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

Basic Information

Gene ID

4773

Name

NFATC2

Synonymous

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2;NFATC2;nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2

Definition

NF-ATc2|NFAT pre-existing subunit|NFAT transcription complex, preexisting component|T cell transcription factor NFAT1|T-cell transcription factor NFAT1|nuclear factor of activated T-cells, cytoplasmic 2|nuclear factor of activated T-cells, preexisting com

Position

20q13.2

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 0.06.

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.249_250insC; p.G84fs*8; 20:51523991-51523992

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1199C>T; p.P400L; 20:51516917-51516917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>T; p.P372L; 20:51523126-51523126

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1028G>A; p.R343H; 20:51523213-51523213

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1028G>A; p.R343H; 20:51523213-51523213

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1516A>C; p.K506Q; 20:51475477-51475477

prostatecarcinomaSubstitution - Missense

c.1516A>C; p.K506Q; 20:51475477-51475477

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.887delC; p.P296fs*7; 20:51523354-51523354

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1516A>C; p.K506Q; 20:51475477-51475477

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1494C>T; p.V498V; 20:51475499-51475499

skinmalignant_melanomaSubstitution - coding silent

c.2675T>G; p.V892G; 20:51432114-51432114

breastcarcinomaSubstitution - Missense

c.1880C>T; p.T627M; 20:51435731-51435731

pancreascarcinomaSubstitution - Missense

c.1905C>T; p.P635P; 20:51435706-51435706

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1880C>T; p.T627M; 20:51435731-51435731

pancreascarcinomaSubstitution - Missense

c.1905C>T; p.P635P; 20:51435706-51435706

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1905C>T; p.P635P; 20:51435706-51435706

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2466C>T; p.C822C; 20:51432323-51432323

breastcarcinomaSubstitution - coding silent

c.1000G>A; p.A334T; 20:51523241-51523241

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.346A>T; p.T116S; 20:51523895-51523895

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1075G>A; p.E359K; 20:51523166-51523166

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>A; p.E359K; 20:51523166-51523166

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1994G>A; p.R665K; 20:51435226-51435226

skin; trunkmalignant_melanomaSubstitution - Missense

c.2348C>T; p.S783F; 20:51432441-51432441

pancreascarcinomaSubstitution - Missense

c.2304G>A; p.P768P; 20:51432485-51432485

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.154G>A; p.A52T; 20:51524087-51524087

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.154G>A; p.A52T; 20:51524087-51524087

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.154G>A; p.A52T; 20:51524087-51524087

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1337A>G; p.H446R; 20:51475656-51475656

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2623G>A; p.A875T; 20:51432166-51432166

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1672G>A; p.V558I; 20:51474016-51474016

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.977G>A; p.S326N; 20:51523264-51523264

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1944G>T; p.K648N; 20:51435276-51435276

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1288C>T; p.R430*; 20:51516828-51516828

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2750C>T; p.S917L; 20:51391424-51391424

skinmalignant_melanomaSubstitution - Missense

c.1288C>T; p.R430*; 20:51516828-51516828

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.950G>A; p.G317E; 20:51523291-51523291

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.175G>A; p.A59T; 20:51524066-51524066

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2772G>T; p.Q924H; 20:51391402-51391402

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.99C>A; p.L33L; 20:51542401-51542401

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.175G>A; p.A59T; 20:51524066-51524066

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.950G>A; p.G317E; 20:51523291-51523291

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.366C>G; p.I122M; 20:51523875-51523875

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.711C>A; p.P237P; 20:51523530-51523530

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2391G>T; p.L797L; 20:51432398-51432398

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.182C>T; p.P61L; 20:51524059-51524059

skinmalignant_melanomaSubstitution - Missense

c.1923G>A; p.E641E; 20:51435297-51435297

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.718C>G; p.R240G; 20:51523523-51523523

urinary_tract; bladdercarcinomaSubstitution - Missense

c.701_702insC; p.H235fs*94; 20:51523539-51523540

central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.1433G>A; p.R478Q; 20:51475560-51475560

