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

Basic Information

Gene ID

253738

Name

EBF3

Synonymous

early B-cell factor 3;EBF3;early B-cell factor 3

Definition

olf-1/EBF-like 2|transcription factor COE3

Position

10q26.3

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 0.11.

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.1293C>T; p.F431F; 10:129842168-129842168

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1282G>A; p.V428I; 10:129842179-129842179

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.300C>A; p.N100K; 10:129962997-129962997

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.518G>C; p.R173T; 10:129957294-129957294

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.828C>T; p.G276G; 10:129867839-129867839

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.992C>A; p.P331H; 10:129867161-129867161

 NSNSSubstitution - Missense

c.747G>T; p.P249P; 10:129873486-129873486

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.558C>A; p.F186L; 10:129877846-129877846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.714C>T; p.S238S; 10:129873519-129873519

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1408C>T; p.Q470*; 10:129840970-129840970

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.319G>T; p.G107C; 10:129962978-129962978

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.734G>A; p.R245H; 10:129873499-129873499

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.734G>A; p.R245H; 10:129873499-129873499

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.734G>A; p.R245H; 10:129873499-129873499

 livercarcinomaSubstitution - Missense

c.734G>A; p.R245H; 10:129873499-129873499

 livercarcinomaSubstitution - Missense

c.723G>A; p.G241G; 10:129873510-129873510

 skinmalignant_melanomaSubstitution - coding silent

c.210C>A; p.F70L; 10:129963448-129963448

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.171G>A; p.Q57Q; 10:129963487-129963487

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.708C>A; p.N236K; 10:129873525-129873525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.D179D; 10:129957275-129957275

 skinmalignant_melanomaSubstitution - coding silent

c.703C>T; p.H235Y; 10:129873530-129873530

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.795G>T; p.W265C; 10:129867872-129867872

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.669C>A; p.G223G; 10:129873564-129873564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1588C>T; p.P530S; 10:129840281-129840281

 skinmalignant_melanomaSubstitution - Missense

c.1588C>T; p.P530S; 10:129840281-129840281

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.136G>A; p.G46S; 10:129963522-129963522

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.136G>A; p.G46S; 10:129963522-129963522

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.790G>A; p.G264S; 10:129867877-129867877

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1152G>A; p.M384I; 10:129843152-129843152

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.876G>A; p.V292V; 10:129867791-129867791

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1390G>A; p.V464I; 10:129840988-129840988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1390G>A; p.V464I; 10:129840988-129840988

 pancreascarcinomaSubstitution - Missense

c.563T>C; p.L188P; 10:129877841-129877841

 pancreascarcinomaSubstitution - Missense

c.648G>A; p.S216S; 10:129873585-129873585

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.402G>A; p.M134I; 10:129962180-129962180

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1173C>T; p.I391I; 10:129842288-129842288

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1076C>T; p.P359L; 10:129848417-129848417

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1173C>T; p.I391I; 10:129842288-129842288

 skinmalignant_melanomaSubstitution - coding silent

c.1515C>A; p.S505S; 10:129840863-129840863

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.816C>T; p.V272V; 10:129867851-129867851

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.919C>G; p.P307A; 10:129867234-129867234

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.813C>T; p.T271T; 10:129867854-129867854

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.713C>T; p.S238F; 10:129873520-129873520

 skinmalignant_melanomaSubstitution - Missense

c.1223G>A; p.R408H; 10:129842238-129842238

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1223G>A; p.R408H; 10:129842238-129842238

