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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut WDR65 149465 broad.mit.edu 37 1 43650921 43650921 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:43650921T>C uc001cip.1 + 5 984 c.863T>C c.(862-864)ATT>ACT p.I288T EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.I277T|WDR65_uc001ciq.1_Missense_Mutation_p.I288T NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 288 skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGTTTGCCATTGCAGCCTAT 0.498 NA 53 89 0 0 0.00361 0 0 CD160 11126 broad.mit.edu 37 1 145699074 145699074 + Silent SNP T T A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:145699074T>A uc001eol.1 - 5 635 c.417A>T c.(415-417)ACA>ACT p.T139T NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Silent_p.T30T|CD160_uc010oyz.1_RNA NM_007053 NP_008984 O95971 BY55_HUMAN CD160 antigen precursor 139 cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ATCCCGTCACTGTGTAGTTCC 0.433 Colon(182;1122 1999 4065 44014 53024) NA 32 74 0 0 0.003271 0 0 OTUD7B 56957 broad.mit.edu 37 1 149936222 149936222 + Silent SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:149936222T>C uc001etn.2 - 6 1013 c.657A>G c.(655-657)GCA>GCG p.A219A OTUD7B_uc001eto.2_Silent_p.A140A NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 219 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TCTCCATCAGTGCATACAAAG 0.507 NA 83 119 0 0 0.00361 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460449 160460449 + Missense_Mutation SNP T T G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:160460449T>G uc001fwe.1 - 4 733 c.673A>C c.(673-675)AAA>CAA p.K225Q SLAMF6_uc001fwd.1_Missense_Mutation_p.K225Q|SLAMF6_uc010pjh.1_Missense_Mutation_p.K176Q|SLAMF6_uc010pji.1_Missense_Mutation_p.K114Q|SLAMF6_uc010pjj.1_Missense_Mutation_p.K114Q|SLAMF6_uc009wtm.1_3'UTR NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 225 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AGAATCATTTTGGTATCTGTA 0.383 NA 5 126 0 0 0.001168 0 0 FMO4 2329 broad.mit.edu 37 1 171303668 171303668 + Missense_Mutation SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:171303668A>T uc001gho.2 + 8 1163 c.946A>T c.(946-948)ACA>TCA p.T316S NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 316 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGAAGATGGGACAGTGGAAGA 0.383 Pancreas(24;816 862 7754 7993 32832) NA 78 107 0 0 0.00361 0 0 GLUL 2752 broad.mit.edu 37 1 182353654 182353654 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:182353654G>A uc001gpa.1 - 7 1220 c.1008C>T c.(1006-1008)TAC>TAT p.Y336Y GLUL_uc010pnt.1_Silent_p.Y123Y|GLUL_uc001gpb.1_Silent_p.Y336Y|GLUL_uc001gpc.1_Silent_p.Y336Y|GLUL_uc001gpd.1_Silent_p.Y336Y NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 336 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GATCTTCAAAGTAACCCTTCT 0.547 NA 5 82 0 0 0.000602 0 0 ZNF25 219749 broad.mit.edu 37 10 38241751 38241751 + Silent SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr10:38241751T>C uc001ize.1 - 6 780 c.675A>G c.(673-675)ACA>ACG p.T225T ZNF25_uc001izf.1_Silent_p.T189T NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GTTTCTCCCCTGTGTGTGTTT 0.423 NA 13 276 0 0 0.001855 0 0 LOC399815 399815 broad.mit.edu 37 10 124647809 124647809 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr10:124647809C>A uc001lgu.3 + 7 1076 c.178C>A c.(178-180)CTT>ATT p.L60I LOC399815_uc010qua.1_Missense_Mutation_p.L22I RecName: Full=Putative uncharacterized C10orf88-like protein; 0 TGAAGAGCAGCTTCAGTTGGT 0.378 NA 12 36 3.07112e-06 1.13745e-05 0.000978 1 0 LOC653544 653544 broad.mit.edu 37 10 135491085 135491085 + Silent SNP T T A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr10:135491085T>A uc010qvi.1 + 1 807 c.696T>A c.