Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 3 11 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44099378 44099378 + Missense_Mutation SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr2:44099378G>A ENST00000272286.2 + 8 1234 c.1144G>A c.(1144-1146)Gac>Aac p.D382N NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 382 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GACCCCACTAGACACCAACTG 0.582000 11 57 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr5:140237074G>A ENST00000307360.5 + 1 1441 c.1441G>A c.(1441-1443)Gcg>Acg p.A481T PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.A481S(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGTGGGACGCGGACGCGCA 0.662000 5 280 0 0 1 0 0 GPX2 2877 broad.mit.edu 37 14 65409342 65409342 + Missense_Mutation SNP T T G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr14:65409342T>G ENST00000389614.5 - 1 189 c.103A>C c.(103-105)Aat>Cat p.N35H CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 35 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) GAAGCCACATTCTCAATCAGC 0.577000 5 113 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 366 1.23904e-05 1.37893e-05 1 1 0 KLHL3 26249 broad.mit.edu 37 5 136993906 136993906 + Missense_Mutation SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr5:136993906T>C ENST00000508657.1 - 8 1435 c.721A>G c.(721-723)Atg>Gtg p.M241V KLHL3_ENST00000394937.3_Missense_Mutation_p.M273V|KLHL3_ENST00000541417.1_Missense_Mutation_p.M153V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M191V|KLHL3_ENST00000309755.4_Missense_Mutation_p.M273V|KLHL3_ENST00000506873.1_5'UTR NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 273 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) TGGTATTTCATGGCCTCAATG 0.473000 44 66 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130023308 130023308 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr7:130023308C>T ENST00000011292.3 + 5 710 c.560C>T c.(559-561)gCc>gTc p.A187V CPA1_ENST00000484324.1_Missense_Mutation_p.A99V NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 187 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GTCACCCAGGCCAGTGGGGTC 0.642000 18 47 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1416304 1416304 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr5:1416304C>T ENST00000270349.9 - 7 1067 c.940G>A c.(940-942)Gcg>Acg p.A314T SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314T NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 314 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGGTGGCCGCGTCAATCCAA 0.627000 9 67 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGCGGCTCATAGGGCACCAC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 5 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800596 70800596 + Missense_Mutation SNP C C T rs140476927 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr7:70800596C>T ENST00000333538.5 + 2 933 c.299C>T c.(298-300)cCg>cTg p.P100L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 100 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGGGCCTTCCGGCTACTCTT 0.463000 7 86 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104033987 104033987 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr12:104033987G>A ENST00000388887.2 + 9 1197 c.993G>A c.(991-993)ccG>ccA p.P331P NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 331 EGF-like 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAGATAACCCGTGTCATAGGA 0.463000 32 80 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75282973 75282973 + Nonsense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr11:75282973C>T ENST00000524558.1 + 5 2537 c.1102C>T c.(1102-1104)Cag>Tag p.Q368* SERPINH1_ENST00000533603.1_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000358171.3_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000525876.1_Nonsense_Mutation_p.Q151* P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 368 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CCCCTTTGACCAGGACATCTA 0.617000 21 62 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42873066 42873066 + Missense_Mutation SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr19:42873066G>A ENST00000334370.4 + 36 6987 c.6352G>A c.(6352-6354)Ggg>Agg p.G2118R MEGF8_ENST00000251268.6_Missense_Mutation_p.G2185R NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2185 PSI 6. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GTGTGCAAACGGGCACCACGA 0.622000 51 54 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220955136 220955136 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr1:220955136C>T ENST00000366913.3 + 7 1099 c.901C>T c.(901-903)Cct>Tct p.P301S MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 301 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding p.P301A(1) CCTGTGTGATCCTTCTGAGAG 0.393000 7 99 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152763234 152763234 + Silent SNP C C A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:152763234C>A ENST00000367255.5 - 31 4585 c.3984G>T c.(3982-3984)cgG>cgT p.R1328R SYNE1_ENST00000423061.1_Silent_p.R1335R|SYNE1_ENST00000367248.3_Silent_p.R1318R|SYNE1_ENST00000367253.4_Silent_p.R1328R|SYNE1_ENST00000265368.4_Silent_p.R1328R|SYNE1_ENST00000413186.2_Silent_p.R1328R|SYNE1_ENST00000448038.1_Silent_p.R1335R|SYNE1_ENST00000341594.5_Silent_p.R1394R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1328 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGCCTCTCCCGGCTGCGCT 0.632000 HNSCC(10;0.0054) 4 148 0.184627 0.187342 1 1 0 GAB4 128954 broad.mit.edu 37 22 17444666 17444666 + Silent SNP C C G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr22:17444666C>G ENST00000400588.1 - 9 1637 c.1530G>C c.(1528-1530)ccG>ccC p.P510P NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 510 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) CAGTGCTCCTCGGCGGGGCTG 0.612000 3 55 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95926723 95926723 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr12:95926723C>T ENST00000258499.3 - 2 1598 c.1310G>A c.