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

Basic Information

Gene ID

4897

Name

NRCAM

Synonymous

neuronal cell adhesion molecule;NRCAM;neuronal cell adhesion molecule

Definition

NgCAM-related cell adhesion molecule|neuronal surface protein Bravo

Position

7q31

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 0.13.

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.2376C>A; p.V792V; 7:108182801-108182801

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2448G>T; p.E816D; 7:108182729-108182729

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2252G>A; p.W751*; 7:108184245-108184245

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.226C>T; p.R76C; 7:108232509-108232509

oesophaguscarcinomaSubstitution - Missense

c.47G>C; p.R16T; 7:108240018-108240018

breastcarcinomaSubstitution - Missense

c.3450C>T; p.S1150S; 7:108150012-108150012

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.47G>C; p.R16T; 7:108240018-108240018

breastcarcinomaSubstitution - Missense

c.2902G>A; p.E968K; 7:108178014-108178014

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2390C>T; p.T797I; 7:108182787-108182787

skinmalignant_melanomaSubstitution - Missense

c.2822C>T; p.S941F; 7:108178094-108178094

skinmalignant_melanomaSubstitution - Missense

c.518T>C; p.F173S; 7:108231045-108231045

livercarcinomaSubstitution - Missense

c.953C>G; p.T318S; 7:108209525-108209525

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.518T>C; p.F173S; 7:108231045-108231045

livercarcinomaSubstitution - Missense

c.2702G>T; p.G901V; 7:108180324-108180324

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1017A>G; p.A339A; 7:108209461-108209461

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.521G>A; p.W174*; 7:108231042-108231042

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1904T>C; p.F635S; 7:108189728-108189728

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3060A>C; p.S1020S; 7:108176473-108176473

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1904T>C; p.F635S; 7:108189728-108189728

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2862G>A; p.L954L; 7:108178054-108178054

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.534C>T; p.S178S; 7:108226377-108226377

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1267G>A; p.V423I; 7:108198022-108198022

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>T; p.E500*; 7:108194376-108194376

pancreascarcinomaSubstitution - Nonsense

c.1102C>T; p.P368S; 7:108207615-108207615

skinmalignant_melanomaSubstitution - Missense

c.479C>T; p.P160L; 7:108231084-108231084

skinmalignant_melanomaSubstitution - Missense

c.3497G>A; p.G1166E; 7:108149965-108149965

skinmalignant_melanomaSubstitution - Missense

c.3435C>T; p.F1145F; 7:108150027-108150027

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.995A>T; p.Y332F; 7:108209483-108209483

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.995A>T; p.Y332F; 7:108209483-108209483

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2064G>T; p.Q688H; 7:108184538-108184538

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2064G>T; p.Q688H; 7:108184538-108184538

breastcarcinomaSubstitution - Missense

c.946G>A; p.E316K; 7:108209532-108209532

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718G>T; p.D240Y; 7:108225687-108225687

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1064C>A; p.P355Q; 7:108207653-108207653

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3185T>G; p.I1062S; 7:108160411-108160411

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2873C>T; p.P958L; 7:108178043-108178043

skinmalignant_melanomaSubstitution - Missense

c.312C>T; p.S104S; 7:108232423-108232423

stomachadenocarcinomaSubstitution - coding silent

c.844C>T; p.L282F; 7:108223753-108223753

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2839C>G; p.P947A; 7:108178077-108178077

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2068A>G; p.T690A; 7:108184534-108184534

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2551G>A; p.D851N; 7:108181869-108181869

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1897C>A; p.P633T; 7:108189735-108189735

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1902delC; p.F635fs*3; 7:108189730-108189730

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1034A>G; p.H345R; 7:108209444-108209444

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3278C>A; p.P1093H; 7:108159499-108159499

breastcarcinoma; ductolobular_carcinomaSubstitution - Missense

c.648T>G; p.F216L; 7:108226263-108226263

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1082C>T; p.P361L; 7:108207635-108207635

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1224C>T; p.G408G; 7:108198065-108198065

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.290C>T; p.T97M; 7:108232445-108232445

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.290C>T; p.T97M; 7:108232445-108232445

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1999G>A; p.E667K; 7:108184603-108184603

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1496A>T; p.H499L; 7:108194378-108194378

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1553C>G; p.T518R; 7:108194321-108194321

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1269C>A; p.V423V; 7:108198020-108198020

thyroidother; neoplasmSubstitution - coding silent

c.2750G>T; p.G917V; 7:108180276-108180276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2272G>A; p.E758K; 7:108182905-108182905

