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

Basic Information

Gene ID

1756

Name

DMD

Synonymous

dystrophin;DMD;dystrophin

Definition

-

Position

Xp21.2

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 0.12.

The copy number variations for various cancers

Top

There is no record for DMD

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.3197G>A; p.R1066H; 23:31147495-31147495

 pancreascarcinomaSubstitution - Missense

c.3208C>A; p.Q1070K; 23:31147484-31147484

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3197G>A; p.R1066H; 23:31147495-31147495

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.3197G>A; p.R1066H; 23:31147495-31147495

 pancreascarcinomaSubstitution - Missense

c.3197G>A; p.R1066H; 23:31147495-31147495

 pancreascarcinomaSubstitution - Missense

c.2449G>A; p.E817K; 23:31182883-31182883

 skinmalignant_melanomaSubstitution - Missense

c.1803G>T; p.W601C; 23:31323639-31323639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1220A>G; p.E407G; 23:31479051-31479051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205G>T; p.E69*; 23:31729706-31729706

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.115A>T; p.M39L; 23:31774007-31774007

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205G>T; p.E69*; 23:31729706-31729706

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2061C>A; p.I687I; 23:31209620-31209620

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1093G>A; p.D365N; 23:31496862-31496862

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2189G>A; p.R730Q; 23:31206662-31206662

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2843+1G>T; p.?; 23:31178668-31178668

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.2189G>A; p.R730Q; 23:31206662-31206662

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1619G>A; p.R540H; 23:31444566-31444566

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1619G>A; p.R540H; 23:31444566-31444566

 breastcarcinomaSubstitution - Missense

c.1619G>A; p.R540H; 23:31444566-31444566

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>G; p.R389G; 23:31496790-31496790

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3368A>G; p.N1123S; 23:31147324-31147324

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.2194G>T; p.G732W; 23:31206657-31206657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3216A>G; p.E1072E; 23:31147476-31147476

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.799G>T; p.D267Y; 23:31627711-31627711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2008T>G; p.C670G; 23:31209673-31209673

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.3464C>T; p.S1155F; 23:31146368-31146368

 livercarcinomaSubstitution - Missense

c.1432G>A; p.E478K; 23:31478231-31478231

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3464C>T; p.S1155F; 23:31146368-31146368

 livercarcinomaSubstitution - Missense

c.255G>T; p.E85D; 23:31729656-31729656

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.54T>C; p.A18A; 23:31774068-31774068

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3345G>T; p.R1115S; 23:31147347-31147347

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1968G>A; p.Q656Q; 23:31223060-31223060

 breastcarcinomaSubstitution - coding silent

c.468C>T; p.I156I; 23:31679399-31679399

 skinmalignant_melanomaSubstitution - coding silent

c.1507G>A; p.V503M; 23:31478156-31478156

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1507G>A; p.V503M; 23:31478156-31478156

 pancreascarcinomaSubstitution - Missense

c.2384G>A; p.G795E; 23:31204004-31204004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1507G>A; p.V503M; 23:31478156-31478156

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1471C>T; p.R491C; 23:31478192-31478192

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.493-1G>T; p.?; 23:31658145-31658145

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1866C>A; p.C622*; 23:31260995-31260995

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2564T>A; p.I855N; 23:31182768-31182768

 breastcarcinomaSubstitution - Missense

c.1471C>T; p.R491C; 23:31478192-31478192

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.162+5G>A; p.?; 23:31773955-31773955

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.349G>A; p.E117K; 23:31679518-31679518

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.492G>T; p.K164N; 23:31679375-31679375

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3612C>A; p.N1204K; 23:31134124-31134124

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1310C>A; p.A437D; 23:31478353-31478353

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2430T>G; p.A810A; 23:31182902-31182902

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3310C>A; p.L1104I; 23:31147382-31147382

