Online Analysis Of Somatic Mutations

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REFERENCE METHOD Start_material: DNA RNA DNA/RNA Exons analyzed: Exon 2 Exon 3 Exon 4 Exon 5 Exon 6 Exon 7 Exon 8 Exon 9 Exon 10 Exon 11 MUTATION ExonIntron: 10-exon 10-intron 11-exon 1-exon 1-intron 2-exon 2-intron 3-exon 3-intron 4-exon 4-intron 5-exon 5-intron 6-exon 6-intron 7-exon 7-intron 8-exon 8-intron 9-exon 9-intron Type: A:T>C:G A:T>G:C A:T>T:A CC tandem complex del G:C>A:T G:C>A:T at CpG G:C>C:G G:C>T:A ins tandem Description: ? 248_289dup A>C A>G A>T A>Tdel1 A>TinsCT AA>CC AA>GG AA>GT AA>TG AA>TT AAACAC>CCCACACGCA AAC>TAA AAG>TAA AAT>TAG AC>GT AC>TA AC>TG AC>TT ACATG>TCATT ACC>GCG ACCGG>TTCCC AG>CA AG>CC AG>CT AG>GA AG>TC AGC>GT AGG>TAC AGT>CCC AT>GA AT>GC AT>TA ATC>GTT C>A C>G C>T C>Tdel1 CA>AC CA>AT CA>GC CA>GG CA>GT CA>TG CAG>AAA CAGCAC>TACCTC CAT>TAG CATCTTATC>GCCCCT CC>AA CC>AG CC>AT CC>GA CC>GT CC>T CC>TA CC>TG CC>TT CCA>ACCC ccaaggcgcac>cccagagccca CG>AA CG>AC CG>AT CG>GA CG>GC CG>GT CG>TA CG>TC CG>TT CGCTGC>TGCTGT CGG>TGC CGT>TCG complex CT>GC CT>GG CT>TA CT>TC CT>TG CTACTT>CTTTT CTCCC>A del exon10 del exon2-10 del exon3 del exon3-4 del exon4 del exon4-6 del exon5-11 del exon5-9 del exon6 del exon8 del exon9 del intron1-intron4 del prom-ex1 del(168-182) del(252-258) del(AAAAT)n del? del1 del10 del100 del107 del11 del117 del1182 del12 del120 del123 del12ins2 del12ins3 del12insGTG del13 del130 del134 del136 del137 del14 del14ins1 del14ins2 del15 del15ins1 del15ins4 del16 del161 del167 del16ins1 del16ins5 del17 del177 del18 del19 del191 del192 del19T>C del1ins2 del1ins6 del1ins8 del2 del20 del200 del20ins2 del21 del22 del225 del23 del2356 del24 del25 del26 del26_?>TA del27 del278 del28 del29 del2ins1 del3 del30 del300 del31 del32 del321 del322 del33 del34 del342(del intron7) del35 del352 del36 del363 del36ins1 del37 del38 del3A>T del3del4 del3ins11 del3ins15 del3ins2 del3insT del3point del4 del40 del400 del41 del42 del44 del45 del45ins45 del45kb del46 del47 del48 del49 del4ins1 del4ins3 del5 del51 del52 del53 del56 del58 del5ins1 del6 del60 del61 del63 del64 del66 del69 del6ins10 del6ins4 del7 del71 del71insC del76 del79 del7ins1 del8 del840 del89 del8ins19 del8ins5 del9 del90 del94 del96 del9ins1 del9ins3 delins delinsGCGTGTGG dupEx7-9 G>A G>AT G>C G>CCC G>Cdel2 G>T G>TA G>Tins1 GA>AC GA>AG GA>AT GA>CC GA>CG GA>CT GA>TT GAA>CA GAC>CCG GAC>CGG GAG>TAA GAT>GG GAT>TAG GAT>TGA GC>AA GC>AG GC>AT GC>CA GC>CG GC>T GC>TA GC>TG GC>TT GCC>ACT GCC>TTT GCCT>ACC GG>A GG>AA GG>AT GG>CA GG>CC GG>CT GG>TA GG>TC GG>TT GGG>AAA GGTAAT>CCTGAT GGTTTCCGTCTG>ATTCAG GT>AA GT>AC GT>AG GT>CC GT>CG GT>TG GTA>C GTG>ATA GTGGAG>CTGGTG GTT>AGTTA ins ins(AAAAT)n ins? ins1 ins10 ins11 ins12 ins1200 ins13 ins133 ins14 ins15 ins16 ins17 ins18 ins19 ins2 ins20 ins200 ins21 ins22 ins23 ins24 ins25 ins28 ins3 ins30 ins33 ins36 ins37 ins4 ins40 ins42 ins48 ins5 ins5&C>T ins50 ins51 ins5inv ins6 ins63 ins69 ins7 ins74 ins76 ins8 ins9 insdel insInFrame point rearrangement/gross del T>A T>C T>Cdel1 T>G T>GC TA>AC TA>GC TA>GG TAC>AAA TAC>CAA TAC>CAG tandem TC>AT TC>CT TC>GG TC>GT TG>A TG>AA TG>CA TG>CC TG>CT TG>GT TGAAAAC>AG TGC>GCG TGT>TA TT>AA TT>CC TT>GC TT>GG TTTTGC>TTCACC Effect: FS intronic large del missense nonsense other silent splice Struct-Function Motif: C-term C-term/NLS C-term/tetramerisation L1/S/H2 L2/L3 NDBL/beta-sheets N-term N-term/Transactivation N-term/Transactivation/NES SH3-like/Pro-rich Nucleotide number =   (see NC_000017-9 sequence)   Mutant base :  (e.g. T) Codon number   =     (1 to 393)   or   >  and/or <  WT AA:  (e.g. his or STOP)  AA letter code WT Codon:  (e.g. CAG) Mutant AA:  (e.g. his or STOP)  Genetic code Mutant codon:  (e.g. CAG) SAMPLE Topography: ADRENAL GLAND ANUS BILIARY TRACT BLADDER BONES (limbs) BONES (other) BRAIN BREAST CERVIX UTERI COLON COLORECTUM, NOS CORPUS UTERI ENDOCRINE GLANDS, NOS ESOPHAGUS EYE AND ADNEXA FEMALE GENITAL ORG., NOS GALLBLADDER GUM HEAD&NECK, NOS HEART/MED/PLEURA HEMATOP. SYSTEM HYPOPHARYNX KIDNEY LARYNX LIP LIVER LUNG LYMPH NODES MENINGES MOUTH (floor) MOUTH (other) NASAL CAVITY NASOPHARYNX NERVES OROPHARYNX OTHER DIGESTIVE ORG. OTHER ENDOCRINE Gl. OTHER FEMALE GEN. ORG. OTHER HEAD&NECK OTHER MALE GEN. ORG. OTHER RESPIR. SYST. OTHER SITES OTHER URINARY ORG. OVARY PALATE PANCREAS PAROTID GLAND PENIS PERITONEUM PLACENTA PROSTATE PYRIFORM SINUS RECTOSIGM. JUNCT. RECTUM RENAL PELVIS SALIVARY GLAND SINUSES SKIN SMALL INTESTINE SOFT TISSUES SPINAL CORD STOMACH TESTIS THYMUS THYROID TONGUE (base) TONGUE (other) TONSIL UNKNOWN