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

Basic Information

Gene ID

144165

Name

PRICKLE1

Synonymous

prickle homolog 1 (Drosophila);PRICKLE1;prickle homolog 1 (Drosophila)

Definition

REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein|REST/NRSF-interacting LIM domain protein 1|prickle-like 1|prickle-like protein 1

Position

12q12

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.5C>T; p.P2L; 12:42472512-42472512

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1267G>C; p.G423R; 12:42464767-42464767

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5C>T; p.P2L; 12:42472512-42472512

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2116C>A; p.P706T; 12:42460189-42460189

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2473G>A; p.G825S; 12:42459832-42459832

 skinmalignant_melanomaSubstitution - Missense

c.1184G>C; p.G395A; 12:42464850-42464850

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2431G>T; p.G811C; 12:42459874-42459874

 haematopoietic_and_lymphoid_tissue; skinlymphoid_neoplasm; mycosis_fungoides-Sezary_syndromeSubstitution - Missense

c.266T>C; p.L89S; 12:42469568-42469568

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.188C>A; p.P63H; 12:42470304-42470304

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2078G>T; p.R693I; 12:42460227-42460227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707G>A; p.R236H; 12:42466262-42466262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707G>A; p.R236H; 12:42466262-42466262

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.805G>A; p.G269R; 12:42465229-42465229

 breastcarcinomaSubstitution - Missense

c.430C>T; p.R144C; 12:42468784-42468784

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.R144C; 12:42468784-42468784

 pancreascarcinomaSubstitution - Missense

c.1574C>T; p.S525L; 12:42464460-42464460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1443C>T; p.G481G; 12:42464591-42464591

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1451C>T; p.A484V; 12:42464583-42464583

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2193C>A; p.Y731*; 12:42460112-42460112

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1765C>T; p.H589Y; 12:42460540-42460540

 pancreascarcinomaSubstitution - Missense

c.4C>T; p.P2S; 12:42472513-42472513

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.1978G>A; p.V660I; 12:42460327-42460327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1978G>A; p.V660I; 12:42460327-42460327

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2360G>A; p.R787Q; 12:42459945-42459945

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2369G>T; p.R790I; 12:42459936-42459936

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1280T>C; p.L427P; 12:42464754-42464754

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1280T>C; p.L427P; 12:42464754-42464754

 large_intestine; rectumNSSubstitution - Missense

c.739T>C; p.Y247H; 12:42466230-42466230

 skinmalignant_melanomaSubstitution - Missense

c.1039A>G; p.R347G; 12:42464995-42464995

 NSmalignant_melanomaSubstitution - Missense

c.189C>T; p.P63P; 12:42470303-42470303

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.406G>A; p.G136S; 12:42468808-42468808

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1977C>T; p.R659R; 12:42460328-42460328

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1745C>A; p.T582N; 12:42460560-42460560

 livercarcinomaSubstitution - Missense

c.438C>A; p.G146G; 12:42468776-42468776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.499G>A; p.D167N; 12:42468715-42468715

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2409T>A; p.S803S; 12:42459896-42459896

 breastcarcinomaSubstitution - coding silent

c.374T>G; p.V125G; 12:42469460-42469460

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2118C>A; p.P706P; 12:42460187-42460187

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1832A>G; p.E611G; 12:42460473-42460473

 livercarcinomaSubstitution - Missense

c.1832A>G; p.E611G; 12:42460473-42460473

 livercarcinomaSubstitution - Missense

c.448T>A; p.C150S; 12:42468766-42468766

 livercarcinomaSubstitution - Missense

c.448T>A; p.C150S; 12:42468766-42468766

 livercarcinomaSubstitution - Missense

c.2021G>A; p.R674H; 12:42460284-42460284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1118G>T; p.R373L; 12:42464916-42464916

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.253T>C; p.Y85H; 12:42469581-42469581

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.976C>T; p.R326*; 12:42465058-42465058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2480A>G; p.N827S; 12:42459825-42459825

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2397T>C; p.S799S; 12:42459908-42459908

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.706C>T; p.R236C; 12:42466263-42466263

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.706C>T; p.R236C; 12:42466263-42466263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2044C>T; p.R682C; 12:42460261-42460261

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.740A>G; p.Y247C; 12:42466229-42466229

 thyroidcarcinomaSubstitution - Missense

c.2183C>A; p.A728D; 12:42460122-42460122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2304_2306delCTC; p.S770delS; 12:42459999-42460001

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1770G>T; p.R590S; 12:42460535-42460535

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.825G>A; p.T275T; 12:42465209-42465209

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1398delA; p.K466fs*62; 12:42464636-42464636

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.2375C>G; p.A792G; 12:42459930-42459930

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1123T>C; p.L375L; 12:42464911-42464911

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1105G>A; p.D369N; 12:42464929-42464929

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1672C>T; p.P558S; 12:42460633-42460633

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2462A>G; p.K821R; 12:42459843-42459843

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.941C>T; p.A314V; 12:42465093-42465093

 skinmalignant_melanomaSubstitution - Missense

c.668C>T; p.T223M; 12:42466301-42466301

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.553G>C; p.E185Q; 12:42468661-42468661

