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

Basic Information

Gene ID

84911

Name

ZNF382

Synonymous

zinc finger protein 382;ZNF382;zinc finger protein 382

Definition

KRAB/zinc finger suppressor protein 1|multiple zinc finger and krueppel-associated box protein KS1

Position

19q13.12

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.10.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1286C>A; p.T429N; 19:36627183-36627183

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.665T>C; p.L222P; 19:36626562-36626562

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.78T>G; p.P26P; 19:36609992-36609992

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.665T>C; p.L222P; 19:36626562-36626562

 stomachadenocarcinomaSubstitution - Missense

c.775C>T; p.P259S; 19:36626672-36626672

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1526G>T; p.R509L; 19:36627423-36627423

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1526G>T; p.R509L; 19:36627423-36627423

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1521C>T; p.L507L; 19:36627418-36627418

 skinmalignant_melanomaSubstitution - coding silent

c.1521C>T; p.L507L; 19:36627418-36627418

 skinmalignant_melanomaSubstitution - coding silent

c.1185C>T; p.L395L; 19:36627082-36627082

 skinmalignant_melanomaSubstitution - coding silent

c.463A>G; p.S155G; 19:36626360-36626360

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1362C>A; p.H454Q; 19:36627259-36627259

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1252A>C; p.I418L; 19:36627149-36627149

 skinmalignant_melanomaSubstitution - Missense

c.82C>G; p.Q28E; 19:36609996-36609996

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1388C>T; p.P463L; 19:36627285-36627285

 skinmalignant_melanomaSubstitution - Missense

c.537T>G; p.I179M; 19:36626434-36626434

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.296G>T; p.R99I; 19:36626193-36626193

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.430delA; p.N145fs*5; 19:36626327-36626327

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1221G>A; p.P407P; 19:36627118-36627118

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.324A>C; p.K108N; 19:36626221-36626221

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.192G>A; p.E64E; 19:36610702-36610702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1220C>T; p.P407L; 19:36627117-36627117

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1220C>T; p.P407L; 19:36627117-36627117

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.933C>T; p.L311L; 19:36626830-36626830

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.831C>T; p.L277L; 19:36626728-36626728

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1377G>T; p.T459T; 19:36627274-36627274

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.859C>G; p.Q287E; 19:36626756-36626756

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.859C>G; p.Q287E; 19:36626756-36626756

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.1509G>A; p.R503R; 19:36627406-36627406

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1045G>A; p.G349R; 19:36626942-36626942

 livercarcinomaSubstitution - Missense

c.1509G>A; p.R503R; 19:36627406-36627406

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.183A>G; p.Q61Q; 19:36610693-36610693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.914T>C; p.F305S; 19:36626811-36626811

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.229C>T; p.L77L; 19:36610739-36610739

 skinmalignant_melanomaSubstitution - coding silent

c.23C>T; p.S8L; 19:36609937-36609937

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.23C>T; p.S8L; 19:36609937-36609937

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.12G>A; p.Q4Q; 19:36609926-36609926

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1465G>T; p.E489*; 19:36627362-36627362

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.681A>G; p.L227L; 19:36626578-36626578

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.751G>T; p.E251*; 19:36626648-36626648

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.751G>T; p.E251*; 19:36626648-36626648

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1641G>A; p.T547T; 19:36627538-36627538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.857C>A; p.P286H; 19:36626754-36626754

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1000C>T; p.R334C; 19:36626897-36626897

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.G376R; 19:36627023-36627023

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1376_1377insG; p.E461fs*7; 19:36627273-36627274

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.725A>G; p.Y242C; 19:36626622-36626622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1013C>T; p.A338V; 19:36626910-36626910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736G>A; p.G246R; 19:36626633-36626633

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1129G>A; p.E377K; 19:36627026-36627026

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>T; p.R456I; 19:36627264-36627264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1367G>T; p.R456I; 19:36627264-36627264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1367G>T; p.R456I; 19:36627264-36627264