(694-696)GGT>GGA p.G232G NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 232 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCGGCGGGGGTCACCCTGCTC 0.741 NA 7 24 0 0 0.008291 0 0 ATM 472 broad.mit.edu 37 11 108236107 108236107 + Nonsense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr11:108236107G>T uc001pkb.1 + 63 9428 c.9043G>T c.(9043-9045)GAG>TAG p.E3015* ATM_uc009yxr.1_Nonsense_Mutation_p.E3015*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1667* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3015 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGACTACAAGAGAAACTGAA 0.423 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 48 33 5.13769e-22 2.11138e-21 0.00361 1 0 EXPH5 23086 broad.mit.edu 37 11 108383265 108383265 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr11:108383265T>C uc001pkk.2 - 6 3080 c.2969A>G c.(2968-2970)GAA>GGA p.E990G EXPH5_uc010rvy.1_Missense_Mutation_p.E802G|EXPH5_uc010rvz.1_Missense_Mutation_p.E834G|EXPH5_uc010rwa.1_Missense_Mutation_p.E914G NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 990 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGATATACTTTCTGTTTTGCT 0.363 NA 30 119 0 0 0.002836 0 0 KDM5A 5927 broad.mit.edu 37 12 442778 442778 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:442778C>A uc001qif.1 - 12 1891 c.1528G>T c.(1528-1530)GCT>TCT p.A510S KDM5A_uc001qie.1_Missense_Mutation_p.A510S|KDM5A_uc010sdn.1_Missense_Mutation_p.A469S|KDM5A_uc010sdo.1_Missense_Mutation_p.A129S NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 510 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TGCTCTGCAGCATGAGATGGC 0.378 NA T NUP98 AML 66 91 2.36135e-34 1.04177e-33 0.00361 1 0 CLEC9A 283420 broad.mit.edu 37 12 10213811 10213811 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:10213811G>T uc001qxa.2 + 6 871 c.258G>T c.(256-258)AAG>AAT p.K86N NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 86 Extracellular (Potential). positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 CAGAATGGAAGAGAAGCTGTG 0.408 NA 31 61 1.99505e-19 7.98021e-19 0.002445 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 12 0 0 0.001855 0 0 BICD1 636 broad.mit.edu 37 12 32491750 32491750 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:32491750C>G uc001rku.2 + 8 2682 c.2601C>G c.(2599-2601)AGC>AGG p.S867R BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 867 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GTGATCAGAGCCGTCCCAGGA 0.428 NA 97 294 0 0 0.00361 0 0 TC2N 123036 broad.mit.edu 37 14 92268648 92268648 + Nonsense_Mutation SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr14:92268648A>T uc001xzu.3 - 4 610 c.419T>A c.(418-420)TTG>TAG p.L140* TC2N_uc001xzt.3_Nonsense_Mutation_p.L140*|TC2N_uc010auc.2_Nonsense_Mutation_p.L140*|TC2N_uc001xzv.3_Nonsense_Mutation_p.L140* NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 140 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) GCGTCGACTCAAATCAGGTGA 0.418 NA 81 43 0 0 0.00361 0 0 RFX7 64864 broad.mit.edu 37 15 56387452 56387452 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr15:56387452C>A uc010bfn.2 - 9 2474 c.2474G>T c.(2473-2475)GGA>GTA p.G825V RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.G639V NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 728 regulation of transcription, DNA-dependent nucleus DNA binding 0 CTGTGGCATTCCTTCTAATTC 0.388 NA 73 96 1.96331e-54 9.06144e-54 0.00361 1 0 OR1F2P 26184 broad.mit.edu 37 16 3266071 3266071 + Missense_Mutation SNP A A G rs2550401 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr16:3266071A>G uc010uwv.1 + 1 510 c.362A>G c.(361-363)AAT>AGT p.N121S NR_002169 RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2; 0 GCCAACTCGAATGCTCTGCTG 0.562 NA 3 58 0 0 0.004672 0 0 BBS2 583 broad.mit.edu 37 16 56545113 56545113 + Silent SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr16:56545113A>G uc002ejd.2 - 3 663 c.429T>C c.