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231A>C; p.P77P; 12:42470261-42470261

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2135T>G; p.F712C; 12:42460170-42460170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.686G>T; p.R229M; 12:42466283-42466283

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1828G>T; p.E610*; 12:42460477-42460477

 breastcarcinomaSubstitution - Nonsense

c.804C>T; p.D268D; 12:42465230-42465230

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1940T>G; p.I647S; 12:42460365-42460365

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.804C>T; p.D268D; 12:42465230-42465230

 livercarcinomaSubstitution - coding silent

c.804C>T; p.D268D; 12:42465230-42465230

 livercarcinomaSubstitution - coding silent

c.2130G>T; p.E710D; 12:42460175-42460175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1947G>T; p.Q649H; 12:42460358-42460358

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.P153S; 12:42468757-42468757

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2354A>G; p.Q785R; 12:42459951-42459951

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2065C>A; p.L689I; 12:42460240-42460240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1769G>T; p.R590M; 12:42460536-42460536

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.370G>A; p.A124T; 12:42469464-42469464

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2193C>T; p.Y731Y; 12:42460112-42460112

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.2026C>T; p.R676W; 12:42460279-42460279

 pancreascarcinomaSubstitution - Missense

c.1149A>G; p.Q383Q; 12:42464885-42464885

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1028C>T; p.A343V; 12:42465006-42465006

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1030G>C; p.D344H; 12:42465004-42465004

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955G>A; p.D319N; 12:42465079-42465079

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.178G>A; p.V60I; 12:42470314-42470314

 pancreascarcinomaSubstitution - Missense

c.178G>A; p.V60I; 12:42470314-42470314

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.178G>A; p.V60I; 12:42470314-42470314

 pancreascarcinomaSubstitution - Missense

c.1121A>G; p.K374R; 12:42464913-42464913

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1247C>T; p.T416M; 12:42464787-42464787

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2102T>G; p.L701R; 12:42460203-42460203

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1559C>T; p.S520F; 12:42464475-42464475

 skinmalignant_melanomaSubstitution - Missense

c.2326G>T; p.G776*; 12:42459979-42459979

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1702G>A; p.E568K; 12:42460603-42460603

 skinmalignant_melanomaSubstitution - Missense

c.2435A>G; p.Q812R; 12:42459870-42459870

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2268C>T; p.G756G; 12:42460037-42460037

 stomachadenocarcinomaSubstitution - coding silent

c.2268C>T; p.G756G; 12:42460037-42460037

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.849G>A; p.Q283Q; 12:42465185-42465185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1059G>A; p.S353S; 12:42464975-42464975

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.678A>T; p.G226G; 12:42466291-42466291

 central_nervous_system; braingliomaSubstitution - coding silent

c.12G>A; p.E4E; 12:42472505-42472505

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.626G>A; p.R209H; 12:42466343-42466343

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1902T>C; p.S634S; 12:42460403-42460403

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1969C>T; p.R657W; 12:42460336-42460336

 ovaryother; neoplasmSubstitution - Missense

c.2024G>A; p.R675H; 12:42460281-42460281

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2024G>A; p.R675H; 12:42460281-42460281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2024G>A; p.R675H; 12:42460281-42460281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1820T>C; p.I607T; 12:42460485-42460485

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1143C>T; p.S381S; 12:42464891-42464891

 ovaryother; neoplasmSubstitution - coding silent

c.1504C>G; p.L502V; 12:42464530-42464530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.R657Q; 12:42460335-42460335

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.R657Q; 12:42460335-42460335

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.R657Q; 12:42460335-42460335

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1997G>A; p.R666K; 12:42460308-42460308

 livercarcinomaSubstitution - Missense

c.275A>T; p.E92V; 12:42469559-42469559

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1997G>A; p.R666K; 12:42460308-42460308

 livercarcinomaSubstitution - Missense

c.2137A>G; p.I713V; 12:42460168-42460168

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.276G>T; p.E92D; 12:42469558-42469558

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.202C>T; p.R68W; 12:42470290-42470290

 pancreascarcinomaSubstitution - Missense

c.1313G>A; p.R438Q; 12:42464721-42464721

 skinmalignant_melanomaSubstitution - Missense

c.1993G>T; p.E665*; 12:42460312-42460312

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1959T>G; p.S653R; 12:42460346-42460346

 stomachadenocarcinomaSubstitution - Missense

c.1543C>T; p.Q515*; 12:42464491-42464491

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.873T>C; p.C291C; 12:42465161-42465161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1484G>C; p.R495T; 12:42464550-42464550

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.873T>C; p.C291C; 12:42465161-42465161

 central_nervous_system; braingliomaSubstitution - coding silent

c.977G>A; p.R326Q; 12:42465057-42465057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2306C>T; p.S769F; 12:42459999-42459999

