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 STX12 23673 broad.mit.edu 37 1 28148801 28148801 + Missense_Mutation SNP C C G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr1:28148801C>G uc001bou.3 + 9 917 c.792C>G c.(790-792)ATC>ATG p.I264M NM_177424 NP_803173 Q86Y82 STX12_HUMAN syntaxin 12 264 Helical; Anchor for type IV membrane protein; (Potential). cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) TTATTCTAATCTTGGGACTTA 0.403 Ovarian(5;5 342 2097 9488 34083) NA 13 45 0 0 0.013537 0 0 PGM1 5236 broad.mit.edu 37 1 64097453 64097453 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr1:64097453G>A uc001dbh.2 + 4 895 c.682G>A c.(682-684)GTT>ATT p.V228I PGM1_uc010ooy.1_Missense_Mutation_p.V31I|PGM1_uc010ooz.1_Missense_Mutation_p.V246I NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 228 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 TATGCATGGAGGTATACAATC 0.408 NA 3 51 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359169 145359169 + Missense_Mutation SNP T T A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr1:145359169T>A uc001end.3 + 74 9369 c.9334T>A c.(9334-9336)TTG>ATG p.L3112M NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3037 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCGTGTTGGCTTGGCTGTTGA 0.458 NA 6 279 0 0 0.001168 0 0 KIF11 3832 broad.mit.edu 37 10 94368781 94368781 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr10:94368781C>T uc001kic.2 + 5 700 c.392C>T c.(391-393)CCC>CTC p.P131L KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 131 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 TTTCAGGATCCCTTGGCTGGT 0.328 Colon(47;212 1003 2764 4062 8431) NA 8 12 0 0 0.00308 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360598 118360598 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr10:118360598G>A uc001lco.1 + 10 966 c.948G>A c.(946-948)CCG>CCA p.P316P PNLIPRP1_uc001lcp.2_Silent_p.P316P NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 316 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AGTGCTTCCCGTGTCCAGATC 0.398 NA 16 40 0 0 0.007413 0 0 DPF2 5977 broad.mit.edu 37 11 65116348 65116348 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr11:65116348G>A uc001odm.2 + 10 1057 c.1045G>A c.(1045-1047)GAT>AAT p.D349N DPF2_uc001odn.2_Missense_Mutation_p.D363N|DPF2_uc010roe.1_Missense_Mutation_p.D165N NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 349 PHD-type 2. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TGATGACTGCGATCGTGGCTA 0.488 NA 10 42 0 0 0.006214 0 0 EFEMP2 30008 broad.mit.edu 37 11 65636001 65636001 + Missense_Mutation SNP A A G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr11:65636001A>G uc001ofy.3 - 8 1021 c.827T>C c.(826-828)CTG>CCG p.L276P EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.L276P NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 276 EGF-like 5; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GCGTGTGGCCAGCAGCTGGTA 0.627 NA 5 33 0 0 0.004482 0 0 PRB1 5542 broad.mit.edu 37 12 11506399 11506399 + Missense_Mutation SNP T T C rs111543911 TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr12:11506399T>C uc001qzw.1 - 4 675 c.638A>G c.(637-639)CAA>CGA p.Q213R PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 274 11.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5). Q -> R (in Ref. 5; CAA30395). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATTGGGAACTTCG 0.612 NA 5 38 0 0 0.006214 0 0 C14orf43 91748 broad.mit.edu 37 14 74203721 74203721 + Missense_Mutation SNP C C T rs150626971 TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr14:74203721C>T uc001xot.2 - 3 2512 c.1729G>A c.(1729-1731)GGG>AGG p.G577R C14orf43_uc001xou.2_Missense_Mutation_p.G577R|C14orf43_uc010tud.1_Missense_Mutation_p.G577R|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GCATCTGTCCCGGGGATTCGG 0.607 NA 4 41 0 0 0.014758 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74551056 74551056 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr14:74551056G>A uc001xpo.2 - 1 141 c.42C>T c.