(427-429)GCT>GCC p.A143A BBS2_uc010ccg.2_Silent_p.A143A NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 143 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 AACCTTGCAGAGCACAATTGC 0.398 NA Bardet-Biedl_syndrome 59 168 0 0 0.00361 0 0 MYH1 4619 broad.mit.edu 37 17 10412919 10412919 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr17:10412919C>A uc002gmo.2 - 15 1564 c.1470G>T c.(1468-1470)CAG>CAT p.Q490H uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 490 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GGTTGAAAAACTGTTGCAGTT 0.433 NA 75 85 3.48418e-26 1.47219e-25 0.00361 1 0 ZFP112 7771 broad.mit.edu 37 19 44847409 44847409 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr19:44847409G>A uc010ejj.2 - 2 125 c.12C>T c.(10-12)TTC>TTT p.F4F ZFP112_uc002ozc.3_Intron|ZFP112_uc010xwy.1_Silent_p.F21F|ZFP112_uc010xwz.1_Intron NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 4 KFQ -> VSK (in Ref. 1; AAF12816). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 AGCTCACCTGGAATTTGGTCA 0.403 Melanoma(53;975 1202 7512 15993 27273) NA 31 83 0 0 0.003271 0 0 ALMS1 7840 broad.mit.edu 37 2 73830395 73830395 + Missense_Mutation SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:73830395C>T uc002sje.1 + 23 12440 c.12329C>T c.(12328-12330)CCT>CTT p.P4110L ALMS1_uc002sjf.1_Missense_Mutation_p.P4066L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3496L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4108 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AAGAACAAGCCTATCAGCAAG 0.483 NA 13 23 0 0 0.004007 0 0 ALMS1 7840 broad.mit.edu 37 2 73830399 73830399 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:73830399C>G uc002sje.1 + 23 12444 c.12333C>G c.(12331-12333)ATC>ATG p.I4111M ALMS1_uc002sjf.1_Missense_Mutation_p.I4067M|ALMS1_uc002sjh.1_Missense_Mutation_p.I3497M NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4109 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACAAGCCTATCAGCAAGAAGG 0.488 NA 11 22 0 0 0.00245 0 0 REG1B 5968 broad.mit.edu 37 2 79314711 79314711 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:79314711G>T uc002sny.2 - 2 140 c.28C>A c.(28-30)CTG>ATG p.L10M REG1B_uc010ffv.1_Missense_Mutation_p.L10M|REG1B_uc010ffw.2_Missense_Mutation_p.L10M NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 10 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GAGGAGATCAGCATGAAGAAC 0.493 NA 23 24 2.44723e-14 9.41243e-14 0.004656 1 0 RANBP2 5903 broad.mit.edu 37 2 109381162 109381162 + Silent SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:109381162A>T uc002tem.3 + 20 4293 c.4167A>T c.(4165-4167)CCA>CCT p.P1389P NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1389 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TTGGCCCACCATTAGCTGAAA 0.408 NA 87 162 0 0 0.00361 0 0 OSBPL6 114880 broad.mit.edu 37 2 179247751 179247751 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:179247751T>C uc002ulx.2 + 17 2000 c.1622T>C c.(1621-1623)ATC>ACC p.I541T OSBPL6_uc002uly.2_Missense_Mutation_p.I566T|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510T|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505T|OSBPL6_uc002uma.2_Missense_Mutation_p.I545T NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 541 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTTCTTCCAGTCCTGAATGGG 0.453 NA 44 57 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179615912 179615912 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:179615912T>C uc002unb.2 - 46 11439 c.11215A>G c.(11215-11217)AAA>GAA p.K3739E TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 9587 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAATATCTTTATCACTAGCT 0.338 NA 33 126 0 0 0.001786 0 0 FRG1B 284802 broad.mit.edu 37 20 29624093 29624093 + Splice_Site SNP G G T rs75468660 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr20:29624093G>T uc010ztl.1 + 1 58 c.26_splice c.e1+1 p.R9_splice FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 CTGATTCCAGGTGAGCTTATG 0.289 NA 3 33 8.12818e-05 0.000290292 0.001984 1 0 BPI 671 broad.mit.edu 37 20 36952397 36952397 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr20:36952397G>A uc002xib.2 + 8 956 c.894G>A c.