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1510C>A; p.H504N; 12:42464524-42464524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2460A>C; p.K820N; 12:42459845-42459845

 breastcarcinomaSubstitution - Missense

c.2236C>A; p.P746T; 12:42460069-42460069

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1600C>T; p.R534W; 12:42464434-42464434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.385-10T>C; p.?; 12:42468839-42468839

 livercarcinomaUnknown

c.1254C>T; p.L418L; 12:42464780-42464780

 skinmalignant_melanomaSubstitution - coding silent

c.508T>C; p.Y170H; 12:42468706-42468706

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1460G>C; p.S487T; 12:42464574-42464574

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.245A>G; p.E82G; 12:42470247-42470247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.245A>G; p.E82G; 12:42470247-42470247

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.483_499del17; p.C161fs*1; 12:42468715-42468731

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.493C>G; p.L165V; 12:42468721-42468721

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2173A>G; p.I725V; 12:42460132-42460132

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.203G>C; p.R68P; 12:42470289-42470289

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1022G>A; p.R341Q; 12:42465012-42465012

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.342T>C; p.I114I; 12:42469492-42469492

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2459A>C; p.K820T; 12:42459846-42459846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1722T>A; p.C574*; 12:42460583-42460583

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1558T>C; p.S520P; 12:42464476-42464476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.803A>G; p.D268G; 12:42465231-42465231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1639+4C>T; p.?; 12:42464391-42464391

 livercarcinomaUnknown

c.1115C>A; p.S372Y; 12:42464919-42464919

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.327G>T; p.L109L; 12:42469507-42469507

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2241A>C; p.G747G; 12:42460064-42460064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2457G>C; p.K819N; 12:42459848-42459848

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.743C>T; p.A248V; 12:42466226-42466226

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2158G>T; p.E720*; 12:42460147-42460147

 skinmalignant_melanomaSubstitution - Nonsense

c.2206C>G; p.H736D; 12:42460099-42460099

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2132A>C; p.K711T; 12:42460173-42460173

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.227T>C; p.L76S; 12:42470265-42470265

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.820G>A; p.A274T; 12:42465214-42465214

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.A274T; 12:42465214-42465214

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2218G>A; p.D740N; 12:42460087-42460087

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2206C>A; p.H736N; 12:42460099-42460099

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.349C>A; p.L117M; 12:42469485-42469485

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1388C>G; p.A463G; 12:42464646-42464646

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1861A>C; p.R621R; 12:42460444-42460444

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.884C>T; p.P295L; 12:42465150-42465150

 pancreascarcinomaSubstitution - Missense

c.884C>T; p.P295L; 12:42465150-42465150

 pancreascarcinomaSubstitution - Missense

c.884C>T; p.P295L; 12:42465150-42465150

 pancreascarcinomaSubstitution - Missense

c.803A>T; p.D268V; 12:42465231-42465231

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1321G>T; p.E441*; 12:42464713-42464713

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2030G>T; p.R677I; 12:42460275-42460275

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1771A>T; p.S591C; 12:42460534-42460534

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.593T>G; p.I198S; 12:42466376-42466376

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2325A>C; p.E775D; 12:42459980-42459980

 skinmalignant_melanomaSubstitution - Missense

c.113_114insC; p.L40fs*22; 12:42472403-42472404

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2483G>T; p.C828F; 12:42459822-42459822

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1279C>G; p.L427V; 12:42464755-42464755

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.768A>G; p.E256E; 12:42466201-42466201

 skin; armmalignant_melanomaSubstitution - coding silent

c.2105G>A; p.R702Q; 12:42460200-42460200

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>G; p.L527R; 12:42464454-42464454

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2487T>C; p.I829I; 12:42459818-42459818

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1351A>G; p.S451G; 12:42464683-42464683

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1607C>T; p.S536L; 12:42464427-42464427

 skin; handmalignant_melanomaSubstitution - Missense

c.1607C>T; p.S536L; 12:42464427-42464427

 skinmalignant_melanomaSubstitution - Missense

c.591A>C; p.I197I; 12:42466378-42466378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1888C>G; p.Q630E; 12:42460417-42460417

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.540C>T; p.G180G; 12:42468674-42468674

 skinmalignant_melanomaSubstitution - coding silent

c.529A>G; p.I177V; 12:42468685-42468685

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.529A>G; p.I177V; 12:42468685-42468685

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1685C>A; p.S562Y; 12:42460620-42460620

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2496A>G; p.*832*; 12:42459809-42459809

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2417C>A; p.P806H; 12:42459888-42459888

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540C>T; p.G180G; 12:42468674-42468674

 skinmalignant_melanomaSubstitution - coding silent

c.307C>T; p.Q103*; 12:42469527-42469527

 skinmalignant_melanomaSubstitution - Nonsense

c.2104C>T; p.R702W; 12:42460201-42460201

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260A>T; p.Q87L; 12:42469574-42469574

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2194G>A; p.G732R; 12:42460111-42460111

 skinmalignant_melanomaSubstitution - Missense

c.1899T>C; p.F633F; 12:42460406-42460406

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1837C>T; p.P613S; 12:42460468-42460468

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2320G>A; p.E774K; 12:42459985-42459985

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.2139A>G; p.I713M; 12:42460166-42460166

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

')