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

Basic Information

Gene ID

167465

Name

ZNF366

Synonymous

zinc finger protein 366;ZNF366;zinc finger protein 366

Definition

-

Position

5q13.2|5q13.2

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 0.09.

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.58A>G; p.K20E; 5:72461439-72461439

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.58A>G; p.K20E; 5:72461439-72461439

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.58A>G; p.K20E; 5:72461439-72461439

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.58A>G; p.K20E; 5:72461439-72461439

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.479T>C; p.V160A; 5:72461018-72461018

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.217G>A; p.G73R; 5:72461280-72461280

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325C>T; p.L109F; 5:72461172-72461172

skinmalignant_melanomaSubstitution - Missense

c.1187C>T; p.S396F; 5:72460310-72460310

skinmalignant_melanomaSubstitution - Missense

c.1187C>T; p.S396F; 5:72460310-72460310

skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.E356K; 5:72460431-72460431

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.494C>T; p.T165M; 5:72461003-72461003

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1077C>T; p.H359H; 5:72460420-72460420

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.666C>T; p.S222S; 5:72460831-72460831

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.858C>T; p.C286C; 5:72460639-72460639

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1690C>T; p.H564Y; 5:72447252-72447252

skinmalignant_melanomaSubstitution - Missense

c.1822G>A; p.G608R; 5:72444169-72444169

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1886A>C; p.E629A; 5:72444105-72444105

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2072G>A; p.R691K; 5:72443919-72443919

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.654G>A; p.E218E; 5:72460843-72460843

thyroidother; neoplasmSubstitution - coding silent

c.976C>T; p.R326C; 5:72460521-72460521

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.E218K; 5:72460845-72460845

breastcarcinomaSubstitution - Missense

c.1963G>A; p.A655T; 5:72444028-72444028

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1229A>G; p.N410S; 5:72460268-72460268

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2017G>A; p.G673R; 5:72443974-72443974

skinmalignant_melanomaSubstitution - Missense

c.38T>G; p.V13G; 5:72461459-72461459

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1909C>T; p.P637S; 5:72444082-72444082

skinmalignant_melanomaSubstitution - Missense

c.1418A>C; p.N473T; 5:72456510-72456510

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.52G>C; p.A18P; 5:72461445-72461445

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1878C>G; p.Y626*; 5:72444113-72444113

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.24C>G; p.I8M; 5:72461473-72461473

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1878C>T; p.Y626Y; 5:72444113-72444113

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.381G>A; p.Q127Q; 5:72461116-72461116

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.582G>A; p.S194S; 5:72460915-72460915

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1830T>G; p.S610R; 5:72444161-72444161

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1993G>C; p.E665Q; 5:72443998-72443998

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.110A>G; p.K37R; 5:72461387-72461387

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1995G>T; p.E665D; 5:72443996-72443996

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.576G>A; p.S192S; 5:72460921-72460921

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1519T>A; p.C507S; 5:72456409-72456409

breastcarcinomaSubstitution - Missense

c.45C>T; p.F15F; 5:72461452-72461452

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.45C>T; p.F15F; 5:72461452-72461452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1488G>A; p.M496I; 5:72456440-72456440

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805G>T; p.V269F; 5:72460692-72460692

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.983T>C; p.M328T; 5:72460514-72460514

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.46G>A; p.D16N; 5:72461451-72461451

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2198G>A; p.R733K; 5:72443793-72443793

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.714C>T; p.I238I; 5:72460783-72460783

skinmalignant_melanomaSubstitution - coding silent

c.1189G>A; p.E397K; 5:72460308-72460308

skinmalignant_melanomaSubstitution - Missense

c.1125C>A; p.P375P; 5:72460372-72460372

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1921C>G; p.Q641E; 5:72444070-72444070

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.400G>A; p.V134M; 5:72461097-72461097

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.400G>A; p.V134M; 5:72461097-72461097

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1699+8C>T; p.?; 5:72447235-72447235

livercarcinomaUnknown

c.1699+8C>T; p.?; 5:72447235-72447235

livercarcinomaUnknown

c.1916G>A; p.S639N; 5:72444075-72444075

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>C; p.E102Q; 5:72461193-72461193

ovaryother; neoplasmSubstitution - Missense

c.500C>A; p.T167N; 5:72460997-72460997

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1356G>A; p.G452G; 5:72456572-72456572

skinmalignant_melanomaSubstitution - coding silent

c.2132G>A; p.G711D; 5:72443859-72443859

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1157C>T; p.T386M; 5:72460340-72460340

