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

Basic Information

Gene ID

4486

Name

MST1R

Synonymous

macrophage stimulating 1 receptor;MST1R;macrophage stimulating 1 receptor

Definition

MSP receptor|MST1R variant RON30|MST1R variant RON62|PTK8 protein tyrosine kinase 8|RON variant 21|RON variant E2E3|c-met-related tyrosine kinase|macrophage stimulating 1 receptor (c-met-related tyrosine kinase)|macrophage-stimulating protein receptor|p18

Position

3p21.3

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 0.10.

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.1548G>T; p.Q516H; 3:49898867-49898867

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3696C>T; p.D1232D; 3:49890599-49890599

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1980_1981delTA; p.N661fs*44; 3:49897585-49897586

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.3691C>T; p.R1231C; 3:49890604-49890604

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1182C>T; p.L394L; 3:49902428-49902428

skinmalignant_melanomaSubstitution - coding silent

c.199G>A; p.E67K; 3:49903411-49903411

breastcarcinomaSubstitution - Missense

c.1259C>T; p.T420I; 3:49899235-49899235

skinmalignant_melanomaSubstitution - Missense

c.3499G>A; p.G1167S; 3:49891434-49891434

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2929G>T; p.V977F; 3:49895748-49895748

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1488G>A; p.Q496Q; 3:49898927-49898927

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1419+10C>T; p.?; 3:49899065-49899065

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.3610T>G; p.F1204V; 3:49891231-49891231

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.4172G>A; p.R1391Q; 3:49887338-49887338

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1492G>A; p.V498M; 3:49898923-49898923

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2697C>T; p.T899T; 3:49896060-49896060

skinmalignant_melanomaSubstitution - coding silent

c.923G>A; p.R308H; 3:49902687-49902687

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1735G>T; p.G579*; 3:49898196-49898196

thyroidother; neoplasmSubstitution - Nonsense

c.115G>T; p.D39Y; 3:49903495-49903495

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1163C>T; p.S388F; 3:49902447-49902447

skinmalignant_melanomaSubstitution - Missense

c.2918C>T; p.A973V; 3:49895759-49895759

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.560C>A; p.T187N; 3:49903050-49903050

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.418C>T; p.Q140*; 3:49903192-49903192

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.418C>T; p.Q140*; 3:49903192-49903192

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.619G>A; p.V207M; 3:49902991-49902991

breastcarcinomaSubstitution - Missense

c.4166G>A; p.R1389Q; 3:49887344-49887344

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3782C>T; p.T1261I; 3:49890513-49890513

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1964T>A; p.V655D; 3:49897602-49897602

ovaryother; neoplasmSubstitution - Missense

c.2650-1G>A; p.?; 3:49896108-49896108

thyroidcarcinomaUnknown

c.1091C>A; p.S364Y; 3:49902519-49902519

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3651C>T; p.D1217D; 3:49890644-49890644

livercarcinomaSubstitution - coding silent

c.3651C>T; p.D1217D; 3:49890644-49890644

livercarcinomaSubstitution - coding silent

c.1091C>A; p.S364Y; 3:49902519-49902519

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3699C>T; p.I1233I; 3:49890596-49890596

skinmalignant_melanomaSubstitution - coding silent

c.2427A>T; p.A809A; 3:49896552-49896552

large_intestine; rectumNSSubstitution - coding silent

c.206C>A; p.A69D; 3:49903404-49903404

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4104G>C; p.S1368S; 3:49887406-49887406

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.4198A>T; p.T1400S; 3:49887312-49887312

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4094C>A; p.P1365H; 3:49887416-49887416

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.741T>C; p.I247I; 3:49902869-49902869

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3500G>A; p.G1167D; 3:49891433-49891433

skinmalignant_melanomaSubstitution - Missense

c.3992G>A; p.R1331Q; 3:49887518-49887518

skinmalignant_melanomaSubstitution - Missense

c.1880+2T>C; p.?; 3:49898049-49898049

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1818C>T; p.T606T; 3:49898113-49898113

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.4004G>T; p.R1335I; 3:49887506-49887506

livercarcinomaSubstitution - Missense

c.2431G>A; p.E811K; 3:49896548-49896548

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2182C>T; p.R728W; 3:49897281-49897281

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3901G>A; p.A1301T; 3:49889970-49889970

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3901G>A; p.A1301T; 3:49889970-49889970

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3898C>T; p.L1300L; 3:49889973-49889973

