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

Basic Information

Gene ID

142

Name

PARP1

Synonymous

poly (ADP-ribose) polymerase 1;PARP1;poly (ADP-ribose) polymerase 1

Definition

ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)|ADP-ribosyltransferase NAD(+)|ADP-ribosyltransferase diphtheria toxin-like 1|NAD(+) ADP-ribosyltransferase 1|poly (ADP-ribose) polymerase family, member 1|poly [ADP-ribose] polymerase 1|poly(ADP-

Position

1q41-q42

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 0.06.

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.1229C>T; p.A410V; 1:226381139-226381139

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.236G>T; p.W79L; 1:226402264-226402264

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.236G>T; p.W79L; 1:226402264-226402264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1673G>T; p.G558V; 1:226379214-226379214

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2893G>A; p.D965N; 1:226362039-226362039

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2032G>C; p.D678H; 1:226374264-226374264

 breastcarcinomaSubstitution - Missense

c.2032G>C; p.D678H; 1:226374264-226374264

 parathyroidcarcinomaSubstitution - Missense

c.2125G>A; p.A709T; 1:226370463-226370463

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2125G>A; p.A709T; 1:226370463-226370463

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.608A>G; p.K203R; 1:226390419-226390419

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2717A>G; p.N906S; 1:226364012-226364012

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.519G>A; p.R173R; 1:226390508-226390508

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2695G>A; p.D899N; 1:226364034-226364034

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2794C>T; p.L932L; 1:226363153-226363153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1383C>T; p.D461D; 1:226380082-226380082

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.1268C>T; p.A423V; 1:226381100-226381100

 pancreascarcinomaSubstitution - Missense

c.835A>C; p.I279L; 1:226385680-226385680

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2124C>T; p.A708A; 1:226370464-226370464

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.2124C>T; p.A708A; 1:226370464-226370464

 pancreascarcinomaSubstitution - coding silent

c.2124C>T; p.A708A; 1:226370464-226370464

 pancreascarcinomaSubstitution - coding silent

c.2483C>T; p.A828V; 1:226365976-226365976

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1443G>C; p.W481C; 1:226380022-226380022

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1947A>C; p.E649D; 1:226374349-226374349

 skinmalignant_melanomaSubstitution - Missense

c.1508T>G; p.L503R; 1:226379957-226379957

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1905C>G; p.P635P; 1:226377144-226377144

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2728A>G; p.T910A; 1:226364001-226364001

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1888A>C; p.N630H; 1:226377161-226377161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1703C>G; p.S568C; 1:226379184-226379184

 breastcarcinomaSubstitution - Missense

c.1872C>T; p.N624N; 1:226377177-226377177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.652G>A; p.E218K; 1:226388721-226388721

 skinmalignant_melanomaSubstitution - Missense

c.1872C>T; p.N624N; 1:226377177-226377177

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2919C>T; p.T973T; 1:226362013-226362013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1872C>T; p.N624N; 1:226377177-226377177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1965G>A; p.L655L; 1:226374331-226374331

 breastcarcinomaSubstitution - coding silent

c.91G>A; p.D31N; 1:226407839-226407839

 thyroidother; neoplasmSubstitution - Missense

c.2382T>A; p.Y794*; 1:226367504-226367504

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2691C>T; p.F897F; 1:226364038-226364038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2691C>T; p.F897F; 1:226364038-226364038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1771C>T; p.R591C; 1:226377278-226377278

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1209G>A; p.R403R; 1:226381159-226381159

 breastcarcinomaSubstitution - coding silent

c.2296G>A; p.D766N; 1:226367590-226367590

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2422T>A; p.S808T; 1:226366037-226366037

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.229C>A; p.L77I; 1:226402271-226402271

 breastcarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1505C>T; p.A502V; 1:226379960-226379960

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.790C>G; p.L264V; 1:226386370-226386370

