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

Basic Information

Gene ID

Name

Synonymous

;;

Definition

Position

Gene Type

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

There is no record for

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

There is no record for

Loss of Function mutations compare to missense mutations

Top

There is no record for

The ratio of the loss-of-function mutations over missense mutations is .

The copy number variations for various cancers

Top

There is no record for

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.826G>A; p.G276S; 18:79411140-79411140

thyroidcarcinomaSubstitution - Missense

c.1310C>G; p.A437G; 18:79433701-79433701

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1820A>T; p.N607I; 18:79451772-79451772

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2609G>A; p.R870H; 18:79486803-79486803

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.616G>A; p.E206K; 18:79410930-79410930

skinmalignant_melanomaSubstitution - Missense

c.697G>A; p.V233I; 18:79411011-79411011

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1920+1G>T; p.?; 18:79461367-79461367

lungcarcinoma; adenocarcinomaUnknown

c.1333C>A; p.H445N; 18:79433724-79433724

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2754A>G; p.I918M; 18:79527538-79527538

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.229G>A; p.G77R; 18:79410543-79410543

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.397C>T; p.P133S; 18:79410711-79410711

skinmalignant_melanomaSubstitution - Missense

c.1002G>A; p.A334A; 18:79411316-79411316

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.684G>T; p.S228S; 18:79410998-79410998

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1702G>T; p.A568S; 18:79451105-79451105

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.136C>T; p.P46S; 18:79410450-79410450

NSmalignant_melanomaSubstitution - Missense

c.1587C>T; p.S529S; 18:79450990-79450990

breastcarcinomaSubstitution - coding silent

c.554C>T; p.A185V; 18:79410868-79410868

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.981G>C; p.L327L; 18:79411295-79411295

pancreascarcinomaSubstitution - coding silent

c.422C>T; p.T141M; 18:79410736-79410736

breastcarcinomaSubstitution - Missense

c.981G>C; p.L327L; 18:79411295-79411295

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.981G>C; p.L327L; 18:79411295-79411295

pancreascarcinomaSubstitution - coding silent

c.422C>T; p.T141M; 18:79410736-79410736

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1764G>A; p.Q588Q; 18:79451716-79451716

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.830C>T; p.S277F; 18:79411144-79411144

skinmalignant_melanomaSubstitution - Missense

c.774C>T; p.N258N; 18:79411088-79411088

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2743G>A; p.V915I; 18:79486937-79486937

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1430C>G; p.A477G; 18:79448864-79448864

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1887G>A; p.M629I; 18:79461333-79461333

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1368T>A; p.N456K; 18:79448802-79448802

livercarcinomaSubstitution - Missense

c.1292C>T; p.T431M; 18:79433683-79433683

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1292C>T; p.T431M; 18:79433683-79433683

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.S220S; 18:79410974-79410974

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.201C>T; p.I67I; 18:79410515-79410515

skinmalignant_melanomaSubstitution - coding silent

c.1052C>G; p.A351G; 18:79411366-79411366

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1302C>T; p.S434S; 18:79433693-79433693

stomachadenocarcinomaSubstitution - coding silent

c.1662C>T; p.H554H; 18:79451065-79451065

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2009G>T; p.R670I; 18:79467538-79467538

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.206C>T; p.P69L; 18:79410520-79410520

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904G>A; p.A302T; 18:79411218-79411218

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.779G>T; p.R260L; 18:79411093-79411093

urinary_tract; bladdercarcinomaSubstitution - Missense

c.243C>T; p.D81D; 18:79410557-79410557

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2241G>A; p.A747A; 18:79486435-79486435

thyroidother; neoplasmSubstitution - coding silent

c.2630C>A; p.A877D; 18:79486824-79486824

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.224G>T; p.G75V; 18:79410538-79410538

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.821C>T; p.P274L; 18:79411135-79411135

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1848C>T; p.F616F; 18:79451800-79451800

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1717G>T; p.E573*; 18:79451120-79451120

