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

Basic Information

Gene ID

5579

Name

PRKCB

Synonymous

protein kinase C, beta;PRKCB;protein kinase C, beta

Definition

PKC-B|protein kinase C beta type|protein kinase C, beta 1 polypeptide

Position

16p11.2

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 0.05.

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.1805A>T; p.Y602F; 16:24191172-24191172

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1536A>G; p.I512M; 16:24185113-24185113

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1149C>T; p.D383D; 16:24154767-24154767

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1149C>T; p.D383D; 16:24154767-24154767

lungcarcinoid-endocrine_tumour; typicalSubstitution - coding silent

c.1116C>T; p.I372I; 16:24154734-24154734

skinmalignant_melanomaSubstitution - coding silent

c.1708G>A; p.A570T; 16:24185553-24185553

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1455T>C; p.F485F; 16:24180850-24180850

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.149G>C; p.C50S; 16:23836324-23836324

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.199T>A; p.C67S; 16:23837400-23837400

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.785G>T; p.G262V; 16:24094261-24094261

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1724T>C; p.L575P; 16:24191091-24191091

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1417_1418AT>TA; p.M473*; 16:24180812-24180813

skinmalignant_melanomaSubstitution - Nonsense

c.1682C>A; p.P561H; 16:24185527-24185527

skinmalignant_melanomaSubstitution - Missense

c.1803G>T; p.R601R; 16:24191170-24191170

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1448C>T; p.A483V; 16:24180843-24180843

skinmalignant_melanomaSubstitution - Missense

c.450G>T; p.L150L; 16:24035468-24035468

livercarcinomaSubstitution - coding silent

c.1947G>A; p.R649R; 16:24214741-24214741

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1314C>T; p.F438F; 16:24172344-24172344

skinmalignant_melanomaSubstitution - coding silent

c.970A>G; p.T324A; 16:24123886-24123886

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.D376N; 16:24154744-24154744

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1082G>A; p.R361Q; 16:24154700-24154700

skinmalignant_melanomaSubstitution - Missense

c.1082G>A; p.R361Q; 16:24154700-24154700

skinmalignant_melanomaSubstitution - Missense

c.1332A>T; p.V444V; 16:24174518-24174518

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1082G>A; p.R361Q; 16:24154700-24154700

skinmalignant_melanomaSubstitution - Missense

c.1191T>C; p.P397P; 16:24154809-24154809

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.260C>A; p.P87H; 16:23988562-23988562

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1043T>A; p.L348Q; 16:24123959-24123959

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1144G>A; p.D382N; 16:24154762-24154762

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1356C>G; p.I452M; 16:24174542-24174542

lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.265G>T; p.A89S; 16:23988567-23988567

oesophaguscarcinomaSubstitution - Missense

c.1065G>T; p.K355N; 16:24123981-24123981

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1771G>A; p.E591K; 16:24191138-24191138

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1771G>A; p.E591K; 16:24191138-24191138

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1582G>C; p.G528R; 16:24185159-24185159

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.431T>C; p.V144A; 16:24035449-24035449

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.469G>A; p.E157K; 16:24035487-24035487

skinmalignant_melanomaSubstitution - Missense

c.1818G>A; p.E606E; 16:24191185-24191185

skinmalignant_melanomaSubstitution - coding silent

c.585C>T; p.Y195Y; 16:24092846-24092846

pancreascarcinomaSubstitution - coding silent

c.603T>C; p.I201I; 16:24092864-24092864

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1443G>A; p.K481K; 16:24180838-24180838

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1218C>A; p.L406L; 16:24154836-24154836

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - coding silent

c.60C>T; p.F20F; 16:23836235-23836235

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1218C>A; p.L406L; 16:24154836-24154836

soft_tissue; striated_musclerhabdomyosarcomaSubstitution - coding silent

c.1218C>A; p.L406L; 16:24154836-24154836

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - coding silent

c.1987A>C; p.N663H; 16:24214781-24214781

livercarcinomaSubstitution - Missense

c.1987A>C; p.N663H; 16:24214781-24214781

livercarcinomaSubstitution - Missense

c.786G>T; p.G262G; 16:24094262-24094262

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.18G>T; p.A6A; 16:23836193-23836193

