; 23:154352367-154352367

skinmalignant_melanomaSubstitution - Missense

c.1528G>A; p.A510T; 23:154365388-154365388

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7943G>T; p.*2648L; 23:154348850-154348850

skinmalignant_melanomaNonstop extension

c.803A>G; p.K268R; 23:154367462-154367462

livercarcinomaSubstitution - Missense

c.803A>G; p.K268R; 23:154367462-154367462

livercarcinomaSubstitution - Missense

c.2638C>A; p.P880T; 23:154362260-154362260

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3572C>T; p.A1191V; 23:154360223-154360223

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3086G>A; p.S1029N; 23:154361429-154361429

livercarcinomaSubstitution - Missense

c.4781C>A; p.T1594K; 23:154357598-154357598

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3199C>T; p.P1067S; 23:154361316-154361316

skinmalignant_melanomaSubstitution - Missense

c.3086G>A; p.S1029N; 23:154361429-154361429

livercarcinomaSubstitution - Missense

c.7632C>T; p.A2544A; 23:154349486-154349486

skinmalignant_melanomaSubstitution - coding silent

c.5273C>A; p.A1758D; 23:154354656-154354656

thyroidother; neoplasmSubstitution - Missense

c.7062A>G; p.A2354A; 23:154351003-154351003

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1813G>A; p.D605N; 23:154364836-154364836

breastcarcinomaSubstitution - Missense

c.2023-2A>C; p.?; 23:154364374-154364374

lungcarcinoma; squamous_cell_carcinomaUnknown

c.3368C>T; p.S1123F; 23:154360427-154360427

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5874G>A; p.M1958I; 23:154353444-154353444

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5874G>A; p.M1958I; 23:154353444-154353444

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4758T>C; p.D1586D; 23:154357621-154357621

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2623G>A; p.V875M; 23:154362275-154362275

skinmalignant_melanomaSubstitution - Missense

c.7928G>A; p.R2643H; 23:154348865-154348865

pancreascarcinomaSubstitution - Missense

c.720+9G>T; p.?; 23:154367632-154367632

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.6897C>G; p.V2299V; 23:154351894-154351894

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1996G>T; p.A666S; 23:154364552-154364552

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5881T>C; p.S1961P; 23:154353437-154353437

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7901delA; p.D2634fs*>14; 23:154348892-154348892

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.7742A>G; p.D2581G; 23:154349376-154349376

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7742A>G; p.D2581G; 23:154349376-154349376

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7636delC; p.Q2546fs*22; 23:154349482-154349482

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.4803C>T; p.D1601D; 23:154357576-154357576

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1278G>A; p.Q426Q; 23:154366175-154366175

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1065G>A; p.K355K; 23:154366562-154366562

skinmalignant_melanomaSubstitution - coding silent

c.1278G>A; p.Q426Q; 23:154366175-154366175

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.136C>T; p.Q46*; 23:154371110-154371110

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.5833G>T; p.G1945C; 23:154353581-154353581

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4510G>A; p.D1504N; 23:154358533-154358533

breastcarcinomaSubstitution - Missense

c.826C>T; p.R276W; 23:154367439-154367439

central_nervous_system; braingliomaSubstitution - Missense

c.5913C>G; p.I1971M; 23:154353405-154353405

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5076T>C; p.D1692D; 23:154354966-154354966

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2632G>A; p.E878K; 23:154362266-154362266

breastcarcinomaSubstitution - Missense

c.6408C>T; p.G2136G; 23:154352647-154352647

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2504C>T; p.T835M; 23:154362479-154362479

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.553A>G; p.I185V; 23:154367911-154367911

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6445C>T; p.R2149W; 23:154352610-154352610

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.3597G>A; p.S1199S; 23:154360198-154360198

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.5491C>T; p.R1831W; 23:154354217-154354217

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5069C>T; p.T1690M; 23:154354973-154354973

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6229T>A; p.Y2077N; 23:154352922-154352922

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2325C>T; p.Y775Y; 23:154362740-154362740

breastcarcinomaSubstitution - coding silent

c.7515C>T; p.Y2505Y; 23:154349686-154349686

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.553A>G; p.I185V; 23:154367911-154367911

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7668C>T; p.D2556D; 23:154349450-154349450