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.2052C>T; p.N684N; 18:79467581-79467581

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1983C>T; p.V661V; 18:79467512-79467512

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.332C>T; p.S111L; 18:79410646-79410646

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1613C>T; p.T538M; 18:79451016-79451016

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1549G>A; p.V517I; 18:79448983-79448983

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.433A>C; p.S145R; 18:79410747-79410747

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.812C>T; p.T271M; 18:79411126-79411126

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1905G>T; p.R635R; 18:79461351-79461351

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.836G>A; p.R279Q; 18:79411150-79411150

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1656C>T; p.R552R; 18:79451059-79451059

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1216_1217delCT; p.L406fs*8; 18:79433607-79433608

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.738C>T; p.P246P; 18:79411052-79411052

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2212T>G; p.C738G; 18:79486406-79486406

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1904G>A; p.R635Q; 18:79461350-79461350

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1800G>A; p.K600K; 18:79451752-79451752

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - coding silent

c.2212T>G; p.C738G; 18:79486406-79486406

breastcarcinomaSubstitution - Missense

c.2212T>G; p.C738G; 18:79486406-79486406

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1279G>A; p.A427T; 18:79433670-79433670

haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2336A>G; p.Q779R; 18:79486530-79486530

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1136A>C; p.H379P; 18:79411450-79411450

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.747T>G; p.P249P; 18:79411061-79411061

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.776G>T; p.G259V; 18:79411090-79411090

livercarcinomaSubstitution - Missense

c.1947A>G; p.P649P; 18:79467476-79467476

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.747T>G; p.P249P; 18:79411061-79411061

thyroidother; neoplasmSubstitution - coding silent

c.1992C>T; p.Y664Y; 18:79467521-79467521

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.747T>G; p.P249P; 18:79411061-79411061

thyroidother; neoplasmSubstitution - coding silent

c.776G>T; p.G259V; 18:79411090-79411090

livercarcinomaSubstitution - Missense

c.481G>A; p.A161T; 18:79410795-79410795

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.602C>T; p.T201I; 18:79410916-79410916

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1920G>A; p.P640P; 18:79461366-79461366

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.807G>A; p.S269S; 18:79411121-79411121

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1543C>T; p.R515*; 18:79448977-79448977

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2208G>A; p.P736P; 18:79486402-79486402

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1483G>A; p.E495K; 18:79448917-79448917

skinmalignant_melanomaSubstitution - Missense

c.2346A>G; p.G782G; 18:79486540-79486540

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2738A>G; p.D913G; 18:79486932-79486932

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2783C>T; p.T928I; 18:79527567-79527567

skinmalignant_melanomaSubstitution - Missense

c.161delC; p.P55fs*55; 18:79410475-79410475

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2564G>T; p.C855F; 18:79486758-79486758

autonomic_ganglianeuroblastomaSubstitution - Missense

c.1328G>A; p.G443E; 18:79433719-79433719

skinmalignant_melanomaSubstitution - Missense

c.284G>A; p.R95K; 18:79410598-79410598

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2164G>A; p.A722T; 18:79486358-79486358

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1221G>A; p.P407P; 18:79433612-79433612

pancreascarcinomaSubstitution - coding silent

c.295G>A; p.A99T; 18:79410609-79410609

large_intestine; caecumadenomaSubstitution - Missense

c.1247G>A; p.R416Q; 18:79433638-79433638

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2014C>T; p.R672*; 18:79467543-79467543

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.383T>A; p.V128E; 18:79410697-79410697

central_nervous_system; braingliomaSubstitution - Missense

c.631G>A; p.G211R; 18:79410945-79410945

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2101A>C; p.T701P; 18:79486295-79486295

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1828C>T; p.Q610*; 18:79451780-79451780

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.685C>T; p.P229S; 18:79410999-79410999

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.154C>T; p.L52L; 18:79410468-79410468

skinmalignant_melanomaSubstitution - coding silent

c.203C>T; p.P68L; 18:79410517-79410517

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2193C>T; p.L731L; 18:79486387-79486387

