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

Basic Information

Gene ID

55818

Name

KDM3A

Synonymous

lysine (K)-specific demethylase 3A;KDM3A;lysine (K)-specific demethylase 3A

Definition

jmjC domain-containing histone demethylation protein 2A|jumonji C domain-containing histone demethylase 2A|jumonji domain containing 1|jumonji domain containing 1A|jumonji domain-containing protein 1A|lysine-specific demethylase 3A|testis-specific protein

Position

2p11.2

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 0.15.

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.397T>G; p.F133V; 2:86451157-86451157

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2422G>C; p.G808R; 2:86480272-86480272

 prostatecarcinomaSubstitution - Missense

c.1765T>C; p.F589L; 2:86474816-86474816

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1706G>A; p.R569H; 2:86470390-86470390

 central_nervous_system; braingliomaSubstitution - Missense

c.2447C>T; p.A816V; 2:86480297-86480297

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.52C>A; p.L18I; 2:86442099-86442099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2242A>T; p.K748*; 2:86478661-86478661

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.3915A>G; p.K1305K; 2:86492068-86492068

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1778A>G; p.N593S; 2:86474829-86474829

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30G>C; p.P10P; 2:86442077-86442077

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.30G>C; p.P10P; 2:86442077-86442077

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3561A>G; p.E1187E; 2:86489647-86489647

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3546G>A; p.T1182T; 2:86489632-86489632

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3215C>G; p.P1072R; 2:86485761-86485761

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.224G>T; p.R75I; 2:86449844-86449844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3685C>G; p.Q1229E; 2:86490992-86490992

 breastcarcinomaSubstitution - Missense

c.2759C>G; p.T920S; 2:86482531-86482531

 pleurapulmonary_blastomaSubstitution - Missense

c.448A>G; p.I150V; 2:86451208-86451208

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.956C>T; p.T319I; 2:86464165-86464165

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1699T>G; p.F567V; 2:86470383-86470383

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1590C>T; p.F530F; 2:86470274-86470274

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1416A>G; p.V472V; 2:86466780-86466780

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2948A>C; p.H983P; 2:86484012-86484012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2848C>T; p.R950C; 2:86482620-86482620

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3205A>T; p.I1069F; 2:86485751-86485751

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2061C>T; p.C687C; 2:86477998-86477998

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2951A>C; p.K984T; 2:86484015-86484015

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2188G>T; p.A730S; 2:86478265-86478265

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.3020T>C; p.V1007A; 2:86484084-86484084

 skinmalignant_melanomaSubstitution - Missense

c.3896T>C; p.V1299A; 2:86492049-86492049

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1595A>T; p.Q532L; 2:86470279-86470279

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1595A>T; p.Q532L; 2:86470279-86470279

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.469C>T; p.R157*; 2:86455100-86455100

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.469C>T; p.R157*; 2:86455100-86455100

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.3108T>C; p.N1036N; 2:86484955-86484955

 breastcarcinomaSubstitution - coding silent

c.469C>T; p.R157*; 2:86455100-86455100

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.469C>T; p.R157*; 2:86455100-86455100

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2803A>G; p.S935G; 2:86482575-86482575

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2836C>G; p.L946V; 2:86482608-86482608

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.44G>T; p.R15M; 2:86442091-86442091

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2229G>A; p.A743A; 2:86478648-86478648

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2640C>T; p.N880N; 2:86482057-86482057

 breastcarcinomaSubstitution - coding silent

c.2491A>C; p.N831H; 2:86480341-86480341

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3095-3C>T; p.?; 2:86484939-86484939

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1664G>A; p.R555H; 2:86470348-86470348

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2491A>C; p.N831H; 2:86480341-86480341

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1664G>A; p.R555H; 2:86470348-86470348

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.863C>A; p.P288H; 2:86464072-86464072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1091G>A; p.C364Y; 2:86466455-86466455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329delA; p.Q110fs*5; 2:86449949-86449949