(892-894)GGG>GGA p.G298G NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 298 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) ACACAGCCGGGCTTGTATACC 0.557 NA 30 33 0 0 0.002836 0 0 GNAS 2778 broad.mit.edu 37 20 57428785 57428785 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr20:57428785C>G uc002xzw.2 + 1 750 c.465C>G c.(463-465)AGC>AGG p.S155R GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GAGGATACAGCCCTCCACCAG 0.612 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 12 16 0 0 0.001855 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19642327 19642327 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr21:19642327C>A uc002ykw.2 - 25 3050 c.3019G>T c.(3019-3021)GTC>TTC p.V1007F NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 1007 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AACCTTGAGACCCTGGCATAC 0.433 NA 5 100 0.000602214 0.00212546 0.000602 1 0 BAP1 8314 broad.mit.edu 37 3 52441235 52441235 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:52441235G>A uc003ddx.2 - 7 650 c.535C>T c.(535-537)CGG>TGG p.R179W BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 179 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TCAAAGAGCCGGCCTGTGATA 0.597 GBM(101;493 1458 7992 21037 25532) NA N|Mis|F|S|O uveal melanoma|breast|NSCLC 31 31 0 0 0.004878 0 0 SENP7 57337 broad.mit.edu 37 3 101050843 101050843 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:101050843T>C uc003dut.2 - 19 2795 c.2684A>G c.(2683-2685)GAC>GGC p.D895G SENP7_uc003duu.2_Missense_Mutation_p.D830G|SENP7_uc003duv.2_Missense_Mutation_p.D862G|SENP7_uc003duw.2_Missense_Mutation_p.D829G|SENP7_uc003dux.2_Missense_Mutation_p.D731G|SENP7_uc003dus.2_Missense_Mutation_p.D83G NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 895 Protease. proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TGTTTTGTTGTCATTTTGGGA 0.373 NA 11 189 0 0 0.001368 0 0 CASR 846 broad.mit.edu 37 3 122002536 122002536 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:122002536G>A uc003eev.3 + 7 2107 c.1735G>A c.(1735-1737)GCC>ACC p.A579T CASR_uc003eew.3_Missense_Mutation_p.A589T NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 579 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTTTACAGATGCCAGTGCCTG 0.473 NA 12 65 0 0 0.001368 0 0 CPB1 1360 broad.mit.edu 37 3 148562468 148562468 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:148562468G>A uc003ewl.2 + 8 715 c.692G>A c.(691-693)CGA>CAA p.R231Q NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 231 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTCAGAGCCGATTTTGGAGA 0.443 NA 64 34 0 0 0.00361 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198379 170198379 + Silent SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:170198379C>A uc003fgz.2 - 7 2008 c.1692G>T c.(1690-1692)ACG>ACT p.T564T CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 564 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGATGGTCACCGTGTGCCCCG 0.532 NA 61 22 2.18419e-29 9.4965e-29 0.00361 1 0 SDHAP2 727956 broad.mit.edu 37 3 195400795 195400795 + Missense_Mutation SNP C C T rs7615357 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:195400795C>T uc003fuw.2 + 9 1285 c.91C>T c.(91-93)CGC>TGC p.R31C SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GGGGCAAACTCGCTGTTGGAC 0.592 NA 4 58 0 0 0.001168 0 0 EIF4E 1977 broad.mit.edu 37 4 99802265 99802265 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:99802265G>A uc003hue.2 - 7 2091 c.568C>T c.