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.1508T>A; p.F503Y; 23:154365408-154365408

central_nervous_system; braingliomaSubstitution - Missense

c.506A>C; p.K169T; 23:154367958-154367958

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2510A>G; p.K837R; 23:154362473-154362473

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.206C>T; p.T69M; 23:154371040-154371040

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1114G>T; p.V372L; 23:154366422-154366422

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.5387C>T; p.P1796L; 23:154354410-154354410

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5696C>T; p.S1899F; 23:154353718-154353718

skinmalignant_melanomaSubstitution - Missense

c.6213T>C; p.D2071D; 23:154353014-154353014

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6317A>C; p.Y2106S; 23:154352834-154352834

breastcarcinomaSubstitution - Missense

c.739A>G; p.I247V; 23:154367526-154367526

skinmalignant_melanomaSubstitution - Missense

c.2814G>A; p.T938T; 23:154361991-154361991

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4247C>T; p.P1416L; 23:154359302-154359302

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4661G>A; p.G1554E; 23:154358293-154358293

skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.4883C>T; p.P1628L; 23:154357496-154357496

skinmalignant_melanomaSubstitution - Missense

c.2615C>T; p.A872V; 23:154362283-154362283

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.5478C>A; p.G1826G; 23:154354230-154354230

livercarcinomaSubstitution - coding silent

c.5478C>A; p.G1826G; 23:154354230-154354230

livercarcinomaSubstitution - coding silent

c.299G>A; p.R100H; 23:154370947-154370947

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4290C>T; p.G1430G; 23:154359259-154359259

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2437G>A; p.G813R; 23:154362546-154362546

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7053C>T; p.A2351A; 23:154351012-154351012

oesophaguscarcinomaSubstitution - coding silent

c.5917A>T; p.I1973F; 23:154353401-154353401

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.843G>T; p.P281P; 23:154367422-154367422

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2037G>T; p.G679G; 23:154364358-154364358

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.4196A>G; p.K1399R; 23:154359353-154359353

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2037G>T; p.G679G; 23:154364358-154364358

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3514C>A; p.R1172R; 23:154360281-154360281

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3514C>A; p.R1172R; 23:154360281-154360281

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.144T>G; p.T48T; 23:154371102-154371102

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5995C>T; p.L1999L; 23:154353323-154353323

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1096G>A; p.A366T; 23:154366440-154366440

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1242C>T; p.G414G; 23:154366211-154366211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1923C>T; p.G641G; 23:154364625-154364625

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3904G>T; p.G1302C; 23:154359807-154359807

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.7910T>A; p.I2637N; 23:154348883-154348883

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1637T>C; p.V546A; 23:154365190-154365190

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.7485C>T; p.Y2495Y; 23:154349716-154349716

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.7779G>T; p.G2593G; 23:154349014-154349014

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3353G>T; p.G1118V; 23:154360442-154360442

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5460C>T; p.I1820I; 23:154354248-154354248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1997C>T; p.A666V; 23:154364551-154364551

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4648G>A; p.A1550T; 23:154358306-154358306

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6175G>A; p.E2059K; 23:154353052-154353052

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4366C>A; p.P1456T; 23:154359092-154359092

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.313G>C; p.E105Q; 23:154370933-154370933

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7122C>G; p.A2374A; 23:154350943-154350943

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3567C>A; p.G1189G; 23:154360228-154360228

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.781C>A; p.L261M; 23:154367484-154367484

pancreascarcinomaSubstitution - Missense

c.4224C>T; p.G1408G; 23:154359325-154359325

breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.4224C>T; p.G1408G; 23:154359325-154359325

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1920T>G; p.A640A; 23:154364628-154364628

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.6107C>T; p.P2036L; 23:154353120-154353120

skinmalignant_melanomaSubstitution - Missense

c.7166C>T; p.A2389V; 23:154350198-154350198

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2257A>G; p.S753G; 23:154364045-154364045

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4377C>G; p.S1459R; 23:154359081-154359081

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5132T>C; p.F1711S; 23:154354910-154354910

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1109T>A; p.F370Y; 23:154366427-154366427

breastcarcinomaSubstitution - Missense

c.5132T>C; p.F1711S; 23:154354910-154354910

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7371G>A; p.A2457A; 23:154349830-154349830

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.429C>A; p.T143T; 23:154368035-154368035

