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

Basic Information

Gene ID

23347

Name

SMCHD1

Synonymous

structural maintenance of chromosomes flexible hinge domain containing 1;SMCHD1;structural maintenance of chromosomes flexible hinge domain containing 1

Definition

SMC hinge domain-containing protein 1|structural maintenance of chromosomes flexible hinge domain-containing protein 1

Position

18p11.32

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 0.13.

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.1919C>G; p.S640C; 18:2740763-2740763

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3050C>T; p.S1017L; 18:2763776-2763776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2029C>T; p.P677S; 18:2743812-2743812

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.788A>C; p.K263T; 18:2718420-2718420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.44A>T; p.H15L; 18:2703744-2703744

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3050C>T; p.S1017L; 18:2763776-2763776

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.923A>G; p.D308G; 18:2722639-2722639

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1881C>T; p.Y627Y; 18:2740725-2740725

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.13_14delAG; p.E6fs*10; 18:2703713-2703714

 breastcarcinoma; ductal_carcinomaDeletion - Frameshift

c.2428C>A; p.L810I; 18:2750426-2750426

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2077A>G; p.I693V; 18:2743860-2743860

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.824C>T; p.S275L; 18:2722540-2722540

 skinmalignant_melanomaSubstitution - Missense

c.1852G>A; p.E618K; 18:2739514-2739514

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3036C>T; p.P1012P; 18:2763762-2763762

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3746T>G; p.F1249C; 18:2777841-2777841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278G>T; p.G93V; 18:2705785-2705785

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2860C>T; p.R954C; 18:2762186-2762186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3349C>T; p.R1117*; 18:2771571-2771571

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3295C>A; p.L1099I; 18:2770093-2770093

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.379delA; p.K128fs*3; 18:2706442-2706442

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.681G>A; p.M227I; 18:2718234-2718234

 skinmalignant_melanomaSubstitution - Missense

c.3946C>T; p.R1316*; 18:2784504-2784504

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3946C>T; p.R1316*; 18:2784504-2784504

 breastcarcinomaSubstitution - Nonsense

c.3946C>T; p.R1316*; 18:2784504-2784504

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.516_517insA; p.G175fs*21; 18:2707832-2707833

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.262G>A; p.E88K; 18:2705769-2705769

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.673delA; p.M227fs*12; 18:2718226-2718226

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2242A>G; p.I748V; 18:2747618-2747618

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1431G>T; p.K477N; 18:2732303-2732303

 livercarcinomaSubstitution - Missense

c.1431G>T; p.K477N; 18:2732303-2732303

 livercarcinomaSubstitution - Missense

c.1284C>A; p.V428V; 18:2729301-2729301

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3603C>T; p.V1201V; 18:2775817-2775817

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2973C>T; p.G991G; 18:2763699-2763699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2973C>T; p.G991G; 18:2763699-2763699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.466G>A; p.V156I; 18:2707621-2707621

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.466G>A; p.V156I; 18:2707621-2707621

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.466G>A; p.V156I; 18:2707621-2707621

 kidneyother; neoplasmSubstitution - Missense

c.281G>A; p.G94E; 18:2705788-2705788

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1284C>T; p.V428V; 18:2729301-2729301

 pancreascarcinomaSubstitution - coding silent

c.2080C>T; p.R694*; 18:2743863-2743863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1430A>T; p.K477M; 18:2732302-2732302

 livercarcinomaSubstitution - Missense

c.545C>T; p.P182L; 18:2707861-2707861

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1430A>T; p.K477M; 18:2732302-2732302

 livercarcinomaSubstitution - Missense

c.20T>G; p.F7C; 18:2703720-2703720

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4015T>C; p.F1339L; 18:2784573-2784573

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3652C>T; p.R1218C; 18:2775866-2775866

 skinmalignant_melanomaSubstitution - Missense

c.643C>T; p.Q215*; 18:2718196-2718196

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.3020G>A; p.R1007K; 18:2763746-2763746

 NSNSSubstitution - Missense

c.2226G>T; p.P742P; 18:2747602-2747602

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3301G>T; p.E1101*; 18:2770099-2770099

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1092G>T; p.Q364H; 18:2726499-2726499

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2414T>C; p.I805T; 18:2750412-2750412

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3048T>A; p.G1016G; 18:2763774-2763774

 skinmalignant_melanomaSubstitution - coding silent

c.1757C>T; p.A586V; 18:2738533-2738533

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.759A>T; p.A253A; 18:2718391-2718391

 skinmalignant_melanomaSubstitution - coding silent

c.2614C>T; p.P872S; 18:2751382-2751382

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3373A>G; p.I1125V; 18:2771595-2771595

 livercarcinomaSubstitution - Missense

c.463G>C; p.E155Q; 18:2707618-2707618

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3373A>G; p.I1125V; 18:2771595-2771595

 livercarcinomaSubstitution - Missense

c.850C>T; p.R284C; 18:2722566-2722566

 skinmalignant_melanomaSubstitution - Missense

c.850C>T; p.R284C; 18:2722566-2722566

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.475G>A; p.A159T; 18:2707630-2707630