(40-42)ATC>ATT p.I14I LIN52_uc001xpp.2_5'Flank|LIN52_uc010asb.2_5'Flank|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.I14I NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 14 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TCGCCTGCAGGATCCGGGCTC 0.667 NA 4 36 0 0 0.009096 0 0 C15orf52 388115 broad.mit.edu 37 15 40628778 40628778 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr15:40628778C>T uc001zlh.3 - 9 1032 c.1016G>A c.(1015-1017)CGA>CAA p.R339Q C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.R129Q NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 339 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTGTTACCTTCGGGCCCTGCC 0.652 NA 7 53 0 0 0.00308 0 0 TEKT3 64518 broad.mit.edu 37 17 15234676 15234676 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr17:15234676G>A uc002gon.2 - 3 414 c.227C>T c.(226-228)TCC>TTC p.S76F NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 76 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGTATTCTCGGACACCCTCTG 0.502 NA 5 72 0 0 0.014758 0 0 SSTR2 6752 broad.mit.edu 37 17 71165803 71165803 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr17:71165803C>T uc002jje.2 + 2 705 c.345C>T c.(343-345)TGC>TGT p.C115C NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 115 Extracellular (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) AGGCCATTTGCCGGGTGGTCA 0.562 NA 9 39 0 0 0.004482 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891825 2891825 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr18:2891825C>T uc002kln.2 + 4 1859 c.1700C>T c.(1699-1701)GCC>GTC p.A567V NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 567 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) ATGGAAGGTGCCTTGCCAAAC 0.493 NA 5 45 0 0 0.014758 0 0 PSG8 440533 broad.mit.edu 37 19 43268115 43268115 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr19:43268115C>T uc002ouo.2 - 2 481 c.383G>A c.(382-384)GGT>GAT p.G128D PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.G128D|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Missense_Mutation_p.G3D|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.G128D|PSG8_uc002oum.3_Missense_Mutation_p.G128D|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G128D NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 128 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) ATTCTCATCACCTCCCATTAT 0.468 NA 22 224 0 0 0.014323 0 0 PSG4 5672 broad.mit.edu 37 19 43699308 43699308 + Missense_Mutation SNP T T C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr19:43699308T>C uc002ovy.2 - 4 929 c.827A>G c.(826-828)AAT>AGT p.N276S PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.N183S|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 276 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) GCTCTGACCATTTAGCCACCA 0.433 NA 10 165 0 0 0.01892 0 0 WDR69 164781 broad.mit.edu 37 2 228762934 228762934 + Silent SNP T T C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr2:228762934T>C uc002vpn.1 + 6 556 c.477T>C c.(475-477)TGT>TGC p.C159C WDR69_uc010zlw.1_Silent_p.C144C|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 159 WD 2. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) ATAAAACTTGTAAACTCTGGA 0.279 NA 5 25 0 0 0.001168 0 0 FAM83C 128876 broad.mit.edu 37 20 33874757 33874757 + Missense_Mutation SNP G G T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr20:33874757G>T uc010zux.1 - 4 1943 c.1825C>A c.(1825-1827)CCC>ACC p.P609T EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P264T NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 609 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTTTCAAGGGGCACTCTGGAA 0.622 NA 15 32 9.16793e-09 2.3394e-08 0.00499 1 0 SRGAP3 9901 broad.mit.edu 37 3 9036109 9036109 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:9036109G>A uc003brf.1 - 19 3002 c.2326C>T c.(2326-2328)CGC>TGC p.R776C SRGAP3_uc003brg.1_Missense_Mutation_p.R752C NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 776 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCGAGGCGCGGTGGTACAGG 0.587 NA T RAF1 pilocytic astrocytoma 10 55 0 0 0.006214 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307442 38307442 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:38307442C>T uc003chz.3 + 1 145 c.91C>T c.