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2859C>T; p.V953V; 3:49895818-49895818

skinmalignant_melanomaSubstitution - coding silent

c.3883G>C; p.D1295H; 3:49889988-49889988

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2595A>C; p.P865P; 3:49896249-49896249

breastcarcinomaSubstitution - coding silent

c.101A>C; p.Y34S; 3:49903509-49903509

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2014G>A; p.G672S; 3:49897552-49897552

breastcarcinomaSubstitution - Missense

c.3321T>G; p.N1107K; 3:49891789-49891789

skinmalignant_melanomaSubstitution - Missense

c.1279C>T; p.L427L; 3:49899215-49899215

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2015G>A; p.G672D; 3:49897551-49897551

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.346G>T; p.G116C; 3:49903264-49903264

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1632C>A; p.G544G; 3:49898605-49898605

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2604C>A; p.A868A; 3:49896240-49896240

skinmalignant_melanomaSubstitution - coding silent

c.1632C>A; p.G544G; 3:49898605-49898605

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3996C>T; p.P1332P; 3:49887514-49887514

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1892G>A; p.R631Q; 3:49897674-49897674

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3528T>A; p.P1176P; 3:49891405-49891405

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2520G>A; p.G840G; 3:49896324-49896324

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.303C>T; p.C101C; 3:49903307-49903307

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3187G>A; p.D1063N; 3:49895251-49895251

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3187G>A; p.D1063N; 3:49895251-49895251

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.3897C>T; p.F1299F; 3:49889974-49889974

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3705C>G; p.D1235E; 3:49890590-49890590

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3288C>T; p.V1096V; 3:49891822-49891822

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1499G>A; p.R500Q; 3:49898916-49898916

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2445G>C; p.E815D; 3:49896399-49896399

breastcarcinomaSubstitution - Missense

c.1540G>C; p.G514R; 3:49898875-49898875

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2057T>C; p.L686P; 3:49897406-49897406

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2620A>G; p.K874E; 3:49896224-49896224

oesophaguscarcinomaSubstitution - Missense

c.3603G>A; p.E1201E; 3:49891238-49891238

skinmalignant_melanomaSubstitution - coding silent

c.2797G>A; p.V933I; 3:49895880-49895880

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3743G>A; p.R1248H; 3:49890552-49890552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>T; p.V366V; 3:49902512-49902512

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.479C>T; p.P160L; 3:49903131-49903131

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4134G>C; p.P1378P; 3:49887376-49887376

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1390A>G; p.M464V; 3:49899104-49899104

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3644+7G>A; p.?; 3:49891190-49891190

ovaryother; neoplasmUnknown

c.3948-8C>T; p.?; 3:49887570-49887570

livercarcinomaUnknown

c.1390A>G; p.M464V; 3:49899104-49899104

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3644+7G>A; p.?; 3:49891190-49891190

ovaryother; neoplasmUnknown

c.3948-8C>T; p.?; 3:49887570-49887570

livercarcinomaUnknown

c.3561_3562insT; p.G1189fs*38; 3:49891279-49891280

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.594C>T; p.Y198Y; 3:49903016-49903016

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2727C>T; p.F909F; 3:49896030-49896030

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4103C>T; p.S1368L; 3:49887407-49887407

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.167A>G; p.Q56R; 3:49903443-49903443

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.189C>T; p.G63G; 3:49903421-49903421

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2665G>A; p.A889T; 3:49896092-49896092

urinary_tract; bladdercarcinomaSubstitution - Missense

c.189C>T; p.G63G; 3:49903421-49903421

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2557A>G; p.T853A; 3:49896287-49896287

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3339C>G; p.I1113M; 3:49891771-49891771

urinary_tract; bladdercarcinomaSubstitution - Missense

c.849T>C; p.L283L; 3:49902761-49902761

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1771G>T; p.G591C; 3:49898160-49898160

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3742C>T; p.R1248C; 3:49890553-49890553

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.849T>C; p.L283L; 3:49902761-49902761

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2495G>A; p.R832Q; 3:49896349-49896349

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3621G>C; p.R1207S; 3:49891220-49891220

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3884A>G; p.D1295G; 3:49889987-49889987

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1078G>A; p.V360M; 3:49902532-49902532

livercarcinomaSubstitution - Missense

c.3793A>G; p.T1265A; 3:49890502-49890502

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1078G>A; p.V360M; 3:49902532-49902532