(568-570)CCT>TCT p.P190S EIF4E_uc011cea.1_Missense_Mutation_p.P210S|EIF4E_uc011ceb.1_Missense_Mutation_p.P221S NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 190 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) ATCTTTGGAGGAAGTCCTAAC 0.358 NA 18 46 0 0 0.004656 0 0 LARP1B 55132 broad.mit.edu 37 4 129043234 129043234 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:129043234C>G uc003iga.2 + 11 1546 c.1415C>G c.(1414-1416)TCT>TGT p.S472C LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.S472C|LARP1B_uc003igb.1_Missense_Mutation_p.S187C NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 472 RNA binding 0 ACCCACATGTCTCGGGCAAAA 0.378 NA 24 143 0 0 0.003954 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504477 151504477 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:151504477T>C uc003ilw.2 + 1 1401 c.296T>C c.(295-297)GTG>GCG p.V99A LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 99 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GGCTGCGCAGTGCTCAAACTG 0.597 NA 18 76 0 0 0.007413 0 0 FBXL7 23194 broad.mit.edu 37 5 15928027 15928027 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:15928027C>A uc003jfn.1 + 3 637 c.156C>A c.(154-156)AGC>AGA p.S52R NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 52 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GCACACTGAGCACGCCCAGCC 0.587 NA 25 95 2.41591e-17 9.53649e-17 0.004656 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33616058 33616058 + Nonsense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:33616058C>A uc003jia.1 - 15 2426 c.2263G>T c.(2263-2265)GGA>TGA p.G755* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.G670* NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 755 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ATAAACCCTCCATTCAGGTAA 0.468 NA HNSCC(64;0.19) 69 125 1.07363e-35 4.8073e-35 0.00361 1 0 OXCT1 5019 broad.mit.edu 37 5 41805723 41805723 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:41805723C>A uc003jmn.2 - 9 1232 c.901G>T c.(901-903)GTA>TTA p.V301L NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 301 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) CGTTCCCTTACGTCATCTCCA 0.438 NA 53 110 1.74971e-23 7.29046e-23 0.00361 1 0 TRIM23 373 broad.mit.edu 37 5 64890374 64890374 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:64890374G>C uc003jty.2 - 10 1605 c.1519C>G c.(1519-1521)CTG>GTG p.L507V TRIM23_uc003jtw.2_Missense_Mutation_p.L507V|TRIM23_uc003jtx.2_Missense_Mutation_p.L507V NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 507 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATCAGGAGCAGAGCATCTCGG 0.358 NA 57 100 0 0 0.00361 0 0 CARTPT 9607 broad.mit.edu 37 5 71016433 71016433 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:71016433G>C uc003kbv.1 + 3 469 c.342G>C c.(340-342)AAG>AAC p.K114N NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 114 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) TCCTCCTGAAGTGCTTATGAA 0.557 NA 7 14 0 0 0.00308 0 0 CAMK4 814 broad.mit.edu 37 5 110814095 110814095 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:110814095C>G uc011cvj.1 + 10 817 c.718C>G c.(718-720)CCA>GCA p.P240A CAMK4_uc003kpf.2_Missense_Mutation_p.P240A|CAMK4_uc010jbv.2_Missense_Mutation_p.P43A NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 240 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TGGATTTGAACCATTCTATGA 0.343 NA 10 195 0 0 0.001368 0 0 DTWD2 285605 broad.mit.edu 37 5 118183901 118183901 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:118183901T>C uc003ksa.2 - 5 644 c.610A>G c.(610-612)ACT>GCT p.T204A NM_173666 NP_775937 Q8NBA8 DTWD2_HUMAN DTW domain containing 2 204 0 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) GAAATGCTAGTTTTTAATTGC 0.303 NA 11 59 0 0 0.00245 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207997 140207997 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:140207997G>T uc003lho.2 + 1 348 c.321G>T c.