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

Basic Information

Gene ID

8434

Name

RECK

Synonymous

reversion-inducing-cysteine-rich protein with kazal motifs;RECK;reversion-inducing-cysteine-rich protein with kazal motifs

Definition

membrane-anchored glycoprotein (metastasis and invasion)|reversion-inducing cysteine-rich protein with Kazal motifs|suppression of tumorigenicity 15 (reversion-inducing-cysteine-rich protein with kazal motifs)|suppression of tumorigenicity 5 (reversion-in

Position

9p13.3

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 0.22.

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.2528C>A; p.T843N; 9:36120726-36120726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2462C>G; p.P821R; 9:36118965-36118965

 thyroidcarcinomaSubstitution - Missense

c.185G>A; p.R62Q; 9:36058852-36058852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2031T>C; p.C677C; 9:36112447-36112447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1086-1G>T; p.?; 9:36100330-36100330

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1779C>A; p.S593S; 9:36109970-36109970

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.340C>T; p.R114*; 9:36063863-36063863

 breastcarcinomaSubstitution - Nonsense

c.1935G>C; p.Q645H; 9:36112351-36112351

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2278G>A; p.V760I; 9:36118781-36118781

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1526G>A; p.R509Q; 9:36105233-36105233

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1526G>A; p.R509Q; 9:36105233-36105233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.817C>T; p.P273S; 9:36087873-36087873

 thyroidother; neoplasmSubstitution - Missense

c.2579A>G; p.Q860R; 9:36121573-36121573

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1431C>A; p.Y477*; 9:36102226-36102226

 central_nervous_system; braingliomaSubstitution - Nonsense

c.755C>T; p.T252I; 9:36087811-36087811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.160-1G>T; p.?; 9:36058826-36058826

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.210C>T; p.A70A; 9:36058877-36058877

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.263C>G; p.S88C; 9:36060147-36060147

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1538C>T; p.P513L; 9:36105245-36105245

 skinmalignant_melanomaSubstitution - Missense

c.1882T>C; p.F628L; 9:36110073-36110073

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.263C>G; p.S88C; 9:36060147-36060147

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2785C>G; p.L929V; 9:36122914-36122914

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2452A>C; p.I818L; 9:36118955-36118955

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2142C>T; p.L714L; 9:36117066-36117066

 skinmalignant_melanomaSubstitution - coding silent

c.2463G>A; p.P821P; 9:36118966-36118966

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.929G>A; p.S310N; 9:36091187-36091187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.559T>G; p.C187G; 9:36083484-36083484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2655C>T; p.I885I; 9:36121649-36121649

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.561C>T; p.C187C; 9:36083486-36083486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2667C>T; p.P889P; 9:36121661-36121661

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1347C>T; p.F449F; 9:36102142-36102142

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1093G>T; p.E365*; 9:36100338-36100338

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1093G>T; p.E365*; 9:36100338-36100338

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1320_1321insA; p.C443fs*9; 9:36102115-36102116

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.268C>T; p.P90S; 9:36060152-36060152

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2127T>C; p.C709C; 9:36117051-36117051

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2255C>T; p.P752L; 9:36118758-36118758

 skinmalignant_melanomaSubstitution - Missense

c.2145G>A; p.A715A; 9:36117069-36117069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2332C>T; p.R778C; 9:36118835-36118835

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.708G>T; p.K236N; 9:36087764-36087764

 breastcarcinomaSubstitution - Missense

c.1064_1067delACTG; p.Y355fs*24; 9:36091322-36091325

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1933C>T; p.Q645*; 9:36112349-36112349

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1086G>A; p.R362R; 9:36100331-36100331

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1129G>A; p.G377R; 9:36100374-36100374

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.2539G>T; p.V847L; 9:36121533-36121533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.406-1G>A; p.?; 9:36080604-36080604

 skinmalignant_melanomaUnknown

c.1417C>T; p.P473S; 9:36102212-36102212

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.E456K; 9:36102161-36102161

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1373T>A; p.I458N; 9:36102168-36102168

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2318C>T; p.A773V; 9:36118821-36118821

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2318C>T; p.A773V; 9:36118821-36118821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1875T>A; p.R625R; 9:36110066-36110066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2562A>G; p.T854T; 9:36121556-36121556