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1210T>A; p.Y404N; 10:129842251-129842251

 breastcarcinomaSubstitution - Missense

c.730delG; p.A244fs*4; 10:129873503-129873503

 soft_tissue; fatliposarcoma; myxoid-round_cellDeletion - Frameshift

c.1072C>T; p.H358Y; 10:129848421-129848421

 kidneyother; neoplasmSubstitution - Missense

c.243G>A; p.P81P; 10:129963415-129963415

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.518G>T; p.R173I; 10:129957294-129957294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.511G>A; p.G171S; 10:129957301-129957301

 skinmalignant_melanomaSubstitution - Missense

c.1609G>A; p.G537R; 10:129840260-129840260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.420C>A; p.V140V; 10:129958999-129958999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.428G>A; p.G143D; 10:129958991-129958991

 stomachadenocarcinomaSubstitution - Missense

c.329A>G; p.Y110C; 10:129962968-129962968

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.841G>C; p.D281H; 10:129867826-129867826

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1239C>G; p.I413M; 10:129842222-129842222

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.720C>T; p.H240H; 10:129873513-129873513

 breastcarcinomaSubstitution - coding silent

c.1549G>A; p.A517T; 10:129840320-129840320

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1197C>T; p.I399I; 10:129842264-129842264

 skinmalignant_melanomaSubstitution - coding silent

c.832A>G; p.N278D; 10:129867835-129867835

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.30C>T; p.R10R; 10:129963739-129963739

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1382G>A; p.R461Q; 10:129840996-129840996

 skinmalignant_melanomaSubstitution - Missense

c.1382G>A; p.R461Q; 10:129840996-129840996

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.402G>T; p.M134I; 10:129962180-129962180

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1542G>C; p.Q514H; 10:129840327-129840327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.920C>T; p.P307L; 10:129867233-129867233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.843C>T; p.D281D; 10:129867824-129867824

 pancreascarcinomaSubstitution - coding silent

c.843C>T; p.D281D; 10:129867824-129867824

 pancreascarcinomaSubstitution - coding silent

c.843C>T; p.D281D; 10:129867824-129867824

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.1280G>C; p.G427A; 10:129842181-129842181

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.814G>A; p.V272I; 10:129867853-129867853

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1418A>G; p.N473S; 10:129840960-129840960

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.727C>G; p.R243G; 10:129873506-129873506

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.174G>A; p.P58P; 10:129963484-129963484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.194C>A; p.S65Y; 10:129963464-129963464

 central_nervous_system; braingliomaSubstitution - Missense

c.1133T>C; p.V378A; 10:129843171-129843171

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>A; p.E363K; 10:129848406-129848406

 skinmalignant_melanomaSubstitution - Missense

c.1048A>C; p.R350R; 10:129848445-129848445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.736C>T; p.R246C; 10:129873497-129873497

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>T; p.D345Y; 10:129848460-129848460

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.953C>G; p.T318S; 10:129867200-129867200

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.468C>G; p.T156T; 10:129958951-129958951

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.613C>T; p.P205S; 10:129877791-129877791

 skinmalignant_melanomaSubstitution - Missense

c.1372G>C; p.V458L; 10:129841006-129841006

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.292-6T>G; p.?; 10:129963011-129963011

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.837C>T; p.F279F; 10:129867830-129867830

 skinmalignant_melanomaSubstitution - coding silent

c.1170G>T; p.E390D; 10:129842291-129842291

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.105C>T; p.G35G; 10:129963664-129963664

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.105C>T; p.G35G; 10:129963664-129963664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.499A>C; p.K167Q; 10:129957313-129957313

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.385C>T; p.R129C; 10:129962197-129962197

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.597G>T; p.L199F; 10:129877807-129877807

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.420C>T; p.V140V; 10:129958999-129958999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.245T>G; p.V82G; 10:129963413-129963413

 breastcarcinomaSubstitution - Missense

c.754+4C>T; p.?; 10:129873475-129873475

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1202A>G; p.E401G; 10:129842259-129842259

 prostatecarcinomaSubstitution - Missense

c.666C>T; p.D222D; 10:129873567-129873567

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1555G>A; p.A519T; 10:129840314-129840314

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1555G>A; p.A519T; 10:129840314-129840314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1555G>A; p.A519T; 10:129840314-129840314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1491G>A; p.S497S; 10:129840887-129840887

