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

Basic Information

Gene ID

317

Name

APAF1

Synonymous

apoptotic peptidase activating factor 1;APAF1;apoptotic peptidase activating factor 1

Definition

apoptotic protease-activating factor 1

Position

12q23

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 0.16.

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.1387C>T; p.Q463*; 12:98667537-98667537

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2305-1G>T; p.?; 12:98699407-98699407

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.682C>T; p.R228C; 12:98659315-98659315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.437A>T; p.E146V; 12:98649595-98649595

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2304+2T>C; p.?; 12:98686875-98686875

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.247C>T; p.L83F; 12:98648734-98648734

 breastcarcinomaSubstitution - Missense

c.3159G>A; p.L1053L; 12:98723267-98723267

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1903G>A; p.A635T; 12:98677534-98677534

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.614G>A; p.R205Q; 12:98659247-98659247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.511C>T; p.H171Y; 12:98649669-98649669

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1406A>G; p.Q469R; 12:98667556-98667556

 livercarcinomaSubstitution - Missense

c.436G>A; p.E146K; 12:98649594-98649594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987A>G; p.A329A; 12:98665584-98665584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1840C>G; p.H614D; 12:98677471-98677471

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1748A>T; p.Q583L; 12:98671674-98671674

 oesophaguscarcinomaSubstitution - Missense

c.3017T>A; p.V1006E; 12:98715485-98715485

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3017T>A; p.V1006E; 12:98715485-98715485

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.534C>T; p.F178F; 12:98659167-98659167

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1301G>A; p.R434H; 12:98666296-98666296

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3441C>T; p.D1147D; 12:98725525-98725525

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1377G>A; p.K459K; 12:98667527-98667527

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1249G>A; p.E417K; 12:98666244-98666244

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2135A>G; p.H712R; 12:98683231-98683231

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946G>T; p.E316*; 12:98662797-98662797

 livercarcinomaSubstitution - Nonsense

c.1797_1798insA; p.N602fs*24; 12:98677428-98677429

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1812G>A; p.T604T; 12:98677443-98677443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1812G>A; p.T604T; 12:98677443-98677443

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2651G>A; p.W884*; 12:98706540-98706540

 large_intestine; colonadenomaSubstitution - Nonsense

c.1879G>C; p.G627R; 12:98677510-98677510

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.139-1G>A; p.?; 12:98648625-98648625

 livercarcinomaUnknown

c.1055G>T; p.R352I; 12:98665652-98665652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2689delT; p.L898fs*1; 12:98706578-98706578

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3601T>C; p.W1201R; 12:98732420-98732420

 skin; extremitymalignant_melanomaSubstitution - Missense

c.176T>C; p.M59T; 12:98648663-98648663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1455C>G; p.N485K; 12:98667605-98667605

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1939G>T; p.G647*; 12:98680295-98680295

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2829A>T; p.I943I; 12:98708692-98708692

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.574A>G; p.K192E; 12:98659207-98659207

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1195-5C>T; p.?; 12:98666185-98666185

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.1010G>A; p.R337H; 12:98665607-98665607

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.627T>C; p.D209D; 12:98659260-98659260

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2833C>T; p.R945C; 12:98708696-98708696

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.945A>T; p.K315N; 12:98662796-98662796

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1539A>C; p.K513N; 12:98671017-98671017

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3360T>C; p.L1120L; 12:98725444-98725444

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2207G>A; p.R736Q; 12:98686776-98686776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2207G>A; p.R736Q; 12:98686776-98686776

 pancreascarcinomaSubstitution - Missense

c.17G>A; p.R6Q; 12:98648376-98648376

 breastcarcinomaSubstitution - Missense

c.1731T>G; p.Y577*; 12:98671657-98671657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2207G>A; p.R736Q; 12:98686776-98686776

 pancreascarcinomaSubstitution - Missense

c.793A>G; p.R265G; 12:98662538-98662538

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1505C>A; p.A502D; 12:98670983-98670983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.425A>G; p.K142R; 12:98649583-98649583

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1798_1799delAA; p.N602fs*23; 12:98677429-98677430

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.676C>T; p.R226C; 12:98659309-98659309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2485A>T; p.S829C; 12:98703389-98703389

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.633delT; p.S213fs*18; 12:98659266-98659266

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.1086G>T; p.E362D; 12:98665683-98665683

 breastcarcinomaSubstitution - Missense

c.201C>A; p.S67S; 12:98648688-98648688

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.418C>T; p.L140F; 12:98649576-98649576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.575A>C; p.K192T; 12:98659208-98659208

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1608+1_1608+2insTA; p.?; 12:98671087-98671088

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.2474A>C; p.D825A; 12:98703378-98703378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3184T>C; p.S1062P; 12:98723292-98723292