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1211C>T; p.T404I; 16:24154829-24154829

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.450G>A; p.L150L; 16:24035468-24035468

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1860A>G; p.K620K; 16:24191227-24191227

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.962C>T; p.T321M; 16:24123878-24123878

skinmalignant_melanomaSubstitution - Missense

c.756G>A; p.R252R; 16:24094232-24094232

skinmalignant_melanomaSubstitution - coding silent

c.1856C>A; p.P619Q; 16:24191223-24191223

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.530T>C; p.V177A; 16:24092791-24092791

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.965C>T; p.T322I; 16:24123881-24123881

skinmalignant_melanomaSubstitution - Missense

c.1752G>T; p.L584L; 16:24191119-24191119

oesophaguscarcinomaSubstitution - coding silent

c.541delA; p.N182fs*15; 16:24092802-24092802

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1032C>T; p.F344F; 16:24123948-24123948

skinmalignant_melanomaSubstitution - coding silent

c.1382G>C; p.G461A; 16:24174568-24174568

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1422C>T; p.L474L; 16:24180817-24180817

skinmalignant_melanomaSubstitution - coding silent

c.1055G>A; p.S352N; 16:24123971-24123971

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1143T>C; p.D381D; 16:24154761-24154761

livercarcinomaSubstitution - coding silent

c.1802G>A; p.R601Q; 16:24191169-24191169

skinmalignant_melanomaSubstitution - Missense

c.959A>G; p.K320R; 16:24123875-24123875

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1544A>T; p.Y515F; 16:24185121-24185121

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.545A>T; p.N182I; 16:24092806-24092806

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.765C>T; p.F255F; 16:24094241-24094241

skinmalignant_melanomaSubstitution - coding silent

c.1186C>T; p.L396L; 16:24154804-24154804

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1255G>T; p.V419L; 16:24172285-24172285

livercarcinomaSubstitution - Missense

c.1255G>T; p.V419L; 16:24172285-24172285

breastcarcinomaSubstitution - Missense

c.1255G>T; p.V419L; 16:24172285-24172285

livercarcinomaSubstitution - Missense

c.1904G>T; p.R635L; 16:24214698-24214698

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1892G>A; p.R631Q; 16:24214686-24214686

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1892G>A; p.R631Q; 16:24214686-24214686

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1892G>A; p.R631Q; 16:24214686-24214686

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.430G>A; p.V144M; 16:24035448-24035448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.430G>A; p.V144M; 16:24035448-24035448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.107A>C; p.N36T; 16:23836282-23836282

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.264C>T; p.G88G; 16:23988566-23988566

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1834G>C; p.E612Q; 16:24191201-24191201

breastcarcinomaSubstitution - Missense

c.79C>A; p.R27R; 16:23836254-23836254

thyroidother; neoplasmSubstitution - coding silent

c.18G>A; p.A6A; 16:23836193-23836193

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1199C>T; p.P400L; 16:24154817-24154817

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1238_1239TG>AT; p.M413N; 16:24154856-24154857

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.G262E; 16:24094261-24094261

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1554T>C; p.Y518Y; 16:24185131-24185131

breastcarcinomaSubstitution - coding silent

c.79C>A; p.R27R; 16:23836254-23836254

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.79C>A; p.R27R; 16:23836254-23836254

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.79C>A; p.R27R; 16:23836254-23836254

breastcarcinomaSubstitution - coding silent

c.649T>C; p.C217R; 16:24092910-24092910

skinmalignant_melanomaSubstitution - Missense

c.580C>T; p.P194S; 16:24092841-24092841

skinmalignant_melanomaSubstitution - Missense

c.1394G>A; p.R465H; 16:24174580-24174580

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.78C>T; p.L26L; 16:23836253-23836253

