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 ATAD3B 83858 broad.mit.edu 37 1 1412655 1412655 + Silent SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:1412655T>C uc001afv.2 + 2 308 c.207T>C c.(205-207)CGT>CGC p.R69R ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 69 Potential. ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGCCCGCAGGTTACGCCAAGG 0.463 NA 9 20 0 0 0.047766 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 4 54 0 0 0.038147 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52703522 52703522 + Nonsense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:52703522G>T uc001cto.2 + 4 605 c.433G>T c.(433-435)GAG>TAG p.E145* ZFYVE9_uc001ctn.2_Nonsense_Mutation_p.E145*|ZFYVE9_uc001ctp.2_Nonsense_Mutation_p.E145* NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 145 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TCTGCCAGATGAGAAGAATGT 0.368 NA 31 39 1.30897e-18 1.52457e-18 0.041601 1 0 HSD3B1 3283 broad.mit.edu 37 1 120050242 120050242 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:120050242C>T uc001ehv.1 + 2 288 c.143C>T c.(142-144)TCT>TTT p.S48F HSD3B1_uc001ehw.2_Missense_Mutation_p.S50F NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 48 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GAGGAATTTTCTAGTAAGTAA 0.473 NA 48 165 0 0 0.048971 0 0 SETDB1 9869 broad.mit.edu 37 1 150916440 150916440 + Missense_Mutation SNP A A T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:150916440A>T uc001evu.2 + 8 1110 c.920A>T c.(919-921)CAG>CTG p.Q307L SETDB1_uc009wmf.2_Missense_Mutation_p.Q307L|SETDB1_uc001evv.2_Missense_Mutation_p.Q307L|SETDB1_uc001evw.3_Missense_Mutation_p.Q307L|SETDB1_uc009wmg.1_Missense_Mutation_p.Q307L NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 307 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TATGTCACACAGTCGGAACTG 0.413 NA 16 161 0 0 0.069288 0 0 ADCY10 55811 broad.mit.edu 37 1 167815048 167815048 + Silent SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:167815048C>G uc001ger.2 - 21 3058 c.2760G>C c.(2758-2760)GTG>GTC p.V920V ADCY10_uc009wvk.2_Silent_p.V828V|ADCY10_uc010plj.1_Silent_p.V767V|ADCY10_uc009wvl.2_Silent_p.V919V NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 920 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GGCACTCGATCACCTCATTCT 0.502 NA 10 107 0 0 0.058154 0 0 XCL2 6846 broad.mit.edu 37 1 168510221 168510221 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:168510221G>A uc001gfn.3 - 3 347 c.314C>T c.(313-315)TCG>TTG p.S105L NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 105 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) TGTATTGGTCGATTGCTGGGT 0.532 NA 7 69 0 0 0.02938 0 0 C1orf112 55732 broad.mit.edu 37 1 169816906 169816906 + Missense_Mutation SNP T T G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:169816906T>G uc001ggp.2 + 21 2330 c.2020T>G c.(2020-2022)TCT>GCT p.S674A C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.S674A|C1orf112_uc009wvt.2_Missense_Mutation_p.S351A|C1orf112_uc009wvu.1_Missense_Mutation_p.S550A|C1orf112_uc001ggr.2_Missense_Mutation_p.S539A|C1orf112_uc010plv.1_Missense_Mutation_p.S616A NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 674 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGATTTTGTATCTTCTTTAGG 0.343 NA 6 236 0 0 0.02938 0 0 BTG2 7832 broad.mit.edu 37 1 203276285 203276285 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:203276285C>G uc001gzq.2 + 2 267 c.196C>G c.(196-198)CGC>GGC p.R66G FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 66 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) CTCCGGCTACCGCTGCATTCG 0.612 NA 13 44 0 0 0.09319 0 0 ESRRG 2104 broad.mit.edu 37 1 216824404 216824404 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:216824404G>A uc001hkw.1 - 3 666 c.500C>T c.