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2389A>G; p.T797A; 7:108182788-108182788

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2272G>A; p.E758K; 7:108182905-108182905

skinmalignant_melanomaSubstitution - Missense

c.2380G>A; p.G794S; 7:108182797-108182797

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2272G>A; p.E758K; 7:108182905-108182905

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.52C>G; p.P18A; 7:108240013-108240013

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2553C>T; p.D851D; 7:108181867-108181867

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2257C>A; p.P753T; 7:108182920-108182920

breastcarcinomaSubstitution - Missense

c.203C>T; p.P68L; 7:108234592-108234592

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.363C>T; p.N121N; 7:108232372-108232372

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.363C>T; p.N121N; 7:108232372-108232372

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1314C>T; p.N438N; 7:108197975-108197975

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1391G>T; p.R464M; 7:108195815-108195815

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2118G>T; p.M706I; 7:108184484-108184484

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.952A>G; p.T318A; 7:108209526-108209526

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.163C>T; p.R55W; 7:108234632-108234632

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271A>G; p.M91V; 7:108232464-108232464

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.401G>A; p.R134H; 7:108232334-108232334

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1183_1184insA; p.I395fs*6; 7:108207533-108207534

lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.3401T>C; p.L1134P; 7:108150061-108150061

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.923A>G; p.N308S; 7:108209555-108209555

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2795C>T; p.P932L; 7:108180231-108180231

skinmalignant_melanomaSubstitution - Missense

c.1154G>C; p.R385T; 7:108207563-108207563

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1440C>T; p.I480I; 7:108195766-108195766

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2988G>T; p.R996R; 7:108176545-108176545

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3382G>T; p.E1128*; 7:108150080-108150080

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2150G>T; p.S717I; 7:108184452-108184452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1867G>A; p.A623T; 7:108191747-108191747

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1867G>A; p.A623T; 7:108191747-108191747

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1334-8A>G; p.?; 7:108195880-108195880

livercarcinomaUnknown

c.939G>A; p.K313K; 7:108209539-108209539

breastcarcinomaSubstitution - coding silent

c.3004T>A; p.L1002I; 7:108176529-108176529

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3020G>T; p.R1007L; 7:108176513-108176513

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.75G>C; p.Q25H; 7:108239990-108239990

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2226A>G; p.S742S; 7:108184271-108184271

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2070A>C; p.T690T; 7:108184532-108184532

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2481C>G; p.D827E; 7:108182696-108182696

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3521C>A; p.S1174Y; 7:108149941-108149941

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1006G>T; p.A336S; 7:108209472-108209472

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2072C>A; p.A691D; 7:108184530-108184530

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3419G>T; p.G1140V; 7:108150043-108150043

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1878C>T; p.S626S; 7:108191736-108191736

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.368G>A; p.R123H; 7:108232367-108232367

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3412G>A; p.G1138R; 7:108150050-108150050

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.313G>T; p.E105*; 7:108232422-108232422

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3083C>A; p.A1028E; 7:108176450-108176450

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.705G>T; p.V235V; 7:108225700-108225700

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.262C>T; p.L88L; 7:108232473-108232473

skinmalignant_melanomaSubstitution - coding silent

c.369C>T; p.R123R; 7:108232366-108232366

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.40G>A; p.A14T; 7:108240025-108240025

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2778C>A; p.D926E; 7:108180248-108180248

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1112A>C; p.D371A; 7:108207605-108207605

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1346G>A; p.R449Q; 7:108195860-108195860

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3299C>T; p.T1100I; 7:108159478-108159478

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemiaSubstitution - Missense

c.1807G>A; p.D603N; 7:108191807-108191807

skinmalignant_melanomaSubstitution - Missense

c.1201G>A; p.D401N; 7:108198088-108198088

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3299C>T; p.T1100I; 7:108159478-108159478

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemiaSubstitution - Missense

c.1807G>A; p.D603N; 7:108191807-108191807

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2808C>T; p.P936P; 7:108178108-108178108

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3347G>T; p.G1116V; 7:108150115-108150115

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.47G>A; p.R16K; 7:108240018-108240018

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2425A>G; p.N809D; 7:108182752-108182752

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3036C>A; p.F1012L; 7:108176497-108176497

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2813C>A; p.A938D; 7:108178103-108178103

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3036C>A; p.F1012L; 7:108176497-108176497