SITE URETER URINARY TRACT, NOS UTERUS VAGINA VULVA Morphology: Acinar cell carcinoma Acute leukemia, NOS Acute megakaryoblastic leukemia Acute monocytic leukemia Acute myeloid leukemia with maturation Acute myeloid leukemia, M6 type Acute myeloid leukemia, minimal differentiation Acute myeloid leukemia, NOS Acute myelomonocytic leukemia Acute promyelocytic leukemia Adenocarcinoid tumor Adenocarcinoma in situ in adenomatous polyp Adenocarcinoma in situ, NOS Adenocarcinoma with squamous metaplasia Adenocarcinoma, diffuse type (C16._) Adenocarcinoma, endocervical type Adenocarcinoma, intestinal type (C16._) Adenocarcinoma, metastatic, NOS Adenocarcinoma, NOS Adenofibroma, NOS (C56.9) Adenoid cystic carcinoma Adenoma, NOS Adenosquamous carcinoma Adrenal cortical adenoma, NOS (C74.0) Adrenal cortical carcinoma (C74.0) Adult T-cell leukemia/lymphoma (HTLV-1 positive) Aggressive fibromatosis Aggressive NK-cell leukemia Alveolar rhabdomyosarcoma Ameloblastoma, NOS Anaplastic large cell lymphoma, T cell and null cell type Angioimmunoblastic T-cell lymphoma Angiomyolipoma Apocrine adenocarcinoma Astrocytoma, anaplastic (C71._) Astrocytoma, NOS (C71._) Atypical adenoma Atypical carcinoid tumor Atypical fibrous histiocytoma Barrett's esophagus Basal cell carcinoma, nodular (C44._) Basal cell carcinoma, NOS (C44._) Basaloid carcinoma (C21.1) Basosquamous carcinoma (C44._) B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma Bowen disease (C44._) Brenner tumor, malignant (C56.9) Brenner tumor, NOS (C56.9) Bronchiolo-alveolar adenocarcinoma (C34._) Burkitt cell leukemia Burkitt lymphoma, NOS Cancer, NOS Carcinoid tumor of uncertain malignant potential Carcinoid tumor, NOS (except of Appendix M-8240/1) Carcinoma in pleomorphic adenoma (C07._, C08._) Carcinoma in situ, NOS Carcinoma with osteoclast-like giant cells Carcinoma, anaplastic, NOS Carcinoma, metastatic, NOS Carcinoma, NOS Carcinoma, undifferentiated, NOS Carcinosarcoma, NOS Central neurocytoma Cholangiocarcinoma (C22.1, C24.0) Chondroblastic osteosarcoma (C40._, C41._) Chondrosarcoma, NOS (C40._, C41._) Choriocarcinoma, NOS Choroid plexus carcinoma (C71.5) Chronic myeloid leukemia, NOS Chronic myelomonocytic leukemia, NOS Clear cell adenocarcinofibroma (C56.9) Clear cell adenocarcinoma, NOS Clear cell sarcoma of kidney (C64.9) Clear cell sarcoma, NOS (except of Kidney M-8964/3) Combined hepatocellular carcinoma and cholangiocarcinoma (C22.0) Combined small cell carcinoma Comedocarcinoma, noninfiltrating (C50._) Comedocarcinoma, NOS (C50._) Cribriform carcinoma in situ (C50._) Cribriform carcinoma, NOS Cutaneous T-cell lymphoma, NOS (C44._) Cystadenoma, NOS Dedifferentiated chondrosarcoma (C40._, C41._) Dermatofibrosarcoma, NOS (C44._) Ductal carcinoma in situ, solid type (C50._) Dysgerminoma Dysplasia, mild Dysplasia, moderate Dysplasia, NOS Dysplasia, severe Dysplastic nevus (C44._) Eccrine adenocarcinoma (C44._) Embryo fibroblasts Embryonal carcinoma, NOS Embryonal rhabdomyosarcoma, NOS Embryonal sarcoma Endometrioid adenocarcinoma, NOS Endometriosis, NOS Ependymoma, anaplastic (C71._) Ependymoma, NOS (C71._) Epithelial tumor, benign Epithelioid leiomyoma Esophagitis Essential thrombocythemia Ewing sarcoma Fibrillary astrocytoma (C71._) Fibroadenoma, NOS (C50._) Fibrosarcoma, NOS Fibrosis, NOS Follicular adenocarcinoma, NOS (C73.9) Follicular adenoma (C73.9) Follicular lymphoma, grade 1 Follicular lymphoma, grade 2 Follicular lymphoma, grade 3 Follicular lymphoma, NOS Gastrointestinal stromal sarcoma Gastrointestinal stromal tumor, NOS Gemistocytic astrocytoma (C71._) Germ cell tumor, nonseminomatous (C62._) Germinoma Giant cell and spindle cell carcinoma Giant cell carcinoma Giant cell glioblastoma (C71._) Giant cell tumor of soft parts, NOS Glandular intraepithelial neoplasia, grade III Glassy cell carcinoma Glioblastoma, NOS (C71._) Glioma, malignant (C71._) Gliomatosis cerebri (C71._) Gliosarcoma (C71._) Glomus tumor, NOS Glucagonoma, malignant (C25._) Goblet cell carcinoid Granulosa cell tumor, malignant (C56.9) Hairy cell leukemia (C42.1) Hemangioendothelioma, NOS Hemangiopericytoma, NOS Hemangiosarcoma Hepatoblastoma (C22.0) Hepatocellular adenoma (C22.0) Hepatocellular carcinoma, NOS (C22.0) Hepatoid adecarcinoma Hibernoma Hidrocystoma (C44._) Hodgkin lymphoma, lymphocytic depletion, NOS Hodgkin lymphoma, mixed cellularity, NOS Hodgkin lymphoma, nodular sclerosis, grade 1 Hodgkin lymphoma, nodular sclerosis, NOS Hodgkin lymphoma, NOS Hydatidiform mole, NOS (C58.9) Hypereosinophilic syndrome