(499-501)ACG>ATG p.T167M ESRRG_uc001hky.1_Missense_Mutation_p.T144M|ESRRG_uc009xdp.1_Missense_Mutation_p.T144M|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.T144M|ESRRG_uc001hla.1_Missense_Mutation_p.T144M|ESRRG_uc001hlb.1_Missense_Mutation_p.T144M|ESRRG_uc010pud.1_Translation_Start_Site|ESRRG_uc001hlc.1_Missense_Mutation_p.T144M|ESRRG_uc001hld.1_Missense_Mutation_p.T144M|ESRRG_uc001hkx.1_Missense_Mutation_p.T172M|ESRRG_uc009xdo.1_Missense_Mutation_p.T144M|ESRRG_uc001hle.1_Missense_Mutation_p.T144M NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 167 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACATTCATTCGTGGCAGGGCA 0.418 NA 29 103 0 0 0.041601 0 0 ENAH 55740 broad.mit.edu 37 1 225702299 225702299 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr1:225702299C>T uc001hpc.1 - 7 1670 c.1217G>A c.(1216-1218)CGG>CAG p.R406Q ENAH_uc001hpd.1_Missense_Mutation_p.R406Q|ENAH_uc001hpb.1_Missense_Mutation_p.R25Q NM_001008493 NP_001008493 Q8N8S7 ENAH_HUMAN enabled homolog isoform a 406 EVH2.|EVH2 block A. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding ovary(1)|skin(1) 2 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) GGTATTTACCCGTGACACTTT 0.323 NA 18 114 0 0 0.0333 0 0 PPRC1 23082 broad.mit.edu 37 10 103901711 103901711 + Missense_Mutation SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:103901711C>A uc001kum.2 + 5 3485 c.3446C>A c.(3445-3447)CCA>CAA p.P1149Q PPRC1_uc001kun.2_Missense_Mutation_p.P1029Q|PPRC1_uc010qqj.1_Missense_Mutation_p.P1149Q|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CTGCCTACCCCACGTACTCAG 0.572 NA 7 29 4.68919e-08 5.15811e-08 0.069234 1 0 TACC2 10579 broad.mit.edu 37 10 123970013 123970013 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr10:123970013G>A uc001lfv.2 + 9 6433 c.6073G>A c.(6073-6075)GAT>AAT p.D2025N TACC2_uc001lfw.2_Missense_Mutation_p.D171N|TACC2_uc009xzx.2_Missense_Mutation_p.D1980N|TACC2_uc010qtv.1_Missense_Mutation_p.D2029N|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.D103N|TACC2_uc001lga.2_Missense_Mutation_p.D103N|TACC2_uc009xzy.2_Missense_Mutation_p.D103N|TACC2_uc001lgb.2_Missense_Mutation_p.D60N|TACC2_uc010qtw.1_Missense_Mutation_p.D120N NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2025 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCCGTCTTCGATGAAGACAA 0.552 NA 4 26 0 0 0.009096 0 0 RIC8A 60626 broad.mit.edu 37 11 211339 211339 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:211339G>A uc001log.2 + 5 1284 c.959G>A c.(958-960)CGT>CAT p.R320H RIC8A_uc001lof.2_Missense_Mutation_p.R320H|RIC8A_uc001loh.2_Missense_Mutation_p.R313H NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 320 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTAGAGAAGCGTTTGCACAAG 0.562 NA 3 32 0 0 0.004672 0 0 MUC5B 727897 broad.mit.edu 37 11 1278885 1278885 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:1278885C>T uc009ycr.1 + 63 17532 c.17406C>T c.(17404-17406)TTC>TTT p.F5802F MUC5B_uc001ltb.2_Silent_p.F5468F NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5465 VWFC 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCCGGCTTCGTAACCGTGA 0.697 NA 3 4 0 0 0.004672 0 0 IGSF22 283284 broad.mit.edu 37 11 18737204 18737204 + Missense_Mutation SNP C C T rs142049851 by1000genomes TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:18737204C>T uc009yht.2 - 11 1496 c.1306G>A c.(1306-1308)GCA>ACA p.A436T IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 436 Ig-like 3. ovary(4)|large_intestine(2)|kidney(1) 7 TCCAGGCATGCGCGACTCCTC 0.527 NA 4 81 0 0 0.009096 0 0 WT1 7490 broad.mit.edu 37 11 32456382 32456382 + Silent SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:32456382G>C uc001mtn.1 - 1 706 c.510C>G c.(508-510)GGC>GGG p.G170G WT1_uc001mto.1_Silent_p.G170G|WT1_uc001mtp.1_Silent_p.G170G|WT1_uc001mtq.1_Silent_p.G170G|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 102 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CTCCGGCTGTGCCAGTGAACT 0.667 NA D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 5 19 0 0 0.014758 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599133 47599133 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:47599133C>T uc001nfx.2 - 2 590 c.419G>A c.