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

Basic Information

Gene ID

63035

Name

BCORL1

Synonymous

BCL6 corepressor-like 1;BCORL1;BCL6 corepressor-like 1

Definition

BCL-6 corepressor-like protein 1|BCoR-like protein 1

Position

Xq25-q26.1

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 0.21.

The copy number variations for various cancers

Top

There is no record for BCORL1

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2739G>A; p.K913K; 23:130015511-130015511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.283C>T; p.P95S; 23:130013055-130013055

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1912C>T; p.Q638*; 23:130014684-130014684

 skinmalignant_melanomaSubstitution - Nonsense

c.4697-1G>A; p.?; 23:130051859-130051859

 urinary_tract; bladdercarcinomaUnknown

c.469G>A; p.A157T; 23:130013241-130013241

 bone; sacrumEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3833G>A; p.R1278H; 23:130025134-130025134

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.469G>A; p.A157T; 23:130013241-130013241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.123C>T; p.G41G; 23:130012614-130012614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2105_2106GG>TT; p.W702>?; 23:130014877-130014878

 lungcarcinoma; adenocarcinomaComplex

c.2424G>A; p.T808T; 23:130015196-130015196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3332C>T; p.T1111M; 23:130016104-130016104

 large_intestine; caecumadenomaSubstitution - Missense

c.973G>T; p.A325S; 23:130013745-130013745

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3332C>T; p.T1111M; 23:130016104-130016104

 breastcarcinomaSubstitution - Missense

c.1819C>A; p.L607M; 23:130014591-130014591

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4683C>A; p.S1561R; 23:130050781-130050781

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2339G>A; p.S780N; 23:130015111-130015111

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.629C>T; p.S210L; 23:130013401-130013401

 skinmalignant_melanomaSubstitution - Missense

c.629C>T; p.S210L; 23:130013401-130013401

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4410C>T; p.D1470D; 23:130037471-130037471

 kidneyother; neoplasmSubstitution - coding silent

c.41G>T; p.W14L; 23:130005272-130005272

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3875G>A; p.R1292Q; 23:130025176-130025176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4716_4717insT; p.C1573fs*2; 23:130051879-130051880

 lungcarcinoma; small_cell_carcinomaInsertion - Frameshift

c.130C>A; p.Q44K; 23:130012621-130012621

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1740C>T; p.P580P; 23:130014512-130014512

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.938C>T; p.P313L; 23:130013710-130013710

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1488C>T; p.S496S; 23:130014260-130014260

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3395T>C; p.L1132P; 23:130016167-130016167

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2768T>A; p.L923H; 23:130015540-130015540

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1088C>T; p.S363F; 23:130013860-130013860

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4985C>G; p.S1662C; 23:130055985-130055985

 ovaryother; neoplasmSubstitution - Missense

c.4905C>T; p.S1635S; 23:130055905-130055905

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3286G>A; p.V1096I; 23:130016058-130016058

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2737A>G; p.K913E; 23:130015509-130015509

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2669G>A; p.R890Q; 23:130015441-130015441

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.613_614insC; p.A207fs*65; 23:130013385-130013386

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.2600C>T; p.S867L; 23:130015372-130015372

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3391C>T; p.Q1131*; 23:130016163-130016163

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2134A>T; p.T712S; 23:130014906-130014906

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2092G>T; p.D698Y; 23:130014864-130014864

 breastcarcinomaSubstitution - Missense

c.2366G>A; p.R789H; 23:130015138-130015138

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3551A>T; p.K1184M; 23:130021094-130021094

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.214_215insG; p.A74fs*20; 23:130012986-130012987

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.3761A>G; p.E1254G; 23:130025062-130025062

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4750G>A; p.D1584N; 23:130051913-130051913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4750G>A; p.D1584N; 23:130051913-130051913