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1433G>A; p.R478Q; 20:51475560-51475560

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.590G>A; p.G197E; 20:51523651-51523651

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2199G>A; p.T733T; 20:51432590-51432590

skinmalignant_melanomaSubstitution - coding silent

c.1535C>T; p.T512I; 20:51475458-51475458

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2660T>C; p.V887A; 20:51432129-51432129

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2034C>T; p.V678V; 20:51432755-51432755

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1498G>A; p.E500K; 20:51475495-51475495

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.469G>A; p.G157S; 20:51523772-51523772

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.571G>A; p.V191I; 20:51523670-51523670

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.831G>T; p.P277P; 20:51523410-51523410

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.698G>A; p.G233D; 20:51523543-51523543

livercarcinomaSubstitution - Missense

c.963G>T; p.K321N; 20:51523278-51523278

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1505C>A; p.P502H; 20:51475488-51475488

breastcarcinomaSubstitution - Missense

c.2674delG; p.V892fs*1; 20:51432115-51432115

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2070C>G; p.D690E; 20:51432719-51432719

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.21G>A; p.Q7Q; 20:51542479-51542479

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.842C>T; p.S281F; 20:51523399-51523399

skinmalignant_melanomaSubstitution - Missense

c.960_961insC; p.K321fs*8; 20:51523280-51523281

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.366C>T; p.I122I; 20:51523875-51523875

skinmalignant_melanomaSubstitution - coding silent

c.2082C>T; p.I694I; 20:51432707-51432707

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2571G>A; p.P857P; 20:51432218-51432218

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2776T>C; p.*926Q; 20:51391398-51391398

endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.1065C>T; p.C355C; 20:51523176-51523176

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2450A>G; p.N817S; 20:51432339-51432339

skinmalignant_melanomaSubstitution - Missense

c.2344C>T; p.R782C; 20:51432445-51432445

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1921G>A; p.E641K; 20:51435299-51435299

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2511C>T; p.F837F; 20:51432278-51432278

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2511C>T; p.F837F; 20:51432278-51432278

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.989C>T; p.S330L; 20:51523252-51523252

skin; mucosalmalignant_melanomaSubstitution - Missense

c.491C>T; p.P164L; 20:51523750-51523750

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.534C>A; p.F178L; 20:51523707-51523707

urinary_tract; bladdercarcinomaSubstitution - Missense

c.712G>C; p.V238L; 20:51523529-51523529

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.462C>G; p.P154P; 20:51523779-51523779

skinmalignant_melanomaSubstitution - coding silent

c.2672G>T; p.G891V; 20:51432117-51432117

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.941C>T; p.S314L; 20:51523300-51523300

central_nervous_system; braingliomaSubstitution - Missense

c.2334G>A; p.A778A; 20:51432455-51432455

breastcarcinomaSubstitution - coding silent

c.1782G>A; p.Q594Q; 20:51454615-51454615

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2099G>T; p.G700V; 20:51432690-51432690

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1460_1462delCCA; p.T487delT; 20:51475531-51475533

thyroidcarcinoma; anaplastic_carcinomaDeletion - In frame

c.668G>A; p.R223Q; 20:51523573-51523573

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1546G>T; p.A516S; 20:51474142-51474142

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1044C>T; p.A348A; 20:51523197-51523197

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1382G>A; p.G461E; 20:51475611-51475611

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.280C>T; p.P94S; 20:51523961-51523961

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2048C>T; p.T683M; 20:51432741-51432741

pancreascarcinomaSubstitution - Missense

c.2248G>A; p.V750I; 20:51432541-51432541

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1261C>T; p.R421W; 20:51516855-51516855

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1377C>T; p.F459F; 20:51475616-51475616

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.648C>T; p.T216T; 20:51523593-51523593