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.474delA; p.A159fs*28; 3:49903136-49903136

stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.1135G>A; p.D379N; 3:49902475-49902475

breastcarcinomaSubstitution - Missense

c.562G>A; p.V188M; 3:49903048-49903048

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1719+1G>A; p.?; 3:49898517-49898517

lungcarcinoma; squamous_cell_carcinomaUnknown

c.163G>C; p.V55L; 3:49903447-49903447

breastcarcinomaSubstitution - Missense

c.1408C>T; p.R470C; 3:49899086-49899086

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1408C>T; p.R470C; 3:49899086-49899086

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3866G>A; p.R1289H; 3:49890005-49890005

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.695T>A; p.F232Y; 3:49902915-49902915

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3361G>T; p.E1121*; 3:49891572-49891572

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2484A>C; p.E828D; 3:49896360-49896360

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.433C>T; p.L145L; 3:49903177-49903177

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.433C>T; p.L145L; 3:49903177-49903177

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.3260T>G; p.V1087G; 3:49895178-49895178

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1275C>T; p.F425F; 3:49899219-49899219

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.500A>C; p.H167P; 3:49903110-49903110

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3212A>G; p.K1071R; 3:49895226-49895226

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.3192T>C; p.S1064S; 3:49895246-49895246

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2847G>T; p.G949G; 3:49895830-49895830

skinmalignant_melanomaSubstitution - coding silent

c.3140C>T; p.S1047F; 3:49895298-49895298

skinmalignant_melanomaSubstitution - Missense

c.3122C>T; p.S1041F; 3:49895316-49895316

skinmalignant_melanomaSubstitution - Missense

c.1722C>T; p.F574F; 3:49898209-49898209

skinmalignant_melanomaSubstitution - coding silent

c.1658G>A; p.G553D; 3:49898579-49898579

ovaryother; neoplasmSubstitution - Missense

c.2563C>T; p.P855S; 3:49896281-49896281

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1915G>C; p.E639Q; 3:49897651-49897651

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.392C>T; p.A131V; 3:49903218-49903218

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2534G>A; p.R845Q; 3:49896310-49896310

breastcarcinomaSubstitution - Missense

c.2668G>A; p.V890M; 3:49896089-49896089

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.206C>T; p.A69V; 3:49903404-49903404

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1603C>T; p.R535C; 3:49898634-49898634

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3556A>T; p.I1186F; 3:49891285-49891285

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1568A>G; p.Q523R; 3:49898669-49898669

skinmalignant_melanomaSubstitution - Missense

c.1844C>T; p.P615L; 3:49898087-49898087

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3708G>A; p.R1236R; 3:49890587-49890587

skinmalignant_melanomaSubstitution - coding silent

c.1549G>A; p.V517I; 3:49898688-49898688

pancreascarcinomaSubstitution - Missense

c.2841G>A; p.R947R; 3:49895836-49895836

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.958G>T; p.V320L; 3:49902652-49902652

prostatecarcinomaSubstitution - Missense

c.2841G>A; p.R947R; 3:49895836-49895836

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4108G>C; p.E1370Q; 3:49887402-49887402

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2007G>T; p.R669R; 3:49897559-49897559

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.3195G>A; p.A1065A; 3:49895243-49895243

prostateadenomaSubstitution - coding silent

c.142A>G; p.S48G; 3:49903468-49903468

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4003A>G; p.R1335G; 3:49887507-49887507

skinmalignant_melanomaSubstitution - Missense

c.3900G>A; p.L1300L; 3:49889971-49889971

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1991C>T; p.P664L; 3:49897575-49897575

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3460G>A; p.E1154K; 3:49891473-49891473

pancreascarcinomaSubstitution - Missense

c.3235C>T; p.R1079W; 3:49895203-49895203

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3460G>A; p.E1154K; 3:49891473-49891473

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1104C>T; p.A368A; 3:49902506-49902506

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1694A>T; p.D565V; 3:49898543-49898543

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2264delG; p.G755fs*19; 3:49896810-49896810

ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.2264delG; p.G755fs*19; 3:49896810-49896810

ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.2264delG; p.G755fs*19; 3:49896810-49896810

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1209G>A; p.S403S; 3:49902401-49902401

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2264delG; p.G755fs*19; 3:49896810-49896810

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3205G>T; p.E1069*; 3:49895233-49895233