(319-321)GAG>GAT p.E107D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E107D|PCDHA6_uc011dab.1_Missense_Mutation_p.E107D NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 107 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACCTGGAGGTGATCGTGG 0.567 NA 94 159 1.6041e-38 7.29135e-38 0.00361 1 0 GABRA6 2559 broad.mit.edu 37 5 161112996 161112996 + Missense_Mutation SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:161112996A>G uc003lyu.2 + 1 339 c.1A>G c.(1-3)ATG>GTG p.M1V NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 1 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCACTGCAGGATGGCGTCGTC 0.463 NA TCGA Ovarian(5;0.080) 11 125 0 0 0.001368 0 0 SMAP1 60682 broad.mit.edu 37 6 71566660 71566660 + Silent SNP A A C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:71566660A>C uc003pfr.2 + 9 1136 c.888A>C c.(886-888)GCA>GCC p.A296A SMAP1_uc003pfs.2_Silent_p.A269A|SMAP1_uc010kao.2_Silent_p.A269A|SMAP1_uc010kap.2_Silent_p.A286A NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 296 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 AAGAAGTGGCAAAGAAACAAC 0.428 NA 4 167 0 0 0.000602 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113394 117113394 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:117113394G>T uc003pxj.1 - 6 2714 c.2692C>A c.(2692-2694)CTT>ATT p.L898I GPRC6A_uc003pxk.1_Missense_Mutation_p.L723I|GPRC6A_uc003pxl.1_Missense_Mutation_p.L827I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 898 Cytoplasmic (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTGCCTGAAGATCTTTGCTT 0.453 NA 8 222 2.17888e-05 7.87546e-05 0.006214 1 0 TAAR8 83551 broad.mit.edu 37 6 132874425 132874425 + Silent SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:132874425G>T uc011ecj.1 + 1 594 c.594G>T c.(592-594)GTG>GTT p.V198V NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 198 Helical; Name=5; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) AAGGCTGGGTGTTGATAGATT 0.358 NA 24 93 6.21321e-17 2.42073e-16 0.00278 1 0 PEX3 8504 broad.mit.edu 37 6 143792568 143792568 + Nonsense_Mutation SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:143792568C>T uc003qjl.2 + 6 767 c.505C>T c.(505-507)CAG>TAG p.Q169* PEX3_uc011edx.1_Nonsense_Mutation_p.Q169* NM_003630 NP_003621 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 169 Cytoplasmic (Potential). protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) ATCAAGTATTCAGCACCTACT 0.284 NA 12 160 0 0 0.001855 0 0 HECW1 23072 broad.mit.edu 37 7 43484237 43484237 + Missense_Mutation SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr7:43484237A>G uc003tid.1 + 11 2071 c.1466A>G c.(1465-1467)GAG>GGG p.E489G HECW1_uc011kbi.1_Missense_Mutation_p.E489G NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 489 Glu-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CCCTTGGAGGAGGAAGCAACG 0.542 NA 12 13 0 0 0.001368 0 0 EPHB6 2051 broad.mit.edu 37 7 142564781 142564781 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr7:142564781G>T uc011kst.1 + 11 2492 c.1705G>T c.(1705-1707)GGC>TGC p.G569C EPHB6_uc011ksu.1_Missense_Mutation_p.G569C|EPHB6_uc003wbs.2_Missense_Mutation_p.G277C|EPHB6_uc003wbt.2_Missense_Mutation_p.G43C|EPHB6_uc003wbu.2_Missense_Mutation_p.G277C|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 569 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TGCCGGCCACGGCCCCTACGG 0.627 NA 11 49 4.36969e-10 1.63863e-09 0.001855 1 0 FAM110B 90362 broad.mit.edu 37 8 59059695 59059695 + Silent SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:59059695C>T uc003xtj.1 + 5 1786 c.906C>T c.(904-906)GAC>GAT p.D302D NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 302 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CTAATTCTGACATAATATCCC 0.493 NA 7 127 0 0 0.001984 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813793 106813793 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:106813793G>T uc003ymd.2 + 8 1506 c.1483G>T c.