(1309-1311)cGt>cAt p.R437H USP44_ENST00000537435.2_Missense_Mutation_p.R437H|USP44_ENST00000393091.2_Missense_Mutation_p.R437H|USP44_ENST00000552440.1_Missense_Mutation_p.R437H NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 437 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTCTAATTCACGTTGTATTTT 0.393000 11 76 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18236804 18236804 + Missense_Mutation SNP T T G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:18236804T>G ENST00000397239.3 - 9 1373 c.926A>C c.(925-927)gAt>gCt p.D309A DEK_ENST00000244776.7_Missense_Mutation_p.D275A NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 309 Asp/Glu-rich (acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) TAAAGGTTCATCATCTGAACT 0.294000 T NUP214 AML 6 59 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 9 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 744513 744513 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr20:744513G>A ENST00000381944.3 - 3 943 c.702C>T c.(700-702)tgC>tgT p.C234C SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Silent_p.C234C Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 234 sensory perception of sound integral to plasma membrane riboflavin transporter activity ACGCCACGAGGCAGCAGGCCA 0.612000 6 83 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr17:7578508C>T ENST00000420246.2 - 5 554 c.422G>A c.(421-423)tGc>tAc p.C141Y TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGCACAGGGCAGGTCTTGGC 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 78 0 0 1 0 0 NUDT13 25961 broad.mit.edu 37 10 74879835 74879835 + Missense_Mutation SNP C C T rs145352986 byFrequency TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr10:74879835C>T ENST00000357321.4 + 3 261 c.143C>T c.(142-144)gCg>gTg p.A48V NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.A48V|NUDT13_ENST00000349051.5_Missense_Mutation_p.A48V|NUDT13_ENST00000544879.1_5'UTR NM_015901.4 NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 48 hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) CAAACAGGAGCGTTTTACCTC 0.448000 25 106 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239616 31239616 + Missense_Mutation SNP C C A rs150810080 byFrequency TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:31239616C>A ENST00000383329.3 - 2 117 c.103G>T c.(103-105)Gcc>Tcc p.A35S HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 35 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGGGACACGGCGGTGTCGAAA 0.721000 4 58 0.00909568 0.00980628 1 1 0 FBN2 2201 broad.mit.edu 37 5 127800505 127800505 + Silent SNP C C T rs150087436 byFrequency TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr5:127800505C>T ENST00000508053.1 - 12 1712 c.738G>A c.(736-738)gcG>gcA p.A246A FBN2_ENST00000508989.1_Silent_p.A213A|FBN2_ENST00000262464.4_Silent_p.A246A P35556 FBN2_HUMAN fibrillin 2 246 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GATGGCCCCACGCCCGTCCAA 0.607000 4 125 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117448196 117448196 + Silent SNP G G A rs146667375 byFrequency TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr12:117448196G>A ENST00000455858.2 + 8 1183 c.1110G>A c.(1108-1110)acG>acA p.T370T FBXW8_ENST00000309909.5_Silent_p.T436T NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 436 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) GTGACTTCACGTGTGTCAACC 0.572000 14 146 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 15 0.150653 0.155151 1 1 0 MCTP2 55784 broad.mit.edu 37 15 94927307 94927307 + Missense_Mutation SNP A A G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr15:94927307A>G ENST00000357742.4 + 12 1639 c.1639A>G c.(1639-1641)Acc>Gcc p.T547A MCTP2_ENST00000451018.3_Missense_Mutation_p.T547A|MCTP2_ENST00000331706.4_Missense_Mutation_p.T135A|MCTP2_ENST00000557742.1_Missense_Mutation_p.T135A NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 547 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCAGACGCATACCGTCTACAA 0.433000 5 49 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 25 36 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136588241 136588241 + Missense_Mutation SNP T T G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:136588241T>G ENST00000531224.1 - 11 2722 c.2470A>C c.(2470-2472)Act>Cct p.T824P BCLAF1_ENST00000031135.9_Missense_Mutation_p.T42P|BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T651P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T822P NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 824 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGAAAAGTAGTATTTGAGTTG 0.393000 7 83 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41084138 41084138 + Missense_Mutation SNP A A G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:41084138A>G ENST00000324545.7 + 40 7528 c.6895A>G c.(6895-6897)Acc>Gcc p.T2299A USP9X_ENST00000378308.2_Missense_Mutation_p.T2299A NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2299 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTCAGAGGAAACCGTCAAATT 0.383000 4 52 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167752140 167752140 + Missense_Mutation SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:167752140T>C ENST00000239587.5 + 2 141 c.53T>C c.(52-54)tTg>tCg p.L18S NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 18 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CACAGATCTTTGAGAACCACC 0.488000 31 48 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314482 54314482 + Missense_Mutation SNP T T A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr19:54314482T>A ENST00000324134.6 - 3 599 c.431A>T c.