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

Basic Information

Gene ID

4978

Name

OPCML

Synonymous

opioid binding protein/cell adhesion molecule-like;OPCML;opioid binding protein/cell adhesion molecule-like

Definition

IgLON family member 1|opioid binding protein/cell adhesion molecule-like preprotein|opioid-binding protein/cell adhesion molecule

Position

11q25

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 0.03.

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.152A>G; p.E51G; 11:132942941-132942941

thyroidcarcinomaSubstitution - Missense

c.875G>T; p.G292V; 11:132436148-132436148

livercarcinomaSubstitution - Missense

c.875G>T; p.G292V; 11:132436148-132436148

livercarcinomaSubstitution - Missense

c.659T>A; p.V220E; 11:132437227-132437227

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.53C>A; p.S18Y; 11:132943040-132943040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.165C>T; p.L55L; 11:132942928-132942928

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.633C>T; p.P211P; 11:132437253-132437253

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.869A>T; p.D290V; 11:132436154-132436154

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.633C>T; p.P211P; 11:132437253-132437253

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.432C>A; p.D144E; 11:132529155-132529155

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.815T>A; p.I272N; 11:132436208-132436208

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260G>A; p.R87H; 11:132657227-132657227

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.991C>T; p.L331F; 11:132420240-132420240

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.812G>T; p.R271M; 11:132436211-132436211

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.283C>T; p.P95S; 11:132657204-132657204

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.283C>T; p.P95S; 11:132657204-132657204

urinary_tract; bladdercarcinomaSubstitution - Missense

c.283C>T; p.P95S; 11:132657204-132657204

urinary_tract; bladdercarcinomaSubstitution - Missense

c.208A>C; p.N70H; 11:132657279-132657279

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.212G>A; p.R71H; 11:132657275-132657275

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.609C>A; p.S203R; 11:132437277-132437277

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.786-1G>T; p.?; 11:132436238-132436238

lungcarcinoma; squamous_cell_carcinomaUnknown

c.782C>T; p.T261I; 11:132436662-132436662

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.350T>C; p.V117A; 11:132657137-132657137

urinary_tract; bladdercarcinomaSubstitution - Missense

c.350T>C; p.V117A; 11:132657137-132657137

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.350T>C; p.V117A; 11:132657137-132657137

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1011C>A; p.L337L; 11:132420220-132420220

breastcarcinomaSubstitution - coding silent

c.1011C>A; p.L337L; 11:132420220-132420220

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.584A>G; p.D195G; 11:132437302-132437302

livercarcinomaSubstitution - Missense

c.205C>T; p.L69L; 11:132657282-132657282

skinmalignant_melanomaSubstitution - coding silent

c.691A>G; p.N231D; 11:132436753-132436753

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.432C>T; p.D144D; 11:132529155-132529155

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.432C>T; p.D144D; 11:132529155-132529155

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.367C>T; p.P123S; 11:132657120-132657120

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367C>T; p.P123S; 11:132657120-132657120

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1016C>T; p.A339V; 11:132420215-132420215

skinmalignant_melanomaSubstitution - Missense

c.1036T>C; p.*346R; 11:132420195-132420195

stomachcarcinoma; adenocarcinomaNonstop extension

c.1037G>C; p.*346S; 11:132420194-132420194

large_intestine; rectumcarcinoma; adenocarcinomaNonstop extension

c.850T>G; p.F284V; 11:132436173-132436173

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.95G>T; p.R32L; 11:132942998-132942998

urinary_tract; bladdercarcinomaSubstitution - Missense

c.401-5T>A; p.?; 11:132529191-132529191

stomachadenocarcinomaUnknown

c.530G>T; p.G177V; 11:132437356-132437356

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.445G>A; p.E149K; 11:132529142-132529142

skinmalignant_melanomaSubstitution - Missense

c.737C>G; p.A246G; 11:132436707-132436707

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.751A>G; p.M251V; 11:132436693-132436693

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.211C>T; p.R71C; 11:132657276-132657276

skinmalignant_melanomaSubstitution - Missense

c.211C>T; p.R71C; 11:132657276-132657276

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.211C>T; p.R71C; 11:132657276-132657276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.717G>T; p.K239N; 11:132436727-132436727

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695C>T; p.T232I; 11:132436749-132436749

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.730T>C; p.C244R; 11:132436714-132436714

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.461C>T; p.T154I; 11:132529126-132529126

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.R214W; 11:132437246-132437246

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.33G>A; p.W11*; 11:132943060-132943060

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.273G>T; p.L91L; 11:132657214-132657214

breastcarcinomaSubstitution - coding silent

c.364C>T; p.H122Y; 11:132657123-132657123

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.364C>T; p.H122Y; 11:132657123-132657123

urinary_tract; bladdercarcinomaSubstitution - Missense

c.965A>T; p.N322I; 11:132420266-132420266

urinary_tract; bladdercarcinomaSubstitution - Missense

c.364C>T; p.H122Y; 11:132657123-132657123

urinary_tract; bladdercarcinomaSubstitution - Missense

c.940C>T; p.P314S; 11:132420291-132420291

skinmalignant_melanomaSubstitution - Missense

c.613T>G; p.L205V; 11:132437273-132437273

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.601G>C; p.E201Q; 11:132437285-132437285