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.217G>A; p.A73T; 23:31729694-31729694

 ovaryother; neoplasmSubstitution - Missense

c.217G>A; p.A73T; 23:31729694-31729694

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2705C>T; p.P902L; 23:31180371-31180371

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.15G>T; p.L5F; 23:31774107-31774107

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.895A>G; p.S299G; 23:31507396-31507396

 breastcarcinomaSubstitution - Missense

c.706_707insC; p.L236fs*14; 23:31627803-31627804

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3123G>A; p.E1041E; 23:31169493-31169493

 oesophaguscarcinomaSubstitution - coding silent

c.2867G>T; p.W956L; 23:31177947-31177947

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1109G>A; p.R370Q; 23:31496846-31496846

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1570G>T; p.E524*; 23:31444615-31444615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.702C>T; p.F234F; 23:31627808-31627808

 skinmalignant_melanomaSubstitution - coding silent

c.1289-1G>A; p.?; 23:31478375-31478375

 lungcarcinoma; adenocarcinomaUnknown

c.526A>C; p.N176H; 23:31658111-31658111

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1300G>T; p.E434*; 23:31478363-31478363

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2611C>A; p.H871N; 23:31180465-31180465

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3541+5G>A; p.?; 23:31146286-31146286

 bone; tibiachondrosarcomaUnknown

c.1321A>G; p.T441A; 23:31478342-31478342

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1321A>G; p.T441A; 23:31478342-31478342

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3263C>T; p.T1088I; 23:31147429-31147429

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.892A>G; p.N298D; 23:31507399-31507399

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.293A>G; p.Q98R; 23:31679574-31679574

 breastcarcinomaSubstitution - Missense

c.1672G>A; p.E558K; 23:31444513-31444513

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2855T>G; p.L952R; 23:31177959-31177959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2761C>T; p.R921*; 23:31178751-31178751

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2001A>T; p.S667S; 23:31209680-31209680

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2269+7C>T; p.?; 23:31206575-31206575

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.992_1001del10; p.K331fs*30; 23:31507290-31507299

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.2784G>A; p.K928K; 23:31178728-31178728

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1507G>T; p.V503L; 23:31478156-31478156

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2219A>C; p.K740T; 23:31206632-31206632

 breastcarcinomaSubstitution - Missense

c.1378C>T; p.L460L; 23:31478285-31478285

 pancreascarcinomaSubstitution - coding silent

c.2759T>G; p.F920C; 23:31178753-31178753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3575C>T; p.T1192I; 23:31134161-31134161

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.R370R; 23:31496845-31496845

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2882+1G>A; p.?; 23:31177931-31177931

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.3388T>A; p.L1130I; 23:31147304-31147304

 skinmalignant_melanomaSubstitution - Missense

c.3664G>C; p.E1222Q; 23:31126644-31126644

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1027A>G; p.S343G; 23:31496928-31496928

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1844+1G>T; p.?; 23:31323597-31323597

 endometriumcarcinoma; serous_carcinomaUnknown

c.973A>T; p.K325*; 23:31507318-31507318

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3365A>G; p.H1122R; 23:31147327-31147327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.51G>A; p.R17R; 23:31774071-31774071

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3318T>C; p.R1106R; 23:31147374-31147374

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.51G>A; p.R17R; 23:31774071-31774071

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3318T>C; p.R1106R; 23:31147374-31147374

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3318T>C; p.R1106R; 23:31147374-31147374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3318T>C; p.R1106R; 23:31147374-31147374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3094G>A; p.A1032T; 23:31169522-31169522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313C>G; p.Q105E; 23:31679554-31679554

 thyroidother; neoplasmSubstitution - Missense

c.1513G>A; p.D505N; 23:31478150-31478150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1533C>G; p.L511L; 23:31478130-31478130

 breastcarcinomaSubstitution - coding silent

c.1325G>A; p.R442Q; 23:31478338-31478338

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2843C>A; p.T948N; 23:31178669-31178669