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.151C>T; p.R51C; 23:154371095-154371095

ovaryother; neoplasmSubstitution - Missense

c.7454T>C; p.V2485A; 23:154349747-154349747

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6486C>A; p.L2162L; 23:154352569-154352569

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1179C>T; p.P393P; 23:154366357-154366357

skinmalignant_melanomaSubstitution - coding silent

c.1042C>T; p.P348S; 23:154366585-154366585

skinmalignant_melanomaSubstitution - Missense

c.162C>G; p.N54K; 23:154371084-154371084

ovaryother; neoplasmSubstitution - Missense

c.3699C>G; p.I1233M; 23:154360096-154360096

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.43G>A; p.A15T; 23:154371203-154371203

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4711G>C; p.D1571H; 23:154358243-154358243

breastcarcinomaSubstitution - Missense

c.7900G>A; p.D2634N; 23:154348893-154348893

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4757A>G; p.D1586G; 23:154357622-154357622

breastcarcinomaSubstitution - Missense

c.7112C>T; p.P2371L; 23:154350953-154350953

skinmalignant_melanomaSubstitution - Missense

c.1695C>A; p.P565P; 23:154364954-154364954

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5364G>C; p.L1788L; 23:154354433-154354433

breastcarcinomaSubstitution - coding silent

c.3932A>G; p.D1311G; 23:154359779-154359779

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3932A>G; p.D1311G; 23:154359779-154359779

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>T; p.Y346Y; 23:154366589-154366589

skinmalignant_melanomaSubstitution - coding silent

c.3154delG; p.V1052fs*19; 23:154361361-154361361

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.4773G>A; p.P1591P; 23:154357606-154357606

breastcarcinomaSubstitution - coding silent

c.4465G>A; p.G1489R; 23:154358993-154358993

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1698C>T; p.F566F; 23:154364951-154364951

skinmalignant_melanomaSubstitution - coding silent

c.7360A>T; p.T2454S; 23:154349841-154349841

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4833C>T; p.D1611D; 23:154357546-154357546

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4221C>T; p.D1407D; 23:154359328-154359328

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.5074G>C; p.D1692H; 23:154354968-154354968

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2392G>A; p.E798K; 23:154362673-154362673

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4020G>A; p.V1340V; 23:154359606-154359606

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5033C>T; p.A1678V; 23:154355009-154355009

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2389G>T; p.A797S; 23:154362676-154362676

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1998G>A; p.A666A; 23:154364550-154364550

breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.2813C>T; p.T938M; 23:154361992-154361992

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1699G>A; p.E567K; 23:154364950-154364950

urinary_tract; bladdercarcinomaSubstitution - Missense

c.216C>T; p.S72S; 23:154371030-154371030

breastcarcinomaSubstitution - coding silent

c.216C>T; p.S72S; 23:154371030-154371030

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1487G>A; p.R496Q; 23:154365429-154365429

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6455C>T; p.S2152L; 23:154352600-154352600

breastcarcinomaSubstitution - Missense

c.504delC; p.K169fs*73; 23:154367960-154367960

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1911G>T; p.P637P; 23:154364637-154364637

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3259C>T; p.R1087C; 23:154360536-154360536

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4142+10C>T; p.?; 23:154359474-154359474

lungcarcinoma; squamous_cell_carcinomaUnknown

c.271C>G; p.R91G; 23:154370975-154370975

urinary_tract; bladdercarcinomaSubstitution - Missense

c.6008G>A; p.R2003H; 23:154353310-154353310

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2202C>A; p.S734S; 23:154364100-154364100

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2695G>T; p.A899S; 23:154362110-154362110

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6551A>G; p.K2184R; 23:154352399-154352399

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7194C>T; p.G2398G; 23:154350170-154350170

pancreascarcinomaSubstitution - coding silent

c.245A>G; p.E82G; 23:154371001-154371001

thyroidother; neoplasmSubstitution - Missense

c.4903C>T; p.R1635C; 23:154357476-154357476

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7894T>A; p.W2632R; 23:154348899-154348899

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2955T>A; p.V985V; 23:154361560-154361560

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1807G>T; p.G603W; 23:154364842-154364842

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6047C>T; p.T2016M; 23:154353180-154353180

oesophaguscarcinomaSubstitution - Missense

c.4896C>T; p.Y1632Y; 23:154357483-154357483

thyroidcarcinomaSubstitution - coding silent

c.1807G>T; p.G603W; 23:154364842-154364842

breastcarcinoma; ductolobular_carcinomaSubstitution - Missense

c.1228+3G>T; p.?; 23:154366305-154366305

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.5344G>C; p.G1782R; 23:154354453-154354453