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.735C>T; p.H245H; 2:86456858-86456858

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3076G>T; p.G1026*; 2:86484140-86484140

 skinmalignant_melanomaSubstitution - Nonsense

c.1439G>T; p.R480L; 2:86466803-86466803

 livercarcinomaSubstitution - Missense

c.1468A>C; p.K490Q; 2:86466832-86466832

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1468A>C; p.K490Q; 2:86466832-86466832

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1663C>T; p.R555C; 2:86470347-86470347

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2143C>T; p.H715Y; 2:86478220-86478220

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.431A>T; p.K144I; 2:86451191-86451191

 livercarcinomaSubstitution - Missense

c.2007C>G; p.I669M; 2:86477944-86477944

 breastcarcinomaSubstitution - Missense

c.3097C>T; p.R1033C; 2:86484944-86484944

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.441G>A; p.L147L; 2:86451201-86451201

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2628C>T; p.P876P; 2:86482045-86482045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.420A>G; p.V140V; 2:86451180-86451180

 livercarcinomaSubstitution - coding silent

c.3568delA; p.K1191fs*24; 2:86489654-86489654

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3355C>G; p.L1119V; 2:86489359-86489359

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3314-2A>T; p.?; 2:86489316-86489316

 biliary_tract; bile_ductcarcinoma; adenocarcinomaUnknown

c.3254C>G; p.S1085C; 2:86485800-86485800

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3144G>A; p.W1048*; 2:86484991-86484991

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.191G>A; p.C64Y; 2:86449811-86449811

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3919G>A; p.A1307T; 2:86492072-86492072

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.309A>C; p.E103D; 2:86449929-86449929

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1438C>T; p.R480*; 2:86466802-86466802

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1438C>T; p.R480*; 2:86466802-86466802

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.505G>T; p.E169*; 2:86455136-86455136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.505G>T; p.E169*; 2:86455136-86455136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1438C>T; p.R480*; 2:86466802-86466802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.319C>T; p.R107*; 2:86449939-86449939

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3203A>C; p.N1068T; 2:86485749-86485749

 livercarcinomaSubstitution - Missense

c.3203A>C; p.N1068T; 2:86485749-86485749

 livercarcinomaSubstitution - Missense

c.2591C>T; p.T864I; 2:86482008-86482008

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3376G>A; p.A1126T; 2:86489380-86489380

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.573T>A; p.V191V; 2:86456458-86456458

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1205G>A; p.R402K; 2:86466569-86466569

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.573T>A; p.V191V; 2:86456458-86456458

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.376G>A; p.G126R; 2:86451136-86451136

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3314-1G>A; p.?; 2:86489317-86489317

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1205G>A; p.R402K; 2:86466569-86466569

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3017T>C; p.L1006P; 2:86484081-86484081

 pancreascarcinomaSubstitution - Missense

c.2290C>T; p.P764S; 2:86478709-86478709

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2426G>A; p.S809N; 2:86480276-86480276

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1649G>A; p.R550H; 2:86470333-86470333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3383A>C; p.N1128T; 2:86489387-86489387

 livercarcinomaSubstitution - Missense

c.3383A>C; p.N1128T; 2:86489387-86489387

 livercarcinomaSubstitution - Missense

c.2012A>G; p.N671S; 2:86477949-86477949

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2012A>G; p.N671S; 2:86477949-86477949

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.2656C>A; p.R886R; 2:86482073-86482073

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2876A>G; p.N959S; 2:86482648-86482648

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2647G>A; p.G883S; 2:86482064-86482064

 breastcarcinomaSubstitution - Missense

c.187G>T; p.V63L; 2:86449807-86449807

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2672C>G; p.S891C; 2:86482089-86482089

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.708G>A; p.P236P; 2:86456831-86456831

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2221G>C; p.V741L; 2:86478640-86478640

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1400G>A; p.C467Y; 2:86466764-86466764