(418-420)CGC>CAC p.R140H NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.R165H|KBTBD4_uc001nfz.2_Missense_Mutation_p.R156H|KBTBD4_uc001nfy.2_Missense_Mutation_p.R140H|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 140 ovary(1)|central_nervous_system(1) 2 TTGCACTGTGCGGGCCAAAAA 0.517 NA 4 171 0 0 0.02938 0 0 OR5M1 390168 broad.mit.edu 37 11 56380559 56380559 + Silent SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:56380559G>A uc001nja.1 - 1 420 c.420C>T c.(418-420)ATC>ATT p.I140I NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GACAGACACAGATGTTCTTGG 0.448 NA 11 56 0 0 0.080935 0 0 CD248 57124 broad.mit.edu 37 11 66084240 66084240 + Missense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr11:66084240G>T uc001ohm.1 - 1 276 c.259C>A c.(259-261)CTG>ATG p.L87M NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 87 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) TGCCGCTGCAGCCCGATCCAC 0.731 NA 4 12 3.59834e-05 3.91467e-05 0.021553 1 0 B4GALNT3 283358 broad.mit.edu 37 12 665822 665822 + Missense_Mutation SNP C C T rs145153320 byFrequency TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:665822C>T uc001qii.1 + 15 2170 c.2170C>T c.(2170-2172)CGG>TGG p.R724W B4GALNT3_uc001qik.1_Missense_Mutation_p.R273W NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 724 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GCGCGTGGTGCGGCTCTCGGA 0.632 NA 3 38 0 0 0.004672 0 0 KCNA1 3736 broad.mit.edu 37 12 5021828 5021828 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:5021828C>T uc001qnh.2 + 2 2389 c.1284C>T c.(1282-1284)CTC>CTT p.L428L NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 428 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCAGTTGCTCCACGTCAGTT 0.502 NA 6 317 0 0 0.021553 0 0 TFCP2 7024 broad.mit.edu 37 12 51501052 51501052 + Silent SNP A A G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:51501052A>G uc001rxw.2 - 7 1254 c.795T>C c.(793-795)TAT>TAC p.Y265Y TFCP2_uc001rxv.1_Silent_p.Y265Y|TFCP2_uc009zlx.1_Silent_p.Y214Y|TFCP2_uc001rxx.2_Silent_p.Y265Y|TFCP2_uc009zly.1_Silent_p.Y167Y NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 265 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGGAAGGCTGATATTTCTCCT 0.338 NA 91 190 0 0 0.048971 0 0 KRT71 112802 broad.mit.edu 37 12 52942007 52942007 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:52942007C>T uc001sao.2 - 5 977 c.907G>A c.(907-909)GAA>AAA p.E303K NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 303 Coil 2.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) GTGCGGACTTCGTCAATGATG 0.567 NA 10 85 0 0 0.058154 0 0 ACACB 32 broad.mit.edu 37 12 109698352 109698352 + Silent SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:109698352C>A uc001tob.2 + 48 6683 c.6564C>A c.(6562-6564)CCC>CCA p.P2188P ACACB_uc001toc.2_Silent_p.P2188P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P854P NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2188 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) ACAAACAGCCCATCCTGATCT 0.537 NA 68 76 5.7554e-21 6.78316e-21 0.048971 1 0 SPPL3 121665 broad.mit.edu 37 12 121204115 121204115 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr12:121204115T>C uc001tzd.2 - 10 1515 c.1034A>G c.(1033-1035)TAT>TGT p.Y345C SPPL3_uc009zwz.2_Missense_Mutation_p.Y338C|SPPL3_uc001tzc.2_Missense_Mutation_p.Y175C NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 346 Helical; (Potential). integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGCACCAAATAGAGAAGGGC 0.522 NA 3 8 0 0 0.004672 0 0 PAN3 255967 broad.mit.edu 37 13 28855451 28855451 + Splice_Site SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr13:28855451G>T uc001urz.2 + 16 1890 c.1882_splice c.e16-1 p.E628_splice PAN3_uc001ury.2_Splice_Site_p.E462_splice|PAN3_uc001urx.2_Splice_Site_p.E574_splice NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) ATGTTTTATAGGAGGTTCAAA 0.303 NA 11 42 1.5842e-08 1.7622e-08 0.105934 1 0 AHNAK2 113146 broad.mit.edu 37 14 105418451 105418451 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr14:105418451G>A uc010axc.1 - 7 3457 c.3337C>T c.