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7450C>T; p.R2484C; 23:154349751-154349751

bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.6624C>T; p.G2208G; 23:154352326-154352326

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3337G>A; p.E1113K; 23:154360458-154360458

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7405C>T; p.P2469S; 23:154349796-154349796

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3822C>G; p.A1274A; 23:154359889-154359889

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1609G>A; p.V537M; 23:154365218-154365218

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2520C>T; p.P840P; 23:154362463-154362463

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2104G>A; p.G702S; 23:154364291-154364291

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.2132T>C; p.V711A; 23:154364263-154364263

breastcarcinomaSubstitution - Missense

c.1480G>C; p.G494R; 23:154365436-154365436

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3568A>G; p.S1190G; 23:154360227-154360227

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5055G>A; p.T1685T; 23:154354987-154354987

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.6601C>T; p.R2201C; 23:154352349-154352349

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3161G>C; p.G1054A; 23:154361354-154361354

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2860G>T; p.D954Y; 23:154361754-154361754

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1545G>T; p.L515L; 23:154365371-154365371

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4811A>T; p.Y1604F; 23:154357568-154357568

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.810G>A; p.K270K; 23:154367455-154367455

skinmalignant_melanomaSubstitution - coding silent

c.5634A>T; p.G1878G; 23:154353967-154353967

breastcarcinomaSubstitution - coding silent

c.7088C>T; p.A2363V; 23:154350977-154350977

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4524C>A; p.T1508T; 23:154358519-154358519

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4010G>T; p.G1337V; 23:154359616-154359616

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7669G>A; p.A2557T; 23:154349449-154349449

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7825G>A; p.V2609M; 23:154348968-154348968

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4891C>T; p.P1631S; 23:154357488-154357488

skinmalignant_melanomaSubstitution - Missense

c.1466G>A; p.G489D; 23:154365450-154365450

livercarcinomaSubstitution - Missense

c.1466G>A; p.G489D; 23:154365450-154365450

livercarcinomaSubstitution - Missense

c.2762G>A; p.R921Q; 23:154362043-154362043

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1932C>T; p.A644A; 23:154364616-154364616

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1599G>T; p.L533L; 23:154365228-154365228

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.5229G>T; p.G1743G; 23:154354700-154354700

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.5876G>A; p.R1959H; 23:154353442-154353442

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.5876G>A; p.R1959H; 23:154353442-154353442

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5164A>G; p.I1722V; 23:154354878-154354878

breastcarcinomaSubstitution - Missense

c.5817T>C; p.N1939N; 23:154353597-154353597

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.7218C>T; p.F2406F; 23:154350146-154350146

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4330G>A; p.D1444N; 23:154359128-154359128

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1223C>T; p.T408M; 23:154366313-154366313

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4808C>T; p.T1603M; 23:154357571-154357571

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.759C>T; p.D253D; 23:154367506-154367506

pancreascarcinomaSubstitution - coding silent

c.999C>T; p.T333T; 23:154366628-154366628

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3285C>T; p.A1095A; 23:154360510-154360510

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4259G>C; p.G1420A; 23:154359290-154359290

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6653G>A; p.G2218D; 23:154352297-154352297

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1026C>T; p.F342F; 23:154366601-154366601

skinmalignant_melanomaSubstitution - coding silent

c.4710C>A; p.I1570I; 23:154358244-154358244

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3972C>T; p.Y1324Y; 23:154359739-154359739

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.7610C>T; p.S2537F; 23:154349508-154349508

skinmalignant_melanomaSubstitution - Missense

c.4710C>T; p.I1570I; 23:154358244-154358244

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4452G>T; p.Q1484H; 23:154359006-154359006

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2488G>T; p.D830Y; 23:154362495-154362495

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1581C>T; p.R527R; 23:154365246-154365246

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5241G>A; p.S1747S; 23:154354688-154354688

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1167C>T; p.P389P; 23:154366369-154366369

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1581C>T; p.R527R; 23:154365246-154365246