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2861G>A; p.R954H; 18:2762187-2762187

 skinmalignant_melanomaSubstitution - Missense

c.2656G>C; p.D886H; 18:2752518-2752518

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.3859A>G; p.N1287D; 18:2778207-2778207

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2679C>T; p.C893C; 18:2752541-2752541

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.187G>A; p.V63I; 18:2705694-2705694

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1073G>A; p.G358D; 18:2726480-2726480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1073G>A; p.G358D; 18:2726480-2726480

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.851G>A; p.R284H; 18:2722567-2722567

 livercarcinomaSubstitution - Missense

c.851G>A; p.R284H; 18:2722567-2722567

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.101C>T; p.P34L; 18:2703801-2703801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.851G>A; p.R284H; 18:2722567-2722567

 livercarcinomaSubstitution - Missense

c.1928C>G; p.S643*; 18:2740772-2740772

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.624G>T; p.E208D; 18:2718177-2718177

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2645A>G; p.N882S; 18:2752507-2752507

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.624G>T; p.E208D; 18:2718177-2718177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3558G>A; p.A1186A; 18:2775772-2775772

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3558G>A; p.A1186A; 18:2775772-2775772

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2994T>C; p.D998D; 18:2763720-2763720

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2459A>G; p.N820S; 18:2750457-2750457

 livercarcinomaSubstitution - Missense

c.2459A>G; p.N820S; 18:2750457-2750457

 livercarcinomaSubstitution - Missense

c.1558C>G; p.Q520E; 18:2732430-2732430

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3599T>G; p.V1200G; 18:2775813-2775813

 ovaryother; neoplasmSubstitution - Missense

c.2595G>A; p.L865L; 18:2751363-2751363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2772T>G; p.S924R; 18:2760733-2760733

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2096C>A; p.S699Y; 18:2743879-2743879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2547C>T; p.I849I; 18:2751315-2751315

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2481A>G; p.A827A; 18:2750479-2750479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2498G>C; p.G833A; 18:2750496-2750496

 breastcarcinomaSubstitution - Missense

c.249C>T; p.G83G; 18:2705756-2705756

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1325C>T; p.T442I; 18:2729342-2729342

 livercarcinomaSubstitution - Missense

c.2991T>C; p.T997T; 18:2763717-2763717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1045-1G>T; p.?; 18:2726451-2726451

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1197G>T; p.V399V; 18:2728536-2728536

 livercarcinomaSubstitution - coding silent

c.1197G>T; p.V399V; 18:2728536-2728536

 livercarcinomaSubstitution - coding silent

c.448G>C; p.E150Q; 18:2707603-2707603

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.469A>G; p.R157G; 18:2707624-2707624

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1438C>G; p.P480A; 18:2732310-2732310

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2995A>G; p.T999A; 18:2763721-2763721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1520A>G; p.N507S; 18:2732392-2732392

 breastcarcinomaSubstitution - Missense

c.2844A>G; p.P948P; 18:2762170-2762170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.630T>C; p.I210I; 18:2718183-2718183

 skinmalignant_melanomaSubstitution - coding silent

c.2282_2283CA>TT; p.S761F; 18:2750053-2750054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2710A>G; p.K904E; 18:2760671-2760671

 pancreascarcinomaSubstitution - Missense

c.1872A>G; p.T624T; 18:2740716-2740716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2447_2448CC>TT; p.P816L; 18:2750445-2750446

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2710A>G; p.K904E; 18:2760671-2760671

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1872A>G; p.T624T; 18:2740716-2740716

 kidneyother; neoplasmSubstitution - coding silent

c.655A>T; p.K219*; 18:2718208-2718208

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.2125G>T; p.D709Y; 18:2743908-2743908

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2480C>T; p.A827V; 18:2750478-2750478

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2480C>T; p.A827V; 18:2750478-2750478

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2437C>A; p.P813T; 18:2750435-2750435

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2480C>T; p.A827V; 18:2750478-2750478

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3667C>T; p.P1223S; 18:2775881-2775881

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.236T>G; p.F79C; 18:2705743-2705743

 breastcarcinomaSubstitution - Missense

c.2741T>G; p.F914C; 18:2760702-2760702

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3350G>A; p.R1117Q; 18:2771572-2771572

 pancreascarcinomaSubstitution - Missense

c.3065G>A; p.S1022N; 18:2769695-2769695

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2612G>A; p.R871Q; 18:2751380-2751380

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3470C>T; p.S1157L; 18:2772323-2772323

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3470C>T; p.S1157L; 18:2772323-2772323