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3464G>A; p.G1155D; 3:49891469-49891469

skinmalignant_melanomaSubstitution - Missense

c.2871G>A; p.T957T; 3:49895806-49895806

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2995C>A; p.L999M; 3:49895516-49895516

urinary_tract; bladdercarcinomaSubstitution - Missense

c.148_150delTCC; p.S50delS; 3:49903460-49903462

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.3555C>T; p.L1185L; 3:49891286-49891286

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3190T>C; p.S1064P; 3:49895248-49895248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3190T>C; p.S1064P; 3:49895248-49895248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1184G>A; p.R395Q; 3:49902426-49902426

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1184G>A; p.R395Q; 3:49902426-49902426

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1543G>C; p.D515H; 3:49898872-49898872

livercarcinomaSubstitution - Missense

c.3353-2A>G; p.?; 3:49891582-49891582

stomachcarcinoma; adenocarcinomaUnknown

c.1543G>C; p.D515H; 3:49898872-49898872

livercarcinomaSubstitution - Missense

c.3911G>A; p.R1304Q; 3:49889960-49889960

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2865G>T; p.Q955H; 3:49895812-49895812

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1950G>T; p.V650V; 3:49897616-49897616

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.599C>G; p.A200G; 3:49903011-49903011

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3581G>A; p.R1194H; 3:49891260-49891260

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3190T>G; p.S1064A; 3:49895248-49895248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3271+4T>G; p.?; 3:49895163-49895163

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1729delC; p.H577fs*5; 3:49898202-49898202

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2840G>A; p.R947Q; 3:49895837-49895837

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1850G>A; p.R617Q; 3:49898081-49898081

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.184G>A; p.E62K; 3:49903426-49903426

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3764C>T; p.A1255V; 3:49890531-49890531

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.240G>C; p.V80V; 3:49903370-49903370

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2649+1G>A; p.?; 3:49896194-49896194

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.155G>A; p.G52E; 3:49903455-49903455

breastcarcinomaSubstitution - Missense

c.2572C>T; p.R858C; 3:49896272-49896272

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.882G>A; p.R294R; 3:49902728-49902728

skinmalignant_melanomaSubstitution - coding silent

c.3191C>G; p.S1064C; 3:49895247-49895247

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4120C>T; p.R1374C; 3:49887390-49887390

large_intestine; colonNSSubstitution - Missense

c.1021G>A; p.E341K; 3:49902589-49902589

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4202G>A; p.*1401*; 3:49887308-49887308

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1843C>T; p.P615S; 3:49898088-49898088

skinmalignant_melanomaSubstitution - Missense

c.750G>A; p.V250V; 3:49902860-49902860

ovarycarcinoma; mucinous_carcinomaSubstitution - coding silent

c.750G>A; p.V250V; 3:49902860-49902860

ovarycarcinoma; mucinous_carcinomaSubstitution - coding silent

c.2017A>C; p.T673P; 3:49897549-49897549

thyroidother; neoplasmSubstitution - Missense

c.1803G>T; p.L601L; 3:49898128-49898128

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3999C>T; p.T1333T; 3:49887511-49887511

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2588C>T; p.P863L; 3:49896256-49896256

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2588C>T; p.P863L; 3:49896256-49896256

skinmalignant_melanomaSubstitution - Missense

c.1282C>T; p.L428L; 3:49899212-49899212

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3595C>T; p.L1199L; 3:49891246-49891246

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3296G>C; p.G1099A; 3:49891814-49891814

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3353G>A; p.R1118H; 3:49891580-49891580

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.308C>T; p.T103M; 3:49903302-49903302

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1877T>C; p.L626P; 3:49898054-49898054

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1963G>A; p.V655I; 3:49897603-49897603

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2274_2280delACCTGGT; p.S761fs*11; 3:49896794-49896800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.296C>T; p.P99L; 3:49903314-49903314

skinmalignant_melanomaSubstitution - Missense

c.3423G>A; p.P1141P; 3:49891510-49891510

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.3578C>A; p.A1193D; 3:49891263-49891263

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3735C>T; p.R1245R; 3:49890560-49890560

livercarcinomaSubstitution - coding silent

c.425G>A; p.R142H; 3:49903185-49903185

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3582C>T; p.R1194R; 3:49891259-49891259

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3427G>A; p.V1143M; 3:49891506-49891506

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3772A>G; p.S1258G; 3:49890523-49890523

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1244C>A; p.A415D; 3:49899250-49899250

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3388C>T; p.R1130*; 3:49891545-49891545

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1836C>T; p.G612G; 3:49898095-49898095

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent


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