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.1159+2T>C; p.?; 1:226383034-226383034

 pleurapulmonary_blastomaUnknown

c.26A>G; p.Y9C; 1:226407904-226407904

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2398G>A; p.D800N; 1:226367488-226367488

 breastcarcinomaSubstitution - Missense

c.2626_2627GG>AA; p.G876N; 1:226365033-226365034

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.533C>T; p.A178V; 1:226390494-226390494

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.450G>A; p.Q150Q; 1:226390577-226390577

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.533C>T; p.A178V; 1:226390494-226390494

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1873G>A; p.A625T; 1:226377176-226377176

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1873G>A; p.A625T; 1:226377176-226377176

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.833C>T; p.A278V; 1:226386327-226386327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1195G>T; p.G399W; 1:226381173-226381173

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1259C>T; p.T420M; 1:226381109-226381109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1623C>T; p.H541H; 1:226379264-226379264

 skinmalignant_melanomaSubstitution - coding silent

c.2503G>A; p.D835N; 1:226365956-226365956

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2684T>C; p.I895T; 1:226364045-226364045

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1967C>T; p.T656I; 1:226374329-226374329

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1893C>T; p.F631F; 1:226377156-226377156

 skinmalignant_melanomaSubstitution - coding silent

c.713T>C; p.L238P; 1:226388660-226388660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2831G>A; p.G944D; 1:226363116-226363116

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1883C>A; p.S628Y; 1:226377166-226377166

 kidneyother; neoplasmSubstitution - Missense

c.76G>C; p.E26Q; 1:226407854-226407854

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2586C>T; p.H862H; 1:226365074-226365074

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1614A>T; p.G538G; 1:226379273-226379273

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.597C>T; p.L199L; 1:226390430-226390430

 skinmalignant_melanomaSubstitution - coding silent

c.1614A>T; p.G538G; 1:226379273-226379273

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2423C>G; p.S808C; 1:226366036-226366036

 central_nervous_system; braingliomaSubstitution - Missense

c.1076_1077insC; p.E360fs*29; 1:226383118-226383119

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1541A>G; p.E514G; 1:226379924-226379924

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1845G>A; p.M615I; 1:226377204-226377204

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2249C>T; p.P750L; 1:226368227-226368227

 pancreascarcinomaSubstitution - Missense

c.1845G>A; p.M615I; 1:226377204-226377204

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1389C>T; p.S463S; 1:226380076-226380076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2258A>G; p.N753S; 1:226368218-226368218

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1106C>T; p.P369L; 1:226383089-226383089

 breastcarcinomaSubstitution - Missense

c.1771C>A; p.R591S; 1:226377278-226377278

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1023A>G; p.E341E; 1:226383172-226383172

 prostatecarcinomaSubstitution - coding silent

c.834+1G>A; p.?; 1:226386325-226386325

 skin; trunkmalignant_melanomaUnknown

c.897G>T; p.S299S; 1:226385618-226385618

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - coding silent

c.844C>T; p.R282*; 1:226385671-226385671

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1772G>A; p.R591H; 1:226377277-226377277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2088G>A; p.M696I; 1:226370500-226370500

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2872C>T; p.P958S; 1:226362060-226362060

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1783G>T; p.V595L; 1:226377266-226377266

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2214C>T; p.T738T; 1:226368262-226368262

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2563C>A; p.H855N; 1:226365097-226365097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.438G>A; p.P146P; 1:226390589-226390589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2663G>A; p.G888D; 1:226364066-226364066

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.630C>T; p.G210G; 1:226388743-226388743

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.630C>T; p.G210G; 1:226388743-226388743

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1843A>G; p.M615V; 1:226377206-226377206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1843A>G; p.M615V; 1:226377206-226377206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1843A>G; p.M615V; 1:226377206-226377206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2901A>C; p.V967V; 1:226362031-226362031

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2920G>A; p.G974R; 1:226362012-226362012

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1675C>A; p.L559M; 1:226379212-226379212

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.803A>G; p.N268S; 1:226386357-226386357

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2276A>C; p.Q759P; 1:226368200-226368200

