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

Basic Information

Gene ID

8821

Name

INPP4B

Synonymous

inositol polyphosphate-4-phosphatase, type II, 105kDa;INPP4B;inositol polyphosphate-4-phosphatase, type II, 105kDa

Definition

inositol polyphosphate 4-phosphatase II; 4-phosphatase II|inositol polyphosphate 4-phosphatase type II|inositol polyphosphate-4-phosphatase, type II, 105kD|type II inositol 3,4-bisphosphate 4-phosphatase|type II inositol-3,4-bisphosphate 4-phosphatase

Position

4q31.21

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 0.16.

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.1399A>T; p.R467W; 4:142160522-142160522

thyroidother; neoplasmSubstitution - Missense

c.2370T>C; p.P790P; 4:142108097-142108097

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.89C>T; p.T30I; 4:142431171-142431171

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.968-1G>T; p.?; 4:142208530-142208530

lungcarcinoma; adenocarcinomaUnknown

c.1619A>G; p.D540G; 4:142145941-142145941

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1386G>A; p.K462K; 4:142160535-142160535

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.658G>A; p.G220R; 4:142260522-142260522

breastcarcinomaSubstitution - Missense

c.1167A>C; p.E389D; 4:142193101-142193101

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2549C>T; p.S850L; 4:142082124-142082124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1522G>A; p.D508N; 4:142160399-142160399

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1839C>A; p.S613R; 4:142124642-142124642

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1570G>A; p.V524M; 4:142145990-142145990

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2357A>G; p.E786G; 4:142108110-142108110

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2357A>G; p.E786G; 4:142108110-142108110

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.30A>G; p.E10E; 4:142431230-142431230

skinmalignant_melanomaSubstitution - coding silent

c.407C>T; p.P136L; 4:142314728-142314728

skinmalignant_melanomaSubstitution - Missense

c.407C>T; p.P136L; 4:142314728-142314728

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1675G>A; p.E559K; 4:142145885-142145885

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2648G>T; p.G883V; 4:142028909-142028909

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2276G>A; p.R759K; 4:142112542-142112542

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2746G>C; p.E916Q; 4:142028811-142028811

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1187delG; p.G396fs*29; 4:142173804-142173804

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.2726C>A; p.P909H; 4:142028831-142028831

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2146G>A; p.V716M; 4:142112672-142112672

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2453_2454insA; p.N820fs*24; 4:142086177-142086178

skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.2427C>A; p.L809L; 4:142086204-142086204

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2238T>C; p.F746F; 4:142112580-142112580

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2621G>T; p.R874L; 4:142082052-142082052

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.744G>A; p.W248*; 4:142237956-142237956

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.438C>T; p.G146G; 4:142305523-142305523

breastcarcinomaSubstitution - coding silent

c.692T>C; p.L231S; 4:142238008-142238008

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1820T>C; p.L607P; 4:142124661-142124661

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1203C>A; p.Y401*; 4:142173788-142173788

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.353A>T; p.K118M; 4:142402957-142402957

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1332G>C; p.K444N; 4:142173659-142173659

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1332G>C; p.K444N; 4:142173659-142173659

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2268G>A; p.L756L; 4:142112550-142112550

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1302T>C; p.S434S; 4:142173689-142173689

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2487+8C>A; p.?; 4:142086136-142086136

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedUnknown

c.388C>T; p.L130L; 4:142314747-142314747

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.743_744GG>CA; p.W248S; 4:142237956-142237957

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2218C>T; p.H740Y; 4:142112600-142112600

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1643G>T; p.G548V; 4:142145917-142145917

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1303G>T; p.A435S; 4:142173688-142173688

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1054C>T; p.H352Y; 4:142208443-142208443

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2060C>T; p.S687F; 4:142122203-142122203

livercarcinomaSubstitution - Missense

c.2060C>T; p.S687F; 4:142122203-142122203

livercarcinomaSubstitution - Missense

c.1056C>T; p.H352H; 4:142208441-142208441

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.689-2A>G; p.?; 4:142238013-142238013

lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.1394T>C; p.L465P; 4:142160527-142160527

thyroidother; neoplasmSubstitution - Missense

c.869C>A; p.S290Y; 4:142208994-142208994

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1949C>A; p.P650Q; 4:142123360-142123360

