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

Basic Information

Gene ID

2070

Name

EYA4

Synonymous

EYA transcriptional coactivator and phosphatase 4;EYA4;EYA transcriptional coactivator and phosphatase 4

Definition

dJ78N10.1 (eyes absent)|eyes absent homolog 4

Position

6q23

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 0.04.

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.1327G>T; p.G443W; 6:133512766-133512766

 bone; humeruschondrosarcomaSubstitution - Missense

c.875C>T; p.A292V; 6:133468636-133468636

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.653G>A; p.G218D; 6:133462693-133462693

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.511G>T; p.G171W; 6:133462408-133462408

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1021G>T; p.E341*; 6:133481513-133481513

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.948C>T; p.L316L; 6:133468709-133468709

 skinmalignant_melanomaSubstitution - coding silent

c.1035G>A; p.R345R; 6:133481527-133481527

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.205G>A; p.G69R; 6:133446751-133446751

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1760G>A; p.R587Q; 6:133525175-133525175

 skinmalignant_melanomaSubstitution - Missense

c.1760G>A; p.R587Q; 6:133525175-133525175

 skinmalignant_melanomaSubstitution - Missense

c.1025G>C; p.R342T; 6:133481517-133481517

 breastcarcinomaSubstitution - Missense

c.1025G>A; p.R342K; 6:133481517-133481517

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867G>A; p.T289T; 6:133468628-133468628

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.953G>A; p.G318E; 6:133468714-133468714

 skinmalignant_melanomaSubstitution - Missense

c.972A>T; p.G324G; 6:133481464-133481464

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.867G>A; p.T289T; 6:133468628-133468628

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1222C>G; p.R408G; 6:133506136-133506136

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1132G>T; p.E378*; 6:133483056-133483056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.278-1G>C; p.?; 6:133456555-133456555

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1044G>A; p.G348G; 6:133481536-133481536

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1044G>A; p.G348G; 6:133481536-133481536

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.431C>A; p.P144H; 6:133461174-133461174

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1421G>A; p.G474E; 6:133512958-133512958

 skinmalignant_melanomaSubstitution - Missense

c.1625G>T; p.C542F; 6:133523064-133523064

 pancreascarcinomaSubstitution - Missense

c.699G>A; p.Q233Q; 6:133462739-133462739

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1882C>A; p.L628M; 6:133528767-133528767

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1502G>A; p.G501E; 6:133515321-133515321

 livercarcinomaSubstitution - Missense

c.1502G>A; p.G501E; 6:133515321-133515321

 livercarcinomaSubstitution - Missense

c.1885G>A; p.A629T; 6:133528770-133528770

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.755A>T; p.Y252F; 6:133464809-133464809

 skinmalignant_melanomaSubstitution - Missense

c.39G>T; p.K13N; 6:133382397-133382397

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1422G>A; p.G474G; 6:133512959-133512959

 skinmalignant_melanomaSubstitution - coding silent

c.979G>A; p.D327N; 6:133481471-133481471

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.199G>A; p.G67R; 6:133446745-133446745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1754T>A; p.F585Y; 6:133525169-133525169

 livercarcinomaSubstitution - Missense

c.1754T>A; p.F585Y; 6:133525169-133525169

 livercarcinomaSubstitution - Missense

c.350T>C; p.L117P; 6:133456628-133456628

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.872G>A; p.G291E; 6:133468633-133468633

 skinmalignant_melanomaSubstitution - Missense

c.872G>A; p.G291E; 6:133468633-133468633

 skinmalignant_melanomaSubstitution - Missense

c.1223G>T; p.R408L; 6:133506137-133506137

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1248T>C; p.L416L; 6:133506162-133506162

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.581-1G>C; p.?; 6:133462620-133462620

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.438-2A>T; p.?; 6:133462333-133462333

 central_nervous_system; braingliomaUnknown

c.812C>A; p.P271Q; 6:133468573-133468573

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1834A>G; p.K612E; 6:133525249-133525249

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.267T>A; p.S89S; 6:133448169-133448169

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.375T>A; p.I125I; 6:133461118-133461118

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.375T>A; p.I125I; 6:133461118-133461118

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>A; p.A506A; 6:133515337-133515337

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>A; p.A506A; 6:133515337-133515337

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.884C>T; p.T295I; 6:133468645-133468645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1300A>G; p.I434V; 6:133512739-133512739

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.428A>C; p.Y143S; 6:133461171-133461171

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.328G>T; p.A110S; 6:133456606-133456606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329C>A; p.A110D; 6:133456607-133456607

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1535T>C; p.L512P; 6:133515354-133515354

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.212delA; p.N72fs*2; 6:133448114-133448114

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.876G>A; p.A292A; 6:133468637-133468637

