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

Basic Information

Gene ID

164656

Name

TMPRSS6

Synonymous

transmembrane protease, serine 6;TMPRSS6;transmembrane protease, serine 6

Definition

matriptase-2|membrane-bound mosaic serine proteinase matriptase-2|transmembrane protease serine 6|type II transmembrane serine protease 6

Position

22q12.3

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 0.14.

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.1640C>T; p.P547L; 22:37070975-37070975

skinmalignant_melanomaSubstitution - Missense

c.92C>T; p.A31V; 22:37103353-37103353

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1570C>T; p.Q524*; 22:37073544-37073544

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1387C>A; p.L463I; 22:37074691-37074691

breastcarcinomaSubstitution - Missense

c.777C>A; p.L259L; 22:37089664-37089664

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.297C>A; p.F99L; 22:37098482-37098482

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1270G>T; p.V424L; 22:37075234-37075234

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.880C>T; p.R294C; 22:37086403-37086403

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1237C>T; p.R413C; 22:37075267-37075267

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1605C>T; p.T535T; 22:37071010-37071010

skinmalignant_melanomaSubstitution - coding silent

c.1437C>T; p.D479D; 22:37074641-37074641

skin; armmalignant_melanomaSubstitution - coding silent

c.2073G>A; p.A691A; 22:37069140-37069140

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.729C>T; p.S243S; 22:37089712-37089712

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.67G>A; p.G23R; 22:37103378-37103378

skinmalignant_melanomaSubstitution - Missense

c.432G>A; p.G144G; 22:37096090-37096090

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.446C>A; p.T149N; 22:37096076-37096076

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2092C>A; p.P698T; 22:37069121-37069121

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2259C>T; p.G753G; 22:37066844-37066844

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2096G>A; p.G699D; 22:37069117-37069117

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2425G>C; p.V809L; 22:37066091-37066091

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.735C>T; p.C245C; 22:37089706-37089706

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.97C>T; p.P33S; 22:37103348-37103348

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.146G>A; p.G49D; 22:37103299-37103299

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

thyroidother; neoplasmSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

thyroidother; neoplasmSubstitution - Missense

c.1571A>C; p.Q524P; 22:37073543-37073543

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

thyroidother; neoplasmSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1394C>A; p.S465Y; 22:37074684-37074684

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.120T>C; p.C40C; 22:37103325-37103325

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.936G>A; p.W312*; 22:37086347-37086347

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2205G>A; p.E735E; 22:37066898-37066898

skinmalignant_melanomaSubstitution - coding silent

c.96G>T; p.E32D; 22:37103349-37103349

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2231G>T; p.R744L; 22:37066872-37066872

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2335G>C; p.G779R; 22:37066181-37066181

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1708C>A; p.L570I; 22:37070644-37070644

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.686_697del12; p.Q229_V232delQGQV; 22:37089744-37089755

lungcarcinoma; adenocarcinomaDeletion - In frame

c.1490G>T; p.C497F; 22:37073624-37073624

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.G25R; 22:37103372-37103372

pancreascarcinomaSubstitution - Missense

c.334C>T; p.R112C; 22:37098445-37098445

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.G25R; 22:37103372-37103372

pancreascarcinomaSubstitution - Missense

c.568C>T; p.P190S; 22:37095954-37095954

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1460G>A; p.R487K; 22:37074618-37074618

skinmalignant_melanomaSubstitution - Missense

c.1692G>A; p.E564E; 22:37070923-37070923

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2207T>C; p.V736A; 22:37066896-37066896

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.347C>A; p.A116D; 22:37098432-37098432

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.47C>T; p.P16L; 22:37103398-37103398

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1169G>A; p.R390K; 22:37084349-37084349

skinmalignant_melanomaSubstitution - Missense

c.289C>T; p.R97C; 22:37098490-37098490

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1981G>C; p.E661Q; 22:37069232-37069232

urinary_tract; bladdercarcinomaSubstitution - Missense

c.456C>T; p.F152F; 22:37096066-37096066

breastcarcinomaSubstitution - coding silent

c.1280C>A; p.T427K; 22:37075224-37075224

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1439G>T; p.C480F; 22:37074639-37074639

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.673A>G; p.S225G; 22:37089768-37089768

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1940T>G; p.V647G; 22:37069273-37069273

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2428G>C; p.V810L; 22:37066088-37066088

bone; femurchondrosarcomaSubstitution - Missense

c.1636A>G; p.K546E; 22:37070979-37070979

skinmalignant_melanomaSubstitution - Missense

c.44C>T; p.A15V; 22:37103401-37103401

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.187C>T; p.L63F; 22:37103258-37103258

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960C>T; p.Y320Y; 22:37086323-37086323

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.960C>T; p.Y320Y; 22:37086323-37086323

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1182T>A; p.D394E; 22:37084336-37084336

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.505G>T; p.E169*; 22:37096017-37096017

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.2230C>T; p.R744C; 22:37066873-37066873

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.835G>A; p.G279R; 22:37089606-37089606