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3247C>T; p.R1083W; 23:130016019-130016019

 skinmalignant_melanomaSubstitution - Missense

c.2401G>A; p.E801K; 23:130015173-130015173

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3429C>T; p.S1143S; 23:130016201-130016201

 breastcarcinomaSubstitution - coding silent

c.3955G>A; p.E1319K; 23:130025256-130025256

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.434A>G; p.N145S; 23:130013206-130013206

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3562C>A; p.P1188T; 23:130021105-130021105

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4913T>C; p.I1638T; 23:130055913-130055913

 skinmalignant_melanomaSubstitution - Missense

c.2495G>A; p.G832D; 23:130015267-130015267

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2495G>A; p.G832D; 23:130015267-130015267

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2495G>A; p.G832D; 23:130015267-130015267

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.4403G>T; p.W1468L; 23:130037464-130037464

 breastcarcinomaSubstitution - Missense

c.4403G>T; p.W1468L; 23:130037464-130037464

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.635C>T; p.S212F; 23:130013407-130013407

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3670C>A; p.R1224S; 23:130022959-130022959

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.390C>T; p.A130A; 23:130013162-130013162

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3670C>A; p.R1224S; 23:130022959-130022959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3670C>A; p.R1224S; 23:130022959-130022959

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.109G>C; p.E37Q; 23:130012600-130012600

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.400A>T; p.N134Y; 23:130013172-130013172

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1434C>T; p.L478L; 23:130014206-130014206

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1434C>T; p.L478L; 23:130014206-130014206

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3621G>A; p.K1207K; 23:130022910-130022910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3621G>A; p.K1207K; 23:130022910-130022910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.835G>T; p.A279S; 23:130013607-130013607

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.R19W; 23:130005286-130005286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3632G>A; p.S1211N; 23:130022921-130022921

 ovarycarcinomaSubstitution - Missense

c.1413G>A; p.G471G; 23:130014185-130014185

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3639C>T; p.F1213F; 23:130022928-130022928

 skinmalignant_melanomaSubstitution - coding silent

c.2923A>G; p.K975E; 23:130015695-130015695

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.522C>T; p.F174F; 23:130013294-130013294

 skinmalignant_melanomaSubstitution - coding silent

c.1023G>A; p.M341I; 23:130013795-130013795

 breastcarcinomaSubstitution - Missense

c.2295G>A; p.T765T; 23:130015067-130015067

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2105G>T; p.W702L; 23:130014877-130014877

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.205_206insG; p.S69fs*25; 23:130012977-130012978

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4814T>G; p.L1605R; 23:130051977-130051977

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2091G>A; p.G697G; 23:130014863-130014863

 thyroidcarcinomaSubstitution - coding silent

c.3306G>T; p.K1102N; 23:130016078-130016078

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5008G>A; p.E1670K; 23:130056008-130056008

 breastcarcinomaSubstitution - Missense

c.3652C>T; p.P1218S; 23:130022941-130022941

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3269G>A; p.R1090Q; 23:130016041-130016041

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5077G>A; p.E1693K; 23:130056077-130056077

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.3286G>T; p.V1096L; 23:130016058-130016058

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5028C>T; p.D1676D; 23:130056028-130056028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.203G>C; p.G68A; 23:130012975-130012975

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1057C>T; p.P353S; 23:130013829-130013829

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1794C>A; p.F598L; 23:130014566-130014566

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4790T>C; p.M1597T; 23:130051953-130051953

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.4790T>C; p.M1597T; 23:130051953-130051953

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.882G>A; p.P294P; 23:130013654-130013654

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1696C>A; p.P566T; 23:130014468-130014468

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2977C>T; p.H993Y; 23:130015749-130015749

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2079C>T; p.I693I; 23:130014851-130014851

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4167C>T; p.V1389V; 23:130028723-130028723

 skinmalignant_melanomaSubstitution - coding silent

c.2820C>T; p.S940S; 23:130015592-130015592

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2977C>T; p.H993Y; 23:130015749-130015749

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2228G>A; p.R743H; 23:130015000-130015000

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2723G>T; p.C908F; 23:130015495-130015495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4396C>T; p.R1466W; 23:130037457-130037457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.268G>T; p.D90Y; 23:130013040-130013040