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1555G>A; p.A519T; 10:129840314-129840314

 pancreascarcinomaSubstitution - Missense

c.1469C>T; p.A490V; 10:129840909-129840909

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1347C>T; p.V449V; 10:129841031-129841031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1376C>T; p.S459F; 10:129841002-129841002

 skin; neckmalignant_melanomaSubstitution - Missense

c.1220C>T; p.P407L; 10:129842241-129842241

 skinmalignant_melanomaSubstitution - Missense

c.1215C>T; p.S405S; 10:129842246-129842246

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1325C>T; p.T442M; 10:129842136-129842136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1339G>A; p.D447N; 10:129842122-129842122

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1339G>A; p.D447N; 10:129842122-129842122

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1325C>T; p.T442M; 10:129842136-129842136

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1325C>T; p.T442M; 10:129842136-129842136

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1325C>T; p.T442M; 10:129842136-129842136

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1121C>T; p.A374V; 10:129843183-129843183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1121C>T; p.A374V; 10:129843183-129843183

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1121C>T; p.A374V; 10:129843183-129843183

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1492C>T; p.P498S; 10:129840886-129840886

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.618A>G; p.R206R; 10:129877786-129877786

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.939C>T; p.G313G; 10:129867214-129867214

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.939C>T; p.G313G; 10:129867214-129867214

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.883G>A; p.E295K; 10:129867784-129867784

 skinmalignant_melanomaSubstitution - Missense

c.1170G>A; p.E390E; 10:129842291-129842291

 skinmalignant_melanomaSubstitution - coding silent

c.1133T>A; p.V378E; 10:129843171-129843171

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1068_1086del19; p.R357fs*9; 10:129848407-129848425

 livercarcinomaDeletion - Frameshift

c.140T>C; p.V47A; 10:129963518-129963518

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.140T>C; p.V47A; 10:129963518-129963518

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.L154L; 10:129958959-129958959

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.156G>T; p.A52A; 10:129963502-129963502

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1548C>T; p.S516S; 10:129840321-129840321

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1162A>G; p.N388D; 10:129843142-129843142

 skinmalignant_melanomaSubstitution - Missense

c.374A>T; p.D125V; 10:129962208-129962208

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1433_1434insT; p.T479fs*2; 10:129840944-129840945

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.1345G>T; p.V449F; 10:129842116-129842116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.800C>A; p.T267K; 10:129867867-129867867

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.229A>C; p.R77R; 10:129963429-129963429

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1021G>A; p.E341K; 10:129848472-129848472

 skinmalignant_melanomaSubstitution - Missense

c.126C>A; p.A42A; 10:129963643-129963643

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.747G>A; p.P249P; 10:129873486-129873486

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.398C>A; p.S133*; 10:129962184-129962184

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.773C>T; p.A258V; 10:129867894-129867894

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.484A>G; p.S162G; 10:129958935-129958935

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.980G>T; p.C327F; 10:129867173-129867173

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.334C>G; p.L112V; 10:129962963-129962963

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1183C>T; p.R395*; 10:129842278-129842278

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1183C>T; p.R395*; 10:129842278-129842278

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Nonsense

c.162C>T; p.F54F; 10:129963496-129963496

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.862G>A; p.G288R; 10:129867805-129867805

 livercarcinomaSubstitution - Missense

c.892A>G; p.T298A; 10:129867261-129867261

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.A52A; 10:129963502-129963502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.733C>A; p.R245S; 10:129873500-129873500

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.138C>T; p.G46G; 10:129963520-129963520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.523G>A; p.E175K; 10:129957289-129957289

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.523G>A; p.E175K; 10:129957289-129957289

 skinmalignant_melanomaSubstitution - Missense

c.1513T>C; p.S505P; 10:129840865-129840865

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1648C>A; p.P550T; 10:129837937-129837937