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>T; p.R456I; 19:36627264-36627264

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>T; p.R456I; 19:36627264-36627264

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.858T>G; p.P286P; 19:36626755-36626755

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.89C>T; p.A30V; 19:36610003-36610003

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1309A>G; p.I437V; 19:36627206-36627206

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.577C>A; p.L193I; 19:36626474-36626474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.879G>C; p.E293D; 19:36626776-36626776

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.571A>G; p.R191G; 19:36626468-36626468

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.504G>T; p.E168D; 19:36626401-36626401

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.467C>A; p.P156H; 19:36626364-36626364

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1299G>T; p.E433D; 19:36627196-36627196

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946C>T; p.R316*; 19:36626843-36626843

 large_intestine; colonadenomaSubstitution - Nonsense

c.1203T>C; p.T401T; 19:36627100-36627100

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.522C>G; p.T174T; 19:36626419-36626419

 breastcarcinomaSubstitution - coding silent

c.522C>G; p.T174T; 19:36626419-36626419

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1499C>A; p.A500D; 19:36627396-36627396

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1505G>C; p.S502T; 19:36627402-36627402

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1372C>A; p.H458N; 19:36627269-36627269

 pancreascarcinomaSubstitution - Missense

c.485G>C; p.G162A; 19:36626382-36626382

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1479G>A; p.G493G; 19:36627376-36627376

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.665T>G; p.L222R; 19:36626562-36626562

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.380G>A; p.R127H; 19:36626277-36626277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.S220S; 19:36626557-36626557

 pancreascarcinomaSubstitution - coding silent

c.806delC; p.Y270fs*78; 19:36626703-36626703

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.601C>T; p.Q201*; 19:36626498-36626498

 skin; extremitymalignant_melanomaSubstitution - Nonsense

c.763C>T; p.L255F; 19:36626660-36626660

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.380G>A; p.R127H; 19:36626277-36626277

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.861G>A; p.Q287Q; 19:36626758-36626758

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1549G>A; p.E517K; 19:36627446-36627446

 skinmalignant_melanomaSubstitution - Missense

c.140-6C>T; p.?; 19:36610644-36610644

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.62G>A; p.W21*; 19:36609976-36609976

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1118C>A; p.T373K; 19:36627015-36627015

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.375G>T; p.K125N; 19:36626272-36626272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1107A>G; p.R369R; 19:36627004-36627004

 oesophaguscarcinomaSubstitution - coding silent

c.1276C>T; p.H426Y; 19:36627173-36627173

 breastcarcinomaSubstitution - Missense

c.1276C>T; p.H426Y; 19:36627173-36627173

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1471T>G; p.S491A; 19:36627368-36627368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.103G>A; p.V35M; 19:36610017-36610017

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1326G>A; p.G442G; 19:36627223-36627223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1326G>A; p.G442G; 19:36627223-36627223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1451G>A; p.R484K; 19:36627348-36627348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.309C>T; p.F103F; 19:36626206-36626206

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1175A>C; p.K392T; 19:36627072-36627072

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1283G>T; p.R428I; 19:36627180-36627180

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1283G>T; p.R428I; 19:36627180-36627180

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1377delG; p.E461fs*84; 19:36627274-36627274

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.628C>A; p.Q210K; 19:36626525-36626525

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1069T>A; p.C357S; 19:36626966-36626966

 skinmalignant_melanomaSubstitution - Missense

c.1008G>A; p.K336K; 19:36626905-36626905

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1250T>C; p.F417S; 19:36627147-36627147

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.713G>T; p.R238I; 19:36626610-36626610

 breastcarcinomaSubstitution - Missense

c.713G>T; p.R238I; 19:36626610-36626610

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 19:36626844-36626844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 19:36626844-36626844

 breastcarcinomaSubstitution - Missense

c.1547G>A; p.G516D; 19:36627444-36627444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876A>C; p.E292D; 19:36626773-36626773

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.833G>T; p.C278F; 19:36626730-36626730