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1190C>T; p.P397L; 18:79433581-79433581

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1053C>T; p.A351A; 18:79411367-79411367

prostatecarcinomaSubstitution - coding silent

c.1691C>T; p.S564F; 18:79451094-79451094

skinmalignant_melanomaSubstitution - Missense

c.1786G>A; p.V596M; 18:79451738-79451738

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1310C>T; p.A437V; 18:79433701-79433701

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.131C>T; p.P44L; 18:79410445-79410445

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.787C>G; p.P263A; 18:79411101-79411101

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.322G>A; p.E108K; 18:79410636-79410636

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.825C>T; p.H275H; 18:79411139-79411139

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2030G>A; p.R677H; 18:79467559-79467559

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1147T>G; p.W383G; 18:79411461-79411461

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 18:79410523-79410523

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2762A>G; p.N921S; 18:79527546-79527546

livercarcinomaSubstitution - Missense

c.890C>T; p.S297L; 18:79411204-79411204

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.666G>T; p.R222R; 18:79410980-79410980

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1907A>T; p.D636V; 18:79461353-79461353

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2001C>T; p.N667N; 18:79467530-79467530

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.852C>T; p.D284D; 18:79411166-79411166

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2568G>A; p.P856P; 18:79486762-79486762

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2568G>A; p.P856P; 18:79486762-79486762

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1634C>T; p.T545I; 18:79451037-79451037

pancreascarcinomaSubstitution - Missense

c.520T>G; p.S174A; 18:79410834-79410834

skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.P73P; 18:79410533-79410533

skinmalignant_melanomaSubstitution - coding silent

c.1425G>A; p.P475P; 18:79448859-79448859

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2041C>T; p.L681F; 18:79467570-79467570

skinmalignant_melanomaSubstitution - Missense

c.1323G>A; p.S441S; 18:79433714-79433714

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2239G>A; p.A747T; 18:79486433-79486433

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.169C>T; p.H57Y; 18:79410483-79410483

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.124delG; p.A42fs*68; 18:79410438-79410438

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1620C>T; p.I540I; 18:79451023-79451023

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1620C>T; p.I540I; 18:79451023-79451023

skinmalignant_melanomaSubstitution - coding silent

c.298C>T; p.P100S; 18:79410612-79410612

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132G>T; p.P44P; 18:79410446-79410446

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2125delT; p.L709fs*1; 18:79486319-79486319

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2690C>T; p.P897L; 18:79486884-79486884

skinmalignant_melanomaSubstitution - Missense

c.1818C>A; p.H606Q; 18:79451770-79451770

breastcarcinomaSubstitution - Missense

c.664C>T; p.R222W; 18:79410978-79410978

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1158_1159insA; p.P388fs*27; 18:79411472-79411473

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - Frameshift

c.460G>C; p.D154H; 18:79410774-79410774

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.870C>A; p.N290K; 18:79411184-79411184

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1476C>T; p.T492T; 18:79448910-79448910

prostatecarcinomaSubstitution - coding silent

c.2755A>T; p.I919L; 18:79527539-79527539

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.391G>A; p.V131I; 18:79410705-79410705

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2776A>G; p.T926A; 18:79527560-79527560

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.Y184Y; 18:79410866-79410866

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1686G>A; p.T562T; 18:79451089-79451089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1812T>C; p.S604S; 18:79451764-79451764

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1808T>C; p.L603P; 18:79451760-79451760

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.115G>A; p.V39I; 18:79410429-79410429

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2269G>T; p.D757Y; 18:79486463-79486463

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1111G>A; p.D371N; 18:79411425-79411425

livercarcinomaSubstitution - Missense

c.1111G>A; p.D371N; 18:79411425-79411425

livercarcinomaSubstitution - Missense

c.1111G>A; p.D371N; 18:79411425-79411425

livercarcinomaSubstitution - Missense

c.1716C>T; p.I572I; 18:79451119-79451119

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1474A>C; p.T492P; 18:79448908-79448908

breastcarcinomaSubstitution - Missense

c.2759G>A; p.R920Q; 18:79527543-79527543

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.746C>T; p.P249L; 18:79411060-79411060