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2152G>A; p.V718M; 23:130014924-130014924

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2461G>T; p.G821W; 23:130015233-130015233

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3109C>T; p.R1037C; 23:130015881-130015881

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4973G>A; p.R1658K; 23:130055973-130055973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3199C>T; p.R1067W; 23:130015971-130015971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2074G>A; p.E692K; 23:130014846-130014846

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.113C>G; p.S38*; 23:130012604-130012604

 breastcarcinomaSubstitution - Nonsense

c.3744_3745AG>TA; p.E1248_V1249>DI; 23:130025045-130025046

 skin; head_neckcarcinoma; squamous_cell_carcinomaComplex - compound substitution

c.3836G>T; p.S1279I; 23:130025137-130025137

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.106_108delGAG; p.E37delE; 23:130012597-130012599

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - In frame

c.690A>G; p.P230P; 23:130013462-130013462

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.5053G>T; p.E1685*; 23:130056053-130056053

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1385G>A; p.S462N; 23:130014157-130014157

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1812G>A; p.P604P; 23:130014584-130014584

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.5053G>T; p.E1685*; 23:130056053-130056053

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3994C>T; p.R1332*; 23:130025295-130025295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3813C>T; p.T1271T; 23:130025114-130025114

 skinmalignant_melanomaSubstitution - coding silent

c.3902T>C; p.M1301T; 23:130025203-130025203

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4893G>A; p.R1631R; 23:130055893-130055893

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2467C>G; p.P823A; 23:130015239-130015239

 breastcarcinomaSubstitution - Missense

c.3153G>T; p.M1051I; 23:130015925-130015925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3417G>A; p.V1139V; 23:130016189-130016189

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1123G>T; p.A375S; 23:130013895-130013895

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2842C>T; p.Q948*; 23:130015614-130015614

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1210G>A; p.A404T; 23:130013982-130013982

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1359G>A; p.P453P; 23:130014131-130014131

 breastcarcinomaSubstitution - coding silent

c.4711T>G; p.F1571V; 23:130051874-130051874

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.456_459delTGAC; p.D153fs*6; 23:130013228-130013231

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.3494G>T; p.G1165V; 23:130021037-130021037

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.4688C>T; p.S1563F; 23:130050786-130050786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3621G>T; p.K1207N; 23:130022910-130022910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1691C>T; p.P564L; 23:130014463-130014463

 skinmalignant_melanomaSubstitution - Missense

c.3621G>T; p.K1207N; 23:130022910-130022910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3252delT; p.K1085fs*7; 23:130016024-130016024

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1988C>G; p.S663C; 23:130014760-130014760

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.724G>C; p.A242P; 23:130013496-130013496

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3621G>T; p.K1207N; 23:130022910-130022910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2151C>T; p.Y717Y; 23:130014923-130014923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.509_511delAGA; p.K171delK; 23:130013281-130013283

 breastcarcinomaDeletion - In frame

c.213C>T; p.A71A; 23:130012985-130012985

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4545C>T; p.P1515P; 23:130039209-130039209

 skinmalignant_melanomaSubstitution - coding silent

c.4182T>C; p.D1394D; 23:130028738-130028738

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5097C>T; p.L1699L; 23:130056097-130056097

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.4770G>A; p.P1590P; 23:130051933-130051933

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4770G>A; p.P1590P; 23:130051933-130051933

 pancreascarcinomaSubstitution - coding silent

c.2197G>A; p.D733N; 23:130014969-130014969

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887C>A; p.P296H; 23:130013659-130013659

 kidneyother; neoplasmSubstitution - Missense

c.33G>A; p.V11V; 23:130005264-130005264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3575C>T; p.S1192F; 23:130021118-130021118

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2569G>A; p.G857R; 23:130015341-130015341

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3671G>A; p.R1224H; 23:130022960-130022960

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2074G>T; p.E692*; 23:130014846-130014846