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1305G>C; p.E435D; 23:31478358-31478358

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.307G>A; p.E103K; 23:31679560-31679560

 breastcarcinomaSubstitution - Missense

c.1417C>A; p.L473I; 23:31478246-31478246

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Missense

c.3311T>C; p.L1104P; 23:31147381-31147381

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1784C>T; p.T595M; 23:31323658-31323658

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2946C>A; p.S982R; 23:31173541-31173541

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1326G>T; p.R442R; 23:31478337-31478337

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3087T>C; p.R1029R; 23:31169529-31169529

 pancreascarcinomaSubstitution - coding silent

c.3087T>C; p.R1029R; 23:31169529-31169529

 pancreascarcinomaSubstitution - coding silent

c.2792G>A; p.R931Q; 23:31178720-31178720

 skinmalignant_melanomaSubstitution - Missense

c.2792G>A; p.R931Q; 23:31178720-31178720

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2792G>A; p.R931Q; 23:31178720-31178720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2792G>A; p.R931Q; 23:31178720-31178720

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1228C>T; p.R410*; 23:31479043-31479043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2657T>C; p.V886A; 23:31180419-31180419

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.375G>A; p.W125*; 23:31679492-31679492

 skinmalignant_melanomaSubstitution - Nonsense

c.302G>C; p.W101S; 23:31679565-31679565

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2036A>G; p.K679R; 23:31209645-31209645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1492G>T; p.G498*; 23:31478171-31478171

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2287G>A; p.A763T; 23:31204101-31204101

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3073delC; p.L1025fs*1; 23:31169543-31169543

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2287G>A; p.A763T; 23:31204101-31204101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1531C>G; p.L511V; 23:31478132-31478132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3278C>T; p.P1093L; 23:31147414-31147414

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2204G>A; p.R735H; 23:31206647-31206647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.332G>A; p.R111Q; 23:31679535-31679535

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2204G>A; p.R735H; 23:31206647-31206647

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3617C>G; p.S1206C; 23:31134119-31134119

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.676G>T; p.E226*; 23:31627834-31627834

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3661A>G; p.R1221G; 23:31126647-31126647

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.555G>A; p.L185L; 23:31658082-31658082

 breastcarcinomaSubstitution - coding silent

c.1608T>C; p.N536N; 23:31444577-31444577

 skinmalignant_melanomaSubstitution - coding silent

c.3137T>A; p.L1046Q; 23:31169479-31169479

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3G>A; p.M1I; 23:31774119-31774119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.40G>T; p.D14Y; 23:31774082-31774082

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1578G>A; p.A526A; 23:31444607-31444607

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.992_1002del11; p.K332fs*2; 23:31507289-31507299

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1652C>T; p.P551L; 23:31444533-31444533

 skinmalignant_melanomaSubstitution - Missense

c.272C>T; p.T91M; 23:31729639-31729639

 central_nervous_system; braingliomaSubstitution - Missense

c.3336G>A; p.L1112L; 23:31147356-31147356

 skinmalignant_melanomaSubstitution - coding silent

c.719A>C; p.K240T; 23:31627791-31627791

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1817C>T; p.S606L; 23:31323625-31323625

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1328T>G; p.L443R; 23:31478335-31478335

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.272C>T; p.T91M; 23:31729639-31729639

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1817C>T; p.S606L; 23:31323625-31323625

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272C>T; p.T91M; 23:31729639-31729639

 prostatecarcinomaSubstitution - Missense

c.272C>T; p.T91M; 23:31729639-31729639

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.272C>T; p.T91M; 23:31729639-31729639

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.88G>A; p.D30N; 23:31774034-31774034

 breastcarcinomaSubstitution - Missense

c.268A>C; p.I90L; 23:31729643-31729643

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.3585G>A; p.G1195G; 23:31134151-31134151