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.876G>A; p.A292A; 6:133468637-133468637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1166_1167GG>AA; p.G389E; 6:133483090-133483091

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1167G>A; p.G389G; 6:133483091-133483091

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1897G>T; p.A633S; 6:133528782-133528782

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1231G>T; p.E411*; 6:133506145-133506145

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1231G>T; p.E411*; 6:133506145-133506145

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1058G>A; p.G353E; 6:133481550-133481550

 skinmalignant_melanomaSubstitution - Missense

c.454C>G; p.L152V; 6:133462351-133462351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1561C>A; p.L521M; 6:133515380-133515380

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.385G>C; p.G129R; 6:133461128-133461128

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1393C>T; p.L465F; 6:133512930-133512930

 skinmalignant_melanomaSubstitution - Missense

c.385G>C; p.G129R; 6:133461128-133461128

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.141T>C; p.T47T; 6:133446687-133446687

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.223G>T; p.V75F; 6:133448125-133448125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1769A>T; p.Q590L; 6:133525184-133525184

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.949C>T; p.P317S; 6:133468710-133468710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1246C>A; p.L416I; 6:133506160-133506160

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.815C>A; p.S272Y; 6:133468576-133468576

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.710C>T; p.S237F; 6:133462750-133462750

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.829G>A; p.G277S; 6:133468590-133468590

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1595C>G; p.S532C; 6:133515414-133515414

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.193A>C; p.T65P; 6:133446739-133446739

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.829G>A; p.G277S; 6:133468590-133468590

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1181A>C; p.K394T; 6:133483105-133483105

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107C>G; p.A36G; 6:133446653-133446653

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1252G>A; p.D418N; 6:133506166-133506166

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1313C>T; p.S438F; 6:133512752-133512752

 skinmalignant_melanomaSubstitution - Missense

c.248T>C; p.L83P; 6:133448150-133448150

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1149T>C; p.F383F; 6:133483073-133483073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.160G>A; p.E54K; 6:133446706-133446706

 skinmalignant_melanomaSubstitution - Missense

c.1626C>A; p.C542*; 6:133523065-133523065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.887C>T; p.S296L; 6:133468648-133468648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1306G>A; p.D436N; 6:133512745-133512745

 skinmalignant_melanomaSubstitution - Missense

c.1671G>A; p.A557A; 6:133523110-133523110

 breastcarcinomaSubstitution - coding silent

c.650G>A; p.S217N; 6:133462690-133462690

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887C>T; p.S296L; 6:133468648-133468648

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.996C>A; p.P332P; 6:133481488-133481488

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.509C>T; p.S170L; 6:133462406-133462406

 skinmalignant_melanomaSubstitution - Missense

c.996C>A; p.P332P; 6:133481488-133481488

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.49A>T; p.T17S; 6:133382407-133382407

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1643C>T; p.T548M; 6:133523082-133523082

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1643C>T; p.T548M; 6:133523082-133523082

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.16G>A; p.D6N; 6:133274796-133274796

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.613G>T; p.E205*; 6:133462653-133462653

 soft_tissue; blood_vesselangiosarcomaSubstitution - Nonsense

c.16G>A; p.D6N; 6:133274796-133274796

 skin; trunkmalignant_melanomaSubstitution - Missense

c.484G>A; p.A162T; 6:133462381-133462381

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.790A>G; p.S264G; 6:133464844-133464844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.720G>T; p.M240I; 6:133462760-133462760

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.648G>A; p.Q216Q; 6:133462688-133462688

 skinmalignant_melanomaSubstitution - coding silent

c.566G>T; p.S189I; 6:133462463-133462463

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.961A>G; p.N321D; 6:133468722-133468722

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.961A>G; p.N321D; 6:133468722-133468722

 stomachadenocarcinomaSubstitution - Missense

c.1015C>T; p.L339F; 6:133481507-133481507

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.512G>A; p.G171E; 6:133462409-133462409

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.91G>A; p.E31K; 6:133446637-133446637

 skinmalignant_melanomaSubstitution - Missense

c.1615A>G; p.R539G; 6:133515434-133515434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1709T>C; p.I570T; 6:133523148-133523148

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1776T>A; p.F592L; 6:133525191-133525191

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.E71K; 6:133448113-133448113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1324A>G; p.N442D; 6:133512763-133512763

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.455T>C; p.L152P; 6:133462352-133462352

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1912T>A; p.Y638N; 6:133528797-133528797

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.455T>A; p.L152H; 6:133462352-133462352

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.455T>C; p.L152P; 6:133462352-133462352

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.455T>C; p.L152P; 6:133462352-133462352

