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

Basic Information

Gene ID

8437

Name

RASAL1

Synonymous

RAS protein activator like 1 (GAP1 like);RASAL1;RAS protein activator like 1 (GAP1 like)

Definition

GAP1 like protein|rasGAP-activating-like protein 1

Position

12q23-q24

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 0.08.

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.2292C>T; p.V764V; 12:113100052-113100052

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1931C>T; p.T644M; 12:113104195-113104195

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1377T>A; p.D459E; 12:113108220-113108220

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.485G>A; p.W162*; 12:113119387-113119387

 skinmalignant_melanomaSubstitution - Nonsense

c.559C>T; p.R187W; 12:113119211-113119211

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2107G>A; p.G703S; 12:113102004-113102004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31G>C; p.V11L; 12:113135432-113135432

 breastcarcinomaSubstitution - Missense

c.31G>C; p.V11L; 12:113135432-113135432

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1644G>A; p.V548V; 12:113107110-113107110

 skinmalignant_melanomaSubstitution - coding silent

c.2319C>A; p.A773A; 12:113100025-113100025

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1513G>A; p.A505T; 12:113107241-113107241

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1154C>T; p.P385L; 12:113114827-113114827

 skinmalignant_melanomaSubstitution - Missense

c.172A>T; p.T58S; 12:113128129-113128129

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.213C>G; p.Y71*; 12:113128088-113128088

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1654G>A; p.E552K; 12:113107100-113107100

 skinmalignant_melanomaSubstitution - Missense

c.1092C>A; p.H364Q; 12:113114889-113114889

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2250G>A; p.M750I; 12:113100653-113100653

 skinmalignant_melanomaSubstitution - Missense

c.1754G>A; p.R585H; 12:113105787-113105787

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1529G>A; p.G510E; 12:113107225-113107225

 skinmalignant_melanomaSubstitution - Missense

c.946C>T; p.R316W; 12:113115692-113115692

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1094A>G; p.E365G; 12:113114887-113114887

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1185G>A; p.R395R; 12:113112275-113112275

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1739C>T; p.A580V; 12:113105802-113105802

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1783C>T; p.L595F; 12:113105758-113105758

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099C>A; p.L367M; 12:113114882-113114882

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1818T>C; p.P606P; 12:113105723-113105723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1044C>T; p.S348S; 12:113115224-113115224

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.123G>A; p.R41R; 12:113128178-113128178

 skinmalignant_melanomaSubstitution - coding silent

c.394G>T; p.G132C; 12:113121543-113121543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.351G>C; p.Q117H; 12:113121586-113121586

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.326G>T; p.R109L; 12:113121611-113121611

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.853G>A; p.D285N; 12:113115785-113115785

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2358C>T; p.H786H; 12:113099986-113099986

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1392C>A; p.A464A; 12:113108205-113108205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1313G>A; p.R438H; 12:113112147-113112147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2350C>T; p.R784C; 12:113099994-113099994

 skin; upper_backmalignant_melanomaSubstitution - Missense

c.1753C>T; p.R585C; 12:113105788-113105788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2350C>T; p.R784C; 12:113099994-113099994

 skinmalignant_melanomaSubstitution - Missense

c.2350C>T; p.R784C; 12:113099994-113099994

 skinmalignant_melanomaSubstitution - Missense

c.1645G>C; p.D549H; 12:113107109-113107109

 breastcarcinomaSubstitution - Missense

c.555G>T; p.E185D; 12:113119215-113119215

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.651C>A; p.F217L; 12:113117153-113117153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1005G>A; p.M335I; 12:113115263-113115263

 skinmalignant_melanomaSubstitution - Missense

c.105C>A; p.D35E; 12:113130902-113130902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.R394W; 12:113114801-113114801

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.91C>A; p.L31I; 12:113130916-113130916

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1538G>A; p.G513D; 12:113107216-113107216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.252C>T; p.I84I; 12:113127858-113127858

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1714C>T; p.L572L; 12:113105827-113105827

 skinmalignant_melanomaSubstitution - coding silent

c.460T>A; p.S154T; 12:113119412-113119412

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1860C>T; p.R620R; 12:113104266-113104266

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.849G>T; p.E283D; 12:113115934-113115934

 breastcarcinomaSubstitution - Missense

c.217C>T; p.L73L; 12:113128084-113128084

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.450C>A; p.I150I; 12:113119422-113119422