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50T>C; p.V17A; 11:132943043-132943043

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.502A>G; p.T168A; 11:132529085-132529085

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.374C>T; p.T125M; 11:132657113-132657113

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.291G>C; p.Q97H; 11:132657196-132657196

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.291G>C; p.Q97H; 11:132657196-132657196

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.618C>A; p.N206K; 11:132437268-132437268

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.468G>T; p.L156L; 11:132529119-132529119

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.234G>A; p.G78G; 11:132657253-132657253

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.316G>A; p.D106N; 11:132657171-132657171

skinmalignant_melanomaSubstitution - Missense

c.462C>T; p.T154T; 11:132529125-132529125

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.900C>A; p.N300K; 11:132436123-132436123

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.218C>A; p.T73N; 11:132657269-132657269

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.218C>A; p.T73N; 11:132657269-132657269

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.671C>T; p.P224L; 11:132436773-132436773

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.157G>A; p.A53T; 11:132942936-132942936

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.625G>T; p.A209S; 11:132437261-132437261

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.796G>T; p.G266C; 11:132436227-132436227

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.610G>A; p.A204T; 11:132437276-132437276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.610G>A; p.A204T; 11:132437276-132437276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.297delC; p.S99fs*3; 11:132657190-132657190

skinmalignant_melanomaDeletion - Frameshift

c.509G>A; p.R170K; 11:132529078-132529078

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.612G>A; p.A204A; 11:132437274-132437274

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.612G>A; p.A204A; 11:132437274-132437274

pancreascarcinomaSubstitution - coding silent

c.297delC; p.S99fs*3; 11:132657190-132657190

skinmalignant_melanomaDeletion - Frameshift

c.612G>A; p.A204A; 11:132437274-132437274

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.624C>T; p.V208V; 11:132437262-132437262

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.624C>T; p.V208V; 11:132437262-132437262

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.173_174CC>AA; p.T58>?; 11:132657313-132657314

urinary_tract; bladdercarcinomaComplex

c.284C>T; p.P95L; 11:132657203-132657203

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.174C>A; p.T58T; 11:132657313-132657313

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.522C>A; p.V174V; 11:132529065-132529065

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1011C>T; p.L337L; 11:132420220-132420220

pancreascarcinomaSubstitution - coding silent

c.712C>A; p.Q238K; 11:132436732-132436732

pancreascarcinomaSubstitution - Missense

c.641G>C; p.R214P; 11:132437245-132437245

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>T; p.R32C; 11:132942999-132942999

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.642G>A; p.R214R; 11:132437244-132437244

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.530G>A; p.G177D; 11:132437356-132437356

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.704C>T; p.S235L; 11:132436740-132436740

skinmalignant_melanomaSubstitution - Missense

c.453C>T; p.S151S; 11:132529134-132529134

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.330A>C; p.E110D; 11:132657157-132657157

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.789A>G; p.L263L; 11:132436234-132436234

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.601G>A; p.E201K; 11:132437285-132437285

skinmalignant_melanomaSubstitution - Missense

c.69C>T; p.F23F; 11:132943024-132943024

skinmalignant_melanomaSubstitution - coding silent

c.601G>A; p.E201K; 11:132437285-132437285

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.601G>A; p.E201K; 11:132437285-132437285

skin; armmalignant_melanomaSubstitution - Missense

c.992T>A; p.L331H; 11:132420239-132420239

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.149G>A; p.G50E; 11:132942944-132942944

skinmalignant_melanomaSubstitution - Missense

c.250A>G; p.I84V; 11:132657237-132657237

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.716A>C; p.K239T; 11:132436728-132436728

skinmalignant_melanomaSubstitution - Missense

c.24C>T; p.F8F; 11:132943069-132943069

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.991C>A; p.L331I; 11:132420240-132420240

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.240C>A; p.D80E; 11:132657247-132657247

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.137C>T; p.T46M; 11:132942956-132942956

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.137C>T; p.T46M; 11:132942956-132942956

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.137C>T; p.T46M; 11:132942956-132942956

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.352C>G; p.Q118E; 11:132657135-132657135

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.987T>G; p.A329A; 11:132420244-132420244

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.33G>T; p.W11C; 11:132943060-132943060

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.882T>C; p.Y294Y; 11:132436141-132436141

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.173C>A; p.T58N; 11:132657314-132657314

urinary_tract; bladdercarcinomaSubstitution - Missense

c.326A>C; p.D109A; 11:132657161-132657161

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>A; p.E110K; 11:132657159-132657159

skinmalignant_melanomaSubstitution - Missense

c.328G>A; p.E110K; 11:132657159-132657159

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654C>T; p.I218I; 11:132437232-132437232

skinmalignant_melanomaSubstitution - coding silent

c.581G>A; p.R194Q; 11:132437305-132437305

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.621T>G; p.D207E; 11:132437265-132437265