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - coding silent

c.1748_1749GG>AA; p.R583K; 23:31348590-31348591

 NSmalignant_melanomaSubstitution - Missense

c.1685C>A; p.T562N; 23:31444500-31444500

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.191G>A; p.R64H; 23:31729720-31729720

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.808G>A; p.G270R; 23:31627702-31627702

 skinmalignant_melanomaSubstitution - Missense

c.191G>A; p.R64H; 23:31729720-31729720

 pancreascarcinomaSubstitution - Missense

c.623C>G; p.A208G; 23:31658014-31658014

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1848C>G; p.H616Q; 23:31261013-31261013

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.241A>G; p.T81A; 23:31729670-31729670

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2728C>T; p.R910*; 23:31178784-31178784

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3351A>C; p.Q1117H; 23:31147341-31147341

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2788C>T; p.P930S; 23:31178724-31178724

 skinmalignant_melanomaSubstitution - Missense

c.1470G>A; p.L490L; 23:31478193-31478193

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1220A>T; p.E407V; 23:31479051-31479051

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1901C>A; p.S634Y; 23:31260960-31260960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.50G>A; p.R17Q; 23:31774072-31774072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.665C>A; p.A222D; 23:31627845-31627845

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.686G>C; p.R229T; 23:31627824-31627824

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1603G>A; p.V535I; 23:31444582-31444582

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2204G>C; p.R735P; 23:31206647-31206647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1108C>T; p.R370W; 23:31496847-31496847

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1108C>T; p.R370W; 23:31496847-31496847

 skinmalignant_melanomaSubstitution - Missense

c.1558-1G>A; p.?; 23:31444628-31444628

 skinmalignant_melanomaUnknown

c.3623C>T; p.P1208L; 23:31134113-31134113

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1219G>T; p.E407*; 23:31479052-31479052

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.950G>T; p.R317I; 23:31507341-31507341

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3279C>A; p.P1093P; 23:31147413-31147413

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2392A>G; p.N798D; 23:31203996-31203996

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1928T>G; p.F643C; 23:31223100-31223100

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2509G>A; p.V837I; 23:31182823-31182823

 breastcarcinomaSubstitution - Missense

c.810A>T; p.G270G; 23:31627700-31627700

 skinmalignant_melanomaSubstitution - coding silent

c.3621C>A; p.F1207L; 23:31134115-31134115

 breastcarcinomaSubstitution - Missense

c.1804G>A; p.E602K; 23:31323638-31323638

 skinmalignant_melanomaSubstitution - Missense

c.3214G>A; p.E1072K; 23:31147478-31147478

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2050C>T; p.P684S; 23:31209631-31209631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>A; p.E407K; 23:31479052-31479052

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.816A>C; p.K272N; 23:31627694-31627694

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.234A>G; p.K78K; 23:31729677-31729677

 central_nervous_system; braingliomaSubstitution - coding silent

c.1334G>A; p.R445Q; 23:31478329-31478329

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1559C>T; p.A520V; 23:31444626-31444626

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2835C>A; p.N945K; 23:31178677-31178677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2409C>T; p.V803V; 23:31203979-31203979

 skinmalignant_melanomaSubstitution - coding silent

c.2955A>G; p.A985A; 23:31172407-31172407

 skinmalignant_melanomaSubstitution - coding silent

c.3488G>A; p.S1163N; 23:31146344-31146344

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1966C>A; p.Q656K; 23:31223062-31223062

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1204A>T; p.I402F; 23:31479067-31479067

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2619T>A; p.N873K; 23:31180457-31180457

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2203delC; p.R735fs*88; 23:31206648-31206648

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.3317G>A; p.R1106H; 23:31147375-31147375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3317G>A; p.R1106H; 23:31147375-31147375

 pancreascarcinomaSubstitution - Missense

c.277C>T; p.R93*; 23:31729634-31729634

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.838-10T>G; p.?; 23:31507463-31507463

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.277C>T; p.R93*; 23:31729634-31729634

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.277C>T; p.R93*; 23:31729634-31729634