(3337-3339)CCC>TCC p.P1113S AHNAK2_uc001ypx.2_Missense_Mutation_p.P1013S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1113 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCGCCTTGGGGCTTTTCAGG 0.647 NA 45 226 0 0 0.045515 0 0 AQP9 366 broad.mit.edu 37 15 58467128 58467128 + Missense_Mutation SNP T T A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:58467128T>A uc002aez.2 + 4 745 c.388T>A c.(388-390)TCC>ACC p.S130T ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.S65T NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 130 Helical; (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) TGGACTTATGTCCTTTGCTGG 0.478 NA 9 47 0 0 0.058154 0 0 UACA 55075 broad.mit.edu 37 15 70960850 70960850 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:70960850C>G uc002asr.2 - 16 2277 c.2173G>C c.(2173-2175)GAT>CAT p.D725H UACA_uc010uke.1_Missense_Mutation_p.D616H|UACA_uc002asq.2_Missense_Mutation_p.D712H|UACA_uc010bin.1_Missense_Mutation_p.D700H NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 725 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 AGCTTATTATCCAAATAAACT 0.318 NA 11 84 0 0 0.069234 0 0 UACA 55075 broad.mit.edu 37 15 70961012 70961012 + Missense_Mutation SNP G G T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:70961012G>T uc002asr.2 - 16 2115 c.2011C>A c.(2011-2013)CTT>ATT p.L671I UACA_uc010uke.1_Missense_Mutation_p.L562I|UACA_uc002asq.2_Missense_Mutation_p.L658I|UACA_uc010bin.1_Missense_Mutation_p.L646I NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 671 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 ACATTCTCAAGTTCTCTCTTT 0.358 NA 22 97 2.44723e-14 2.78478e-14 0.099896 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 3 17 0 0 0.014758 0 0 SEPT12 124404 broad.mit.edu 37 16 4829784 4829784 + Nonsense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:4829784G>A uc002cxq.2 - 8 871 c.730C>T c.(730-732)CGA>TGA p.R244* SEPT12_uc002cxr.2_Nonsense_Mutation_p.R198*|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 244 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 AAAGGGATTCGGTCCTGGGAA 0.572 NA 21 44 0 0 0.049695 0 0 FHOD1 29109 broad.mit.edu 37 16 67265670 67265670 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:67265670G>A uc002esl.2 - 15 2367 c.2255C>T c.(2254-2256)GCC>GTC p.A752V FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.A559V NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 752 Interaction with ROCK1.|FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GGCCAGCTGGGCTTCCTCAAT 0.602 NA 6 19 0 0 0.038147 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555040 76555040 + Nonsense_Mutation SNP C C A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr16:76555040C>A uc002feu.1 + 18 2754 c.2369C>A c.(2368-2370)TCA>TAA p.S790* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.S654*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.S717*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.S793* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 790 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AAAACAGGATCATTTTGGAAT 0.303 NA 49 93 1.35964e-18 1.56516e-18 0.048971 1 0 MYO15A 51168 broad.mit.edu 37 17 18063273 18063273 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:18063273C>T uc010vxh.1 + 55 9666 c.9328C>T c.(9328-9330)CGG>TGG p.R3110W MYO15A_uc010vxi.1_Missense_Mutation_p.R374W|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.R99W|MYO15A_uc002gsl.2_Missense_Mutation_p.R117W|MYO15A_uc010vxm.1_Missense_Mutation_p.R32W|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.2_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3110 Tail.