Hyperplasia, glandular Hyperplasia, NOS Infiltrating basal cell carcinoma, NOS (C44._) Infiltrating duct carcinoma, NOS (C50._) Infiltrating ductular carcinoma (C50._) Inflammatory carcinoma (C50._) Insulinoma, malignant (C25._) Intraductal carcinoma and lobular carcinoma in situ (C50._) Intraductal carcinoma, noninfiltrating, NOS Intraductal papillary adenocarcinoma with invasion (C50._) Intraductal papillary-mucinous adenoma (C25._) Intraductal papillary-mucinous carcinoma, non invasive (C25._) Kaposi sarcoma Keloid Keratoacanthoma, NOS Keratosis, actinic Keratosis, NOS Klatskin tumor (C22.1, C24.0) Large cell carcinoma, NOS Large cell neuroendocrine carcinoma Leiomyosarcoma, NOS Lentigo maligna melanoma (C44._) Leucoplakia, NOS Leukemia, NOS Lipoma, NOS Liposarcoma, NOS Lobular carcinoma, NOS (C50._) Lymphoid leukemia, NOS Lymphomatoid papulosis (C44._) Malignant fibrous histiocytoma Malignant histiocytosis Malignant lymphoma, large B-cell, diffuse, immunoblastic, NOS Malignant lymphoma, large B-cell, diffuse, NOS Malignant lymphoma, mixed small and large cell, diffuse Malignant lymphoma, non-Hodgkin, NOS Malignant lymphoma, NOS Malignant lymphoma, small B lymphocytic, NOS Malignant melanoma, NOS Malignant myoepithelioma Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant rhabdoid tumor Mantle cell lymphoma Marginal zone B-cell lymphoma, NOS Mature T-cell lymphoma, NOS Medullary carcinoma, NOS Medulloblastoma, NOS (C71.6) Meningioma, malignant Meningioma, NOS Merkel cell carcinoma (C44._) Mesodermal mixed tumor Mesothelioma, malignant Metaplasia Metaplastic carcinoma, NOS Mixed cell adenocarcinoma Mixed glioma (C71._) Mixed liposarcoma Mucinous adenocarcinoma Mucinous cystadenocarcinoma, non-invasive (C25._) Mucinous cystadenocarcinoma, NOS (C56.9) Mucinous cystic tumor of borderline malignancy (C56.9) Mucoepidermoid carcinoma Mullerian mixed tumor (C54._) Multifocal superficial basal cell carcinoma (C44._) Multiple myeloma (C42.1) Mycosis fungoides (C44._) Myelodysplastic syndrome with 5q deletion Myelodysplastic syndrome, NOS Myeloid leukemia, NOS Myelosclerosis with myeloid metaplasia Myoepithelioma Myofibroblastic tumor, NOS Myxoid liposarcoma Neoplasm, benign Neoplasm, NOS Nephroblastoma, NOS (C64.9) Neurilemoma, malignant Neuroblastoma, NOS Neuroendocrine carcinoma, NOS Neuroepithelioma, NOS NK/T-cell lymphoma, nasal and nasal-type Nodular melanoma (C44._) Non-small cell carcinoma (C34._) Normal tissue Oat cell carcinoma (C34._) Oligodendroglioma, anaplastic (C71._) Oligodendroglioma, NOS (C71._) Osteochondroma (C40._, C41._) Osteosarcoma, NOS (C40._, C41._) Papillary adenocarcinoma, NOS Papillary carcinoma in situ Papillary carcinoma, follicular variant (C73.9) Papillary carcinoma, NOS Papillary cystadenocarcinoma, NOS (C56.9) Papillary serous cystadenocarcinoma (C56.9) Papillary transitional cell carcinoma (C67._) Papillary transitional cell carcinoma, non invasive (C67._) Papillary transitional cell neoplasm of low malignant potential (C67._) Periosteal osteosarcoma (C40._, C41._) Peripheral neuroectodermal tumor Pheochromocytoma, malignant (C74.1) Pheochromocytoma, NOS (C74.1) Phyllodes tumor, benign (C50._) Phyllodes tumor, malignant (C50._) Pigmented nevus, NOS (C44._) Pilocytic astrocytoma (C71._) Pituitary carcinoma, NOS (C75.1) Plasma cell leukemia (C42.1) Plasmacytoma, NOS Pleomorphic adenoma Pleomorphic carcinoma Pleomorphic liposarcoma Pleomorphic rhabdomyosarcoma, adult type Pleomorphic xanthoastrocytoma (C71._) Pleuropulmonary blastoma Polycythemia vera Polyp, NOS Precursor B-cell lymphoblastic leukemia Precursor cell lymphoblastic leukemia, NOS Precursor cell lymphoblastic lymphoma, NOS Precursor T-cell lymphoblastic leukemia Precursor T-cell lymphoblastic lymphoma Primary effusion lymphoma Primitive neuroectodermal tumor, NOS (C71._) Prolymphocytic leukemia, NOS Pseudosarcomatous carcinoma Pterygium Pulmonary blastoma (C34._) Pulmonary sclerosing hemangioma Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Renal cell carcinoma, chromophobe type (C64.9) Renal cell carcinoma, NOS (C64.9) Renal cell carcinoma, sarcomatoid (C64.9) Retinoblastoma, NOS (C69.2) Rhabdomyosarcoma, NOS Sarcoma, NOS Scirrhous adenocarcinoma Sebaceous adenocarcinoma (C44._) Secretory carcinoma of breast (C50._) Seminoma, NOS (C62._) Serous adenocarcinofibroma Serous cystadenocarcinoma, NOS (C56.9) Serous cystadenoma, borderline malignancy (C56.9) Serous surface papillary carcinoma (C56.9) Serous surface papillary tumor of borderline malignancy (C56.9) Serrated