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1233G>A; p.R411R; 20:51516883-51516883

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.223C>T; p.L75F; 20:51524018-51524018

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1869G>A; p.E623E; 20:51435742-51435742

livercarcinomaSubstitution - coding silent

c.1869G>A; p.E623E; 20:51435742-51435742

livercarcinomaSubstitution - coding silent

c.836C>A; p.P279H; 20:51523405-51523405

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.667C>T; p.R223*; 20:51523574-51523574

skinmalignant_melanomaSubstitution - Nonsense

c.878G>C; p.G293A; 20:51523363-51523363

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1887T>C; p.D629D; 20:51435724-51435724

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1887T>C; p.D629D; 20:51435724-51435724

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1887T>C; p.D629D; 20:51435724-51435724

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2715G>A; p.L905L; 20:51432074-51432074

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.754C>T; p.R252W; 20:51523487-51523487

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.986C>T; p.P329L; 20:51523255-51523255

skinmalignant_melanomaSubstitution - Missense

c.430G>A; p.G144R; 20:51523811-51523811

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2146G>A; p.E716K; 20:51432643-51432643

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2146G>A; p.E716K; 20:51432643-51432643

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1626G>C; p.V542V; 20:51474062-51474062

breastcarcinomaSubstitution - coding silent

c.1287C>T; p.S429S; 20:51516829-51516829

skinmalignant_melanomaSubstitution - coding silent

c.105C>T; p.D35D; 20:51542395-51542395

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2209T>C; p.S737P; 20:51432580-51432580

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1079G>T; p.R360M; 20:51523162-51523162

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1115C>A; p.P372Q; 20:51523126-51523126

skin; trunkmalignant_melanomaSubstitution - Missense

c.978C>T; p.S326S; 20:51523263-51523263

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2221C>T; p.R741C; 20:51432568-51432568

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2758C>T; p.P920S; 20:51391416-51391416

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2536_2537CC>TT; p.P846L; 20:51432252-51432253

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.736T>G; p.S246A; 20:51523505-51523505

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.592_594delCCC; p.P198delP; 20:51523647-51523649

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.299C>T; p.A100V; 20:51523942-51523942

ovaryother; neoplasmSubstitution - Missense

c.299C>T; p.A100V; 20:51523942-51523942

pancreascarcinomaSubstitution - Missense

c.299C>T; p.A100V; 20:51523942-51523942

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1117C>A; p.P373T; 20:51523124-51523124

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1547C>T; p.A516V; 20:51474141-51474141

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.792G>A; p.P264P; 20:51523449-51523449

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.394G>A; p.D132N; 20:51523847-51523847

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2194C>T; p.R732C; 20:51432595-51432595

skinmalignant_melanomaSubstitution - Missense

c.111G>C; p.E37D; 20:51542389-51542389

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1777G>A; p.G593S; 20:51454620-51454620

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1685C>A; p.T562N; 20:51474003-51474003

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.810G>T; p.Q270H; 20:51523431-51523431

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.131-1G>A; p.?; 20:51524111-51524111

urinary_tract; bladdercarcinomaUnknown

c.2260C>T; p.R754W; 20:51432529-51432529

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1987G>T; p.G663W; 20:51435233-51435233

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2260C>T; p.R754W; 20:51432529-51432529

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2260C>T; p.R754W; 20:51432529-51432529

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.893C>G; p.A298G; 20:51523348-51523348

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1992G>C; p.K664N; 20:51435228-51435228

breastcarcinomaSubstitution - Missense

c.2613C>T; p.S871S; 20:51432176-51432176

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2630A>G; p.N877S; 20:51432159-51432159

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.266C>T; p.P89L; 20:51523975-51523975

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.266C>T; p.P89L; 20:51523975-51523975

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.321G>A; p.S107S; 20:51523920-51523920

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2596C>T; p.Q866*; 20:51432193-51432193