|MyTH4 2. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGAGGTCATGCGGGATGAATG 0.522 NA 3 20 0 0 0.014758 0 0 SUPT6H 6830 broad.mit.edu 37 17 27004785 27004785 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:27004785C>G uc002hby.2 + 8 1040 c.950C>G c.(949-951)GCT>GGT p.A317G SUPT6H_uc010crt.2_Missense_Mutation_p.A317G NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 317 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GAAGAAGAAGCTGACTGGATC 0.458 NA 22 179 0 0 0.076483 0 0 SSH2 85464 broad.mit.edu 37 17 27993938 27993938 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:27993938C>T uc002heo.1 - 10 898 c.898G>A c.(898-900)GTG>ATG p.V300M SSH2_uc010wbh.1_Missense_Mutation_p.V327M|SSH2_uc002hep.1_Missense_Mutation_p.V300M NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 300 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CCAAGGATCACTATCATTTCA 0.383 NA 34 169 0 0 0.054565 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:39274415C>T uc002hvz.2 - 1 192 c.153G>A c.(151-153)AGG>AGA p.R51R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667 NA 5 48 0 0 0.021553 0 0 TUBD1 51174 broad.mit.edu 37 17 57968194 57968194 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:57968194C>G uc002ixw.1 - 2 448 c.170G>C c.(169-171)GGA>GCA p.G57A TUBD1_uc010ddf.1_Missense_Mutation_p.G57A|TUBD1_uc010ddg.1_Missense_Mutation_p.G22A|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.G57A|TUBD1_uc002ixx.1_Missense_Mutation_p.G57A|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.G57A|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 57 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) ACACCTACCTCCATTCTCCTC 0.289 NA 16 138 0 0 0.043863 0 0 TMEM104 54868 broad.mit.edu 37 17 72815930 72815930 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:72815930C>T uc002jls.3 + 9 840 c.678C>T c.(676-678)GAC>GAT p.D226D TMEM104_uc010wrf.1_Silent_p.D226D|TMEM104_uc010wrg.1_Silent_p.D239D|TMEM104_uc010dfx.2_Silent_p.D226D NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 226 Cytoplasmic (Potential). integral to membrane 0 all_lung(278;0.23) CCTTCTTTGACGTCCAGAAGA 0.562 NA 20 52 0 0 0.043863 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14752603 14752603 + Missense_Mutation SNP A A T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:14752603A>T uc010dlo.2 + 2 440 c.260A>T c.(259-261)GAA>GTA p.E87V ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 87 ANK 1. ovary(1)|skin(1) 2 GGCCATGCAGAAGTAGTAACA 0.453 NA 3 15 0 0 0.009096 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43577777 43577778 + Missense_Mutation DNP GC GC AG TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:43577777_43577778GC>AG uc002lbp.3 - 9 675_676 c.579_580GC>CT c.(577-582)CTGCAC>CTCTAC p.H194Y PSTPIP2_uc002lbq.3_Missense_Mutation_p.H194Y NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 194 membrane ovary(1) 1 GTGCCGATGTGCAGCATGTATG 0.569 NA 28 35 0 0 0.004672 0 0 SERPINB7 8710 broad.mit.edu 37 18 61465845 61465845 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr18:61465845C>G uc002ljl.2 + 6 558 c.462C>G c.(460-462)ATC>ATG p.I154M SERPINB7_uc002ljm.2_Missense_Mutation_p.I154M|SERPINB7_uc010xet.1_Missense_Mutation_p.I137M|SERPINB7_uc010dqg.2_Missense_Mutation_p.I154M NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 154 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) AAGGCAAAATCAAGAACGTGA 0.323 NA 9 80 0 0 0.047766 0 0 ZNF548 147694 broad.mit.edu 37 19 57910809 57910809 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr19:57910809G>A uc002qom.2 + 3 1404 c.1154G>A c.(1153-1155)AGA>AAA p.R385K ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.R388K NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 385 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAACATTGGAGAAATCACACT 0.438 NA 3 56 0 0 0.004672 0 0 KIF3C 3797 broad.mit.edu 37 2 26151924 26151924 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:26151924G>A uc002rgu.2 - 8 2962 c.2305C>T c.