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2074G>T; p.E692*; 23:130014846-130014846

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.4435G>T; p.G1479W; 23:130037496-130037496

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2665C>G; p.P889A; 23:130015437-130015437

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2982G>T; p.E994D; 23:130015754-130015754

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2366G>T; p.R789L; 23:130015138-130015138

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4973G>T; p.R1658M; 23:130055973-130055973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1729C>T; p.P577S; 23:130014501-130014501

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2822G>T; p.G941V; 23:130015594-130015594

 pancreascarcinomaSubstitution - Missense

c.2822G>T; p.G941V; 23:130015594-130015594

 central_nervous_system; temporoparietalglioma; astrocytoma_Grade_IISubstitution - Missense

c.2625C>G; p.L875L; 23:130015397-130015397

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.750T>C; p.P250P; 23:130013522-130013522

 breastcarcinomaSubstitution - coding silent

c.701C>A; p.S234*; 23:130013473-130013473

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.4159A>G; p.N1387D; 23:130028715-130028715

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2517G>A; p.A839A; 23:130015289-130015289

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4643G>C; p.R1548P; 23:130050741-130050741

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1433_1434TC>GT; p.L478R; 23:130014205-130014206

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2996delC; p.Q1001fs*49; 23:130015768-130015768

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2902C>T; p.P968S; 23:130015674-130015674

 central_nervous_system; braingliomaSubstitution - Missense

c.2396C>T; p.T799I; 23:130015168-130015168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2902C>T; p.P968S; 23:130015674-130015674

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.4716C>T; p.A1572A; 23:130051879-130051879

 oesophaguscarcinomaSubstitution - coding silent

c.582T>C; p.T194T; 23:130013354-130013354

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.358G>T; p.D120Y; 23:130013130-130013130

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.715G>A; p.V239I; 23:130013487-130013487

 central_nervous_system; braingliomaSubstitution - Missense

c.967C>T; p.P323S; 23:130013739-130013739

 skinmalignant_melanomaSubstitution - Missense

c.1604_1605insA; p.T536fs*67; 23:130014376-130014377

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.602delC; p.P202fs*51; 23:130013374-130013374

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3491delG; p.A1166fs*56; 23:130021034-130021034

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.736C>T; p.P246S; 23:130013508-130013508

 skinmalignant_melanomaSubstitution - Missense

c.3491delG; p.A1166fs*56; 23:130021034-130021034

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2407T>C; p.S803P; 23:130015179-130015179

 pancreascarcinomaSubstitution - Missense

c.2678_2693del16; p.S894fs*26; 23:130015450-130015465

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.2787G>A; p.Q929Q; 23:130015559-130015559

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2122G>A; p.A708T; 23:130014894-130014894

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.911C>T; p.P304L; 23:130013683-130013683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3896G>A; p.R1299Q; 23:130025197-130025197

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2485C>T; p.L829L; 23:130015257-130015257

 skinmalignant_melanomaSubstitution - coding silent

c.995_996CC>TT; p.P332L; 23:130013767-130013768

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2518T>C; p.S840P; 23:130015290-130015290

 skinmalignant_melanomaSubstitution - Missense

c.3840_3845delCCATGC; p.H1281_A1282delHA; 23:130025141-130025146

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.1605C>A; p.T535T; 23:130014377-130014377

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.1155C>T; p.T385T; 23:130013927-130013927

 skinmalignant_melanomaSubstitution - coding silent

c.4879G>A; p.D1627N; 23:130055879-130055879

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4879G>A; p.D1627N; 23:130055879-130055879

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2266C>T; p.Q756*; 23:130015038-130015038

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.4540G>T; p.D1514Y; 23:130039204-130039204

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 thyroidother; neoplasmSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.807C>G; p.I269M; 23:130013579-130013579

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 thyroidother; neoplasmSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 thyroidother; neoplasmSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4470G>A; p.T1490T; 23:130037531-130037531

 breastcarcinomaSubstitution - coding silent

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.807C>G; p.I269M; 23:130013579-130013579