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.792C>T; p.F264F; 23:154367473-154367473

skinmalignant_melanomaSubstitution - coding silent

c.5347C>T; p.L1783L; 23:154354450-154354450

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.732C>G; p.P244P; 23:154367533-154367533

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.6963C>T; p.F2321F; 23:154351641-154351641

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.7134C>A; p.C2378*; 23:154350931-154350931

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1399C>T; p.R467C; 23:154366054-154366054

skinmalignant_melanomaSubstitution - Missense

c.7017C>T; p.S2339S; 23:154351587-154351587

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1716C>T; p.T572T; 23:154364933-154364933

thyroidcarcinomaSubstitution - coding silent

c.3478G>A; p.A1160T; 23:154360317-154360317

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7806_7807GG>TT; p.E2602_E2603>D*; 23:154348986-154348987

lung; right_upper_lobecarcinoma; adenocarcinomaComplex - compound substitution

c.3990C>T; p.S1330S; 23:154359636-154359636

NSmalignant_melanomaSubstitution - coding silent

c.1487G>C; p.R496P; 23:154365429-154365429

ovaryother; neoplasmSubstitution - Missense

c.3990C>T; p.S1330S; 23:154359636-154359636

NSmalignant_melanomaSubstitution - coding silent

c.3544C>T; p.Q1182*; 23:154360251-154360251

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.411C>T; p.I137I; 23:154368053-154368053

skinmalignant_melanomaSubstitution - coding silent

c.6018C>T; p.H2006H; 23:154353300-154353300

livercarcinomaSubstitution - coding silent

c.6018C>T; p.H2006H; 23:154353300-154353300

livercarcinomaSubstitution - coding silent

c.4164G>C; p.L1388L; 23:154359385-154359385

breastcarcinomaSubstitution - coding silent

c.2399G>C; p.G800A; 23:154362666-154362666

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.587G>A; p.R196Q; 23:154367877-154367877

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1191C>T; p.I397I; 23:154366345-154366345

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2848A>C; p.T950P; 23:154361766-154361766

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1995C>T; p.D665D; 23:154364553-154364553

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2630C>T; p.A877V; 23:154362268-154362268

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7350C>A; p.F2450L; 23:154349851-154349851

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1327C>T; p.R443C; 23:154366126-154366126

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4050C>T; p.T1350T; 23:154359576-154359576

breastcarcinomaSubstitution - coding silent

c.2543T>G; p.I848S; 23:154362440-154362440

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2404+7C>T; p.?; 23:154362654-154362654

pancreascarcinomaUnknown

c.3636C>T; p.H1212H; 23:154360159-154360159

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3001C>G; p.Q1001E; 23:154361514-154361514

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2103C>T; p.H701H; 23:154364292-154364292

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.5070G>T; p.T1690T; 23:154354972-154354972

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2358C>T; p.A786A; 23:154362707-154362707

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2825A>G; p.Q942R; 23:154361980-154361980

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.402G>A; p.L134L; 23:154368062-154368062

breastcarcinomaSubstitution - coding silent

c.561C>A; p.N187K; 23:154367903-154367903

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.E329K; 23:154366734-154366734

breastcarcinomaSubstitution - Missense

c.3718G>A; p.V1240M; 23:154360077-154360077

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3718G>A; p.V1240M; 23:154360077-154360077

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.439C>T; p.H147Y; 23:154368025-154368025

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.6228C>A; p.G2076G; 23:154352923-154352923

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2252G>A; p.G751D; 23:154364050-154364050

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5198A>G; p.N1733S; 23:154354844-154354844

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4060G>A; p.D1354N; 23:154359566-154359566

oesophaguscarcinomaSubstitution - Missense

c.893T>G; p.V298G; 23:154366826-154366826

breastcarcinomaSubstitution - Missense

c.3637G>A; p.G1213S; 23:154360158-154360158

skinmalignant_melanomaSubstitution - Missense

c.33C>T; p.S11S; 23:154371213-154371213

thyroidcarcinomaSubstitution - coding silent

c.1872C>T; p.D624D; 23:154364676-154364676

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1771G>A; p.V591I; 23:154364878-154364878

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1771G>A; p.V591I; 23:154364878-154364878

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4899C>T; p.R1633R; 23:154357480-154357480

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5437G>T; p.G1813C; 23:154354271-154354271

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3253C>T; p.P1085S; 23:154360542-154360542

skinmalignant_melanomaSubstitution - Missense


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