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.573C>T; p.F191F; 10:129877831-129877831

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.155C>T; p.A52V; 10:129963503-129963503

 pancreascarcinomaSubstitution - Missense

c.1033G>A; p.D345N; 10:129848460-129848460

 skinmalignant_melanomaSubstitution - Missense

c.1290C>T; p.S430S; 10:129842171-129842171

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.355G>A; p.G119R; 10:129962942-129962942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14A>G; p.Q5R; 10:129963755-129963755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.801G>C; p.T267T; 10:129867866-129867866

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1426A>G; p.T476A; 10:129840952-129840952

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.946G>A; p.E316K; 10:129867207-129867207

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1472G>T; p.S491I; 10:129840906-129840906

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.554+1G>C; p.?; 10:129957257-129957257

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1443G>T; p.M481I; 10:129840935-129840935

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1567C>T; p.R523W; 10:129840302-129840302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1044_1045insT; p.Q349fs*13; 10:129848448-129848449

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.52G>C; p.E18Q; 10:129963717-129963717

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1016T>A; p.L339H; 10:129848477-129848477

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.667G>A; p.G223S; 10:129873566-129873566

 skinmalignant_melanomaSubstitution - Missense

c.1087delG; p.E363fs*9; 10:129848406-129848406

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1574A>G; p.Q525R; 10:129840295-129840295

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.806delG; p.G269fs*6; 10:129867861-129867861

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.829G>A; p.D277N; 10:129867838-129867838

 skinmalignant_melanomaSubstitution - Missense

c.1101G>A; p.K367K; 10:129848392-129848392

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.806delG; p.G269fs*6; 10:129867861-129867861

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.806delG; p.G269fs*6; 10:129867861-129867861

 large_intestine; colonNSDeletion - Frameshift

c.806delG; p.G269fs*6; 10:129867861-129867861

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.806delG; p.G269fs*6; 10:129867861-129867861

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1221C>T; p.P407P; 10:129842240-129842240

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.681C>A; p.A227A; 10:129873552-129873552

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>A; p.A227A; 10:129873552-129873552

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.36delG; p.T13fs*3; 10:129963733-129963733

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1326G>A; p.T442T; 10:129842135-129842135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1326G>A; p.T442T; 10:129842135-129842135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.253G>A; p.E85K; 10:129963405-129963405

 skinmalignant_melanomaSubstitution - Missense

c.1530C>T; p.Y510Y; 10:129840848-129840848

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1530C>T; p.Y510Y; 10:129840848-129840848

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.142G>A; p.G48R; 10:129963516-129963516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1045C>T; p.Q349*; 10:129848448-129848448

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1045C>T; p.Q349*; 10:129848448-129848448

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.691A>C; p.N231H; 10:129873542-129873542

 central_nervous_system; braingliomaSubstitution - Missense

c.1559C>T; p.P520L; 10:129840310-129840310

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1351T>C; p.Y451H; 10:129841027-129841027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.386G>A; p.R129H; 10:129962196-129962196

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.227A>G; p.D76G; 10:129963431-129963431

 skinmalignant_melanomaSubstitution - Missense

c.729G>T; p.R243R; 10:129873504-129873504

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.721G>A; p.G241R; 10:129873512-129873512

 skinmalignant_melanomaSubstitution - Missense

c.729G>T; p.R243R; 10:129873504-129873504

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.918C>T; p.T306T; 10:129867235-129867235

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.968C>T; p.S323F; 10:129867185-129867185

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.918C>T; p.T306T; 10:129867235-129867235

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.727C>T; p.R243W; 10:129873506-129873506

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1125G>A; p.A375A; 10:129843179-129843179

 skinmalignant_melanomaSubstitution - coding silent

c.727C>T; p.R243W; 10:129873506-129873506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.727C>T; p.R243W; 10:129873506-129873506

 pancreasNSSubstitution - Missense

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