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.4979T>G; p.V1660G; 23:130055979-130055979

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4573G>T; p.A1525S; 23:130039237-130039237

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4457C>T; p.A1486V; 23:130037518-130037518

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1624G>A; p.D542N; 23:130014396-130014396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1881G>A; p.K627K; 23:130014653-130014653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3053C>T; p.P1018L; 23:130015825-130015825

 breastcarcinomaSubstitution - Missense

c.3699T>C; p.C1233C; 23:130025000-130025000

 breastcarcinomaSubstitution - coding silent

c.1545T>A; p.D515E; 23:130014317-130014317

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1818G>C; p.Q606H; 23:130014590-130014590

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2043C>T; p.G681G; 23:130014815-130014815

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2782C>G; p.P928A; 23:130015554-130015554

 haematopoietic_and_lymphoid_tissue; breastlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.206G>T; p.S69I; 23:130012978-130012978

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5044G>A; p.G1682S; 23:130056044-130056044

 skinmalignant_melanomaSubstitution - Missense

c.3571C>A; p.Q1191K; 23:130021114-130021114

 breastcarcinomaSubstitution - Missense

c.3571C>A; p.Q1191K; 23:130021114-130021114

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4606C>T; p.R1536C; 23:130039270-130039270

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3487C>T; p.P1163S; 23:130021030-130021030

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2261T>C; p.I754T; 23:130015033-130015033

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.303C>T; p.Y101Y; 23:130013075-130013075

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.61C>T; p.R21C; 23:130005292-130005292

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2269G>A; p.G757R; 23:130015041-130015041

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.303C>T; p.Y101Y; 23:130013075-130013075

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1470C>T; p.L490L; 23:130014242-130014242

 skinmalignant_melanomaSubstitution - coding silent

c.4872C>G; p.L1624L; 23:130055872-130055872

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4872C>G; p.L1624L; 23:130055872-130055872

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.3394C>A; p.L1132I; 23:130016166-130016166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1434C>A; p.L478L; 23:130014206-130014206

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5105C>T; p.S1702F; 23:130056105-130056105

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.5036delC; p.P1681fs*20; 23:130056036-130056036

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.4764C>T; p.D1588D; 23:130051927-130051927

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2365C>T; p.R789C; 23:130015137-130015137

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5076C>T; p.Y1692Y; 23:130056076-130056076

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2568delG; p.A858fs*67; 23:130015340-130015340

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.4496A>G; p.N1499S; 23:130039160-130039160

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.692T>C; p.V231A; 23:130013464-130013464

 pancreascarcinomaSubstitution - Missense

c.692T>C; p.V231A; 23:130013464-130013464

 pancreascarcinomaSubstitution - Missense

c.4191C>T; p.N1397N; 23:130028747-130028747

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.804C>T; p.L268L; 23:130013576-130013576

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.769G>T; p.A257S; 23:130013541-130013541

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.663C>G; p.F221L; 23:130013435-130013435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4038G>A; p.L1346L; 23:130025339-130025339

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1235C>T; p.P412L; 23:130014007-130014007

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4870C>A; p.L1624I; 23:130055870-130055870

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1494G>T; p.E498D; 23:130014266-130014266

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3398A>G; p.Q1133R; 23:130016170-130016170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4947C>T; p.T1649T; 23:130055947-130055947

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3815A>G; p.Q1272R; 23:130025116-130025116

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.963_964insC; p.S324fs*96; 23:130013735-130013736

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.882G>T; p.P294P; 23:130013654-130013654

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.4981G>T; p.A1661S; 23:130055981-130055981

 breastcarcinomaSubstitution - Missense

c.3960A>G; p.E1320E; 23:130025261-130025261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4109C>T; p.S1370F; 23:130028665-130028665

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.269A>G; p.D90G; 23:130013041-130013041

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1915C>T; p.R639C; 23:130014687-130014687

 pancreascarcinomaSubstitution - Missense

c.3749T>C; p.F1250S; 23:130025050-130025050

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1914G>A; p.Q638Q; 23:130014686-130014686