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3845C>T; p.T1282I; 18:2778193-2778193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1913C>A; p.S638Y; 18:2740757-2740757

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2152C>T; p.P718S; 18:2747528-2747528

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2522G>T; p.S841I; 18:2751290-2751290

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2522G>T; p.S841I; 18:2751290-2751290

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.3040G>A; p.V1014M; 18:2763766-2763766

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4003C>T; p.R1335W; 18:2784561-2784561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1354delA; p.D454fs*39; 18:2729371-2729371

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.90A>G; p.V30V; 18:2703790-2703790

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3086G>T; p.S1029I; 18:2769716-2769716

 livercarcinomaSubstitution - Missense

c.760G>C; p.G254R; 18:2718392-2718392

 livercarcinomaSubstitution - Missense

c.3869C>T; p.A1290V; 18:2778217-2778217

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3869C>T; p.A1290V; 18:2778217-2778217

 breastcarcinomaSubstitution - Missense

c.632C>T; p.S211L; 18:2718185-2718185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1013C>T; p.A338V; 18:2724964-2724964

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.981A>T; p.K327N; 18:2724932-2724932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.981A>T; p.K327N; 18:2724932-2724932

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.981A>T; p.K327N; 18:2724932-2724932

 thyroidother; neoplasmSubstitution - Missense

c.2352G>T; p.R784S; 18:2750350-2750350

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3557C>T; p.A1186V; 18:2775771-2775771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2170G>T; p.D724Y; 18:2747546-2747546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2428C>T; p.L810F; 18:2750426-2750426

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1489G>T; p.A497S; 18:2732361-2732361

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819T>C; p.V940A; 18:2762145-2762145

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1161A>C; p.L387F; 18:2728500-2728500

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2237T>C; p.V746A; 18:2747613-2747613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1138G>T; p.V380L; 18:2728477-2728477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.816G>T; p.E272D; 18:2722532-2722532

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2168G>T; p.R723I; 18:2747544-2747544

 breastcarcinomaSubstitution - Missense

c.151G>T; p.E51*; 18:2703851-2703851

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2352-1G>T; p.?; 18:2750349-2750349

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1315A>G; p.S439G; 18:2729332-2729332

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3355G>A; p.E1119K; 18:2771577-2771577

 oesophaguscarcinomaSubstitution - Missense

c.682+1G>A; p.?; 18:2718236-2718236

 lungcarcinoma; adenocarcinomaUnknown

c.4052G>T; p.G1351V; 18:2784610-2784610

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.522A>G; p.K174K; 18:2707838-2707838

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1744T>C; p.S582P; 18:2738520-2738520

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1928C>T; p.S643L; 18:2740772-2740772

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3601G>T; p.V1201F; 18:2775815-2775815

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2769C>T; p.N923N; 18:2760730-2760730

 skinmalignant_melanomaSubstitution - coding silent

c.3168C>T; p.I1056I; 18:2769798-2769798

 skinmalignant_melanomaSubstitution - coding silent

c.2413A>G; p.I805V; 18:2750411-2750411

 livercarcinomaSubstitution - Missense

c.2413A>G; p.I805V; 18:2750411-2750411

 livercarcinomaSubstitution - Missense

c.194C>T; p.T65I; 18:2705701-2705701

 ovaryother; neoplasmSubstitution - Missense

c.77delT; p.F27fs*4; 18:2703777-2703777

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.3710+5_3710+6insA; p.?; 18:2775929-2775930

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.2118C>T; p.L706L; 18:2743901-2743901

 breastcarcinomaSubstitution - coding silent

c.269A>T; p.Y90F; 18:2705776-2705776

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2722T>C; p.Y908H; 18:2760683-2760683

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2452C>T; p.R818C; 18:2750450-2750450

 breastcarcinomaSubstitution - Missense

c.2452C>T; p.R818C; 18:2750450-2750450

 skinmalignant_melanomaSubstitution - Missense

c.1206A>G; p.L402L; 18:2728545-2728545

 thyroidcarcinomaSubstitution - coding silent

c.853G>T; p.V285F; 18:2722569-2722569

 breastcarcinomaSubstitution - Missense

c.2059C>T; p.R687C; 18:2743842-2743842

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2059C>T; p.R687C; 18:2743842-2743842

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1505A>G; p.H502R; 18:2732377-2732377

 central_nervous_system; braingliomaSubstitution - Missense

c.2852_2853insA; p.N952fs*8; 18:2762178-2762179

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.109delC; p.P37fs*14; 18:2703809-2703809

 urinary_tract; bladdercarcinomaDeletion - Frameshift

c.1000C>T; p.R334*; 18:2724951-2724951

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1000C>T; p.R334*; 18:2724951-2724951

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.56A>C; p.D19A; 18:2703756-2703756

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1379G>T; p.R460I; 18:2729396-2729396

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2642G>A; p.C881Y; 18:2752504-2752504

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

')