(430-432)aAt>aTt p.N144I NLRP12_ENST00000391775.3_Missense_Mutation_p.N144I|NLRP12_ENST00000345770.5_Missense_Mutation_p.N144I|NLRP12_ENST00000354278.3_Missense_Mutation_p.N144I|NLRP12_ENST00000351894.4_Missense_Mutation_p.N144I|NLRP12_ENST00000391773.1_Missense_Mutation_p.N144I|NLRP12_ENST00000391772.1_Missense_Mutation_p.N144I|NLRP12_ENST00000535162.1_Missense_Mutation_p.N144I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 144 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TAGGCGCGCATTGCGGTCTTC 0.567000 46 136 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140480514 140480514 + Missense_Mutation SNP A A G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr5:140480514A>G ENST00000231130.2 + 1 281 c.281A>G c.(280-282)gAg>gGg p.E94G AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 94 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGGGAGGAGCTATGCGGC 0.463000 10 153 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 20 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100915722 100915722 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr2:100915722C>T ENST00000393437.3 - 6 1966 c.1327G>A c.(1327-1329)Gat>Aat p.D443N LONRF2_ENST00000409647.1_Missense_Mutation_p.D200N NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 443 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TCAGTTACATCAAGCGAGAGC 0.418000 6 32 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67400532 67400532 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr11:67400532C>T ENST00000335385.3 - 5 679 c.592G>A c.(592-594)Gtg>Atg p.V198M NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 198 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 ACGAAGACCACGTGGAAACGG 0.567000 24 344 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 6 37 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95503832 95503832 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr8:95503832C>T ENST00000297591.5 - 22 5189 c.5114G>A c.(5113-5115)aGg>aAg p.R1705K KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1705 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TGTGAAAAACCTATTCTGACT 0.393000 6 118 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587270 179587270 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr2:179587270C>T ENST00000589042.1 - 77 22468 c.22244G>A c.(22243-22245)cGc>cAc p.R7415H TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7098H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6171H|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7098 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGAGTTGGCGCTCTGTAGG 0.378000 4 135 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750372 8750372 + Missense_Mutation SNP T T G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr8:8750372T>G ENST00000276282.6 - 1 783 c.197A>C c.(196-198)gAg>gCg p.E66A NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 66 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GTTCAGTGCCTCAATGTCCCC 0.746000 4 19 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 82 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278387 114278387 + Silent SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr4:114278387T>C ENST00000357077.4 + 38 8666 c.8613T>C c.(8611-8613)atT>atC p.I2871I ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.I2838I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2838 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATCTTCTATTCAAAAAACAG 0.373000 4 164 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 9 1 1 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 7 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152813393 152813393 + Silent SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:152813393C>T ENST00000370186.1 + 7 1343 c.1017C>T c.(1015-1017)ccC>ccT p.P339P ATP2B3_ENST00000370181.2_Silent_p.P339P|ATP2B3_ENST00000393842.1_Silent_p.P339P|ATP2B3_ENST00000359149.3_Silent_p.P353P|ATP2B3_ENST00000263519.4_Silent_p.P353P|ATP2B3_ENST00000349466.2_Silent_p.P353P Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 353 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAACGCACCCAAAAAGGAGA 0.592000 18 85 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27208913 27208913 + Missense_Mutation SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr17:27208913G>A ENST00000394906.2 - 10 1075 c.998C>T c.(997-999)aCg>aTg p.T333M FLOT2_ENST00000394908.4_Missense_Mutation_p.T278M|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.T278M Q14254 FLOT2_HUMAN flotillin 2 278 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CTCCTTGTCCGTACGCAGGAT 0.617000 4 146 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139291430 139291430 + Splice_Site SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr9:139291430G>A ENST00000298532.2 - 2 544 c.177_splice c.e2+1 p.S59_splice NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 59 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AACAGTTACCGAGATCGGGGG 0.567000 51 108 0 0 1 0 0 SF3A2 8175 broad.mit.edu 37 19 2247981 2247981 + Silent SNP A A C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr19:2247981A>C ENST00000221494.4 + 9 1249 c.831A>C c.(829-831)ccA>ccC p.P277P NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 277 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGGGACCACCCCAGCTAC 0.756000 4 5 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21327629 21327629 + Missense_Mutation SNP T T A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr12:21327629T>A ENST00000256958.2 + 4 441 c.345T>A c.(343-345)caT>caA p.H115Q NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 115 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CTTTGCCACATTTCTTCATGG 0.323000 21 32 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 713193 713193 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr9:713193G>A ENST00000382303.1 + 7 3079 c.2427G>A c.