adenoma (C18._) Sex cord-gonadal stromal tumor, NOS Sezary syndrome Signet ring cell carcinoma Small cell carcinoma, fusiform cell Small cell carcinoma, intermediate cell Small cell carcinoma, NOS Solid carcinoma, NOS Solitary fibrous tumor, malignant Spindle cell carcinoma, NOS Spindle cell sarcoma Splenic marginal zone-B-cell lymphoma (C42.2) Squamous cell carcinoma in situ with questionable stromal invasion Squamous cell carcinoma in situ, NOS Squamous cell carcinoma, adenoïd Squamous cell carcinoma, keratinizing, NOS Squamous cell carcinoma, large cell, nonkeratinizing, NOS Squamous cell carcinoma, NOS Squamous cell carcinoma, spindle cell Superficial spreading melanoma (C44._) Sweat gland adenocarcinoma (C44._) Synovial sarcoma, NOS T-cell large granular lymphocytic leukemia Teratocarcinoma Teratoma with malignant transformation Teratoma, benign Teratoma, malignant, NOS Teratoma, NOS Therapy-related acute myeloid leukemia, NOS Therapy-related myelodysplastic syndrome Thymic carcinoma, NOS (C37.9) Thymoma, NOS (C37.9) Transitional cell carcinoma in situ Transitional cell carcinoma, NOS Trichilemmocarcinoma (C44._) Tubular adenocarcinoma Tubular adenoma, NOS Tubulovillous adenoma, NOS Tumor cells, NOS Undifferentiated sarcoma Urothelial papilloma, NOS Villous adenoma, NOS Waldenstrom macroglobulinemia (C42.0) Yolk sac tumor Tumor origin: metastasis (bone marrow) metastasis (bone) metastasis (brain) metastasis (breast) metastasis (colon) metastasis (liver) metastasis (LN) metastasis (lung) metastasis (neck) metastasis (NOS) metastasis (pericard) metastasis (peritoneum) metastasis (pleura) metastasis (skin) metastasis (small intestine) metastasis (soft tissue) metastasis (spleen) primary recurrent secondary Sample source: ascite bile biopsy bladder washing blood body fluid, NOS bone marrow cell-line pancreatic juice pleural fluids saliva surgery urine xenograft Sample name: (cell-line search) INDIVIDUAL Age > and/or < Sex Male Female Germline mutation APC BRCA BRCA1 BRCA2 CHEK2 FHIT GSTM10 GSTM10/GSTT10 GSTM10/GSTT1A GSTM1A/GSTT1A hMLH1 hMSH2 NF1 OGG1(R154H) p21 polym S31R P73 polym (T629C) PTEN RB1 TP53 mut ex11:T>A TP53 mut g.13134C>T, c.P152L TP53 mut g.13326C>T, c.A189V TP53 mut g.14031A>G, c.N235S TP53 mut g.14094C>T, c.T256I TP53 mut g.14516C>T, c.R283C TP53 mut g.14517G>A, c.R283H TP53 mut g.17584G>T, c.E336X XP XP-C XP-D XP-V Country Argentina Australia Austria Belarus Belgium Brazil Canada Chile China China, Hong-Kong Chinese Taipei (Taiwan) Croatia Cuba Czech Republic Denmark Egypt Finland France Gambia Germany Greece Hungary Iceland India Indonesia Iran Ireland Israel Italy Jamaica Japan Korea Luxembourg Malawi Malaysia Mexico Mozambique New Zealand Norway Papua New Guinea Poland Portugal Russia Saudi Arabia Senegal Singapore Slovenia South Africa Spain Sri Lanka Sudan Sweden Switzerland Thailand The Netherlands Tunisia Turkey Uganda UK Ukraine Uruguay USA Population Australia/New Zealand Caribbean Central America Eastern Africa Eastern Asia Eastern Europe Melanesia Northern Africa Northern America Northern Europe South America South Central Asia South Eastern Asia Southern Africa Southern Europe Western Africa Western Asia Western Europe Infectious agent BKV EBV- EBV-/HIV- EBV+ EBV+/HIV- EBV+/KSHV+ HBV- HBV-/HCV- HBV-/HCV+ HBV-/HPV+ HBV+ HBV+/HCV- HBV+/HCV+ HCV- HCV+ Helicobacter pylori Helicobacter pylori (CagA-) Helicobacter pylori (CagA+) HIV HIV- HPV- HPV+ HPV+ (16) HPV+ (16/18) HPV+ (18) HPV+ (33) HPV+ (52) HPV+ (58) HPV+ (6) HPV+ (68) HV KSHV+ Schistosoma Schistosoma-hematobium Schistosomiasis Schistosomiasis japonica Tobacco: chewer chewer/non-smoker non-smoker passive-smoker smoker smoker (cigar) smoker (ex) smoker (heavy) smoker (heavy, pipe) smoker (light) smoker (moderate) smoker (moderate, cigar) smoker (pipe) smoker/chewer smoker/snuff Alcohol: drinker drinker (ex) drinker (heavy) drinker (light) drinker (moderate) non-drinker Exposure: aflatoxins aristolochic acid aromatic amines (a-Naphthylamine) aromatic amines (Benzidine) aromatic amines (b-Naphthylamine) aromatic amines (Orthotoluidine) aromatic amines, NOS arsenic asbestos betel quid chemotherapy cisplatin coal cyclophosphamide heavy metals hot mate tea hot tea immunosuppressive treatment leather dust mate tea MNNG mustard gas non-snuff-dippers pesticides petrochemicals phenacetin pickled cabbage pickled cabbage/hot tea psoralen&UVA radiation (atomic-bomb) radiation (Chernobyl accident) radiation (radiosurgery) radiation (radiotherapy) radiotherapy+chemotherapy radon solvents tamoxifen thorotrast Toombak-dippers UV radiation vinyl chloride wood dust Top page