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.251T>G; p.L84R; 23:130013023-130013023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2072C>T; p.P691L; 23:130014844-130014844

 skinmalignant_melanomaSubstitution - Missense

c.2067C>A; p.I689I; 23:130014839-130014839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3226C>T; p.Q1076*; 23:130015998-130015998

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3476C>A; p.T1159N; 23:130021019-130021019

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.4265G>T; p.C1422F; 23:130028821-130028821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4849C>T; p.R1617C; 23:130052012-130052012

 stomachadenocarcinomaSubstitution - Missense

c.2408C>A; p.S803Y; 23:130015180-130015180

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5098C>T; p.L1700L; 23:130056098-130056098

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.4920G>T; p.Q1640H; 23:130055920-130055920

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.437delC; p.Q147fs*2; 23:130013209-130013209

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.4706A>T; p.D1569V; 23:130051869-130051869

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4300G>A; p.A1434T; 23:130028856-130028856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97C>T; p.L33F; 23:130012588-130012588

 skinmalignant_melanomaSubstitution - Missense

c.4636C>T; p.Q1546*; 23:130050734-130050734

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Nonsense

c.3874C>T; p.R1292*; 23:130025175-130025175

 skin; extremitymalignant_melanomaSubstitution - Nonsense

c.2601G>A; p.S867S; 23:130015373-130015373

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3469G>A; p.E1157K; 23:130021012-130021012

 skinmalignant_melanomaSubstitution - Missense

c.3469G>A; p.E1157K; 23:130021012-130021012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.300C>G; p.D100E; 23:130013072-130013072

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2833C>T; p.R945*; 23:130015605-130015605

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2833C>T; p.R945*; 23:130015605-130015605

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1597G>A; p.G533S; 23:130014369-130014369

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4612C>T; p.L1538F; 23:130039276-130039276

 skinmalignant_melanomaSubstitution - Missense

c.4132C>A; p.L1378I; 23:130028688-130028688

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1762G>A; p.E588K; 23:130014534-130014534

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2833C>T; p.R945*; 23:130015605-130015605

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1888C>T; p.R630C; 23:130014660-130014660

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1111A>C; p.T371P; 23:130013883-130013883

 thyroidother; neoplasmSubstitution - Missense

c.768G>A; p.P256P; 23:130013540-130013540

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3445C>T; p.R1149W; 23:130020988-130020988

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3198C>T; p.F1066F; 23:130015970-130015970

 breastcarcinomaSubstitution - coding silent

c.4984T>G; p.S1662A; 23:130055984-130055984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4911G>A; p.R1637R; 23:130055911-130055911

 skinmalignant_melanomaSubstitution - coding silent

c.4932G>A; p.P1644P; 23:130055932-130055932

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1890C>A; p.R630R; 23:130014662-130014662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4380G>A; p.L1460L; 23:130037441-130037441

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2350C>T; p.R784*; 23:130015122-130015122

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.1139C>T; p.P380L; 23:130013911-130013911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2045C>G; p.S682C; 23:130014817-130014817

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2007C>T; p.T669T; 23:130014779-130014779

 skinmalignant_melanomaSubstitution - coding silent

c.4854G>C; p.G1618G; 23:130055854-130055854

 salivary_gland; maxillacarcinoma; adenoid_cystic_carcinomaSubstitution - coding silent

c.3603G>A; p.E1201E; 23:130021146-130021146

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2306A>G; p.K769R; 23:130015078-130015078

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3603G>A; p.E1201E; 23:130021146-130021146