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.727G>T; p.V243F; 2:86456850-86456850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1582G>A; p.E528K; 2:86470266-86470266

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.713T>A; p.L238Q; 2:86456836-86456836

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3371C>G; p.S1124C; 2:86489375-86489375

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3371C>G; p.S1124C; 2:86489375-86489375

 NSNSSubstitution - Missense

c.3200C>A; p.A1067D; 2:86485746-86485746

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3842G>A; p.R1281Q; 2:86491232-86491232

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3933G>A; p.L1311L; 2:86492086-86492086

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3933G>A; p.L1311L; 2:86492086-86492086

 oesophaguscarcinomaSubstitution - coding silent

c.70G>A; p.D24N; 2:86442117-86442117

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2279T>G; p.L760R; 2:86478698-86478698

 breastcarcinomaSubstitution - Missense

c.1122G>A; p.Q374Q; 2:86466486-86466486

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.672C>T; p.N224N; 2:86456557-86456557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1401T>C; p.C467C; 2:86466765-86466765

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1401T>C; p.C467C; 2:86466765-86466765

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1401T>C; p.C467C; 2:86466765-86466765

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2898T>C; p.F966F; 2:86482670-86482670

 breastcarcinomaSubstitution - coding silent

c.3434-1G>T; p.?; 2:86489519-86489519

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.3500A>C; p.K1167T; 2:86489586-86489586

 livercarcinomaSubstitution - Missense

c.1630C>T; p.P544S; 2:86470314-86470314

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3508C>G; p.P1170A; 2:86489594-86489594

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1351_1358delAATGCACC; p.N451fs*8; 2:86466715-86466722

 breastcarcinomaDeletion - Frameshift

c.326T>C; p.V109A; 2:86449946-86449946

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2421C>T; p.A807A; 2:86480271-86480271

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3305A>C; p.N1102T; 2:86485851-86485851

 skinmalignant_melanomaSubstitution - Missense

c.1434T>C; p.A478A; 2:86466798-86466798

 breastcarcinomaSubstitution - coding silent

c.3612C>T; p.H1204H; 2:86490919-86490919

 pancreascarcinomaSubstitution - coding silent

c.2486G>A; p.S829N; 2:86480336-86480336

 breastcarcinomaSubstitution - Missense

c.366A>C; p.K122N; 2:86451126-86451126

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3661C>T; p.R1221C; 2:86490968-86490968

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3639T>C; p.Y1213Y; 2:86490946-86490946

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2656C>T; p.R886W; 2:86482073-86482073

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.784C>T; p.R262C; 2:86457012-86457012

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2656C>T; p.R886W; 2:86482073-86482073

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3037G>A; p.E1013K; 2:86484101-86484101

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3685C>T; p.Q1229*; 2:86490992-86490992

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2778G>A; p.R926R; 2:86482550-86482550

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3851C>A; p.S1284*; 2:86491241-86491241

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3670C>G; p.Q1224E; 2:86490977-86490977

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1122G>T; p.Q374H; 2:86466486-86466486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3802G>A; p.E1268K; 2:86491192-86491192

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1188C>T; p.N396N; 2:86466552-86466552

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3802G>A; p.E1268K; 2:86491192-86491192

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1226C>T; p.A409V; 2:86466590-86466590

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2627C>A; p.P876H; 2:86482044-86482044

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1006G>C; p.G336R; 2:86464215-86464215

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3490_3491insT; p.E1165fs*1; 2:86489576-86489577

 livercarcinomaInsertion - Frameshift

c.1257T>C; p.P419P; 2:86466621-86466621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2738C>T; p.S913F; 2:86482510-86482510

 skinmalignant_melanomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561C>A; p.D187E; 2:86456446-86456446

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1857G>A; p.K619K; 2:86474908-86474908

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.614A>G; p.Q205R; 2:86456499-86456499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3670C>T; p.Q1224*; 2:86490977-86490977