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1459C>T; p.R487W; 12:113108138-113108138

 breastcarcinomaSubstitution - Missense

c.936C>T; p.L312L; 12:113115702-113115702

 skinmalignant_melanomaSubstitution - coding silent

c.2038G>A; p.A680T; 12:113104009-113104009

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.894G>T; p.L298F; 12:113115744-113115744

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.406C>T; p.R136C; 12:113121531-113121531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.288C>G; p.A96A; 12:113127822-113127822

 skinmalignant_melanomaSubstitution - coding silent

c.1259G>A; p.G420E; 12:113112201-113112201

 skinmalignant_melanomaSubstitution - Missense

c.1050G>A; p.S350S; 12:113115218-113115218

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1149G>A; p.L383L; 12:113114832-113114832

 skinmalignant_melanomaSubstitution - coding silent

c.591G>A; p.R197R; 12:113119179-113119179

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1025G>C; p.R342P; 12:113115243-113115243

 breastcarcinomaSubstitution - Missense

c.1950C>T; p.T650T; 12:113104176-113104176

 thyroidcarcinomaSubstitution - coding silent

c.683A>C; p.K228T; 12:113117121-113117121

 skinmalignant_melanomaSubstitution - Missense

c.1191C>T; p.S397S; 12:113112269-113112269

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1926C>T; p.D642D; 12:113104200-113104200

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1989G>A; p.W663*; 12:113104058-113104058

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2209C>T; p.R737W; 12:113101902-113101902

 central_nervous_system; braingliomaSubstitution - Missense

c.175G>A; p.V59M; 12:113128126-113128126

 skinmalignant_melanomaSubstitution - Missense

c.2209C>T; p.R737W; 12:113101902-113101902

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1685C>T; p.P562L; 12:113105856-113105856

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.226G>T; p.D76Y; 12:113128075-113128075

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.226G>T; p.D76Y; 12:113128075-113128075

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1025G>A; p.R342H; 12:113115243-113115243

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - Missense

c.1025G>A; p.R342H; 12:113115243-113115243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1025G>A; p.R342H; 12:113115243-113115243

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1703G>A; p.R568Q; 12:113105838-113105838

 skinmalignant_melanomaSubstitution - Missense

c.370G>C; p.V124L; 12:113121567-113121567

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>T; p.H80H; 12:113127870-113127870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.663C>T; p.T221T; 12:113117141-113117141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1576C>A; p.P526T; 12:113107178-113107178

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.716C>A; p.A239D; 12:113117088-113117088

 skinmalignant_melanomaSubstitution - Missense

c.999G>A; p.R333R; 12:113115639-113115639

 livercarcinomaSubstitution - coding silent

c.999G>A; p.R333R; 12:113115639-113115639

 livercarcinomaSubstitution - coding silent

c.553G>T; p.E185*; 12:113119217-113119217

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.545A>G; p.E182G; 12:113119225-113119225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1472C>T; p.A491V; 12:113108125-113108125

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1683C>T; p.F561F; 12:113105858-113105858

 skinmalignant_melanomaSubstitution - coding silent

c.998G>A; p.R333Q; 12:113115640-113115640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1306G>A; p.A436T; 12:113112154-113112154

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1473G>A; p.A491A; 12:113108124-113108124

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.709C>A; p.P237T; 12:113117095-113117095

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1043C>G; p.S348C; 12:113115225-113115225

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1938G>A; p.A646A; 12:113104188-113104188

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.149G>T; p.G50V; 12:113128152-113128152

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.655C>A; p.P219T; 12:113117149-113117149

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1585C>T; p.P529S; 12:113107169-113107169

 skinmalignant_melanomaSubstitution - Missense

c.2112C>T; p.C704C; 12:113101999-113101999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1625_1626insT; p.D543fs*10; 12:113107128-113107129

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.841C>T; p.P281S; 12:113115942-113115942

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1024C>G; p.R342G; 12:113115244-113115244

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.343G>T; p.E115*; 12:113121594-113121594

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.577C>T; p.P193S; 12:113119193-113119193

 skinmalignant_melanomaSubstitution - Missense

c.577C>T; p.P193S; 12:113119193-113119193

 NSmalignant_melanomaSubstitution - Missense

c.2296G>A; p.A766T; 12:113100048-113100048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2158C>T; p.L720L; 12:113101953-113101953

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1362G>A; p.Q454Q; 12:113112098-113112098