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.177G>T; p.M59I; 12:98648664-98648664

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2127C>T; p.N709N; 12:98683223-98683223

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2595G>A; p.E865E; 12:98703499-98703499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.771G>A; p.Q257Q; 12:98662516-98662516

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.153A>T; p.Q51H; 12:98648640-98648640

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2316G>A; p.A772A; 12:98699419-98699419

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.92G>A; p.S31N; 12:98648451-98648451

 thyroidcarcinomaSubstitution - Missense

c.3001C>A; p.Q1001K; 12:98715469-98715469

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2316G>A; p.A772A; 12:98699419-98699419

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1975G>A; p.E659K; 12:98680331-98680331

 breastcarcinomaSubstitution - Missense

c.3135A>T; p.E1045D; 12:98723243-98723243

 livercarcinomaSubstitution - Missense

c.3135A>T; p.E1045D; 12:98723243-98723243

 livercarcinomaSubstitution - Missense

c.3191A>G; p.D1064G; 12:98723299-98723299

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2068G>A; p.E690K; 12:98683164-98683164

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1799A>G; p.K600R; 12:98677430-98677430

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2329G>T; p.E777*; 12:98699432-98699432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1309T>A; p.L437I; 12:98666304-98666304

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.139-10delT; p.?; 12:98648616-98648616

 stomachadenocarcinomaUnknown

c.2954T>G; p.I985S; 12:98712431-98712431

 livercarcinomaSubstitution - Missense

c.2800G>A; p.E934K; 12:98708663-98708663

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3224G>A; p.G1075E; 12:98723658-98723658

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.622C>T; p.Q208*; 12:98659255-98659255

 skinmalignant_melanomaSubstitution - Nonsense

c.3224G>A; p.G1075E; 12:98723658-98723658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1522G>A; p.D508N; 12:98671000-98671000

 skinmalignant_melanomaSubstitution - Missense

c.1435G>A; p.D479N; 12:98667585-98667585

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2262T>G; p.D754E; 12:98686831-98686831

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1265C>T; p.S422F; 12:98666260-98666260

 skinmalignant_melanomaSubstitution - Missense

c.676C>A; p.R226S; 12:98659309-98659309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2058T>C; p.S686S; 12:98683154-98683154

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1431G>T; p.Q477H; 12:98667581-98667581

 central_nervous_system; brainatypical_teratoid-rhabdoid_tumourSubstitution - Missense

c.2886T>C; p.A962A; 12:98712363-98712363

 skinmalignant_melanomaSubstitution - coding silent

c.1754A>G; p.K585R; 12:98671680-98671680

 bone; tibiachondrosarcomaSubstitution - Missense

c.3121C>A; p.R1041R; 12:98723229-98723229

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.392A>T; p.K131M; 12:98649550-98649550

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.392A>T; p.K131M; 12:98649550-98649550

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2115C>T; p.C705C; 12:98683211-98683211

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3040G>A; p.D1014N; 12:98715508-98715508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.515C>G; p.S172C; 12:98649673-98649673

 breastcarcinomaSubstitution - Missense

c.3673G>A; p.V1225M; 12:98732492-98732492

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3673G>A; p.V1225M; 12:98732492-98732492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2812C>T; p.L938F; 12:98708675-98708675

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1360C>G; p.Q454E; 12:98666355-98666355

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1917A>T; p.L639F; 12:98677548-98677548

 skinmalignant_melanomaSubstitution - Missense

c.437A>G; p.E146G; 12:98649595-98649595

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600G>T; p.Q200H; 12:98659233-98659233

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.437A>G; p.E146G; 12:98649595-98649595

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1062G>T; p.R354S; 12:98665659-98665659

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2121C>T; p.F707F; 12:98683217-98683217

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1232T>C; p.V411A; 12:98666227-98666227

 skinmalignant_melanomaSubstitution - Missense

c.239A>T; p.Y80F; 12:98648726-98648726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.13G>C; p.A5P; 12:98648372-98648372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.508G>T; p.D170Y; 12:98649666-98649666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.125A>T; p.K42I; 12:98648484-98648484

 livercarcinomaSubstitution - Missense

c.613C>A; p.R205R; 12:98659246-98659246

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1410G>A; p.P470P; 12:98667560-98667560

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1410G>A; p.P470P; 12:98667560-98667560

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1944G>C; p.E648D; 12:98680300-98680300

 pancreascarcinomaSubstitution - Missense

c.2250A>T; p.R750S; 12:98686819-98686819

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2114G>A; p.C705Y; 12:98683210-98683210

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1132G>T; p.D378Y; 12:98665729-98665729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1593T>C; p.H531H; 12:98671071-98671071

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.304T>G; p.S102A; 12:98648791-98648791