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2826G>T; p.S942S; 9:36122955-36122955

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2562A>G; p.T854T; 9:36121556-36121556

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1875T>A; p.R625R; 9:36110066-36110066

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1766-1G>T; p.?; 9:36109956-36109956

 lungcarcinoma; adenocarcinomaUnknown

c.2152C>T; p.Q718*; 9:36117076-36117076

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2272G>A; p.E758K; 9:36118775-36118775

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1560A>G; p.P520P; 9:36105267-36105267

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1852G>A; p.E618K; 9:36110043-36110043

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1560A>G; p.P520P; 9:36105267-36105267

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1613G>A; p.R538H; 9:36108012-36108012

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1613G>A; p.R538H; 9:36108012-36108012

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2772C>T; p.V924V; 9:36122901-36122901

 skinmalignant_melanomaSubstitution - coding silent

c.347C>T; p.A116V; 9:36063870-36063870

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2564T>G; p.V855G; 9:36121558-36121558

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2200C>T; p.L734F; 9:36117124-36117124

 skinmalignant_melanomaSubstitution - Missense

c.2143G>A; p.A715T; 9:36117067-36117067

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2143G>A; p.A715T; 9:36117067-36117067

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>T; p.I395I; 9:36100430-36100430

 skinmalignant_melanomaSubstitution - coding silent

c.2222G>T; p.G741V; 9:36117146-36117146

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1533A>G; p.G511G; 9:36105240-36105240

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2794T>G; p.S932A; 9:36122923-36122923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2149G>C; p.D717H; 9:36117073-36117073

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2149G>C; p.D717H; 9:36117073-36117073

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1277C>A; p.S426Y; 9:36100522-36100522

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2520A>C; p.K840N; 9:36120718-36120718

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2671G>A; p.D891N; 9:36121665-36121665

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1002C>T; p.S334S; 9:36091260-36091260

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1002C>T; p.S334S; 9:36091260-36091260

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2671G>A; p.D891N; 9:36121665-36121665

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.Q193*; 9:36083502-36083502

 ovarycarcinomaSubstitution - Nonsense

c.2310T>G; p.S770R; 9:36118813-36118813

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.R657H; 9:36112386-36112386

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.248A>G; p.N83S; 9:36060132-36060132

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.509G>A; p.R170Q; 9:36083434-36083434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2393C>T; p.S798F; 9:36118896-36118896

 skinmalignant_melanomaSubstitution - Missense

c.1838G>A; p.R613H; 9:36110029-36110029

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2294G>T; p.G765V; 9:36118797-36118797

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1655T>C; p.V552A; 9:36108054-36108054

 skinmalignant_melanomaSubstitution - Missense

c.2184C>T; p.H728H; 9:36117108-36117108

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.616C>T; p.P206S; 9:36083541-36083541

 skinmalignant_melanomaSubstitution - Missense

c.2394C>G; p.S798S; 9:36118897-36118897

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.500C>T; p.A167V; 9:36083425-36083425

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2161G>C; p.D721H; 9:36117085-36117085

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2161G>C; p.D721H; 9:36117085-36117085

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2279T>A; p.V760E; 9:36118782-36118782

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1994A>T; p.Q665L; 9:36112410-36112410

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.524C>T; p.P175L; 9:36083449-36083449

 skinmalignant_melanomaSubstitution - Missense

c.823G>C; p.V275L; 9:36087879-36087879

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.551A>G; p.E184G; 9:36083476-36083476

 skinmalignant_melanomaSubstitution - Missense

c.2775T>C; p.P925P; 9:36122904-36122904

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2096T>C; p.F699S; 9:36117020-36117020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.544G>A; p.A182T; 9:36083469-36083469

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.544G>A; p.A182T; 9:36083469-36083469

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.544G>A; p.A182T; 9:36083469-36083469

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1494_1496delTTG; p.C499delC; 9:36105201-36105203

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.1494_1496delTTG; p.C499delC; 9:36105201-36105203

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.1494_1496delTTG; p.C499delC; 9:36105201-36105203