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1028G>A; p.G343D; 5:72460469-72460469

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1134C>T; p.A378A; 5:72460363-72460363

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1878C>A; p.Y626*; 5:72444113-72444113

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.512C>T; p.P171L; 5:72460985-72460985

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.R140H; 5:72461078-72461078

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.958C>T; p.Q320*; 5:72460539-72460539

skinmalignant_melanomaSubstitution - Nonsense

c.419G>A; p.R140H; 5:72461078-72461078

breastcarcinomaSubstitution - Missense

c.129C>T; p.P43P; 5:72461368-72461368

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1402G>A; p.V468M; 5:72456526-72456526

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.478G>A; p.V160M; 5:72461019-72461019

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.541C>T; p.H181Y; 5:72460956-72460956

skinmalignant_melanomaSubstitution - Missense

c.1648C>T; p.R550C; 5:72447294-72447294

livercarcinomaSubstitution - Missense

c.1648C>T; p.R550C; 5:72447294-72447294

livercarcinomaSubstitution - Missense

c.422G>A; p.S141N; 5:72461075-72461075

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.384G>A; p.M128I; 5:72461113-72461113

breastcarcinomaSubstitution - Missense

c.422G>A; p.S141N; 5:72461075-72461075

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1110C>T; p.C370C; 5:72460387-72460387

skinmalignant_melanomaSubstitution - coding silent

c.510G>T; p.L170L; 5:72460987-72460987

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1206C>T; p.F402F; 5:72460291-72460291

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1710G>A; p.R570R; 5:72444281-72444281

skinmalignant_melanomaSubstitution - coding silent

c.1838G>A; p.G613D; 5:72444153-72444153

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2138C>A; p.S713Y; 5:72443853-72443853

breastcarcinomaSubstitution - Missense

c.851C>T; p.T284M; 5:72460646-72460646

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.867C>T; p.L289L; 5:72460630-72460630

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.851C>T; p.T284M; 5:72460646-72460646

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1102G>A; p.V368M; 5:72460395-72460395

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1858G>A; p.E620K; 5:72444133-72444133

skinmalignant_melanomaSubstitution - Missense

c.1480G>A; p.A494T; 5:72456448-72456448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1376C>T; p.T459I; 5:72456552-72456552

skinmalignant_melanomaSubstitution - Missense

c.461C>T; p.P154L; 5:72461036-72461036

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1480G>A; p.A494T; 5:72456448-72456448

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1812C>T; p.F604F; 5:72444179-72444179

skinmalignant_melanomaSubstitution - coding silent

c.1302C>A; p.H434Q; 5:72460195-72460195

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1811T>C; p.F604S; 5:72444180-72444180

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1748G>A; p.R583K; 5:72444243-72444243

skin; armmalignant_melanomaSubstitution - Missense

c.1680G>A; p.E560E; 5:72447262-72447262

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.976C>A; p.R326S; 5:72460521-72460521

breastcarcinomaSubstitution - Missense

c.976C>A; p.R326S; 5:72460521-72460521

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1806G>T; p.P602P; 5:72444185-72444185

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.526T>C; p.Y176H; 5:72460971-72460971

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.695T>C; p.V232A; 5:72460802-72460802

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1919A>T; p.Q640L; 5:72444072-72444072

breastcarcinomaSubstitution - Missense

c.1222C>T; p.L408L; 5:72460275-72460275

prostateadenomaSubstitution - coding silent

c.839C>T; p.P280L; 5:72460658-72460658

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.698A>G; p.D233G; 5:72460799-72460799

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1918C>T; p.Q640*; 5:72444073-72444073

skinmalignant_melanomaSubstitution - Nonsense

c.686T>C; p.V229A; 5:72460811-72460811

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.214G>A; p.E72K; 5:72461283-72461283

skinmalignant_melanomaSubstitution - Missense

c.1124C>G; p.P375R; 5:72460373-72460373

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1297C>A; p.P433T; 5:72460200-72460200

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1856A>G; p.E619G; 5:72444135-72444135

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.111G>T; p.K37N; 5:72461386-72461386

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1410C>A; p.I470I; 5:72456518-72456518

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1947C>T; p.S649S; 5:72444044-72444044

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.723C>T; p.S241S; 5:72460774-72460774

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1793G>A; p.R598Q; 5:72444198-72444198

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.887T>C; p.L296P; 5:72460610-72460610

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1459G>A; p.V487M; 5:72456469-72456469