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.944C>G; p.S315C; 6:133468705-133468705

 oesophaguscarcinomaSubstitution - Missense

c.1484A>G; p.Y495C; 6:133513021-133513021

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.863C>T; p.S288L; 6:133468624-133468624

 skinmalignant_melanomaSubstitution - Missense

c.242G>A; p.W81*; 6:133448144-133448144

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.540C>A; p.A180A; 6:133462437-133462437

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.128G>A; p.G43E; 6:133446674-133446674

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.786T>A; p.N262K; 6:133464840-133464840

 skinmalignant_melanomaSubstitution - Missense

c.639C>T; p.S213S; 6:133462679-133462679

 skinmalignant_melanomaSubstitution - coding silent

c.1525G>A; p.D509N; 6:133515344-133515344

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1287T>G; p.C429W; 6:133512726-133512726

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.298A>C; p.T100P; 6:133456576-133456576

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88A>G; p.M30V; 6:133446634-133446634

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.88A>G; p.M30V; 6:133446634-133446634

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1079C>T; p.P360L; 6:133481571-133481571

 skinmalignant_melanomaSubstitution - Missense

c.1425T>C; p.V475V; 6:133512962-133512962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.900C>T; p.A300A; 6:133468661-133468661

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.963C>A; p.N321K; 6:133468724-133468724

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1571C>T; p.S524F; 6:133515390-133515390

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1501+2T>C; p.?; 6:133513040-133513040

 stomachcarcinoma; adenocarcinomaUnknown

c.1717A>C; p.I573L; 6:133523156-133523156

 skinmalignant_melanomaSubstitution - Missense

c.191C>A; p.T64N; 6:133446737-133446737

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.553G>A; p.G185R; 6:133462450-133462450

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200G>A; p.G67E; 6:133446746-133446746

 skinmalignant_melanomaSubstitution - Missense

c.1273G>A; p.D425N; 6:133506187-133506187

 skinmalignant_melanomaSubstitution - Missense

c.1700C>T; p.A567V; 6:133523139-133523139

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.988C>A; p.Q330K; 6:133481480-133481480

 thyroidcarcinomaSubstitution - Missense

c.686C>A; p.P229Q; 6:133462726-133462726

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1855T>C; p.W619R; 6:133528740-133528740

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.903T>C; p.D301D; 6:133468664-133468664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.822A>T; p.T274T; 6:133468583-133468583

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.903T>C; p.D301D; 6:133468664-133468664

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.822A>T; p.T274T; 6:133468583-133468583

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1831G>T; p.A611S; 6:133525246-133525246

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.466G>T; p.A156S; 6:133462363-133462363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1850C>A; p.P617H; 6:133528735-133528735

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.306C>A; p.P102P; 6:133456584-133456584

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1570T>C; p.S524P; 6:133515389-133515389

 stomachadenocarcinomaSubstitution - Missense

c.63T>A; p.V21V; 6:133382421-133382421

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.306C>A; p.P102P; 6:133456584-133456584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.240C>T; p.D80D; 6:133448142-133448142

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1519A>G; p.K507E; 6:133515338-133515338

 skinmalignant_melanomaSubstitution - Missense

c.1105G>A; p.E369K; 6:133481597-133481597

 skinmalignant_melanomaSubstitution - Missense

c.1012G>A; p.D338N; 6:133481504-133481504

 skinmalignant_melanomaSubstitution - Missense

c.1393C>A; p.L465I; 6:133512930-133512930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134G>A; p.G45D; 6:133446680-133446680

 skinmalignant_melanomaSubstitution - Missense

c.152C>T; p.S51F; 6:133446698-133446698

 skinmalignant_melanomaSubstitution - Missense

c.619G>C; p.G207R; 6:133462659-133462659

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1739-1G>A; p.?; 6:133525153-133525153

 skinmalignant_melanomaUnknown

c.167C>A; p.S56Y; 6:133446713-133446713

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1175C>A; p.A392E; 6:133483099-133483099

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>G; p.P271A; 6:133468572-133468572

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>A; p.D114N; 6:133456618-133456618

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.D34N; 6:133446646-133446646

 skinmalignant_melanomaSubstitution - Missense

c.455T>G; p.L152R; 6:133462352-133462352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.455T>G; p.L152R; 6:133462352-133462352

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.696C>T; p.G232G; 6:133462736-133462736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.455T>G; p.L152R; 6:133462352-133462352

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.329C>T; p.A110V; 6:133456607-133456607

 breastcarcinomaSubstitution - Missense

c.1340G>T; p.S447I; 6:133512779-133512779

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>A; p.V371V; 6:133483037-133483037

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.994C>T; p.P332S; 6:133481486-133481486

 skinmalignant_melanomaSubstitution - Missense

c.1765A>G; p.M589V; 6:133525180-133525180

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.34-6T>G; p.?; 6:133382386-133382386