REFERENCE MUTATION ExonIntron: 10-exon 10-intron 11-exon 1-exon 1-intron 2-exon 2-intron 3-exon 3-intron 4-exon 4-intron 5-exon 5-intron 6-exon 6-intron 7-exon 7-intron 8-exon 8-intron 9-exon 9-intron Type: A:T>C:G A:T>G:C A:T>T:A CC tandem complex del G:C>A:T G:C>A:T at CpG G:C>C:G G:C>T:A ins tandem Description: ? 248_289dup A>C A>G A>T A>Tdel1 A>TinsCT AA>CC AA>GG AA>GT AA>TG AA>TT AAACAC>CCCACACGCA AAC>TAA AAG>TAA AAT>TAG AC>GT AC>TA AC>TG AC>TT ACATG>TCATT ACC>GCG ACCGG>TTCCC AG>CA AG>CC AG>CT AG>GA AG>TC AGC>GT AGG>TAC AGT>CCC AT>GA AT>GC AT>TA ATC>GTT C>A C>G C>T C>Tdel1 CA>AC CA>AT CA>GC CA>GG CA>GT CA>TG CAG>AAA CAGCAC>TACCTC CAT>TAG CATCTTATC>GCCCCT CC>AA CC>AG CC>AT CC>GA CC>GT CC>T CC>TA CC>TG CC>TT CCA>ACCC ccaaggcgcac>cccagagccca CG>AA CG>AC CG>AT CG>GA CG>GC CG>GT CG>TA CG>TC CG>TT CGCTGC>TGCTGT CGG>TGC CGT>TCG complex CT>GC CT>GG CT>TA CT>TC CT>TG CTACTT>CTTTT CTCCC>A del exon10 del exon2-10 del exon3 del exon3-4 del exon4 del exon4-6 del exon5-11 del exon5-9 del exon6 del exon8 del exon9 del intron1-intron4 del prom-ex1 del(168-182) del(252-258) del(AAAAT)n del? del1 del10 del100 del107 del11 del117 del1182 del12 del120 del123 del12ins2 del12ins3 del12insGTG del13 del130 del134 del136 del137 del14 del14ins1 del14ins2 del15 del15ins1 del15ins4 del16 del161 del167 del16ins1 del16ins5 del17 del177 del18 del19 del191 del192 del19T>C del1ins2 del1ins6 del1ins8 del2 del20 del200 del20ins2 del21 del22 del225 del23 del2356 del24 del25 del26 del26_?>TA del27 del278 del28 del29 del2ins1 del3 del30 del300 del31 del32 del321 del322 del33 del34 del342(del intron7) del35 del352 del36 del363 del36ins1 del37 del38 del3A>T del3del4 del3ins11 del3ins15 del3ins2 del3insT del3point del4 del40 del400 del41 del42 del44 del45 del45ins45 del45kb del46 del47 del48 del49 del4ins1 del4ins3 del5 del51 del52 del53 del56 del58 del5ins1 del6 del60 del61 del63 del64 del66 del69 del6ins10 del6ins4 del7 del71 del71insC del76 del79 del7ins1 del8 del840 del89 del8ins19 del8ins5 del9 del90 del94 del96 del9ins1 del9ins3 delins delinsGCGTGTGG dupEx7-9 G>A G>AT G>C G>CCC G>Cdel2 G>T G>TA G>Tins1 GA>AC GA>AG GA>AT GA>CC GA>CG GA>CT GA>TT GAA>CA GAC>CCG GAC>CGG GAG>TAA GAT>GG GAT>TAG GAT>TGA GC>AA GC>AG GC>AT GC>CA GC>CG GC>T GC>TA GC>TG GC>TT GCC>ACT GCC>TTT GCCT>ACC GG>A GG>AA GG>AT GG>CA GG>CC GG>CT GG>TA GG>TC GG>TT GGG>AAA GGTAAT>CCTGAT GGTTTCCGTCTG>ATTCAG GT>AA GT>AC GT>AG GT>CC GT>CG GT>TG GTA>C GTG>ATA GTGGAG>CTGGTG GTT>AGTTA ins ins(AAAAT)n ins? ins1 ins10 ins11 ins12 ins1200 ins13 ins133 ins14 ins15 ins16 ins17 ins18 ins19 ins2 ins20 ins200 ins21 ins22 ins23 ins24 ins25 ins28 ins3 ins30 ins33 ins36 ins37 ins4 ins40 ins42 ins48 ins5 ins5&C>T ins50 ins51 ins5inv ins6 ins63 ins69 ins7 ins74 ins76 ins8 ins9 insdel insInFrame point rearrangement/gross del T>A T>C T>Cdel1 T>G T>GC TA>AC TA>GC TA>GG TAC>AAA TAC>CAA TAC>CAG tandem TC>AT TC>CT TC>GG TC>GT TG>A TG>AA TG>CA TG>CC TG>CT TG>GT TGAAAAC>AG TGC>GCG TGT>TA TT>AA TT>CC TT>GC TT>GG TTTTGC>TTCACC Effect: FS intronic large del missense nonsense other silent splice Struct-Function Motif: C-term C-term/NLS C-term/tetramerisation L1/S/H2 L2/L3 NDBL/beta-sheets N-term N-term/Transactivation N-term/Transactivation/NES SH3-like/Pro-rich Nucleotide number =   (see NC_000017-9 sequence)   Mutant base :  (e.g. T) Codon number =  (1 to 393)   or   >   or < Wild-Type AA:  (e.g. his or STOP)  AA letter code Wild-Type Codon:  (e.g. CAG) Mutant AA:  (e.g. his or STOP)  Genetic code Mutant codon:  (e.g. CAG) SAMPLE Topography: ADRENAL GLAND ANUS BILIARY TRACT BLADDER BONES (limbs) BONES (other) BRAIN BREAST CERVIX UTERI COLON COLORECTUM, NOS CORPUS UTERI ENDOCRINE GLANDS, NOS ESOPHAGUS EYE AND ADNEXA FEMALE GENITAL ORG., NOS GALLBLADDER GUM HEAD&NECK, NOS HEART/MED/PLEURA HEMATOP. SYSTEM HYPOPHARYNX KIDNEY LARYNX LIP LIVER LUNG LYMPH NODES MENINGES MOUTH (floor) MOUTH (other) NASAL CAVITY NASOPHARYNX NERVES OROPHARYNX OTHER DIGESTIVE ORG. OTHER ENDOCRINE Gl. OTHER FEMALE GEN. ORG. OTHER HEAD&NECK OTHER MALE GEN. ORG. OTHER RESPIR. SYST. OTHER SITES OTHER URINARY ORG. OVARY PALATE PANCREAS PAROTID GLAND PENIS PERITONEUM PLACENTA PROSTATE PYRIFORM SINUS RECTOSIGM. JUNCT. RECTUM RENAL PELVIS SALIVARY GLAND SINUSES SKIN SMALL INTESTINE SOFT TISSUES SPINAL CORD STOMACH TESTIS THYMUS THYROID TONGUE (base) TONGUE (other) TONSIL UNKNOWN SITE URETER URINARY TRACT, NOS UTERUS VAGINA VULVA Morphology: Acinar cell carcinoma Acute leukemia, NOS Acute megakaryoblastic