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2619G>A; p.Q873Q; 7:108180407-108180407

breastcarcinomaSubstitution - coding silent

c.2824T>A; p.L942M; 7:108178092-108178092

skinmalignant_melanomaSubstitution - Missense

c.1446G>A; p.W482*; 7:108194428-108194428

breastcarcinomaSubstitution - Nonsense

c.1446G>A; p.W482*; 7:108194428-108194428

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.2764C>T; p.P922S; 7:108180262-108180262

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>A; p.K674K; 7:108184580-108184580

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2559A>T; p.V853V; 7:108181861-108181861

livercarcinomaSubstitution - coding silent

c.2867G>T; p.W956L; 7:108178049-108178049

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1014delC; p.N338fs*3; 7:108209464-108209464

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2167T>C; p.Y723H; 7:108184435-108184435

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1632A>G; p.K544K; 7:108194152-108194152

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1615C>G; p.P539A; 7:108194169-108194169

thyroidother; neoplasmSubstitution - Missense

c.1632A>G; p.K544K; 7:108194152-108194152

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2221G>T; p.G741*; 7:108184276-108184276

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1674C>T; p.S558S; 7:108194110-108194110

skinmalignant_melanomaSubstitution - coding silent

c.738G>C; p.L246F; 7:108225667-108225667

breastcarcinomaSubstitution - Missense

c.227G>T; p.R76L; 7:108232508-108232508

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2363C>T; p.S788F; 7:108182814-108182814

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1436C>A; p.T479N; 7:108195770-108195770

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.844C>A; p.L282I; 7:108223753-108223753

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2597G>T; p.R866L; 7:108181823-108181823

thyroidother; neoplasmSubstitution - Missense

c.249C>T; p.I83I; 7:108232486-108232486

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.158A>G; p.D53G; 7:108234637-108234637

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3011T>C; p.F1004S; 7:108176522-108176522

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1783C>A; p.L595I; 7:108191831-108191831

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.330C>T; p.T110T; 7:108232405-108232405

skinmalignant_melanomaSubstitution - coding silent

c.330C>T; p.T110T; 7:108232405-108232405

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2825T>G; p.L942W; 7:108178091-108178091

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1643A>C; p.Y548S; 7:108194141-108194141

skin; trunkmalignant_melanomaSubstitution - Missense

c.1627G>A; p.V543I; 7:108194157-108194157

thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.2482C>T; p.L828F; 7:108182695-108182695

central_nervous_system; braingliomaSubstitution - Missense

c.1709C>A; p.S570Y; 7:108194075-108194075

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2862G>T; p.L954F; 7:108178054-108178054

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1310C>T; p.A437V; 7:108197979-108197979

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2854C>T; p.L952F; 7:108178062-108178062

prostatecarcinomaSubstitution - Missense

c.3024T>G; p.Y1008*; 7:108176509-108176509

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3449C>T; p.S1150F; 7:108150013-108150013

skinmalignant_melanomaSubstitution - Missense

c.3449C>T; p.S1150F; 7:108150013-108150013

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1361C>A; p.A454E; 7:108195845-108195845

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3152G>A; p.G1051D; 7:108160444-108160444

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2250G>A; p.T750T; 7:108184247-108184247

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.648T>A; p.F216L; 7:108226263-108226263

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.648T>A; p.F216L; 7:108226263-108226263

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2461A>G; p.M821V; 7:108182716-108182716

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1860C>G; p.S620S; 7:108191754-108191754

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1777G>C; p.D593H; 7:108191837-108191837

livercarcinomaSubstitution - Missense

c.2253G>T; p.W751C; 7:108184244-108184244

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.682A>G; p.I228V; 7:108226229-108226229

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1330C>A; p.L444M; 7:108197959-108197959

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.857G>C; p.C286S; 7:108223740-108223740

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1128C>A; p.C376*; 7:108207589-108207589

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1045G>C; p.V349L; 7:108209433-108209433

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2972C>A; p.P991H; 7:108176561-108176561

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1591G>T; p.E531*; 7:108194283-108194283

thyroidother; neoplasmSubstitution - Nonsense

c.2479G>T; p.D827Y; 7:108182698-108182698

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.549A>T; p.P183P; 7:108226362-108226362

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.41C>T; p.A14V; 7:108240024-108240024

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.20C>T; p.P7L; 7:108240045-108240045

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2650G>A; p.E884K; 7:108180376-108180376

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1108G>A; p.E370K; 7:108207609-108207609

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.533_534CC>TT; p.S178F; 7:108226377-108226378

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96A>G; p.V32V; 7:108239969-108239969

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.814A>G; p.S272G; 7:108223783-108223783

salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1815C>T; p.S605S; 7:108191799-108191799