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1813delG; p.A605fs*8; 22:37070539-37070539

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063T>C; p.Y355H; 22:37084777-37084777

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.926C>T; p.A309V; 22:37086357-37086357

breastcarcinomaSubstitution - Missense

c.602G>A; p.G201D; 22:37095920-37095920

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1486C>T; p.Q496*; 22:37073628-37073628

skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1981G>A; p.E661K; 22:37069232-37069232

skinmalignant_melanomaSubstitution - Missense

c.567C>A; p.V189V; 22:37095955-37095955

skinmalignant_melanomaSubstitution - coding silent

c.565G>A; p.V189I; 22:37095957-37095957

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1588C>T; p.P530S; 22:37071027-37071027

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2232C>T; p.R744R; 22:37066871-37066871

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.597C>T; p.P199P; 22:37095925-37095925

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2232C>T; p.R744R; 22:37066871-37066871

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.475C>T; p.P159S; 22:37096047-37096047

skinmalignant_melanomaSubstitution - Missense

c.865G>A; p.V289M; 22:37086418-37086418

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235A>G; p.K79E; 22:37098544-37098544

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1568A>T; p.E523V; 22:37073546-37073546

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.395G>T; p.G132V; 22:37096684-37096684

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.585C>T; p.Y195Y; 22:37095937-37095937

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1482A>G; p.T494T; 22:37073632-37073632

pancreascarcinomaSubstitution - coding silent

c.1482A>G; p.T494T; 22:37073632-37073632

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.278G>A; p.R93H; 22:37098501-37098501

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.674G>A; p.S225N; 22:37089767-37089767

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1567G>C; p.E523Q; 22:37073547-37073547

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1534G>T; p.G512W; 22:37073580-37073580

large_intestine; colonNSSubstitution - Missense

c.1284C>T; p.A428A; 22:37075220-37075220

central_nervous_system; braingliomaSubstitution - coding silent

c.1387C>T; p.L463F; 22:37074691-37074691

skinmalignant_melanomaSubstitution - Missense

c.2190G>T; p.Q730H; 22:37066913-37066913

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1502G>A; p.S501N; 22:37073612-37073612

prostatecarcinomaSubstitution - Missense

c.1961_1962insC; p.L655fs*12; 22:37069251-37069252

lungcarcinoid-endocrine_tumour; typicalInsertion - Frameshift

c.658+2T>C; p.?; 22:37095549-37095549

breastcarcinomaUnknown

c.355C>T; p.Q119*; 22:37098424-37098424

skinmalignant_melanomaSubstitution - Nonsense

c.1092C>T; p.T364T; 22:37084748-37084748

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.38_39CC>TT; p.A13V; 22:37103406-37103407

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200C>T; p.S67L; 22:37103245-37103245

skinmalignant_melanomaSubstitution - Missense

c.1254C>T; p.Y418Y; 22:37075250-37075250

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.930C>T; p.V310V; 22:37086353-37086353

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1254C>T; p.Y418Y; 22:37075250-37075250

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.432-1G>A; p.?; 22:37096091-37096091

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.200C>T; p.S67L; 22:37103245-37103245

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.D521N; 22:37073553-37073553

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.D521N; 22:37073553-37073553

skinmalignant_melanomaSubstitution - Missense

c.44_45insC; p.Q17fs*11; 22:37103400-37103401

breastcarcinomaInsertion - Frameshift

c.1286_1287insGA; p.I430fs*38; 22:37075217-37075218

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellInsertion - Frameshift

c.2353C>T; p.L785L; 22:37066163-37066163

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.96G>A; p.E32E; 22:37103349-37103349

skinmalignant_melanomaSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.96G>A; p.E32E; 22:37103349-37103349

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.84C>A; p.G28G; 22:37103361-37103361

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1478C>G; p.A493G; 22:37073636-37073636

central_nervous_system; braingliomaSubstitution - Missense

c.1965C>G; p.L655L; 22:37069248-37069248

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

thyroidother; neoplasmSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2047G>A; p.A683T; 22:37069166-37069166

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.340G>A; p.E114K; 22:37098439-37098439

skinmalignant_melanomaSubstitution - Missense

c.2420A>G; p.Q807R; 22:37066096-37066096

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.229+7T>G; p.?; 22:37103209-37103209

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.95A>G; p.E32G; 22:37103350-37103350

thyroidother; neoplasmSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

livercarcinomaSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

livercarcinomaSubstitution - Missense

c.2121G>A; p.W707*; 22:37069092-37069092

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2366G>A; p.R789Q; 22:37066150-37066150

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1751C>T; p.S584F; 22:37070601-37070601

bone; humerusEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.977C>T; p.S326F; 22:37086306-37086306

breastcarcinomaSubstitution - Missense

c.1795C>T; p.R599*; 22:37070557-37070557

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.586G>A; p.E196K; 22:37095936-37095936