(2425-2427)gaG>gaA p.E809E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E651E|KANK1_ENST00000382297.2_Silent_p.E809E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 809 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AATCTCTGGAGAACCCCCAGC 0.572000 17 167 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2892078 2892078 + Missense_Mutation SNP C C G TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr6:2892078C>G ENST00000380698.4 - 6 801 c.712G>C c.(712-714)Gag>Cag p.E238Q NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 238 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GTGCTGAGCTCCACGCCGTCG 0.642000 4 142 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139768055 139768055 + Silent SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr8:139768055C>T ENST00000303045.6 - 19 2366 c.1920G>A c.(1918-1920)gcG>gcA p.A640A COL22A1_ENST00000435777.1_Silent_p.A640A NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 640 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGGTGGCCCCGCAGGTCCCA 0.547000 HNSCC(7;0.00092) 11 156 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 42 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76940500 76940500 + Splice_Site SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:76940500T>C ENST00000373344.5 - 8 809 c.e8-2 ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAAGCAATTCTATTAAAAGAA 0.294000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 5 31 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187326 6187326 + Missense_Mutation SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr19:6187326C>T ENST00000588304.1 + 12 1869 c.1423C>T c.(1423-1425)Ccc>Tcc p.P475S ACSBG2_ENST00000252669.5_Missense_Mutation_p.P525S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000586696.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P338S Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 525 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGAAAATGTGCCCCCCATTCC 0.483000 14 164 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 16 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100175 27100176 + Frame_Shift_Ins INS - - C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr1:27100175_27100176insC ENST00000324856.7 + 16 4342_4343 c.3971_3972insC c.(3970-3972)tccfs p.S1324fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.S1324fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.S941fs|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1324 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y1324fs*1(1)|p.Y1324*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTAGCCGCTACCCCCCgcagc 0.599 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 8 148 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 8 66 --- --- --- --- TBL1XR1 79718 broad.mit.edu 37 3 176782756 176782756 + Frame_Shift_Del DEL T T - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr3:176782756delT ENST00000430069.1 - 3 269 c.10delA c.(10-12)gcfs p.S5fs TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.S5fs Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 5 LisH. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TCATCACTGCTTATACTCATC 0.289 2 4 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 2 4 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 7 406 --- --- --- --- ATP11A 23250 broad.mit.edu 37 13 113487270 113487270 + Frame_Shift_Del DEL G G - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr13:113487270delG ENST00000487903.1 + 14 1580 c.1492delG c.(1492-1494)ggfs p.G499fs ATP11A_ENST00000283558.8_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375645.3_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375630.2_Frame_Shift_Del_p.G499fs P98196 AT11A_HUMAN ATPase, class VI, type 11A 499 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATCGCCGGACGGGGGGAAATC 0.622 7 497 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 2 4 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 4 --- --- --- --- FIZ1 84922 broad.mit.edu 37 19 56104856 56104856 + Frame_Shift_Del DEL A A - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr19:56104856delA ENST00000221665.3 - 3 540 c.451delT c.(451-453)gcfs p.C151fs FIZ1_ENST00000592585.1_3'UTR NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CAGACGGAGCAGGGCGCACTC 0.761 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 3 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76814303 76814306 + Frame_Shift_Del DEL ATAA ATAA - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:76814303_76814306delATAA ENST00000373344.5 - 29 6552_6555 c.6338_6341delTTAT c.(6337-6342)tcfs p.FI2113fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2113 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.F2113fs*9(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTAGAAATGATAAATAATCGTCC 0.289 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 12 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76909677 76909680 + Frame_Shift_Del DEL CTTT CTTT - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:76909677_76909680delCTTT ENST00000373344.5 - 14 4439_4442 c.4225_4228delAAAG c.(4225-4230)cafs p.KA1409fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.KA1371fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1409 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCCAACTCTGCTTTCTTTGCAGAC 0.319 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 48 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937770 76937770 + Frame_Shift_Del DEL T T - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:76937770delT ENST00000373344.5 - 9 3192 c.2978delA c.(2977-2979)agfs p.K994fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.K956fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 994 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGAAGGTTTCTTTTTTTCTTC 0.343 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 11 74 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 7 260 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9d4f9d8-787d-41b0-8f45-e9858ef6b281 0df99eaa-b248-47fe-a233-e9ed0f34d70a g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 6 12 --- --- --- ---