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.429C>T; p.A143A; 20:51523812-51523812

breastcarcinomaSubstitution - coding silent

c.1621C>A; p.R541R; 20:51474067-51474067

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1489A>G; p.K497E; 20:51475504-51475504

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.320C>T; p.S107L; 20:51523921-51523921

ovaryother; neoplasmSubstitution - Missense

c.1011C>T; p.S337S; 20:51523230-51523230

skinmalignant_melanomaSubstitution - coding silent

c.2261G>A; p.R754Q; 20:51432528-51432528

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.884C>T; p.P295L; 20:51523357-51523357

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2723-4G>T; p.?; 20:51391455-51391455

livercarcinoma; hepatocellular_carcinomaUnknown

c.222C>T; p.P74P; 20:51524019-51524019

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.865G>A; p.G289S; 20:51523376-51523376

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1509G>T; p.L503F; 20:51475484-51475484

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.865G>A; p.G289S; 20:51523376-51523376

urinary_tract; bladdercarcinomaSubstitution - Missense

c.731G>A; p.R244H; 20:51523510-51523510

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1598C>T; p.T533M; 20:51474090-51474090

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1937G>C; p.R646P; 20:51435283-51435283

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.796G>A; p.G266R; 20:51523445-51523445

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1396C>T; p.R466W; 20:51475597-51475597

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.741G>A; p.S247S; 20:51523500-51523500

thyroidother; neoplasmSubstitution - coding silent

c.741G>A; p.S247S; 20:51523500-51523500

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.893C>T; p.A298V; 20:51523348-51523348

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1715G>A; p.R572Q; 20:51454682-51454682

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.777C>T; p.A259A; 20:51523464-51523464

skinmalignant_melanomaSubstitution - coding silent

c.1503A>C; p.I501I; 20:51475490-51475490

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2046G>A; p.K682K; 20:51432743-51432743

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1118C>A; p.P373H; 20:51523123-51523123

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.349C>G; p.P117A; 20:51523892-51523892

breastcarcinomaSubstitution - Missense

c.1776C>T; p.G592G; 20:51454621-51454621

thyroidcarcinomaSubstitution - coding silent

c.1776C>T; p.G592G; 20:51454621-51454621

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.224T>C; p.L75P; 20:51524017-51524017

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.818G>T; p.R273L; 20:51523423-51523423

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.854C>A; p.P285H; 20:51523387-51523387

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2528G>A; p.R843K; 20:51432261-51432261

livercarcinomaSubstitution - Missense

c.221C>T; p.P74L; 20:51524020-51524020

skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.666T>C; p.P222P; 20:51523575-51523575

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.666T>C; p.P222P; 20:51523575-51523575

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1321C>T; p.P441S; 20:51516795-51516795

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1553T>C; p.I518T; 20:51474135-51474135

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269A>G; p.D90G; 20:51523972-51523972

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1553T>C; p.I518T; 20:51474135-51474135

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.801C>T; p.A267A; 20:51523440-51523440

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1734C>T; p.P578P; 20:51454663-51454663

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.438C>T; p.A146A; 20:51523803-51523803

pancreascarcinomaSubstitution - coding silent

c.1909A>G; p.M637V; 20:51435311-51435311

urinary_tract; bladdercarcinomaSubstitution - Missense

c.701G>A; p.R234H; 20:51523540-51523540

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.D90N; 20:51523973-51523973

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.268G>T; p.D90Y; 20:51523973-51523973

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.977G>T; p.S326I; 20:51523264-51523264

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1175C>T; p.A392V; 20:51516941-51516941

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1602C>T; p.D534D; 20:51474086-51474086

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2000G>A; p.R667Q; 20:51435220-51435220

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811C>A; p.R271S; 20:51523430-51523430

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1573G>A; p.D525N; 20:51474115-51474115

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2079G>T; p.L693L; 20:51432710-51432710

breastcarcinomaSubstitution - coding silent

c.2011C>T; p.Q671*; 20:51435209-51435209

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.421C>T; p.P141S; 20:51523820-51523820