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.277C>T; p.R93*; 23:31729634-31729634

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1513G>T; p.D505Y; 23:31478150-31478150

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2379C>A; p.S793S; 23:31204009-31204009

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.364T>G; p.S122A; 23:31679503-31679503

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1653G>A; p.P551P; 23:31444532-31444532

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1080G>A; p.W360*; 23:31496875-31496875

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2935C>A; p.H979N; 23:31173552-31173552

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.459delA; p.D154fs*24; 23:31679408-31679408

 skin; solemalignant_melanomaDeletion - Frameshift

c.3571G>C; p.D1191H; 23:31134165-31134165

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1831C>G; p.P611A; 23:31323611-31323611

 breastcarcinomaSubstitution - Missense

c.486A>G; p.E162E; 23:31679381-31679381

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1221G>A; p.E407E; 23:31479050-31479050

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.904delA; p.I302fs*2; 23:31507387-31507387

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3474A>G; p.L1158L; 23:31146358-31146358

 livercarcinomaSubstitution - coding silent

c.3474A>G; p.L1158L; 23:31146358-31146358

 livercarcinomaSubstitution - coding silent

c.3474A>G; p.L1158L; 23:31146358-31146358

 livercarcinomaSubstitution - coding silent

c.20T>C; p.L7S; 23:31774102-31774102

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1605C>A; p.V535V; 23:31444580-31444580

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1012T>G; p.S338A; 23:31496943-31496943

 livercarcinomaSubstitution - Missense

c.917T>A; p.L306Q; 23:31507374-31507374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3470C>A; p.S1157Y; 23:31146362-31146362

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2882C>T; p.A961V; 23:31177932-31177932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1161A>G; p.V387V; 23:31496794-31496794

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3407T>C; p.L1136P; 23:31147285-31147285

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1070T>G; p.L357R; 23:31496885-31496885

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1877C>A; p.P626H; 23:31260984-31260984

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1070T>G; p.L357R; 23:31496885-31496885

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1629C>A; p.T543T; 23:31444556-31444556

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1076T>G; p.V359G; 23:31496879-31496879

 breastcarcinomaSubstitution - Missense

c.5C>T; p.P2L; 23:31774117-31774117

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2448C>T; p.I816I; 23:31182884-31182884

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2448C>T; p.I816I; 23:31182884-31182884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3642T>A; p.N1214K; 23:31126666-31126666

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2448C>T; p.I816I; 23:31182884-31182884

 skinmalignant_melanomaSubstitution - coding silent

c.1453G>A; p.E485K; 23:31478210-31478210

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.316G>C; p.E106Q; 23:31679551-31679551

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.562C>A; p.L188I; 23:31658075-31658075

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1619G>T; p.R540L; 23:31444566-31444566

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.934G>T; p.A312S; 23:31507357-31507357

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.348T>C; p.N116N; 23:31679519-31679519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1107C>A; p.S369R; 23:31496848-31496848

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3238C>T; p.P1080S; 23:31147454-31147454

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1580C>A; p.P527H; 23:31444605-31444605

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1577C>T; p.A526V; 23:31444608-31444608

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.767A>T; p.Q256L; 23:31627743-31627743

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3541G>T; p.G1181C; 23:31146291-31146291

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1577C>T; p.A526V; 23:31444608-31444608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3617C>T; p.S1206F; 23:31134119-31134119

 skinmalignant_melanomaSubstitution - Missense

c.598C>T; p.H200Y; 23:31658039-31658039

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2751A>C; p.K917N; 23:31178761-31178761

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1239G>T; p.L413L; 23:31479032-31479032

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.49C>T; p.R17W; 23:31774073-31774073

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3316C>T; p.R1106C; 23:31147376-31147376

 pancreasNSSubstitution - Missense

c.3316C>T; p.R1106C; 23:31147376-31147376

 breastcarcinomaSubstitution - Missense

c.216C>T; p.T72T; 23:31729695-31729695

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1399A>T; p.R467*; 23:31478264-31478264