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1543G>T; p.G515*; 7:108194331-108194331

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2823T>A; p.S941S; 7:108178093-108178093

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2704C>T; p.L902L; 7:108180322-108180322

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2641C>T; p.R881C; 7:108180385-108180385

pancreascarcinomaSubstitution - Missense

c.398T>C; p.V133A; 7:108232337-108232337

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3316G>A; p.D1106N; 7:108150146-108150146

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2539G>A; p.E847K; 7:108181881-108181881

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1519C>T; p.P507S; 7:108194355-108194355

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.622G>A; p.E208K; 7:108226289-108226289

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622G>A; p.E208K; 7:108226289-108226289

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3116G>T; p.R1039L; 7:108160480-108160480

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3399C>T; p.S1133S; 7:108150063-108150063

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1988-11_1988-10delGT; p.?; 7:108184624-108184625

skinmalignant_melanomaUnknown

c.3509C>A; p.S1170*; 7:108149953-108149953

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3279T>A; p.P1093P; 7:108159498-108159498

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3279T>A; p.P1093P; 7:108159498-108159498

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2642G>A; p.R881H; 7:108180384-108180384

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2642G>A; p.R881H; 7:108180384-108180384

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1879G>A; p.V627I; 7:108191735-108191735

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1879G>A; p.V627I; 7:108191735-108191735

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1518T>A; p.I506I; 7:108194356-108194356

skinmalignant_melanomaSubstitution - coding silent

c.1879G>A; p.V627I; 7:108191735-108191735

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3122T>G; p.V1041G; 7:108160474-108160474

breastcarcinomaSubstitution - Missense

c.2463G>A; p.M821I; 7:108182714-108182714

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2336G>A; p.W779*; 7:108182841-108182841

breastcarcinomaSubstitution - Nonsense

c.3488C>T; p.P1163L; 7:108149974-108149974

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2454T>A; p.A818A; 7:108182723-108182723

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2504A>G; p.N835S; 7:108181916-108181916

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3393C>T; p.D1131D; 7:108150069-108150069

breastcarcinomaSubstitution - coding silent

c.287G>A; p.G96E; 7:108232448-108232448

skinmalignant_melanomaSubstitution - Missense

c.2316G>C; p.Q772H; 7:108182861-108182861

breastcarcinomaSubstitution - Missense

c.3535A>C; p.M1179L; 7:108149927-108149927

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3030T>A; p.F1010L; 7:108176503-108176503

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1529A>T; p.Q510L; 7:108194345-108194345

livercarcinomaSubstitution - Missense

c.407C>A; p.S136Y; 7:108232328-108232328

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2812G>A; p.A938T; 7:108178104-108178104

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2311C>T; p.R771C; 7:108182866-108182866

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.619C>T; p.R207C; 7:108226292-108226292

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.2532C>A; p.T844T; 7:108181888-108181888

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.209C>T; p.P70L; 7:108234586-108234586

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2117T>C; p.M706T; 7:108184485-108184485

kidneyother; neoplasmSubstitution - Missense

c.1968C>T; p.D656D; 7:108189664-108189664

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.918C>T; p.P306P; 7:108209560-108209560

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2003A>G; p.Y668C; 7:108184599-108184599

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2115G>A; p.V705V; 7:108184487-108184487

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2281_2282GG>AA; p.G761K; 7:108182895-108182896

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3346G>T; p.G1116*; 7:108150116-108150116

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2700G>A; p.P900P; 7:108180326-108180326

breastcarcinomaSubstitution - coding silent

c.888T>G; p.I296M; 7:108209590-108209590

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31C>T; p.R11C; 7:108240034-108240034

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.31C>T; p.R11C; 7:108240034-108240034

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1057+1G>A; p.?; 7:108209420-108209420

skinmalignant_melanomaUnknown

c.1740G>T; p.R580S; 7:108194044-108194044

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3097G>T; p.D1033Y; 7:108176436-108176436

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1597C>A; p.H533N; 7:108194277-108194277

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2886G>A; p.P962P; 7:108178030-108178030

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.658C>G; p.Q220E; 7:108226253-108226253

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3348A>G; p.G1116G; 7:108150114-108150114

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3348A>G; p.G1116G; 7:108150114-108150114

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1441G>C; p.E481Q; 7:108195765-108195765

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1353C>T; p.L451L; 7:108195853-108195853

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1642T>A; p.Y548N; 7:108194142-108194142

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1860C>T; p.S620S; 7:108191754-108191754

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2169T>C; p.Y723Y; 7:108184433-108184433

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent


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