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.2596G>A; p.V866M; 9:36121590-36121590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2662A>G; p.I888V; 9:36121656-36121656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1955G>A; p.S652N; 9:36112371-36112371

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1588G>A; p.G530R; 9:36107987-36107987

 livercarcinomaSubstitution - Missense

c.1019C>A; p.A340E; 9:36091277-36091277

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1311G>T; p.V437V; 9:36102106-36102106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2777T>A; p.L926H; 9:36122906-36122906

 skinmalignant_melanomaSubstitution - Missense

c.517T>A; p.S173T; 9:36083442-36083442

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.725T>C; p.I242T; 9:36087781-36087781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184C>A; p.R62R; 9:36058851-36058851

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.953G>T; p.S318I; 9:36091211-36091211

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.850G>T; p.G284C; 9:36087906-36087906

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.840T>C; p.P280P; 9:36087896-36087896

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2416A>G; p.K806E; 9:36118919-36118919

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1354G>A; p.D452N; 9:36102149-36102149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2109A>T; p.G703G; 9:36117033-36117033

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.816C>A; p.H272Q; 9:36087872-36087872

 thyroidother; neoplasmSubstitution - Missense

c.562G>A; p.A188T; 9:36083487-36083487

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2534C>T; p.A845V; 9:36120732-36120732

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2595C>T; p.H865H; 9:36121589-36121589

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.775C>T; p.P259S; 9:36087831-36087831

 skinmalignant_melanomaSubstitution - Missense

c.322G>C; p.A108P; 9:36063845-36063845

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1313A>T; p.E438V; 9:36102108-36102108

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2587C>T; p.R863C; 9:36121581-36121581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2370C>T; p.V790V; 9:36118873-36118873

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1837C>G; p.R613G; 9:36110028-36110028

 skinmalignant_melanomaSubstitution - Missense

c.1770T>A; p.H590Q; 9:36109961-36109961

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1766-7C>A; p.?; 9:36109950-36109950

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.741C>T; p.I247I; 9:36087797-36087797

 skinmalignant_melanomaSubstitution - coding silent

c.2154G>T; p.Q718H; 9:36117078-36117078

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2048delA; p.N685fs*12; 9:36112464-36112464

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2048delA; p.N685fs*12; 9:36112464-36112464

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2048delA; p.N685fs*12; 9:36112464-36112464

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2308_2309insGT; p.A773fs*61; 9:36118811-36118812

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.2048delA; p.N685fs*12; 9:36112464-36112464

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1057_1060delCTTA; p.Y355fs*24; 9:36091315-36091318

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2503T>G; p.L835V; 9:36120701-36120701

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.817C>A; p.P273T; 9:36087873-36087873

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2398G>T; p.A800S; 9:36118901-36118901

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2670C>T; p.V890V; 9:36121664-36121664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2015T>C; p.M672T; 9:36112431-36112431

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2670C>T; p.V890V; 9:36121664-36121664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.147T>C; p.D49D; 9:36052311-36052311

 breastcarcinomaSubstitution - coding silent

c.950_951delAG; p.S318fs*5; 9:36091208-36091209

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815A>G; p.H272R; 9:36087871-36087871

 thyroidother; neoplasmSubstitution - Missense

c.316G>A; p.E106K; 9:36063839-36063839

 pancreascarcinomaSubstitution - Missense

c.316G>A; p.E106K; 9:36063839-36063839

 pancreascarcinomaSubstitution - Missense

c.1197T>G; p.V399V; 9:36100442-36100442

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1371T>C; p.S457S; 9:36102166-36102166

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.459T>C; p.S153S; 9:36083384-36083384

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1731C>T; p.L577L; 9:36108130-36108130

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2409T>G; p.A803A; 9:36118912-36118912

 livercarcinomaSubstitution - coding silent

c.1351G>A; p.E451K; 9:36102146-36102146

 skinmalignant_melanomaSubstitution - Missense

c.514G>C; p.D172H; 9:36083439-36083439

 skinmalignant_melanomaSubstitution - Missense

c.778C>T; p.L260F; 9:36087834-36087834

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.809C>T; p.S270F; 9:36087865-36087865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1291A>G; p.I431V; 9:36100536-36100536

 breastcarcinomaSubstitution - Missense

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