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.748C>T; p.R250*; 4:142237952-142237952

livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.748C>T; p.R250*; 4:142237952-142237952

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.748C>T; p.R250*; 4:142237952-142237952

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.582C>T; p.A194A; 4:142270696-142270696

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.748C>T; p.R250*; 4:142237952-142237952

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.178A>C; p.N60H; 4:142405283-142405283

ovaryother; neoplasmSubstitution - Missense

c.972C>T; p.S324S; 4:142208525-142208525

skinmalignant_melanomaSubstitution - coding silent

c.366T>C; p.H122H; 4:142402944-142402944

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.178A>C; p.N60H; 4:142405283-142405283

ovaryother; neoplasmSubstitution - Missense

c.1395T>G; p.L465L; 4:142160526-142160526

thyroidother; neoplasmSubstitution - coding silent

c.23C>T; p.A8V; 4:142431237-142431237

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2689A>C; p.K897Q; 4:142028868-142028868

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2322C>T; p.F774F; 4:142108145-142108145

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2322C>T; p.F774F; 4:142108145-142108145

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1980G>T; p.G660G; 4:142123329-142123329

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.76G>C; p.D26H; 4:142431184-142431184

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1066T>A; p.L356M; 4:142208431-142208431

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2495G>A; p.R832H; 4:142082178-142082178

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.991A>T; p.S331C; 4:142208506-142208506

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1332G>T; p.K444N; 4:142173659-142173659

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1661G>A; p.G554D; 4:142145899-142145899

breastcarcinomaSubstitution - Missense

c.2464G>A; p.E822K; 4:142086167-142086167

urinary_tract; bladdercarcinomaSubstitution - Missense

c.558G>T; p.M186I; 4:142270720-142270720

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1127T>A; p.F376Y; 4:142193141-142193141

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1616T>C; p.V539A; 4:142145944-142145944

pancreascarcinomaSubstitution - Missense

c.1616T>C; p.V539A; 4:142145944-142145944

pancreascarcinomaSubstitution - Missense

c.1616T>C; p.V539A; 4:142145944-142145944

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1616T>C; p.V539A; 4:142145944-142145944

pancreascarcinomaSubstitution - Missense

c.469A>G; p.K157E; 4:142305492-142305492

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.890G>A; p.R297Q; 4:142208973-142208973

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1688C>A; p.S563*; 4:142145872-142145872

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.643C>A; p.P215T; 4:142260537-142260537

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1145G>A; p.R382Q; 4:142193123-142193123

breastcarcinomaSubstitution - Missense

c.2587_2588delGA; p.D863fs*1; 4:142082085-142082086

livercarcinomaDeletion - Frameshift

c.2576C>G; p.S859*; 4:142082097-142082097

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2419G>T; p.E807*; 4:142086212-142086212

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2015A>G; p.Y672C; 4:142123294-142123294

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1061C>T; p.P354L; 4:142208436-142208436

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2188C>A; p.P730T; 4:142112630-142112630

kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1541C>T; p.S514L; 4:142160380-142160380

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.616-1G>A; p.?; 4:142260565-142260565

breastcarcinomaUnknown

c.650G>T; p.S217I; 4:142260530-142260530

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2375-10T>C; p.?; 4:142086266-142086266

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.853G>T; p.E285*; 4:142209010-142209010

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1098G>A; p.V366V; 4:142193170-142193170

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.853G>T; p.E285*; 4:142209010-142209010

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.447T>C; p.S149S; 4:142305514-142305514

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1833G>A; p.A611A; 4:142124648-142124648

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.417A>C; p.E139D; 4:142314718-142314718

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.968G>T; p.G323V; 4:142208529-142208529

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2323G>A; p.E775K; 4:142108144-142108144

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2488-1G>C; p.?; 4:142082186-142082186

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1083C>T; p.Y361Y; 4:142193185-142193185

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2323G>A; p.E775K; 4:142108144-142108144

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1039C>G; p.Q347E; 4:142208458-142208458

breastcarcinomaSubstitution - Missense

c.1789C>T; p.R597*; 4:142124692-142124692

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.2323G>A; p.E775K; 4:142108144-142108144