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.78C>T; p.L26L; 16:23836253-23836253

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.586G>A; p.V196I; 16:24092847-24092847

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1741G>T; p.G581C; 16:24191108-24191108

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1671C>T; p.N557N; 16:24185516-24185516

livercarcinomaSubstitution - coding silent

c.1671C>T; p.N557N; 16:24185516-24185516

livercarcinomaSubstitution - coding silent

c.1119G>A; p.L373L; 16:24154737-24154737

skinmalignant_melanomaSubstitution - coding silent

c.290_291insC; p.R99fs*7; 16:24032137-24032138

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.606C>T; p.P202P; 16:24092867-24092867

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.528C>A; p.L176L; 16:24035546-24035546

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1690A>G; p.M564V; 16:24185535-24185535

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1295T>C; p.I432T; 16:24172325-24172325

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.408G>A; p.M136I; 16:24035426-24035426

skinmalignant_melanomaSubstitution - Missense

c.296G>A; p.R99H; 16:24032143-24032143

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.61G>A; p.A21T; 16:23836236-23836236

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1871G>A; p.R624Q; 16:24214665-24214665

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1021G>A; p.D341N; 16:24123937-24123937

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.189G>T; p.Q63H; 16:23837390-23837390

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1913C>T; p.P638L; 16:24214707-24214707

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.532A>C; p.R178R; 16:24092793-24092793

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1450G>A; p.D484N; 16:24180845-24180845

skinmalignant_melanomaSubstitution - Missense

c.163G>A; p.D55N; 16:23836338-23836338

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.336C>T; p.P112P; 16:24032183-24032183

skinmalignant_melanomaSubstitution - coding silent

c.1339G>A; p.A447T; 16:24174525-24174525

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1846C>A; p.P616T; 16:24191213-24191213

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1885T>A; p.F629I; 16:24214679-24214679

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1395-4A>T; p.?; 16:24180786-24180786

kidneyother; neoplasmUnknown

c.544A>T; p.N182Y; 16:24092805-24092805

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.544A>T; p.N182Y; 16:24092805-24092805

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.623G>A; p.S208N; 16:24092884-24092884

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1200G>A; p.P400P; 16:24154818-24154818

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1200G>A; p.P400P; 16:24154818-24154818

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1789C>G; p.H597D; 16:24191156-24191156

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1200G>A; p.P400P; 16:24154818-24154818

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1200G>A; p.P400P; 16:24154818-24154818

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.725T>C; p.V242A; 16:24094201-24094201

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1200G>A; p.P400P; 16:24154818-24154818

central_nervous_system; braingliomaSubstitution - coding silent

c.1200G>A; p.P400P; 16:24154818-24154818

central_nervous_system; braingliomaSubstitution - coding silent

c.1485G>A; p.G495G; 16:24180880-24180880

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1188G>T; p.L396L; 16:24154806-24154806

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1188G>T; p.L396L; 16:24154806-24154806

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1480G>A; p.D494N; 16:24180875-24180875

skinmalignant_melanomaSubstitution - Missense

c.1480G>A; p.D494N; 16:24180875-24180875

skinmalignant_melanomaSubstitution - Missense

c.1362G>C; p.L454L; 16:24174548-24174548

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1406T>C; p.L469P; 16:24180801-24180801

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1406T>C; p.L469P; 16:24180801-24180801

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1279G>A; p.D427N; 16:24172309-24172309

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.938G>T; p.G313V; 16:24123854-24123854

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1870C>T; p.R624*; 16:24214664-24214664

pancreascarcinomaSubstitution - Nonsense

c.653C>T; p.S218F; 16:24092914-24092914

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1493C>T; p.T498I; 16:24180888-24180888

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.920G>T; p.R307M; 16:24123836-24123836