leukemia Acute monocytic leukemia Acute myeloid leukemia with maturation Acute myeloid leukemia, M6 type Acute myeloid leukemia, minimal differentiation Acute myeloid leukemia, NOS Acute myelomonocytic leukemia Acute promyelocytic leukemia Adenocarcinoid tumor Adenocarcinoma in situ in adenomatous polyp Adenocarcinoma in situ, NOS Adenocarcinoma with squamous metaplasia Adenocarcinoma, diffuse type (C16._) Adenocarcinoma, endocervical type Adenocarcinoma, intestinal type (C16._) Adenocarcinoma, metastatic, NOS Adenocarcinoma, NOS Adenofibroma, NOS (C56.9) Adenoid cystic carcinoma Adenoma, NOS Adenosquamous carcinoma Adrenal cortical adenoma, NOS (C74.0) Adrenal cortical carcinoma (C74.0) Adult T-cell leukemia/lymphoma (HTLV-1 positive) Aggressive fibromatosis Aggressive NK-cell leukemia Alveolar rhabdomyosarcoma Ameloblastoma, NOS Anaplastic large cell lymphoma, T cell and null cell type Angioimmunoblastic T-cell lymphoma Angiomyolipoma Apocrine adenocarcinoma Astrocytoma, anaplastic (C71._) Astrocytoma, NOS (C71._) Atypical adenoma Atypical carcinoid tumor Atypical fibrous histiocytoma Barrett's esophagus Basal cell carcinoma, nodular (C44._) Basal cell carcinoma, NOS (C44._) Basaloid carcinoma (C21.1) Basosquamous carcinoma (C44._) B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma Bowen disease (C44._) Brenner tumor, malignant (C56.9) Brenner tumor, NOS (C56.9) Bronchiolo-alveolar adenocarcinoma (C34._) Burkitt cell leukemia Burkitt lymphoma, NOS Cancer, NOS Carcinoid tumor of uncertain malignant potential Carcinoid tumor, NOS (except of Appendix M-8240/1) Carcinoma in pleomorphic adenoma (C07._, C08._) Carcinoma in situ, NOS Carcinoma with osteoclast-like giant cells Carcinoma, anaplastic, NOS Carcinoma, metastatic, NOS Carcinoma, NOS Carcinoma, undifferentiated, NOS Carcinosarcoma, NOS Central neurocytoma Cholangiocarcinoma (C22.1, C24.0) Chondroblastic osteosarcoma (C40._, C41._) Chondrosarcoma, NOS (C40._, C41._) Choriocarcinoma, NOS Choroid plexus carcinoma (C71.5) Chronic myeloid leukemia, NOS Chronic myelomonocytic leukemia, NOS Clear cell adenocarcinofibroma (C56.9) Clear cell adenocarcinoma, NOS Clear cell sarcoma of kidney (C64.9) Clear cell sarcoma, NOS (except of Kidney M-8964/3) Combined hepatocellular carcinoma and cholangiocarcinoma (C22.0) Combined small cell carcinoma Comedocarcinoma, noninfiltrating (C50._) Comedocarcinoma, NOS (C50._) Cribriform carcinoma in situ (C50._) Cribriform carcinoma, NOS Cutaneous T-cell lymphoma, NOS (C44._) Cystadenoma, NOS Dedifferentiated chondrosarcoma (C40._, C41._) Dermatofibrosarcoma, NOS (C44._) Ductal carcinoma in situ, solid type (C50._) Dysgerminoma Dysplasia, mild Dysplasia, moderate Dysplasia, NOS Dysplasia, severe Dysplastic nevus (C44._) Eccrine adenocarcinoma (C44._) Embryo fibroblasts Embryonal carcinoma, NOS Embryonal rhabdomyosarcoma, NOS Embryonal sarcoma Endometrioid adenocarcinoma, NOS Endometriosis, NOS Ependymoma, anaplastic (C71._) Ependymoma, NOS (C71._) Epithelial tumor, benign Epithelioid leiomyoma Esophagitis Essential thrombocythemia Ewing sarcoma Fibrillary astrocytoma (C71._) Fibroadenoma, NOS (C50._) Fibrosarcoma, NOS Fibrosis, NOS Follicular adenocarcinoma, NOS (C73.9) Follicular adenoma (C73.9) Follicular lymphoma, grade 1 Follicular lymphoma, grade 2 Follicular lymphoma, grade 3 Follicular lymphoma, NOS Gastrointestinal stromal sarcoma Gastrointestinal stromal tumor, NOS Gemistocytic astrocytoma (C71._) Germ cell tumor, nonseminomatous (C62._) Germinoma Giant cell and spindle cell carcinoma Giant cell carcinoma Giant cell glioblastoma (C71._) Giant cell tumor of soft parts, NOS Glandular intraepithelial neoplasia, grade III Glassy cell carcinoma Glioblastoma, NOS (C71._) Glioma, malignant (C71._) Gliomatosis cerebri (C71._) Gliosarcoma (C71._) Glomus tumor, NOS Glucagonoma, malignant (C25._) Goblet cell carcinoid Granulosa cell tumor, malignant (C56.9) Hairy cell leukemia (C42.1) Hemangioendothelioma, NOS Hemangiopericytoma, NOS Hemangiosarcoma Hepatoblastoma (C22.0) Hepatocellular adenoma (C22.0) Hepatocellular carcinoma, NOS (C22.0) Hepatoid adecarcinoma Hibernoma Hidrocystoma (C44._) Hodgkin lymphoma, lymphocytic depletion, NOS Hodgkin lymphoma, mixed cellularity, NOS Hodgkin lymphoma, nodular sclerosis, grade 1 Hodgkin lymphoma, nodular sclerosis, NOS Hodgkin lymphoma, NOS Hydatidiform mole, NOS (C58.9) Hypereosinophilic syndrome Hyperplasia, glandular Hyperplasia, NOS Infiltrating basal cell carcinoma, NOS (C44._) Infiltrating duct carcinoma, NOS (C50._) Infiltrating