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.940G>A; p.D314N; 1:226385575-226385575

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.243C>T; p.D81D; 1:226402257-226402257

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.312C>A; p.S104R; 1:226392289-226392289

 breastcarcinomaSubstitution - Missense

c.3035C>T; p.S1012F; 1:226361470-226361470

 skinmalignant_melanomaSubstitution - Missense

c.2738delG; p.G913fs*4; 1:226363991-226363991

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.2738delG; p.G913fs*4; 1:226363991-226363991

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1832T>C; p.I611T; 1:226377217-226377217

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.2226C>T; p.H742H; 1:226368250-226368250

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.601G>T; p.G201*; 1:226390426-226390426

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2433C>T; p.A811A; 1:226366026-226366026

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.2433C>T; p.A811A; 1:226366026-226366026

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.2695G>T; p.D899Y; 1:226364034-226364034

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.787G>A; p.E263K; 1:226386373-226386373

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1501G>A; p.A501T; 1:226379964-226379964

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2332C>T; p.L778F; 1:226367554-226367554

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1447delG; p.A483fs*3; 1:226380018-226380018

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.645A>C; p.G215G; 1:226388728-226388728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1604C>A; p.P535H; 1:226379581-226379581

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1265C>T; p.T422M; 1:226381103-226381103

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1975C>T; p.P659S; 1:226374321-226374321

 skinmalignant_melanomaSubstitution - Missense

c.2458A>G; p.N820D; 1:226366001-226366001

 central_nervous_system; braingliomaSubstitution - Missense

c.2155-1G>T; p.?; 1:226368322-226368322

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2203C>T; p.R735C; 1:226368273-226368273

 skinmalignant_melanomaSubstitution - Missense

c.2570G>A; p.R857Q; 1:226365090-226365090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.852T>C; p.A284A; 1:226385663-226385663

 thyroidother; neoplasmSubstitution - coding silent

c.2730G>A; p.T910T; 1:226363999-226363999

 prostatecarcinomaSubstitution - coding silent

c.2808A>G; p.S936S; 1:226363139-226363139

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1843A>T; p.M615L; 1:226377206-226377206

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1844T>C; p.M615T; 1:226377205-226377205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1055A>G; p.K352R; 1:226383140-226383140

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1844T>C; p.M615T; 1:226377205-226377205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1788C>T; p.I596I; 1:226377261-226377261

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.918C>T; p.S306S; 1:226385597-226385597

 breastcarcinomaSubstitution - coding silent

c.918C>T; p.S306S; 1:226385597-226385597

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2645C>T; p.P882L; 1:226365015-226365015

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.3023A>G; p.N1008S; 1:226361482-226361482

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.S299S; 1:226385618-226385618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.242A>G; p.D81G; 1:226402258-226402258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2285T>C; p.V762A; 1:226367601-226367601

 thyroidother; neoplasmSubstitution - Missense

c.2285T>C; p.V762A; 1:226367601-226367601

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1251delG; p.K418fs*2; 1:226381117-226381117

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3021C>T; p.F1007F; 1:226361484-226361484

 skinmalignant_melanomaSubstitution - coding silent

c.2067T>C; p.Y689Y; 1:226374229-226374229

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2814C>T; p.I938I; 1:226363133-226363133

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1463A>T; p.E488V; 1:226380002-226380002

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1092C>T; p.S364S; 1:226383103-226383103

 skinmalignant_melanomaSubstitution - coding silent

c.402G>T; p.K134N; 1:226392199-226392199

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1064G>A; p.R355H; 1:226383131-226383131

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3037C>T; p.L1013L; 1:226361468-226361468

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2539C>T; p.R847C; 1:226365121-226365121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1494G>A; p.K498K; 1:226379971-226379971

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1019G>A; p.R340Q; 1:226383176-226383176

 pancreascarcinomaSubstitution - Missense

c.2685C>T; p.I895I; 1:226364044-226364044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2817C>T; p.S939S; 1:226363130-226363130