(91-93)CTG>TTG p.L31L SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Silent_p.L31L NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 31 Helical; (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TCTCAACTTCCTGTCTCCCTT 0.498 NA 7 34 0 0 0.001984 0 0 PRDM9 56979 broad.mit.edu 37 5 23527795 23527795 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr5:23527795G>A uc003jgo.2 + 11 2780 c.2598G>A c.(2596-2598)GGG>GGA p.G866G NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 866 C2H2-type 14. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGAGTGTGGGCGGGGCTTTA 0.562 NA HNSCC(3;0.000094) 17 88 0 0 0.008871 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937403 82937403 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr5:82937403C>T uc003kim.2 - 4 1048 c.977G>A c.(976-978)AGT>AAT p.S326N HAPLN1_uc003kin.2_Missense_Mutation_p.S326N NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 326 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CTCAGTAGGACTGCAGCGCCT 0.537 NA 34 105 0 0 0.010818 0 0 DNAH8 1769 broad.mit.edu 37 6 38998146 38998146 + Missense_Mutation SNP C C A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:38998146C>A uc003ooe.1 + 91 14051 c.13451C>A c.(13450-13452)GCC>GAC p.A4484D NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGAGGAGTGGCCCTTTTGTGT 0.478 NA 4 42 1.024e-07 2.52587e-07 0.014758 1 0 SLC22A1 6580 broad.mit.edu 37 6 160575836 160575836 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:160575836C>T uc003qtc.2 + 9 1497 c.1392C>T c.(1390-1392)CTC>CTT p.L464L SLC22A1_uc003qtd.2_Intron NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 464 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCAGGAACCTCGGAGTGATGG 0.438 NA 6 21 0 0 0.001168 0 0 CYP3A4 1576 broad.mit.edu 37 7 99359829 99359829 + Missense_Mutation SNP G G A rs67784355 byFrequency TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr7:99359829G>A uc003urv.1 - 11 1192 c.1088C>T c.(1087-1089)ACG>ATG p.T363M CYP3A4_uc003urw.1_Missense_Mutation_p.T362M|CYP3A4_uc011kiz.1_Missense_Mutation_p.T322M|CYP3A4_uc011kja.1_Missense_Mutation_p.T314M|CYP3A4_uc011kjb.1_Missense_Mutation_p.T213M NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 363 T -> M (in allele CYP3A4*11; unstable form). alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TAATCTGAGCGTTTCATTCAC 0.418 NA 6 37 0 0 0.001168 0 0 ACER2 340485 broad.mit.edu 37 9 19424785 19424785 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr9:19424785C>T uc003zny.1 + 3 469 c.311C>T c.(310-312)GCT>GTT p.A104V ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.A55V NM_001010887 NP_001010887 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 104 Helical; (Potential). ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 CTGATGTGTGCTTTGGCCATG 0.438 NA 9 52 0 0 0.004482 0 0 SETD2 29072 broad.mit.edu 37 3 47125651 47125651 + Frame_Shift_Del DEL G G - TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:47125651delG uc003cqs.2 - 12 5672 c.5619delC c.(5617-5619)CCCfs p.P1873fs SETD2_uc003cqv.2_Frame_Shift_Del_p.P1940fs|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1873 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.L1873fs*50(1) kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAGTTTCTTGGGAGTGTCTG 0.453 NA N|F|S|Mis clear cell renal carcinoma 12 73 --- --- --- --- NA NA NA NA NA SETD2 29072 broad.mit.edu 37 3 47155477 47155478 + Frame_Shift_Del DEL TT TT - TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:47155477_47155478delTT uc003cqs.2 - 5 4656_4657 c.4603_4604delAA c.(4603-4605)AATfs p.N1535fs SETD2_uc003cqv.2_Frame_Shift_Del_p.N1524fs NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1535 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATAATCCCCATTTGGACACCGA 0.376 NA N|F|S|Mis clear cell renal carcinoma 11 68 --- --- --- --- NA NA NA NA NA MED23 9439 broad.mit.edu 37 6 131919786 131919787 + Frame_Shift_Ins INS - - G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:131919786_131919787insG uc003qcs.1 - 19 2509_2510 c.2335_2336insC c.(2335-2337)CACfs p.H779fs MED23_uc003qcq.2_Frame_Shift_Ins_p.H785fs|MED23_uc011eca.1_Frame_Shift_Ins_p.H420fs|MED23_uc003qct.1_Frame_Shift_Ins_p.H785fs NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 779 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CATAGAGAAGTGGGTAATAATG 0.396 NA 7 26 --- --- --- --- NA NA NA NA NA