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.888G>A; p.L296L; 5:72460609-72460609

pancreascarcinomaSubstitution - coding silent

c.10G>A; p.E4K; 5:72461487-72461487

skinmalignant_melanomaSubstitution - Missense

c.1018C>T; p.R340C; 5:72460479-72460479

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.866T>C; p.L289P; 5:72460631-72460631

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.866T>C; p.L289P; 5:72460631-72460631

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.775G>A; p.E259K; 5:72460722-72460722

breastcarcinomaSubstitution - Missense

c.309G>T; p.E103D; 5:72461188-72461188

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1164G>A; p.R388R; 5:72460333-72460333

skinmalignant_melanomaSubstitution - coding silent

c.1231C>A; p.H411N; 5:72460266-72460266

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1051G>A; p.E351K; 5:72460446-72460446

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2143delT; p.S715fs*13; 5:72443848-72443848

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.543C>T; p.H181H; 5:72460954-72460954

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.471C>A; p.P157P; 5:72461026-72461026

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.443A>T; p.K148M; 5:72461054-72461054

thyroidother; neoplasmSubstitution - Missense

c.447C>T; p.P149P; 5:72461050-72461050

prostatecarcinomaSubstitution - coding silent

c.57G>A; p.V19V; 5:72461440-72461440

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.389A>G; p.D130G; 5:72461108-72461108

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1738G>T; p.G580C; 5:72444253-72444253

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>A; p.R456Q; 5:72456561-72456561

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1938G>T; p.E646D; 5:72444053-72444053

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>A; p.R456Q; 5:72456561-72456561

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1367G>A; p.R456Q; 5:72456561-72456561

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.206G>T; p.G69V; 5:72461291-72461291

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1670G>T; p.G557V; 5:72447272-72447272

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1515C>G; p.F505L; 5:72456413-72456413

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1920G>A; p.Q640Q; 5:72444071-72444071

breastcarcinomaSubstitution - coding silent

c.977G>A; p.R326H; 5:72460520-72460520

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860G>A; p.G287E; 5:72460637-72460637

skin; trunkmalignant_melanomaSubstitution - Missense

c.977G>A; p.R326H; 5:72460520-72460520

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.68C>T; p.P23L; 5:72461429-72461429

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.700G>A; p.V234M; 5:72460797-72460797

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.515C>T; p.T172M; 5:72460982-72460982

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1299G>A; p.P433P; 5:72460198-72460198

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.796T>A; p.Y266N; 5:72460701-72460701

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.748C>T; p.Q250*; 5:72460749-72460749

parathyroidadenomaSubstitution - Nonsense

c.210C>T; p.V70V; 5:72461287-72461287

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1681C>T; p.R561W; 5:72447261-72447261

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2130G>A; p.R710R; 5:72443861-72443861

skinmalignant_melanomaSubstitution - coding silent

c.182C>T; p.P61L; 5:72461315-72461315

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.776A>G; p.E259G; 5:72460721-72460721

livercarcinomaSubstitution - Missense

c.776A>G; p.E259G; 5:72460721-72460721

livercarcinomaSubstitution - Missense

c.2170G>T; p.D724Y; 5:72443821-72443821

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.28G>A; p.D10N; 5:72461469-72461469

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.436G>T; p.G146W; 5:72461061-72461061

skinmalignant_melanomaSubstitution - Missense

c.1426G>A; p.A476T; 5:72456502-72456502

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.746C>T; p.S249L; 5:72460751-72460751

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1158G>A; p.T386T; 5:72460339-72460339

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.821G>A; p.G274D; 5:72460676-72460676

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.793A>G; p.K265E; 5:72460704-72460704

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.692G>A; p.R231K; 5:72460805-72460805

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.903G>A; p.L301L; 5:72460594-72460594

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.840G>A; p.P280P; 5:72460657-72460657

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.840G>A; p.P280P; 5:72460657-72460657

oesophaguscarcinomaSubstitution - coding silent

c.1723C>A; p.L575M; 5:72444268-72444268

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.265A>C; p.N89H; 5:72461232-72461232

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.152C>T; p.P51L; 5:72461345-72461345

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1046C>T; p.P349L; 5:72460451-72460451

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1341G>T; p.K447N; 5:72456587-72456587

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>T; p.E397*; 5:72460308-72460308

livercarcinomaSubstitution - Nonsense

c.1189G>T; p.E397*; 5:72460308-72460308

livercarcinomaSubstitution - Nonsense

c.1599C>G; p.F533L; 5:72447343-72447343

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1396C>T; p.R466*; 5:72456532-72456532