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.E177K; 18:79410843-79410843

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2510C>G; p.P837R; 18:79486704-79486704

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.557delC; p.Q188fs*95; 18:79410871-79410871

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2759G>A; p.R920Q; 18:79527543-79527543

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.625C>T; p.P209S; 18:79410939-79410939

skinmalignant_melanomaSubstitution - Missense

c.149C>G; p.S50C; 18:79410463-79410463

parathyroidcarcinomaSubstitution - Missense

c.423G>A; p.T141T; 18:79410737-79410737

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.706G>T; p.E236*; 18:79411020-79411020

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1657G>A; p.V553I; 18:79451060-79451060

breastcarcinomaSubstitution - Missense

c.1093A>T; p.R365W; 18:79411407-79411407

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1614G>A; p.T538T; 18:79451017-79451017

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1112A>G; p.D371G; 18:79411426-79411426

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2165C>T; p.A722V; 18:79486359-79486359

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.628C>A; p.R210S; 18:79410942-79410942

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.686C>T; p.P229L; 18:79411000-79411000

skinmalignant_melanomaSubstitution - Missense

c.1813G>T; p.G605C; 18:79451765-79451765

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1164C>T; p.P388P; 18:79411478-79411478

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.951C>T; p.G317G; 18:79411265-79411265

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.537C>A; p.N179K; 18:79410851-79410851

livercarcinomaSubstitution - Missense

c.537C>A; p.N179K; 18:79410851-79410851

livercarcinomaSubstitution - Missense

c.1536C>G; p.N512K; 18:79448970-79448970

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1189C>T; p.P397S; 18:79433580-79433580

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.258C>A; p.G86G; 18:79410572-79410572

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.553G>A; p.A185T; 18:79410867-79410867

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.952G>A; p.V318I; 18:79411266-79411266

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.952G>A; p.V318I; 18:79411266-79411266

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>T; p.T467M; 18:79448834-79448834

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>T; p.T467M; 18:79448834-79448834

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2199C>T; p.A733A; 18:79486393-79486393

prostatecarcinomaSubstitution - coding silent

c.2085T>G; p.D695E; 18:79486279-79486279

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.706G>A; p.E236K; 18:79411020-79411020

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.107C>T; p.S36F; 18:79410421-79410421

skinmalignant_melanomaSubstitution - Missense

c.1392C>A; p.F464L; 18:79448826-79448826

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1298G>A; p.G433D; 18:79433689-79433689

breastcarcinomaSubstitution - Missense

c.1730G>A; p.R577H; 18:79451682-79451682

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1893G>A; p.A631A; 18:79461339-79461339

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1420C>T; p.R474C; 18:79448854-79448854

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1246C>T; p.R416W; 18:79433637-79433637

livercarcinomaSubstitution - Missense

c.1925C>A; p.S642Y; 18:79467454-79467454

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1925C>A; p.S642Y; 18:79467454-79467454

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1925C>A; p.S642Y; 18:79467454-79467454

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1681C>T; p.R561C; 18:79451084-79451084

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1191G>A; p.P397P; 18:79433582-79433582

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1817A>G; p.H606R; 18:79451769-79451769

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1054G>A; p.D352N; 18:79411368-79411368

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.987G>A; p.Q329Q; 18:79411301-79411301

pancreascarcinomaSubstitution - coding silent

c.684G>A; p.S228S; 18:79410998-79410998

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.684G>A; p.S228S; 18:79410998-79410998

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.136_137CC>TT; p.P46F; 18:79410450-79410451

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2029C>T; p.R677C; 18:79467558-79467558

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549G>A; p.P183P; 18:79410863-79410863

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549G>A; p.P183P; 18:79410863-79410863