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.848T>G; p.F283C; 19:36626745-36626745

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.274G>T; p.E92*; 19:36626171-36626171

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.857C>T; p.P286L; 19:36626754-36626754

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1640C>T; p.T547M; 19:36627537-36627537

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.F43F; 19:36610043-36610043

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1199G>A; p.R400K; 19:36627096-36627096

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1640C>T; p.T547M; 19:36627537-36627537

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.78T>C; p.P26P; 19:36609992-36609992

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1065C>T; p.I355I; 19:36626962-36626962

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1042G>T; p.E348*; 19:36626939-36626939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1622C>T; p.T541I; 19:36627519-36627519

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.635T>C; p.F212S; 19:36626532-36626532

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.815A>C; p.K272T; 19:36626712-36626712

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.828C>T; p.F276F; 19:36626725-36626725

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.268T>A; p.F90I; 19:36626165-36626165

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1421G>A; p.R474H; 19:36627318-36627318

 livercarcinomaSubstitution - Missense

c.1421G>A; p.R474H; 19:36627318-36627318

 livercarcinomaSubstitution - Missense

c.547G>A; p.V183M; 19:36626444-36626444

 pancreascarcinomaSubstitution - Missense

c.890A>G; p.H297R; 19:36626787-36626787

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.90G>A; p.A30A; 19:36610004-36610004

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.293C>T; p.S98F; 19:36626190-36626190

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1001G>A; p.R334H; 19:36626898-36626898

 prostatecarcinomaSubstitution - Missense

c.1253T>G; p.I418S; 19:36627150-36627150

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1253T>G; p.I418S; 19:36627150-36627150

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.785T>G; p.L262R; 19:36626682-36626682

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1478G>A; p.G493E; 19:36627375-36627375

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1338C>T; p.C446C; 19:36627235-36627235

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.744C>A; p.A248A; 19:36626641-36626641

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1052C>A; p.P351H; 19:36626949-36626949

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.103G>T; p.V35L; 19:36610017-36610017

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.863G>T; p.R288I; 19:36626760-36626760

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1105A>T; p.R369*; 19:36627002-36627002

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.752A>G; p.E251G; 19:36626649-36626649

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.503A>G; p.E168G; 19:36626400-36626400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1105A>T; p.R369*; 19:36627002-36627002

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.110T>C; p.L37S; 19:36610024-36610024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1382A>G; p.E461G; 19:36627279-36627279

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.145C>T; p.H49Y; 19:36610655-36610655

 skinmalignant_melanomaSubstitution - Missense

c.914T>A; p.F305Y; 19:36626811-36626811

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.105G>A; p.V35V; 19:36610019-36610019

 prostatecarcinomaSubstitution - coding silent

c.1607T>C; p.I536T; 19:36627504-36627504

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1397G>T; p.C466F; 19:36627294-36627294

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.326T>G; p.L109R; 19:36626223-36626223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1377G>A; p.T459T; 19:36627274-36627274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.425T>A; p.V142D; 19:36626322-36626322

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.82C>T; p.Q28*; 19:36609996-36609996

 skinmalignant_melanomaSubstitution - Nonsense

c.1084C>T; p.R362C; 19:36626981-36626981

 pancreascarcinomaSubstitution - Missense

c.241G>T; p.G81W; 19:36626138-36626138

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1416C>T; p.S472S; 19:36627313-36627313

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.206G>T; p.R69I; 19:36610716-36610716

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.206G>T; p.R69I; 19:36610716-36610716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.479A>C; p.K160T; 19:36626376-36626376

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.130G>A; p.V44I; 19:36610044-36610044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.338G>T; p.R113I; 19:36626235-36626235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151G>A; p.A51T; 19:36610661-36610661

 skinmalignant_melanomaSubstitution - Missense

c.824A>G; p.K275R; 19:36626721-36626721

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928_935delTACCTCAT; p.Y310fs*1; 19:36626825-36626832

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.367C>A; p.L123I; 19:36626264-36626264

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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