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1745C>T; p.P582L; 4:142124736-142124736

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.643C>T; p.P215S; 4:142260537-142260537

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.P39S; 4:142429194-142429194

lungcarcinoma; mixed_small_cell_carcinoma-adenocarcinomaSubstitution - Missense

c.2550G>A; p.S850S; 4:142082123-142082123

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2363T>A; p.M788K; 4:142108104-142108104

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1376A>T; p.H459L; 4:142160545-142160545

prostatecarcinomaSubstitution - Missense

c.2550G>A; p.S850S; 4:142082123-142082123

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1884C>T; p.F628F; 4:142124597-142124597

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.882delC; p.D294fs*15; 4:142208981-142208981

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.2652C>A; p.C884*; 4:142028905-142028905

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.34G>A; p.G12R; 4:142431226-142431226

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.583G>A; p.D195N; 4:142270695-142270695

central_nervous_system; braingliomaSubstitution - Missense

c.1227A>C; p.K409N; 4:142173764-142173764

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1630G>A; p.E544K; 4:142145930-142145930

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2452_2453insA; p.R818fs*26; 4:142086178-142086179

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.310A>G; p.I104V; 4:142403000-142403000

livercarcinomaSubstitution - Missense

c.310A>G; p.I104V; 4:142403000-142403000

livercarcinomaSubstitution - Missense

c.310A>G; p.I104V; 4:142403000-142403000

livercarcinomaSubstitution - Missense

c.310A>G; p.I104V; 4:142403000-142403000

livercarcinomaSubstitution - Missense

c.1137T>C; p.G379G; 4:142193131-142193131

livercarcinomaSubstitution - coding silent

c.1137T>C; p.G379G; 4:142193131-142193131

livercarcinomaSubstitution - coding silent

c.1782G>A; p.V594V; 4:142124699-142124699

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.415G>A; p.E139K; 4:142314720-142314720

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1714C>T; p.P572S; 4:142145846-142145846

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1069A>T; p.K357*; 4:142208428-142208428

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2637G>A; p.M879I; 4:142082036-142082036

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1471A>G; p.S491G; 4:142160450-142160450

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2380T>C; p.S794P; 4:142086251-142086251

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1587_1588insG; p.K530fs*15; 4:142145972-142145973

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.548T>C; p.V183A; 4:142270730-142270730

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.660A>C; p.G220G; 4:142260520-142260520

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1270A>C; p.I424L; 4:142173721-142173721

breastcarcinomaSubstitution - Missense

c.1396G>A; p.V466I; 4:142160525-142160525

thyroidother; neoplasmSubstitution - Missense

c.2425C>A; p.L809I; 4:142086206-142086206

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2425C>A; p.L809I; 4:142086206-142086206

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1687T>C; p.S563P; 4:142145873-142145873

livercarcinomaSubstitution - Missense

c.376C>T; p.R126*; 4:142314759-142314759

skinmalignant_melanomaSubstitution - Nonsense

c.743G>C; p.W248S; 4:142237957-142237957

urinary_tract; bladdercarcinomaSubstitution - Missense

c.641C>A; p.A214D; 4:142260539-142260539

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2696C>T; p.A899V; 4:142028861-142028861

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2696C>T; p.A899V; 4:142028861-142028861

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2743C>T; p.P915S; 4:142028814-142028814

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>T; p.I364I; 4:142193176-142193176

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.730T>C; p.S244P; 4:142237970-142237970

livercarcinomaSubstitution - Missense

c.225G>A; p.L75L; 4:142405236-142405236

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1475C>T; p.T492I; 4:142160446-142160446

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2172A>C; p.R724S; 4:142112646-142112646

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2329C>G; p.L777V; 4:142108138-142108138

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205A>G; p.Y402C; 4:142173786-142173786

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.133C>T; p.L45F; 4:142429176-142429176

skinmalignant_melanomaSubstitution - Missense

c.500T>C; p.L167P; 4:142305461-142305461

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2382A>G; p.S794S; 4:142086249-142086249

lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1960C>G; p.Q654E; 4:142123349-142123349