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1414A>C; p.R472R; 6:133512951-133512951

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1765A>G; p.M589V; 6:133525180-133525180

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.48_49CA>TT; p.C16>?; 6:133382406-133382407

 lungcarcinoma; adenocarcinomaComplex

c.1848G>T; p.M616I; 6:133528733-133528733

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1857G>T; p.W619C; 6:133528742-133528742

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.970+1G>T; p.?; 6:133468732-133468732

 skinmalignant_melanomaUnknown

c.662G>A; p.S221N; 6:133462702-133462702

 breastcarcinomaSubstitution - Missense

c.1576C>G; p.L526V; 6:133515395-133515395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1238T>G; p.I413S; 6:133506152-133506152

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.508T>C; p.S170P; 6:133462405-133462405

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1408G>T; p.G470C; 6:133512945-133512945

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.508T>C; p.S170P; 6:133462405-133462405

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.978C>T; p.F326F; 6:133481470-133481470

 breastcarcinomaSubstitution - coding silent

c.721C>T; p.P241S; 6:133462761-133462761

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.570G>T; p.L190F; 6:133462467-133462467

 breastcarcinomaSubstitution - Missense

c.1231G>A; p.E411K; 6:133506145-133506145

 skinmalignant_melanomaSubstitution - Missense

c.901G>A; p.D301N; 6:133468662-133468662

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.D301N; 6:133468662-133468662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.D301N; 6:133468662-133468662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1109G>A; p.R370H; 6:133483033-133483033

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1231G>A; p.E411K; 6:133506145-133506145

 skinmalignant_melanomaSubstitution - Missense

c.880A>T; p.M294L; 6:133468641-133468641

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1758A>G; p.E586E; 6:133525173-133525173

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1620T>C; p.S540S; 6:133523059-133523059

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4G>A; p.E2K; 6:133274784-133274784

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.579C>T; p.Y193Y; 6:133462476-133462476

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.71C>T; p.S24F; 6:133382429-133382429

 skinmalignant_melanomaSubstitution - Missense

c.579C>T; p.Y193Y; 6:133462476-133462476

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.781A>C; p.T261P; 6:133464835-133464835

 skinmalignant_melanomaSubstitution - Missense

c.678C>T; p.F226F; 6:133462718-133462718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.454C>A; p.L152I; 6:133462351-133462351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1670C>T; p.A557V; 6:133523109-133523109

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.454C>A; p.L152I; 6:133462351-133462351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.454C>A; p.L152I; 6:133462351-133462351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1670C>T; p.A557V; 6:133523109-133523109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1670C>T; p.A557V; 6:133523109-133523109

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.332C>T; p.T111M; 6:133456610-133456610

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; desmoplasticSubstitution - Missense

c.1012delG; p.D338fs*66; 6:133481504-133481504

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.528C>T; p.A176A; 6:133462425-133462425

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1108C>T; p.R370C; 6:133483032-133483032

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.137A>T; p.D46V; 6:133446683-133446683

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1694G>A; p.G565E; 6:133523133-133523133

 skinmalignant_melanomaSubstitution - Missense

c.1697G>C; p.G566A; 6:133523136-133523136

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1727C>T; p.A576V; 6:133523166-133523166

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.485C>A; p.A162D; 6:133462382-133462382

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1259A>G; p.H420R; 6:133506173-133506173

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1259A>G; p.H420R; 6:133506173-133506173

 livercarcinomaSubstitution - Missense

c.1236G>A; p.M412I; 6:133506150-133506150

 skinmalignant_melanomaSubstitution - Missense

c.1236G>A; p.M412I; 6:133506150-133506150

 skinmalignant_melanomaSubstitution - Missense

c.1236G>A; p.M412I; 6:133506150-133506150

 skinmalignant_melanomaSubstitution - Missense

c.1865C>T; p.S622F; 6:133528750-133528750

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.952G>A; p.G318R; 6:133468713-133468713

 skinmalignant_melanomaSubstitution - Missense

c.15G>A; p.Q5Q; 6:133274795-133274795

 skinmalignant_melanomaSubstitution - coding silent

c.1140C>A; p.I380I; 6:133483064-133483064

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.804+1G>A; p.?; 6:133464859-133464859

 lungcarcinoma; adenocarcinomaUnknown

c.1191+4A>C; p.?; 6:133483119-133483119

 oesophaguscarcinoma; adenocarcinomaUnknown

c.615G>T; p.E205D; 6:133462655-133462655

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.V177I; 6:133462426-133462426

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.V177I; 6:133462426-133462426

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.529G>A; p.V177I; 6:133462426-133462426

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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