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.232T>C; p.C78R; 16:23988534-23988534

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1557G>A; p.G519G; 16:24185134-24185134

skinmalignant_melanomaSubstitution - coding silent

c.1486G>A; p.V496M; 16:24180881-24180881

central_nervous_system; braingliomaSubstitution - Missense

c.1486G>A; p.V496M; 16:24180881-24180881

central_nervous_system; braingliomaSubstitution - Missense

c.745T>A; p.L249M; 16:24094221-24094221

kidneyother; neoplasmSubstitution - Missense

c.1428T>C; p.S476S; 16:24180823-24180823

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.922G>A; p.A308T; 16:24123838-24123838

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1636G>T; p.E546*; 16:24185481-24185481

livercarcinomaSubstitution - Nonsense

c.834G>A; p.L278L; 16:24112985-24112985

skinmalignant_melanomaSubstitution - coding silent

c.1093G>A; p.D365N; 16:24154711-24154711

breastcarcinomaSubstitution - Missense

c.177C>T; p.G59G; 16:23837378-23837378

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1698G>A; p.K566K; 16:24185543-24185543

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1904G>A; p.R635H; 16:24214698-24214698

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.S95S; 16:23988587-23988587

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.285C>T; p.S95S; 16:23988587-23988587

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.309G>T; p.K103N; 16:24032156-24032156

thyroidother; neoplasmSubstitution - Missense

c.607G>A; p.D203N; 16:24092868-24092868

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1068C>T; p.V356V; 16:24154686-24154686

skinmalignant_melanomaSubstitution - coding silent

c.607G>A; p.D203N; 16:24092868-24092868

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.668G>A; p.W223*; 16:24092929-24092929

skinmalignant_melanomaSubstitution - Nonsense

c.1768G>T; p.G590C; 16:24191135-24191135

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.731T>C; p.I244T; 16:24094207-24094207

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1567G>A; p.D523N; 16:24185144-24185144

skinmalignant_melanomaSubstitution - Missense

c.545delA; p.N182fs*15; 16:24092806-24092806

large_intestine; coloncarcinomaDeletion - Frameshift

c.960G>A; p.K320K; 16:24123876-24123876

skinmalignant_melanomaSubstitution - coding silent

c.1357G>A; p.G453S; 16:24174543-24174543

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.533G>A; p.R178K; 16:24092794-24092794

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1206C>T; p.F402F; 16:24154824-24154824

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.157T>G; p.C53G; 16:23836332-23836332

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.475C>T; p.R159C; 16:24035493-24035493

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.657C>G; p.L219L; 16:24092918-24092918

breastcarcinomaSubstitution - coding silent

c.1525G>A; p.A509T; 16:24180920-24180920

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1525G>A; p.A509T; 16:24180920-24180920

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1525G>A; p.A509T; 16:24180920-24180920

large_intestine; coloncarcinomaSubstitution - Missense

c.56G>T; p.R19L; 16:23836231-23836231

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1525G>A; p.A509T; 16:24180920-24180920

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1525G>A; p.A509T; 16:24180920-24180920

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.R19C; 16:23836230-23836230

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.V18M; 16:23836227-23836227

skinmalignant_melanomaSubstitution - Missense

c.1968C>T; p.F656F; 16:24214762-24214762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.756G>T; p.R252S; 16:24094232-24094232

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.477C>T; p.R159R; 16:24035495-24035495

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.263G>A; p.G88D; 16:23988565-23988565

pancreascarcinomaSubstitution - Missense

c.1224C>G; p.S408S; 16:24154842-24154842

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1304T>C; p.V435A; 16:24172334-24172334

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1753G>A; p.G585S; 16:24191120-24191120

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1224C>G; p.S408S; 16:24154842-24154842

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1618C>T; p.P540S; 16:24185463-24185463

skinmalignant_melanomaSubstitution - Missense

c.1615G>A; p.A539T; 16:24185460-24185460

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1156T>C; p.C386R; 16:24154774-24154774