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4696G>T; p.E1566*; 23:130050794-130050794

 pancreascarcinomaSubstitution - Nonsense

c.1007C>T; p.P336L; 23:130013779-130013779

 breastcarcinomaSubstitution - Missense

c.4717_4718insT; p.C1573fs*2; 23:130051880-130051881

 lungcarcinoma; small_cell_carcinomaInsertion - Frameshift

c.4717_4718insT; p.C1573fs*2; 23:130051880-130051881

 lungcarcinoma; small_cell_carcinomaInsertion - Frameshift

c.3180C>T; p.F1060F; 23:130015952-130015952

 skinmalignant_melanomaSubstitution - coding silent

c.5035_5036insC; p.G1682fs*4; 23:130056035-130056036

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.5018G>C; p.G1673A; 23:130056018-130056018

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.714A>G; p.P238P; 23:130013486-130013486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.494G>A; p.R165Q; 23:130013266-130013266

 livercarcinomaSubstitution - Missense

c.4987A>C; p.S1663R; 23:130055987-130055987

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.601G>T; p.A201S; 23:130013373-130013373

 skinmalignant_melanomaSubstitution - Missense

c.2464delA; p.K822fs*31; 23:130015236-130015236

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.3268C>T; p.R1090*; 23:130016040-130016040

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3268C>T; p.R1090*; 23:130016040-130016040

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1075A>C; p.T359P; 23:130013847-130013847

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2702C>T; p.P901L; 23:130015474-130015474

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3832C>T; p.R1278C; 23:130025133-130025133

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3832C>T; p.R1278C; 23:130025133-130025133

 skinmalignant_melanomaSubstitution - Missense

c.2140C>A; p.P714T; 23:130014912-130014912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1203G>A; p.T401T; 23:130013975-130013975

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4091G>A; p.R1364H; 23:130028647-130028647

 pancreascarcinomaSubstitution - Missense

c.1203G>A; p.T401T; 23:130013975-130013975

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3793C>T; p.R1265C; 23:130025094-130025094

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4880A>G; p.D1627G; 23:130055880-130055880

 stomachadenocarcinomaSubstitution - Missense

c.2494G>A; p.G832S; 23:130015266-130015266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2494G>A; p.G832S; 23:130015266-130015266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3566A>G; p.E1189G; 23:130021109-130021109

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1034C>T; p.T345M; 23:130013806-130013806

 breastcarcinomaSubstitution - Missense

c.1933C>T; p.P645S; 23:130014705-130014705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4999A>C; p.T1667P; 23:130055999-130055999

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4288G>A; p.V1430I; 23:130028844-130028844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1034C>T; p.T345M; 23:130013806-130013806

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1760C>A; p.T587N; 23:130014532-130014532

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.3449A>G; p.K1150R; 23:130020992-130020992

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1542G>A; p.S514S; 23:130014314-130014314

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.4965G>T; p.E1655D; 23:130055965-130055965

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1542G>A; p.S514S; 23:130014314-130014314

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2911G>T; p.A971S; 23:130015683-130015683

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.4772T>C; p.M1591T; 23:130051935-130051935

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4617T>C; p.S1539S; 23:130039281-130039281

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.528G>T; p.L176F; 23:130013300-130013300

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.4464C>T; p.D1488D; 23:130037525-130037525

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1915C>A; p.R639S; 23:130014687-130014687

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4464C>T; p.D1488D; 23:130037525-130037525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3946G>A; p.E1316K; 23:130025247-130025247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3670C>T; p.R1224C; 23:130022959-130022959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1889G>A; p.R630H; 23:130014661-130014661

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1460A>C; p.D487A; 23:130014232-130014232

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.113C>T; p.S38L; 23:130012604-130012604

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.2821G>A; p.G941S; 23:130015593-130015593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4755A>T; p.Q1585H; 23:130051918-130051918

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3250G>A; p.A1084T; 23:130016022-130016022

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1889G>A; p.R630H; 23:130014661-130014661

 pancreascarcinomaSubstitution - Missense

c.2834G>A; p.R945Q; 23:130015606-130015606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4657C>T; p.P1553S; 23:130050755-130050755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2762C>A; p.P921H; 23:130015534-130015534

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3136C>A; p.L1046M; 23:130015908-130015908

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3555G>A; p.P1185P; 23:130021098-130021098

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

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