(1483-1485)GGC>TGC p.G495C ZFPM2_uc011lhs.1_Missense_Mutation_p.G226C NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 495 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTTCCCTGTGGGCCCTTTCCT 0.458 NA 50 306 4.1673e-28 1.78599e-27 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113649131 113649131 + Silent SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:113649131C>T uc003ynu.2 - 22 3789 c.3630G>A c.(3628-3630)TCG>TCA p.S1210S CSMD3_uc003yns.2_Silent_p.S482S|CSMD3_uc003ynt.2_Silent_p.S1170S|CSMD3_uc011lhx.1_Silent_p.S1106S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1210 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane p.S1210L(1) ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTCGATAACCCGAAGAGCATG 0.507 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 223 0 0 0.005443 0 0 TATDN1 83940 broad.mit.edu 37 8 125534428 125534428 + Silent SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:125534428A>G uc003yrd.2 - 3 144 c.102T>C c.(100-102)GAT>GAC p.D34D TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Intron|TATDN1_uc003yrf.2_Silent_p.D34D NM_032026 NP_114415 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 isoform a 34 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TCCCTATTACATCCTGTAAGT 0.264 NA 7 182 0 0 0.00308 0 0 CNTLN 54875 broad.mit.edu 37 9 17298270 17298270 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:17298270C>G uc003zmz.2 + 7 1092 c.1066C>G c.(1066-1068)CAG>GAG p.Q356E CNTLN_uc003zmx.3_Missense_Mutation_p.Q356E|CNTLN_uc003zmy.2_Missense_Mutation_p.Q356E|CNTLN_uc010mio.2_Missense_Mutation_p.Q35E NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 356 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CCAGCAGCTTCAGGTTCTCAA 0.403 NA 42 22 0 0 0.002522 0 0 OR13F1 138805 broad.mit.edu 37 9 107266550 107266550 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:107266550C>A uc011lvm.1 + 1 7 c.7C>A c.(7-9)CCG>ACG p.P3T NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 AAAAATGTTCCCGGCAAATTG 0.383 NA 33 48 1.04352e-10 3.96272e-10 0.003755 1 0 NUP214 8021 broad.mit.edu 37 9 134015959 134015959 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:134015959G>C uc004cag.2 + 11 1267 c.1156G>C c.(1156-1158)GCT>CCT p.A386P NUP214_uc004cah.2_Missense_Mutation_p.A386P|NUP214_uc004caf.1_Missense_Mutation_p.A386P NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 386 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCTTCCTCCTGCTCCAGTTCT 0.393 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 11 164 0 0 0.001855 0 0 TAZ 6901 broad.mit.edu 37 X 153648424 153648424 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chrX:153648424T>C uc004fkx.2 + 8 941 c.637T>C c.(637-639)TGG>CGG p.W213R TAZ_uc004fky.2_Missense_Mutation_p.W199R|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.W183R|TAZ_uc004flb.2_Missense_Mutation_p.W169R|TAZ_uc010nuy.2_Missense_Mutation_p.W217R|TAZ_uc004flc.3_Missense_Mutation_p.W144R NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 213 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGCCCCTGTGGCATGTCGG 0.642 NA 7 115 0 0 0.00308 0 0 RNF139 11236 broad.mit.edu 37 8 125499067 125499084 + In_Frame_Del DEL CTGTTTGTCTCTGCTTGC CTGTTTGTCTCTGCTTGC - rs142948801 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 CTGTTTGTCTCTGCTTGC CTGTTTGTCTCTGCTTGC - - CTGTTTGTCTCTGCTTGC CTGTTTGTCTCTGCTTGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC uc003yrc.2 + 2 1520_1537 c.1177_1194delCTGTTTGTCTCTGCTTGC c.(1177-1194)CTGTTTGTCTCTGCTTGCdel p.LFVSAC393del NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 393_398 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTTCCTGTGCTGTTTGTCTCTGCTTGCCTGTTTATTC 0.404 NA Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 219 576 --- --- --- --- NA NA NA NA NA