ductular carcinoma (C50._) Inflammatory carcinoma (C50._) Insulinoma, malignant (C25._) Intraductal carcinoma and lobular carcinoma in situ (C50._) Intraductal carcinoma, noninfiltrating, NOS Intraductal papillary adenocarcinoma with invasion (C50._) Intraductal papillary-mucinous adenoma (C25._) Intraductal papillary-mucinous carcinoma, non invasive (C25._) Kaposi sarcoma Keloid Keratoacanthoma, NOS Keratosis, actinic Keratosis, NOS Klatskin tumor (C22.1, C24.0) Large cell carcinoma, NOS Large cell neuroendocrine carcinoma Leiomyosarcoma, NOS Lentigo maligna melanoma (C44._) Leucoplakia, NOS Leukemia, NOS Lipoma, NOS Liposarcoma, NOS Lobular carcinoma, NOS (C50._) Lymphoid leukemia, NOS Lymphomatoid papulosis (C44._) Malignant fibrous histiocytoma Malignant histiocytosis Malignant lymphoma, large B-cell, diffuse, immunoblastic, NOS Malignant lymphoma, large B-cell, diffuse, NOS Malignant lymphoma, mixed small and large cell, diffuse Malignant lymphoma, non-Hodgkin, NOS Malignant lymphoma, NOS Malignant lymphoma, small B lymphocytic, NOS Malignant melanoma, NOS Malignant myoepithelioma Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant rhabdoid tumor Mantle cell lymphoma Marginal zone B-cell lymphoma, NOS Mature T-cell lymphoma, NOS Medullary carcinoma, NOS Medulloblastoma, NOS (C71.6) Meningioma, malignant Meningioma, NOS Merkel cell carcinoma (C44._) Mesodermal mixed tumor Mesothelioma, malignant Metaplasia Metaplastic carcinoma, NOS Mixed cell adenocarcinoma Mixed glioma (C71._) Mixed liposarcoma Mucinous adenocarcinoma Mucinous cystadenocarcinoma, non-invasive (C25._) Mucinous cystadenocarcinoma, NOS (C56.9) Mucinous cystic tumor of borderline malignancy (C56.9) Mucoepidermoid carcinoma Mullerian mixed tumor (C54._) Multifocal superficial basal cell carcinoma (C44._) Multiple myeloma (C42.1) Mycosis fungoides (C44._) Myelodysplastic syndrome with 5q deletion Myelodysplastic syndrome, NOS Myeloid leukemia, NOS Myelosclerosis with myeloid metaplasia Myoepithelioma Myofibroblastic tumor, NOS Myxoid liposarcoma Neoplasm, benign Neoplasm, NOS Nephroblastoma, NOS (C64.9) Neurilemoma, malignant Neuroblastoma, NOS Neuroendocrine carcinoma, NOS Neuroepithelioma, NOS NK/T-cell lymphoma, nasal and nasal-type Nodular melanoma (C44._) Non-small cell carcinoma (C34._) Normal tissue Oat cell carcinoma (C34._) Oligodendroglioma, anaplastic (C71._) Oligodendroglioma, NOS (C71._) Osteochondroma (C40._, C41._) Osteosarcoma, NOS (C40._, C41._) Papillary adenocarcinoma, NOS Papillary carcinoma in situ Papillary carcinoma, follicular variant (C73.9) Papillary carcinoma, NOS Papillary cystadenocarcinoma, NOS (C56.9) Papillary serous cystadenocarcinoma (C56.9) Papillary transitional cell carcinoma (C67._) Papillary transitional cell carcinoma, non invasive (C67._) Papillary transitional cell neoplasm of low malignant potential (C67._) Periosteal osteosarcoma (C40._, C41._) Peripheral neuroectodermal tumor Pheochromocytoma, malignant (C74.1) Pheochromocytoma, NOS (C74.1) Phyllodes tumor, benign (C50._) Phyllodes tumor, malignant (C50._) Pigmented nevus, NOS (C44._) Pilocytic astrocytoma (C71._) Pituitary carcinoma, NOS (C75.1) Plasma cell leukemia (C42.1) Plasmacytoma, NOS Pleomorphic adenoma Pleomorphic carcinoma Pleomorphic liposarcoma Pleomorphic rhabdomyosarcoma, adult type Pleomorphic xanthoastrocytoma (C71._) Pleuropulmonary blastoma Polycythemia vera Polyp, NOS Precursor B-cell lymphoblastic leukemia Precursor cell lymphoblastic leukemia, NOS Precursor cell lymphoblastic lymphoma, NOS Precursor T-cell lymphoblastic leukemia Precursor T-cell lymphoblastic lymphoma Primary effusion lymphoma Primitive neuroectodermal tumor, NOS (C71._) Prolymphocytic leukemia, NOS Pseudosarcomatous carcinoma Pterygium Pulmonary blastoma (C34._) Pulmonary sclerosing hemangioma Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Renal cell carcinoma, chromophobe type (C64.9) Renal cell carcinoma, NOS (C64.9) Renal cell carcinoma, sarcomatoid (C64.9) Retinoblastoma, NOS (C69.2) Rhabdomyosarcoma, NOS Sarcoma, NOS Scirrhous adenocarcinoma Sebaceous adenocarcinoma (C44._) Secretory carcinoma of breast (C50._) Seminoma, NOS (C62._) Serous adenocarcinofibroma Serous cystadenocarcinoma, NOS (C56.9) Serous cystadenoma, borderline malignancy (C56.9) Serous surface papillary carcinoma (C56.9) Serous surface papillary tumor of borderline malignancy (C56.9) Serrated adenoma (C18._) Sex cord-gonadal stromal tumor, NOS Sezary syndrome Signet ring cell carcinoma Small cell carcinoma, fusiform cell