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1156T>A; p.C386S; 16:24154774-24154774

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1526C>T; p.A509V; 16:24180921-24180921

breastcarcinomaSubstitution - Missense

c.403T>G; p.C135G; 16:24035421-24035421

livercarcinomaSubstitution - Missense

c.173+8C>T; p.?; 16:23836356-23836356

pancreascarcinomaUnknown

c.318C>T; p.I106I; 16:24032165-24032165

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.403T>G; p.C135G; 16:24035421-24035421

livercarcinomaSubstitution - Missense

c.403T>G; p.C135G; 16:24035421-24035421

livercarcinomaSubstitution - Missense

c.533G>T; p.R178I; 16:24092794-24092794

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.895G>A; p.E299K; 16:24113046-24113046

skinmalignant_melanomaSubstitution - Missense

c.1433G>A; p.G478E; 16:24180828-24180828

skinmalignant_melanomaSubstitution - Missense

c.2018G>A; p.S673N; 16:24214812-24214812

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1663G>A; p.E555K; 16:24185508-24185508

skinmalignant_melanomaSubstitution - Missense

c.560A>G; p.D187G; 16:24092821-24092821

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1550C>A; p.P517H; 16:24185127-24185127

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.716G>T; p.R239I; 16:24094192-24094192

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1893_1894insT; p.T634fs*19; 16:24214687-24214688

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1774C>T; p.R592C; 16:24191141-24191141

breastcarcinomaSubstitution - Missense

c.1656C>T; p.S552S; 16:24185501-24185501

skinmalignant_melanomaSubstitution - coding silent

c.1636G>A; p.E546K; 16:24185481-24185481

skinmalignant_melanomaSubstitution - Missense

c.610C>T; p.P204S; 16:24092871-24092871

skinmalignant_melanomaSubstitution - Missense

c.1318G>A; p.E440K; 16:24172348-24172348

skinmalignant_melanomaSubstitution - Missense

c.1723C>T; p.L575L; 16:24191090-24191090

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1155G>T; p.E385D; 16:24154773-24154773

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1168G>A; p.E390K; 16:24154786-24154786

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827A>T; p.K276M; 16:24112978-24112978

breastcarcinomaSubstitution - Missense

c.238G>A; p.E80K; 16:23988540-23988540

skinmalignant_melanomaSubstitution - Missense

c.1503C>A; p.F501L; 16:24180898-24180898

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1202C>A; p.P401H; 16:24154820-24154820

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1887C>T; p.F629F; 16:24214681-24214681

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1336T>C; p.Y446H; 16:24174522-24174522

skinmalignant_melanomaSubstitution - Missense

c.423G>A; p.K141K; 16:24035441-24035441

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.482G>A; p.R161H; 16:24035500-24035500

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.884G>T; p.S295I; 16:24113035-24113035

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1334T>C; p.F445S; 16:24174520-24174520

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1563C>T; p.S521S; 16:24185140-24185140

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1039G>A; p.V347M; 16:24123955-24123955

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.286G>A; p.D96N; 16:23988588-23988588

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1044G>A; p.L348L; 16:24123960-24123960

breastcarcinomaSubstitution - coding silent

c.1854G>T; p.K618N; 16:24191221-24191221

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1332-9T>A; p.?; 16:24174509-24174509

livercarcinomaUnknown

c.229C>T; p.R77W; 16:23988531-23988531

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1546C>T; p.Q516*; 16:24185123-24185123

skinmalignant_melanomaSubstitution - Nonsense

c.1007G>A; p.R336Q; 16:24123923-24123923

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1007G>A; p.R336Q; 16:24123923-24123923

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1132G>A; p.V378M; 16:24154750-24154750

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.784G>T; p.G262W; 16:24094260-24094260

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1829G>A; p.R610H; 16:24191196-24191196

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense


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