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1470C>T; p.S490S; 18:79448904-79448904

skinmalignant_melanomaSubstitution - coding silent

c.1342G>A; p.V448M; 18:79433733-79433733

large_intestine; colonadenomaSubstitution - Missense

c.2493C>T; p.P831P; 18:79486687-79486687

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1629G>T; p.K543N; 18:79451032-79451032

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163C>T; p.P55S; 18:79410477-79410477

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1740G>T; p.Q580H; 18:79451692-79451692

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2036C>T; p.T679I; 18:79467565-79467565

pancreascarcinomaSubstitution - Missense

c.1649T>G; p.V550G; 18:79451052-79451052

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2036C>T; p.T679I; 18:79467565-79467565

pancreascarcinomaSubstitution - Missense

c.2036C>T; p.T679I; 18:79467565-79467565

pancreascarcinomaSubstitution - Missense

c.1649T>G; p.V550G; 18:79451052-79451052

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1649T>G; p.V550G; 18:79451052-79451052

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2036C>T; p.T679I; 18:79467565-79467565

pancreascarcinomaSubstitution - Missense

c.2036C>T; p.T679I; 18:79467565-79467565

pancreascarcinomaSubstitution - Missense

c.2577G>A; p.T859T; 18:79486771-79486771

pancreascarcinomaSubstitution - coding silent

c.2177A>G; p.D726G; 18:79486371-79486371

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1304delG; p.A437fs*2; 18:79433695-79433695

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2058A>G; p.P686P; 18:79486252-79486252

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1825C>T; p.L609L; 18:79451777-79451777

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2186C>G; p.S729C; 18:79486380-79486380

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2134C>T; p.L712F; 18:79486328-79486328

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1171C>T; p.P391S; 18:79411485-79411485

skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.E356K; 18:79411380-79411380

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.990G>A; p.P330P; 18:79411304-79411304

soft_tissue; striated_musclerhabdoid_tumourSubstitution - coding silent

c.2175C>T; p.P725P; 18:79486369-79486369

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2175C>T; p.P725P; 18:79486369-79486369

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.214C>T; p.H72Y; 18:79410528-79410528

skinmalignant_melanomaSubstitution - Missense

c.2250C>T; p.G750G; 18:79486444-79486444

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1301G>T; p.S434I; 18:79433692-79433692

livercarcinomaSubstitution - Missense

c.1301G>T; p.S434I; 18:79433692-79433692

livercarcinomaSubstitution - Missense

c.1320G>A; p.A440A; 18:79433711-79433711

breastcarcinomaSubstitution - coding silent

c.1744C>T; p.L582L; 18:79451696-79451696

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1212G>A; p.W404*; 18:79433603-79433603

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2598G>A; p.P866P; 18:79486792-79486792

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2359G>A; p.V787I; 18:79486553-79486553

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1212G>A; p.W404*; 18:79433603-79433603

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1565G>C; p.G522A; 18:79450968-79450968

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1428C>T; p.H476H; 18:79448862-79448862

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2046C>T; p.P682P; 18:79467575-79467575

central_nervous_system; braingliomaSubstitution - coding silent

c.1269C>G; p.S423S; 18:79433660-79433660

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1993G>A; p.V665I; 18:79467522-79467522

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1993G>A; p.V665I; 18:79467522-79467522

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2213G>A; p.C738Y; 18:79486407-79486407

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.2053+8C>A; p.?; 18:79467590-79467590

livercarcinomaUnknown

c.2053+8C>A; p.?; 18:79467590-79467590

livercarcinoma; hepatocellular_carcinomaUnknown

c.1921-1G>C; p.?; 18:79467449-79467449

lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.353A>G; p.N118S; 18:79410667-79410667

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.566C>T; p.T189M; 18:79410880-79410880

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1920+1G>A; p.?; 18:79461367-79461367

skinmalignant_melanomaUnknown

c.1061C>T; p.A354V; 18:79411375-79411375

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense


')