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3534C>A; p.G1178G; 12:98727250-98727250

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1071G>A; p.S357S; 12:98665668-98665668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2155G>A; p.G719R; 12:98683251-98683251

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3500C>T; p.P1167L; 12:98727216-98727216

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2358delC; p.F787fs*2; 12:98699461-98699461

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2658T>C; p.H886H; 12:98706547-98706547

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.59T>C; p.I20T; 12:98648418-98648418

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.59T>C; p.I20T; 12:98648418-98648418

 stomachadenocarcinomaSubstitution - Missense

c.438A>G; p.E146E; 12:98649596-98649596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2963T>C; p.L988S; 12:98715431-98715431

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.438A>G; p.E146E; 12:98649596-98649596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.438A>G; p.E146E; 12:98649596-98649596

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.438A>G; p.E146E; 12:98649596-98649596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2120T>C; p.F707S; 12:98683216-98683216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2038A>C; p.K680Q; 12:98680394-98680394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2339G>T; p.S780I; 12:98699442-98699442

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1798delA; p.N602fs*8; 12:98677429-98677429

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3127C>T; p.H1043Y; 12:98723235-98723235

 livercarcinomaSubstitution - Missense

c.3127C>T; p.H1043Y; 12:98723235-98723235

 livercarcinomaSubstitution - Missense

c.1798delA; p.N602fs*8; 12:98677429-98677429

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1798delA; p.N602fs*8; 12:98677429-98677429

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1798delA; p.N602fs*8; 12:98677429-98677429

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3331-1G>C; p.?; 12:98725414-98725414

 urinary_tract; bladdercarcinomaUnknown

c.2248A>G; p.R750G; 12:98686817-98686817

 livercarcinomaSubstitution - Missense

c.2794G>T; p.E932*; 12:98708657-98708657

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1997C>G; p.S666C; 12:98680353-98680353

 breastcarcinomaSubstitution - Missense

c.2510C>T; p.T837M; 12:98703414-98703414

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3649G>T; p.G1217*; 12:98732468-98732468

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1785G>A; p.L595L; 12:98671711-98671711

 breastcarcinomaSubstitution - coding silent

c.1646C>G; p.S549C; 12:98671572-98671572

 oesophaguscarcinomaSubstitution - Missense

c.392A>G; p.K131R; 12:98649550-98649550

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.392A>G; p.K131R; 12:98649550-98649550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.392A>G; p.K131R; 12:98649550-98649550

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.392A>G; p.K131R; 12:98649550-98649550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.392A>G; p.K131R; 12:98649550-98649550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2014A>G; p.I672V; 12:98680370-98680370

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.482C>G; p.S161C; 12:98649640-98649640

 breastcarcinomaSubstitution - Missense

c.149A>T; p.Q50L; 12:98648636-98648636

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.236G>T; p.G79V; 12:98648723-98648723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2057C>A; p.S686Y; 12:98683153-98683153

 breastcarcinomaSubstitution - Missense

c.135T>C; p.N45N; 12:98648494-98648494

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3615C>T; p.V1205V; 12:98732434-98732434

 skinmalignant_melanomaSubstitution - coding silent

c.2674C>T; p.P892S; 12:98706563-98706563

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2365A>T; p.N789Y; 12:98699468-98699468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1357C>T; p.L453F; 12:98666352-98666352

 skinmalignant_melanomaSubstitution - Missense

c.2021C>T; p.T674I; 12:98680377-98680377

 skinmalignant_melanomaSubstitution - Missense

c.2773G>T; p.E925*; 12:98708636-98708636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2316delG; p.T773fs*11; 12:98699419-98699419

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.1396A>T; p.R466*; 12:98667546-98667546

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.3381C>T; p.N1127N; 12:98725465-98725465

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1655G>A; p.G552E; 12:98671581-98671581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2111G>A; p.C704Y; 12:98683207-98683207

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.796G>T; p.D266Y; 12:98662541-98662541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2200G>T; p.E734*; 12:98686769-98686769

 breastcarcinomaSubstitution - Nonsense

c.2156G>A; p.G719E; 12:98683252-98683252

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1436A>G; p.D479G; 12:98667586-98667586

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2156G>A; p.G719E; 12:98683252-98683252

 livercarcinomaSubstitution - Missense

c.1712C>T; p.P571L; 12:98671638-98671638

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2615G>A; p.R872H; 12:98706504-98706504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2615G>A; p.R872H; 12:98706504-98706504

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2305-2A>C; p.?; 12:98699406-98699406

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1966C>T; p.H656Y; 12:98680322-98680322

 breastcarcinomaSubstitution - Missense

c.3679C>T; p.P1227S; 12:98732498-98732498

 prostatecarcinomaSubstitution - Missense

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