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1338T>C; p.S446S; 4:142173653-142173653

livercarcinomaSubstitution - coding silent

c.1338T>C; p.S446S; 4:142173653-142173653

livercarcinomaSubstitution - coding silent

c.1338T>C; p.S446S; 4:142173653-142173653

livercarcinomaSubstitution - coding silent

c.112G>A; p.E38K; 4:142429197-142429197

skinmalignant_melanomaSubstitution - Missense

c.347A>G; p.D116G; 4:142402963-142402963

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2355G>T; p.M785I; 4:142108112-142108112

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1290A>G; p.L430L; 4:142173701-142173701

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.340G>T; p.V114F; 4:142402970-142402970

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1964A>T; p.Q655L; 4:142123345-142123345

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.714A>T; p.L238F; 4:142237986-142237986

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1316C>T; p.S439F; 4:142173675-142173675

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.2654G>A; p.R885H; 4:142028903-142028903

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2654G>A; p.R885H; 4:142028903-142028903

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1526C>T; p.S509F; 4:142160395-142160395

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.315T>C; p.Y105Y; 4:142402995-142402995

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2102C>A; p.S701Y; 4:142122161-142122161

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1764G>T; p.K588N; 4:142124717-142124717

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2062G>T; p.D688Y; 4:142122201-142122201

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1902A>G; p.G634G; 4:142123407-142123407

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1296T>C; p.L432L; 4:142173695-142173695

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.377G>A; p.R126Q; 4:142314758-142314758

breastcarcinomaSubstitution - Missense

c.1643G>A; p.G548D; 4:142145917-142145917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1361C>G; p.T454R; 4:142160560-142160560

livercarcinomaSubstitution - Missense

c.1361C>G; p.T454R; 4:142160560-142160560

livercarcinomaSubstitution - Missense

c.1361C>G; p.T454R; 4:142160560-142160560

livercarcinomaSubstitution - Missense

c.1361C>G; p.T454R; 4:142160560-142160560

livercarcinomaSubstitution - Missense

c.1806G>C; p.L602L; 4:142124675-142124675

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.889C>T; p.R297*; 4:142208974-142208974

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1046T>C; p.M349T; 4:142208451-142208451

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.619G>T; p.A207S; 4:142260561-142260561

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.377G>C; p.R126P; 4:142314758-142314758

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.P53S; 4:142405304-142405304

skin; trunkmalignant_melanomaSubstitution - Missense

c.1509G>A; p.V503V; 4:142160412-142160412

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2019C>T; p.S673S; 4:142122244-142122244

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1548T>C; p.Y516Y; 4:142160373-142160373

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1203C>T; p.Y401Y; 4:142173788-142173788

central_nervous_system; braingliomaSubstitution - coding silent

c.55G>A; p.A19T; 4:142431205-142431205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.55G>A; p.A19T; 4:142431205-142431205

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1972A>T; p.T658S; 4:142123337-142123337

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2456A>T; p.K819M; 4:142086175-142086175

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.244G>A; p.E82K; 4:142405217-142405217

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.713T>G; p.L238*; 4:142237987-142237987

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2076T>C; p.V692V; 4:142122187-142122187

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.116C>A; p.P39Q; 4:142429193-142429193

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1186G>A; p.G396R; 4:142173805-142173805

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1584_1585insT; p.G529fs*16; 4:142145975-142145976

lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.2155G>T; p.V719F; 4:142112663-142112663

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.D123D; 4:142402941-142402941

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.369C>T; p.D123D; 4:142402941-142402941

thyroidother; neoplasmSubstitution - coding silent

c.2077G>A; p.A693T; 4:142122186-142122186

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.893A>C; p.K298T; 4:142208970-142208970

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2457G>C; p.K819N; 4:142086174-142086174

breastcarcinomaSubstitution - Missense

c.2020G>T; p.D674Y; 4:142122243-142122243

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.20G>T; p.G7V; 4:142431240-142431240

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.671T>C; p.L224S; 4:142260509-142260509

thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.749G>A; p.R250Q; 4:142237951-142237951

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1141C>T; p.L381F; 4:142193127-142193127

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.749G>A; p.R250Q; 4:142237951-142237951

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense


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