Small cell carcinoma, intermediate cell Small cell carcinoma, NOS Solid carcinoma, NOS Solitary fibrous tumor, malignant Spindle cell carcinoma, NOS Spindle cell sarcoma Splenic marginal zone-B-cell lymphoma (C42.2) Squamous cell carcinoma in situ with questionable stromal invasion Squamous cell carcinoma in situ, NOS Squamous cell carcinoma, adenoïd Squamous cell carcinoma, keratinizing, NOS Squamous cell carcinoma, large cell, nonkeratinizing, NOS Squamous cell carcinoma, NOS Squamous cell carcinoma, spindle cell Superficial spreading melanoma (C44._) Sweat gland adenocarcinoma (C44._) Synovial sarcoma, NOS T-cell large granular lymphocytic leukemia Teratocarcinoma Teratoma with malignant transformation Teratoma, benign Teratoma, malignant, NOS Teratoma, NOS Therapy-related acute myeloid leukemia, NOS Therapy-related myelodysplastic syndrome Thymic carcinoma, NOS (C37.9) Thymoma, NOS (C37.9) Transitional cell carcinoma in situ Transitional cell carcinoma, NOS Trichilemmocarcinoma (C44._) Tubular adenocarcinoma Tubular adenoma, NOS Tubulovillous adenoma, NOS Tumor cells, NOS Undifferentiated sarcoma Urothelial papilloma, NOS Villous adenoma, NOS Waldenstrom macroglobulinemia (C42.0) Yolk sac tumor Tumor origin: metastasis (bone marrow) metastasis (bone) metastasis (brain) metastasis (breast) metastasis (colon) metastasis (liver) metastasis (LN) metastasis (lung) metastasis (neck) metastasis (NOS) metastasis (pericard) metastasis (peritoneum) metastasis (pleura) metastasis (skin) metastasis (small intestine) metastasis (soft tissue) metastasis (spleen) primary recurrent secondary Sample source: ascite bile biopsy bladder washing blood body fluid, NOS bone marrow cell-line pancreatic juice pleural fluids saliva surgery urine xenograft Sample name: (cell-line search) INDIVIDUAL Age  >   or  < Sex Male Female Germline mutation APC BRCA BRCA1 BRCA2 CHEK2 FHIT GSTM10 GSTM10/GSTT10 GSTM10/GSTT1A GSTM1A/GSTT1A hMLH1 hMSH2 NF1 OGG1(R154H) p21 polym S31R P73 polym (T629C) PTEN RB1 TP53 mut ex11:T>A TP53 mut g.13134C>T, c.P152L TP53 mut g.13326C>T, c.A189V TP53 mut g.14031A>G, c.N235S TP53 mut g.14094C>T, c.T256I TP53 mut g.14516C>T, c.R283C TP53 mut g.14517G>A, c.R283H TP53 mut g.17584G>T, c.E336X XP XP-C XP-D XP-V Country Argentina Australia Austria Belarus Belgium Brazil Canada Chile China China, Hong-Kong Chinese Taipei (Taiwan) Croatia Cuba Czech Republic Denmark Egypt Finland France Gambia Germany Greece Hungary Iceland India Indonesia Iran Ireland Israel Italy Jamaica Japan Korea Luxembourg Malawi Malaysia Mexico Mozambique New Zealand Norway Papua New Guinea Poland Portugal Russia Saudi Arabia Senegal Singapore Slovenia South Africa Spain Sri Lanka Sudan Sweden Switzerland Thailand The Netherlands Tunisia Turkey Uganda UK Ukraine Uruguay USA Population Australia/New Zealand Caribbean Central America Eastern Africa Eastern Asia Eastern Europe Melanesia Northern Africa Northern America Northern Europe South America South Central Asia South Eastern Asia Southern Africa Southern Europe Western Africa Western Asia Western Europe Infectious agent BKV EBV- EBV-/HIV- EBV+ EBV+/HIV- EBV+/KSHV+ HBV- HBV-/HCV- HBV-/HCV+ HBV-/HPV+ HBV+ HBV+/HCV- HBV+/HCV+ HCV- HCV+ Helicobacter pylori Helicobacter pylori (CagA-) Helicobacter pylori (CagA+) HIV HIV- HPV- HPV+ HPV+ (16) HPV+ (16/18) HPV+ (18) HPV+ (33) HPV+ (52) HPV+ (58) HPV+ (6) HPV+ (68) HV KSHV+ Schistosoma Schistosoma-hematobium Schistosomiasis Schistosomiasis japonica Tobacco: chewer chewer/non-smoker non-smoker passive-smoker smoker smoker (cigar) smoker (ex) smoker (heavy) smoker (heavy, pipe) smoker (light) smoker (moderate) smoker (moderate, cigar) smoker (pipe) smoker/chewer smoker/snuff Alcohol: drinker drinker (ex) drinker (heavy) drinker (light) drinker (moderate) non-drinker Exposure: aflatoxins aristolochic acid aromatic amines (a-Naphthylamine) aromatic amines (Benzidine) aromatic amines (b-Naphthylamine) aromatic amines (Orthotoluidine) aromatic amines, NOS arsenic asbestos betel quid chemotherapy cisplatin coal cyclophosphamide heavy metals hot mate tea hot tea immunosuppressive treatment leather dust mate tea MNNG mustard gas non-snuff-dippers pesticides petrochemicals phenacetin pickled cabbage pickled cabbage/hot tea psoralen&UVA radiation (atomic-bomb) radiation (Chernobyl accident) radiation (radiosurgery) radiation (radiotherapy) radiotherapy+chemotherapy radon solvents tamoxifen thorotrast Toombak-dippers UV radiation vinyl chloride wood dust

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