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.532C>T; p.P178S; 5:72460965-72460965

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1847G>A; p.C616Y; 5:72444144-72444144

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1594C>A; p.P532T; 5:72447348-72447348

pancreascarcinomaSubstitution - Missense

c.231G>A; p.R77R; 5:72461266-72461266

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.846G>A; p.A282A; 5:72460651-72460651

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.538G>T; p.V180F; 5:72460959-72460959

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.591_592insA; p.F198fs*43; 5:72460905-72460906

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1723C>T; p.L575L; 5:72444268-72444268

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1923G>A; p.Q641Q; 5:72444068-72444068

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.837G>C; p.K279N; 5:72460660-72460660

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1785G>T; p.Q595H; 5:72444206-72444206

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.A217A; 5:72460846-72460846

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1174C>T; p.Q392*; 5:72460323-72460323

skinmalignant_melanomaSubstitution - Nonsense

c.1907C>T; p.A636V; 5:72444084-72444084

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1890C>T; p.P630P; 5:72444101-72444101

livercarcinomaSubstitution - coding silent

c.1140G>A; p.L380L; 5:72460357-72460357

skinmalignant_melanomaSubstitution - coding silent

c.1890C>T; p.P630P; 5:72444101-72444101

livercarcinomaSubstitution - coding silent

c.2185G>T; p.E729*; 5:72443806-72443806

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1879G>T; p.E627*; 5:72444112-72444112

livercarcinomaSubstitution - Nonsense

c.1103T>C; p.V368A; 5:72460394-72460394

central_nervous_system; braingliomaSubstitution - Missense

c.567C>T; p.F189F; 5:72460930-72460930

skinmalignant_melanomaSubstitution - coding silent

c.567C>T; p.F189F; 5:72460930-72460930

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1503C>T; p.D501D; 5:72456425-72456425

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2034G>A; p.R678R; 5:72443957-72443957

prostatecarcinomaSubstitution - coding silent

c.715G>A; p.D239N; 5:72460782-72460782

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1089C>T; p.R363R; 5:72460408-72460408

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2109G>A; p.R703R; 5:72443882-72443882

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2047C>A; p.L683I; 5:72443944-72443944

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.359C>T; p.P120L; 5:72461138-72461138

livercarcinomaSubstitution - Missense

c.359C>T; p.P120L; 5:72461138-72461138

skinmalignant_melanomaSubstitution - Missense

c.359C>T; p.P120L; 5:72461138-72461138

livercarcinomaSubstitution - Missense

c.1086G>A; p.G362G; 5:72460411-72460411

skinmalignant_melanomaSubstitution - coding silent

c.348C>T; p.F116F; 5:72461149-72461149

skinmalignant_melanomaSubstitution - coding silent

c.1491C>T; p.I497I; 5:72456437-72456437

skinmalignant_melanomaSubstitution - coding silent

c.446C>T; p.P149L; 5:72461051-72461051

skinmalignant_melanomaSubstitution - Missense

c.322G>A; p.G108S; 5:72461175-72461175

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1533G>A; p.G511G; 5:72447409-72447409

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.9G>C; p.K3N; 5:72461488-72461488

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.510G>C; p.L170L; 5:72460987-72460987

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>A; p.P39P; 5:72461380-72461380

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2139T>G; p.S713S; 5:72443852-72443852

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.619C>A; p.Q207K; 5:72460878-72460878

central_nervous_system; medullaglioma; astrocytoma_Grade_IIISubstitution - Missense

c.437G>A; p.G146E; 5:72461060-72461060

skinmalignant_melanomaSubstitution - Missense

c.1889C>T; p.P630L; 5:72444102-72444102

skinmalignant_melanomaSubstitution - Missense

c.859G>T; p.G287W; 5:72460638-72460638

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1298C>T; p.P433L; 5:72460199-72460199

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2148T>G; p.D716E; 5:72443843-72443843

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1883T>C; p.V628A; 5:72444108-72444108

livercarcinomaSubstitution - Missense

c.167G>A; p.R56Q; 5:72461330-72461330

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1883T>C; p.V628A; 5:72444108-72444108

livercarcinomaSubstitution - Missense

c.246G>A; p.M82I; 5:72461251-72461251

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2040G>A; p.K680K; 5:72443951-72443951

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.298C>T; p.H100Y; 5:72461199-72461199

skinmalignant_melanomaSubstitution - Missense

c.524C>T; p.P175L; 5:72460973-72460973

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.889C>T; p.H297Y; 5:72460608-72460608

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense


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