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1165G>C; p.D389H; 12:113114816-113114816

 breastcarcinomaSubstitution - Missense

c.2203C>T; p.L735L; 12:113101908-113101908

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.780C>T; p.R260R; 12:113116003-113116003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.244_246delGAC; p.D82delD; 12:113127864-113127866

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.214G>A; p.V72M; 12:113128087-113128087

 fallopian_tubecarcinoma; serous_carcinomaSubstitution - Missense

c.874T>C; p.L292L; 12:113115764-113115764

 skinmalignant_melanomaSubstitution - coding silent

c.375G>C; p.Q125H; 12:113121562-113121562

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.91C>T; p.L31L; 12:113130916-113130916

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.735delG; p.N246fs*7; 12:113116048-113116048

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.603G>T; p.W201C; 12:113119167-113119167

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1375G>C; p.D459H; 12:113108222-113108222

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.298+2T>A; p.?; 12:113127810-113127810

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.214G>T; p.V72L; 12:113128087-113128087

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.298+2T>A; p.?; 12:113127810-113127810

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.1449G>A; p.L483L; 12:113108148-113108148

 livercarcinomaSubstitution - coding silent

c.1752G>A; p.T584T; 12:113105789-113105789

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.590G>A; p.R197Q; 12:113119180-113119180

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1347G>A; p.E449E; 12:113112113-113112113

 meningesmeningiomaSubstitution - coding silent

c.274G>A; p.E92K; 12:113127836-113127836

 skinmalignant_melanomaSubstitution - Missense

c.1530A>C; p.G510G; 12:113107224-113107224

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.822C>T; p.L274L; 12:113115961-113115961

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1069C>T; p.L357F; 12:113114912-113114912

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.642G>T; p.M214I; 12:113119128-113119128

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.954G>A; p.L318L; 12:113115684-113115684

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.723G>A; p.E241E; 12:113117081-113117081

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1120_1121GT>AA; p.V374N; 12:113114860-113114861

 skinmalignant_melanomaSubstitution - Missense

c.167A>T; p.E56V; 12:113128134-113128134

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.762A>T; p.V254V; 12:113116021-113116021

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.300G>A; p.G100G; 12:113121637-113121637

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1665C>T; p.V555V; 12:113105876-113105876

 skinmalignant_melanomaSubstitution - coding silent

c.1607C>G; p.S536*; 12:113107147-113107147

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.940C>A; p.L314I; 12:113115698-113115698

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1885G>A; p.A629T; 12:113104241-113104241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2336T>G; p.L779R; 12:113100008-113100008

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2381G>A; p.R794Q; 12:113099963-113099963

 skinmalignant_melanomaSubstitution - Missense

c.961C>T; p.R321C; 12:113115677-113115677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.961C>T; p.R321C; 12:113115677-113115677

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1414C>T; p.R472*; 12:113108183-113108183

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1512G>A; p.K504K; 12:113108085-113108085

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.283A>G; p.T95A; 12:113127827-113127827

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1924G>A; p.D642N; 12:113104202-113104202

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1081C>T; p.P361S; 12:113114900-113114900

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2376G>A; p.Q792Q; 12:113099968-113099968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.969G>A; p.L323L; 12:113115669-113115669

 skinmalignant_melanomaSubstitution - coding silent

c.2262_2263GG>AA; p.E755K; 12:113100640-113100641

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.905G>A; p.R302H; 12:113115733-113115733

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.E521K; 12:113107193-113107193

 skinmalignant_melanomaSubstitution - Missense

c.763C>T; p.R255C; 12:113116020-113116020

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.763C>T; p.R255C; 12:113116020-113116020

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.763C>T; p.R255C; 12:113116020-113116020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1803C>A; p.S601S; 12:113105738-113105738

 skinmalignant_melanomaSubstitution - coding silent

c.1637T>G; p.V546G; 12:113107117-113107117

 thyroidother; neoplasmSubstitution - Missense

c.1637T>G; p.V546G; 12:113107117-113107117

 livercarcinomaSubstitution - Missense

c.1709G>T; p.G570V; 12:113105832-113105832

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1631G>A; p.R544Q; 12:113107123-113107123

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1024C>T; p.R342C; 12:113115244-113115244

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1024C>T; p.R342C; 12:113115244-113115244

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2142G>T; p.G714G; 12:113101969-113101969

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.583C>A; p.P195T; 12:113119187-113119187

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1175G>T; p.R392L; 12:113114806-113114806

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1474G>A; p.D492N; 12:113108123-113108123

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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