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1995C>T; p.C665C; 2:86477932-86477932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2288A>G; p.K763R; 2:86478707-86478707

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1560C>T; p.L520L; 2:86470244-86470244

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.99G>A; p.W33*; 2:86442146-86442146

 livercarcinomaSubstitution - Nonsense

c.99G>A; p.W33*; 2:86442146-86442146

 livercarcinomaSubstitution - Nonsense

c.1560C>T; p.L520L; 2:86470244-86470244

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1000C>T; p.P334S; 2:86464209-86464209

 skin; shouldermalignant_melanomaSubstitution - Missense

c.3309T>G; p.A1103A; 2:86485855-86485855

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1429T>G; p.L477V; 2:86466793-86466793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.200T>A; p.F67Y; 2:86449820-86449820

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.16G>T; p.G6*; 2:86442063-86442063

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1397A>G; p.N466S; 2:86466761-86466761

 livercarcinomaSubstitution - Missense

c.1397A>G; p.N466S; 2:86466761-86466761

 livercarcinomaSubstitution - Missense

c.1974T>C; p.V658V; 2:86477911-86477911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2777G>A; p.R926K; 2:86482549-86482549

 pancreascarcinomaSubstitution - Missense

c.255G>A; p.R85R; 2:86449875-86449875

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2154G>A; p.E718E; 2:86478231-86478231

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1559T>A; p.L520H; 2:86470243-86470243

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1559T>A; p.L520H; 2:86470243-86470243

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1739A>C; p.K580T; 2:86474790-86474790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2626C>T; p.P876S; 2:86482043-86482043

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3747T>C; p.H1249H; 2:86491054-86491054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1333T>C; p.S445P; 2:86466697-86466697

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.277A>C; p.N93H; 2:86449897-86449897

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2533A>C; p.I845L; 2:86481950-86481950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2011A>G; p.N671D; 2:86477948-86477948

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.293A>G; p.E98G; 2:86449913-86449913

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.993delA; p.I333fs*18; 2:86464202-86464202

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1432G>T; p.A478S; 2:86466796-86466796

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2628C>G; p.P876P; 2:86482045-86482045

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1976G>A; p.R659Q; 2:86477913-86477913

 ovaryother; neoplasmSubstitution - Missense

c.114C>T; p.V38V; 2:86442161-86442161

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1339T>C; p.S447P; 2:86466703-86466703

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559G>C; p.D187H; 2:86456444-86456444

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.559G>C; p.D187H; 2:86456444-86456444

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2239A>G; p.I747V; 2:86478658-86478658

 thyroidcarcinomaSubstitution - Missense

c.1334C>T; p.S445F; 2:86466698-86466698

 skinmalignant_melanomaSubstitution - Missense

c.3267C>G; p.N1089K; 2:86485813-86485813

 prostatecarcinomaSubstitution - Missense

c.1433C>T; p.A478V; 2:86466797-86466797

 skinmalignant_melanomaSubstitution - Missense

c.3095-3C>G; p.?; 2:86484939-86484939

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2219C>A; p.S740Y; 2:86478638-86478638

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2368C>T; p.P790S; 2:86480218-86480218

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1263G>C; p.K421N; 2:86466627-86466627

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.69C>T; p.A23A; 2:86442116-86442116

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2215C>T; p.H739Y; 2:86478634-86478634

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2145T>C; p.H715H; 2:86478222-86478222

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1073G>T; p.R358I; 2:86466437-86466437

 breastcarcinomaSubstitution - Missense

c.2703G>T; p.K901N; 2:86482475-86482475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3307G>A; p.A1103T; 2:86485853-86485853

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.396C>T; p.R132R; 2:86451156-86451156

 skinmalignant_melanomaSubstitution - coding silent

c.395G>A; p.R132H; 2:86451155-86451155

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3563T>G; p.F1188C; 2:86489649-86489649

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3001G>T; p.E1001*; 2:86484065-86484065

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

')