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3316C>T; p.R1106C; 23:31147376-31147376

 kidneyother; neoplasmSubstitution - Missense

c.2477G>A; p.R826K; 23:31182855-31182855

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3483C>T; p.S1161S; 23:31146349-31146349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1546G>A; p.E516K; 23:31478117-31478117

 breastcarcinomaSubstitution - Missense

c.278G>A; p.R93Q; 23:31729633-31729633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278G>A; p.R93Q; 23:31729633-31729633

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.278G>A; p.R93Q; 23:31729633-31729633

 breastcarcinomaSubstitution - Missense

c.2975G>T; p.G992V; 23:31172387-31172387

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2836A>T; p.M946L; 23:31178676-31178676

 skinmalignant_melanomaSubstitution - Missense

c.1894T>C; p.Y632H; 23:31260967-31260967

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.R189W; 23:31658072-31658072

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.988C>T; p.R330W; 23:31507303-31507303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.988C>T; p.R330W; 23:31507303-31507303

 breastcarcinomaSubstitution - Missense

c.2637C>A; p.S879R; 23:31180439-31180439

 breastcarcinomaSubstitution - Missense

c.3449C>T; p.T1150M; 23:31146383-31146383

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2267G>A; p.R756K; 23:31206584-31206584

 skinmalignant_melanomaSubstitution - Missense

c.1439A>C; p.Q480P; 23:31478224-31478224

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3404A>T; p.Q1135L; 23:31147288-31147288

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.287G>T; p.R96I; 23:31679580-31679580

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.287G>T; p.R96I; 23:31679580-31679580

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.706delC; p.L236fs*30; 23:31627804-31627804

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.336G>T; p.R112S; 23:31679531-31679531

 oesophaguscarcinomaSubstitution - Missense

c.134A>G; p.D45G; 23:31773988-31773988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.630G>A; p.W210*; 23:31658007-31658007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.910A>T; p.R304*; 23:31507381-31507381

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1741G>A; p.A581T; 23:31348598-31348598

 livercarcinomaSubstitution - Missense

c.1859C>A; p.T620K; 23:31261002-31261002

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.972C>A; p.F324L; 23:31507319-31507319

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2342C>G; p.S781C; 23:31204046-31204046

 pancreasNSSubstitution - Missense

c.1792C>T; p.Q598*; 23:31323650-31323650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2342C>G; p.S781C; 23:31204046-31204046

 pancreascarcinomaSubstitution - Missense

c.61G>A; p.E21K; 23:31774061-31774061

 skinmalignant_melanomaSubstitution - Missense

c.1849G>A; p.E617K; 23:31261012-31261012

 breastcarcinomaSubstitution - Missense

c.1160T>C; p.V387A; 23:31496795-31496795

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.853delA; p.I285fs*19; 23:31507438-31507438

 breastcarcinomaDeletion - Frameshift

c.3645C>A; p.T1215T; 23:31126663-31126663

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2843+9T>C; p.?; 23:31178660-31178660

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.2600G>T; p.R867M; 23:31180476-31180476

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2143G>T; p.V715L; 23:31209538-31209538

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1400G>T; p.R467I; 23:31478263-31478263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3355C>A; p.L1119M; 23:31147337-31147337

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3062A>G; p.Q1021R; 23:31169554-31169554

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.31G>C; p.A11P; 23:31774091-31774091

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2574G>T; p.E858D; 23:31182758-31182758

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3016G>T; p.D1006Y; 23:31169600-31169600

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3395G>C; p.R1132T; 23:31147297-31147297

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.141C>T; p.N47N; 23:31773981-31773981

 pancreascarcinomaSubstitution - coding silent

c.3303G>T; p.E1101D; 23:31147389-31147389

 breastcarcinomaSubstitution - Missense

')