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282G>A; p.P94P; 20:51523959-51523959

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.791C>T; p.P264L; 20:51523450-51523450

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.791C>T; p.P264L; 20:51523450-51523450

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.647C>G; p.T216S; 20:51523594-51523594

skin; legmalignant_melanomaSubstitution - Missense

c.1936C>T; p.R646W; 20:51435284-51435284

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.474C>T; p.F158F; 20:51523767-51523767

skinmalignant_melanomaSubstitution - coding silent

c.474C>T; p.F158F; 20:51523767-51523767

pancreascarcinomaSubstitution - coding silent

c.1977C>T; p.Y659Y; 20:51435243-51435243

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1977C>T; p.Y659Y; 20:51435243-51435243

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.610C>T; p.Q204*; 20:51523631-51523631

skinmalignant_melanomaSubstitution - Nonsense

c.1725C>A; p.H575Q; 20:51454672-51454672

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.12C>T; p.P4P; 20:51542488-51542488

skinmalignant_melanomaSubstitution - coding silent

c.877G>T; p.G293W; 20:51523364-51523364

livercarcinomaSubstitution - Missense

c.1413C>T; p.H471H; 20:51475580-51475580

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1460C>G; p.T487S; 20:51475533-51475533

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2423C>T; p.S808L; 20:51432366-51432366

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1441G>A; p.G481R; 20:51475552-51475552

skinmalignant_melanomaSubstitution - Missense

c.2775G>A; p.T925T; 20:51391399-51391399

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.952A>T; p.I318F; 20:51523289-51523289

livercarcinomaSubstitution - Missense

c.1441G>A; p.G481R; 20:51475552-51475552

skinmalignant_melanomaSubstitution - Missense

c.2423C>T; p.S808L; 20:51432366-51432366

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2775G>A; p.T925T; 20:51391399-51391399

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.952A>T; p.I318F; 20:51523289-51523289

livercarcinomaSubstitution - Missense

c.340G>T; p.E114*; 20:51523901-51523901

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.935C>T; p.T312M; 20:51523306-51523306

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.935C>T; p.T312M; 20:51523306-51523306

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.904G>T; p.V302L; 20:51523337-51523337

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1535+1G>A; p.?; 20:51475457-51475457

central_nervous_system; braingliomaUnknown

c.1527G>T; p.M509I; 20:51475466-51475466

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1134G>A; p.P378P; 20:51523107-51523107

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1677T>C; p.S559S; 20:51474011-51474011

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.955C>T; p.P319S; 20:51523286-51523286

skinmalignant_melanomaSubstitution - Missense

c.2525C>T; p.T842I; 20:51432264-51432264

skinmalignant_melanomaSubstitution - Missense

c.2696A>G; p.N899S; 20:51432093-51432093

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1585C>T; p.R529W; 20:51474103-51474103

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.729C>T; p.S243S; 20:51523512-51523512

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1232G>A; p.R411Q; 20:51516884-51516884

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1014G>A; p.K338K; 20:51523227-51523227

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.420G>A; p.P140P; 20:51523821-51523821

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2563C>T; p.L855L; 20:51432226-51432226

skinmalignant_melanomaSubstitution - coding silent

c.2328_2329CC>TT; p.L777F; 20:51432460-51432461

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2719G>T; p.D907Y; 20:51432070-51432070

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>T; p.R271C; 20:51523430-51523430

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>T; p.R271C; 20:51523430-51523430

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2719G>T; p.D907Y; 20:51432070-51432070

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1073G>A; p.G358D; 20:51523168-51523168

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1053C>T; p.F351F; 20:51523188-51523188

skinmalignant_melanomaSubstitution - coding silent

c.2638C>T; p.P880S; 20:51432151-51432151

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2293T>C; p.Y765H; 20:51432496-51432496

skinmalignant_melanomaSubstitution - Missense


')