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.114C>T; p.F38F; 11:132942979-132942979

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.611C>T; p.A204V; 11:132437275-132437275

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.156C>T; p.S52S; 11:132942937-132942937

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.611C>T; p.A204V; 11:132437275-132437275

oesophaguscarcinomaSubstitution - Missense

c.133G>T; p.V45L; 11:132942960-132942960

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.621T>C; p.D207D; 11:132437265-132437265

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.621T>C; p.D207D; 11:132437265-132437265

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.686C>T; p.A229V; 11:132436758-132436758

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.449G>A; p.G150E; 11:132529138-132529138

skinmalignant_melanomaSubstitution - Missense

c.156C>A; p.S52R; 11:132942937-132942937

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.293A>G; p.Y98C; 11:132657194-132657194

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>A; p.D184N; 11:132437336-132437336

skinmalignant_melanomaSubstitution - Missense

c.600C>T; p.Y200Y; 11:132437286-132437286

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - coding silent

c.600C>T; p.Y200Y; 11:132437286-132437286

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.600C>T; p.Y200Y; 11:132437286-132437286

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.228C>T; p.Y76Y; 11:132657259-132657259

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.228C>T; p.Y76Y; 11:132657259-132657259

pancreascarcinomaSubstitution - coding silent

c.610G>T; p.A204S; 11:132437276-132437276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355A>G; p.T119A; 11:132657132-132657132

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987T>C; p.A329A; 11:132420244-132420244

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.897G>A; p.T299T; 11:132436126-132436126

skinmalignant_melanomaSubstitution - coding silent

c.665-11_665-10delGT; p.?; 11:132436789-132436790

skinmalignant_melanomaUnknown

c.641G>A; p.R214Q; 11:132437245-132437245

urinary_tract; bladdercarcinomaSubstitution - Missense

c.830G>C; p.R277P; 11:132436193-132436193

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.761T>C; p.F254S; 11:132436683-132436683

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.689A>G; p.K230R; 11:132436755-132436755

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.630G>A; p.A210A; 11:132437256-132437256

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.845C>A; p.T282N; 11:132436178-132436178

pancreascarcinomaSubstitution - Missense

c.630G>A; p.A210A; 11:132437256-132437256

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.834G>A; p.M278I; 11:132436189-132436189

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.629C>T; p.A210V; 11:132437257-132437257

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.336G>A; p.P112P; 11:132657151-132657151

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.336G>A; p.P112P; 11:132657151-132657151

central_nervous_system; braingliomaSubstitution - coding silent

c.335C>T; p.P112L; 11:132657152-132657152

skinmalignant_melanomaSubstitution - Missense

c.335C>T; p.P112L; 11:132657152-132657152

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.748C>T; p.P250S; 11:132436696-132436696

skinmalignant_melanomaSubstitution - Missense

c.525G>T; p.K175N; 11:132529062-132529062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.525G>T; p.K175N; 11:132529062-132529062

ovaryother; neoplasmSubstitution - Missense

c.99C>T; p.S33S; 11:132942994-132942994

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.280A>T; p.T94S; 11:132657207-132657207

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.765G>C; p.Q255H; 11:132436679-132436679

livercarcinomaSubstitution - Missense

c.774G>A; p.K258K; 11:132436670-132436670

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.765G>C; p.Q255H; 11:132436679-132436679

livercarcinomaSubstitution - Missense

c.640C>A; p.R214R; 11:132437246-132437246

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.267C>T; p.I89I; 11:132657220-132657220

skinmalignant_melanomaSubstitution - coding silent

c.314T>C; p.V105A; 11:132657173-132657173

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.259C>A; p.R87S; 11:132657228-132657228

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1019A>C; p.H340P; 11:132420212-132420212

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.762C>T; p.F254F; 11:132436682-132436682

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.287C>A; p.T96N; 11:132657200-132657200

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.921C>T; p.A307A; 11:132436102-132436102

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.921C>T; p.A307A; 11:132436102-132436102

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.652_653insA; p.I218fs*28; 11:132437233-132437234

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.126G>A; p.M42I; 11:132942967-132942967

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664+3G>T; p.?; 11:132437219-132437219

lungcarcinoma; small_cell_carcinomaUnknown

c.667C>T; p.P223S; 11:132436777-132436777

pancreascarcinomaSubstitution - Missense

c.763C>T; p.Q255*; 11:132436681-132436681

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.667C>T; p.P223S; 11:132436777-132436777

urinary_tract; bladdercarcinomaSubstitution - Missense

c.812G>A; p.R271K; 11:132436211-132436211

urinary_tract; bladdercarcinomaSubstitution - Missense

c.763C>T; p.Q255*; 11:132436681-132436681

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.764A>T; p.Q255L; 11:132436680-132436680

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.674A>C; p.Y225S; 11:132436770-132436770

meningesmeningiomaSubstitution - Missense

c.76C>T; p.P26S; 11:132943017-132943017

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1026C>T; p.F342F; 11:132420205-132420205

lungcarcinoma; adenocarcinomaSubstitution - coding silent


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