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1978C>T; p.H660Y; 22:37069235-37069235

skinmalignant_melanomaSubstitution - Missense

c.586G>A; p.E196K; 22:37095936-37095936

skinmalignant_melanomaSubstitution - Missense

c.1795C>T; p.R599*; 22:37070557-37070557

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.586G>A; p.E196K; 22:37095936-37095936

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1062G>A; p.P354P; 22:37084778-37084778

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1403G>A; p.G468E; 22:37074675-37074675

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.44_45insC; p.P16fs*12; 22:37103400-37103401

breastcarcinoma; ductal_carcinomaInsertion - Frameshift

c.691C>T; p.Q231*; 22:37089750-37089750

skinmalignant_melanomaSubstitution - Nonsense

c.86A>G; p.E29G; 22:37103359-37103359

thyroidother; neoplasmSubstitution - Missense

c.360G>T; p.K120N; 22:37098419-37098419

skinmalignant_melanomaSubstitution - Missense

c.1572G>C; p.Q524H; 22:37073542-37073542

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2425G>A; p.V809M; 22:37066091-37066091

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.889C>A; p.P297T; 22:37086394-37086394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1386C>T; p.F462F; 22:37074692-37074692

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2055C>T; p.R685R; 22:37069158-37069158

skinmalignant_melanomaSubstitution - coding silent

c.412A>G; p.S138G; 22:37096667-37096667

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2275C>T; p.Q759*; 22:37066828-37066828

central_nervous_system; braingliomaSubstitution - Nonsense

c.979G>A; p.V327M; 22:37086304-37086304

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.979G>A; p.V327M; 22:37086304-37086304

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.98C>T; p.P33L; 22:37103347-37103347

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.P33L; 22:37103347-37103347

thyroidother; neoplasmSubstitution - Missense

c.2293C>T; p.P765S; 22:37066223-37066223

skinmalignant_melanomaSubstitution - Missense

c.1564G>A; p.E522K; 22:37073550-37073550

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1934G>A; p.G645E; 22:37069279-37069279

skinmalignant_melanomaSubstitution - Missense

c.945C>T; p.G315G; 22:37086338-37086338

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.90A>G; p.E30E; 22:37103355-37103355

thyroidother; neoplasmSubstitution - coding silent

c.675C>A; p.S225R; 22:37089766-37089766

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellComplex

c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellComplex

c.45C>T; p.A15A; 22:37103400-37103400

soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.667C>T; p.R223C; 22:37089774-37089774

skinmalignant_melanomaSubstitution - Missense

c.2326T>C; p.F776L; 22:37066190-37066190

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.437delG; p.G146fs*19; 22:37096085-37096085

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.943G>A; p.G315S; 22:37086340-37086340

skinmalignant_melanomaSubstitution - Missense

c.221A>T; p.Y74F; 22:37103224-37103224

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1554C>T; p.N518N; 22:37073560-37073560

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2191G>A; p.D731N; 22:37066912-37066912

skinmalignant_melanomaSubstitution - Missense

c.97C>G; p.P33A; 22:37103348-37103348

autonomic_ganglianeuroblastomaSubstitution - Missense

c.100G>T; p.E34*; 22:37103345-37103345

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1467C>T; p.C489C; 22:37074611-37074611

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.154C>T; p.R52C; 22:37103291-37103291

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1467C>T; p.C489C; 22:37074611-37074611

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2125G>T; p.A709S; 22:37069088-37069088

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.34G>A; p.V12M; 22:37103411-37103411

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.34G>A; p.V12M; 22:37103411-37103411

pancreascarcinomaSubstitution - Missense

c.1563C>T; p.D521D; 22:37073551-37073551

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1563C>T; p.D521D; 22:37073551-37073551

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.812G>C; p.R271P; 22:37089629-37089629

breastcarcinomaSubstitution - Missense

c.1440C>G; p.C480W; 22:37074638-37074638

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.142delC; p.R48fs*29; 22:37103303-37103303

skin; neckmalignant_melanomaDeletion - Frameshift

c.346G>A; p.A116T; 22:37098433-37098433

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.346G>A; p.A116T; 22:37098433-37098433

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>T; p.S361L; 22:37084758-37084758

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705G>A; p.L235L; 22:37089736-37089736

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2409C>T; p.I803I; 22:37066107-37066107

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.970G>A; p.V324M; 22:37086313-37086313

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1775C>A; p.A592D; 22:37070577-37070577

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.290G>A; p.R97H; 22:37098489-37098489

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668G>A; p.R223H; 22:37089773-37089773

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1163T>C; p.L388P; 22:37084355-37084355

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1720T>C; p.S574P; 22:37070632-37070632

thyroidother; neoplasmSubstitution - Missense

c.668G>A; p.R223H; 22:37089773-37089773

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.640G>T; p.A214S; 22:37095569-37095569

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1417G>T; p.A473S; 22:37074661-37074661

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

breastcarcinomaUnknown

c.1551C>A; p.L517L; 22:37073563-37073563

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

breastcarcinomaUnknown

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

breastcarcinomaUnknown

c.887A>T; p.E296V; 22:37086396-37086396

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense


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