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2410G>T; p.V804F; 1:226366049-226366049

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1804G>C; p.E602Q; 1:226377245-226377245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1804G>C; p.E602Q; 1:226377245-226377245

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.639G>A; p.V213V; 1:226388734-226388734

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1531G>A; p.V511I; 1:226379934-226379934

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2439C>T; p.I813I; 1:226366020-226366020

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1093G>A; p.V365M; 1:226383102-226383102

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.282G>T; p.V94V; 1:226402218-226402218

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1056A>G; p.K352K; 1:226383139-226383139

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1056A>G; p.K352K; 1:226383139-226383139

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1056A>G; p.K352K; 1:226383139-226383139

 thyroidother; neoplasmSubstitution - coding silent

c.2632C>T; p.R878W; 1:226365028-226365028

 pancreascarcinomaSubstitution - Missense

c.1301-1G>C; p.?; 1:226380165-226380165

 urinary_tract; bladdercarcinomaUnknown

c.1223T>G; p.V408G; 1:226381145-226381145

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.943G>A; p.V315I; 1:226385572-226385572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1042T>G; p.L348V; 1:226383153-226383153

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2054C>T; p.A685V; 1:226374242-226374242

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.919G>A; p.D307N; 1:226385596-226385596

 breastcarcinomaSubstitution - Missense

c.501G>A; p.R167R; 1:226390526-226390526

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1678G>C; p.V560L; 1:226379209-226379209

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1678G>A; p.V560M; 1:226379209-226379209

 skinmalignant_melanomaSubstitution - Missense

c.1916A>G; p.Y639C; 1:226377133-226377133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2856C>T; p.G952G; 1:226362076-226362076

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.881C>T; p.P294L; 1:226385634-226385634

 skin; upper_backmalignant_melanomaSubstitution - Missense

c.1838A>G; p.H613R; 1:226377211-226377211

 skinmalignant_melanomaSubstitution - Missense

c.2589G>C; p.G863G; 1:226365071-226365071

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2431G>A; p.A811T; 1:226366028-226366028

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.882C>T; p.P294P; 1:226385633-226385633

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.659C>T; p.A220V; 1:226388714-226388714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.P370P; 1:226383085-226383085

 livercarcinomaSubstitution - coding silent

c.1555T>G; p.S519A; 1:226379630-226379630

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.P370P; 1:226383085-226383085

 livercarcinomaSubstitution - coding silent

c.946A>G; p.T316A; 1:226385569-226385569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2590T>G; p.S864A; 1:226365070-226365070

 thyroidother; neoplasmSubstitution - Missense

c.177G>T; p.K59N; 1:226402323-226402323

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1419C>A; p.F473L; 1:226380046-226380046

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.177G>T; p.K59N; 1:226402323-226402323

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2842G>A; p.V948I; 1:226363105-226363105

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1668C>T; p.T556T; 1:226379219-226379219

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1668C>T; p.T556T; 1:226379219-226379219

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.660G>A; p.A220A; 1:226388713-226388713

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2370C>T; p.I790I; 1:226367516-226367516

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1092C>A; p.S364S; 1:226383103-226383103

 skinmalignant_melanomaSubstitution - coding silent

c.530G>A; p.S177N; 1:226390497-226390497

 livercarcinomaSubstitution - Missense

c.530G>A; p.S177N; 1:226390497-226390497

 livercarcinomaSubstitution - Missense

c.2642C>T; p.P881L; 1:226365018-226365018

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1895C>T; p.T632M; 1:226377154-226377154

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2683A>G; p.I895V; 1:226364046-226364046

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.663G>T; p.K221N; 1:226388710-226388710

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1895C>T; p.T632M; 1:226377154-226377154

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1817C>T; p.S606F; 1:226377232-226377232

 skinmalignant_melanomaSubstitution - Missense

c.1703C>T; p.S568F; 1:226379184-226379184

 skinmalignant_melanomaSubstitution - Missense

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