(2305-2307)CGG>TGG p.R769W KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R767W NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 769 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGAGGCCGCTGAGGACTC 0.602 NA 14 79 0 0 0.020292 0 0 NLRC4 58484 broad.mit.edu 37 2 32476011 32476011 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:32476011G>C uc002roi.2 - 4 1168 c.922C>G c.(922-924)CTC>GTC p.L308V NLRC4_uc002roj.1_Missense_Mutation_p.L308V|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 308 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTCGGATGAGAGCCTGGGCG 0.532 NA 5 64 0 0 0.014758 0 0 EML4 27436 broad.mit.edu 37 2 42488319 42488319 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:42488319C>G uc002rsi.2 + 4 659 c.397C>G c.(397-399)CAT>GAT p.H133D EML4_uc002rsh.3_Missense_Mutation_p.H133D|EML4_uc010fap.2_Intron NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 133 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 agaggaaTCTCATTCTAATGA 0.294 NA T ALK NSCLC 5 67 0 0 0.014758 0 0 SOCS5 9655 broad.mit.edu 37 2 46986084 46986084 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:46986084G>C uc002rvf.2 + 2 579 c.415G>C c.(415-417)GAT>CAT p.D139H SOCS5_uc010yoe.1_Missense_Mutation_p.D108H|SOCS5_uc002rvg.2_Missense_Mutation_p.D139H NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 139 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) ATTGGATGCTGATAAAAAGTT 0.458 NA 6 59 0 0 0.038147 0 0 PDE11A 50940 broad.mit.edu 37 2 178969106 178969106 + Nonsense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:178969106G>A uc002ulr.2 - 2 184 c.85C>T c.(85-87)CAA>TAA p.Q29* PDE11A_uc002ult.1_Nonsense_Mutation_p.Q29* NM_001077197 NP_001070665 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 3 Error:Variant_position_missing_in_Q9HCR9_after_alignment platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CCAGAGATTTGGACCAGTCTT 0.438 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 13 134 0 0 0.020292 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311403 180311403 + Silent SNP T T G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:180311403T>G uc002unn.3 - 7 1369 c.765A>C c.(763-765)CCA>CCC p.P255P ZNF385B_uc002unj.2_Silent_p.P153P|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.P152P|ZNF385B_uc002unm.2_Silent_p.P179P NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 255 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTGCTCCAGGTGGCAGGGGTG 0.453 Colon(155;204 2491 32774 51842) NA 8 101 0 0 0.020292 0 0 GTF3C3 9330 broad.mit.edu 37 2 197629319 197629319 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr2:197629319G>C uc002uts.2 - 18 2719 c.2629C>G c.(2629-2631)CAA>GAA p.Q877E GTF3C3_uc010zgu.1_Missense_Mutation_p.Q848E NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 877 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 AAAAGCGTTTGAGCCATTCCG 0.453 NA 8 76 0 0 0.038147 0 0 PRDM15 63977 broad.mit.edu 37 21 43274737 43274737 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr21:43274737G>A uc002yzq.1 - 12 1685 c.1574C>T c.(1573-1575)GCG>GTG p.A525V PRDM15_uc002yzo.2_Missense_Mutation_p.A196V|PRDM15_uc002yzp.2_Missense_Mutation_p.A196V|PRDM15_uc002yzr.1_Missense_Mutation_p.A196V NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 525 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATAGAAGGCCGCATACCACAC 0.647 NA 4 97 0 0 0.009096 0 0 SMTN 6525 broad.mit.edu 37 22 31492754 31492754 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr22:31492754G>C uc003ajl.1 + 14 2115 c.1897G>C c.(1897-1899)GAG>CAG p.E633Q SMTN_uc003ajk.1_Missense_Mutation_p.E633Q|SMTN_uc003ajm.1_Missense_Mutation_p.E633Q|SMTN_uc011ale.1_Missense_Mutation_p.E718Q|SMTN_uc011alf.1_Missense_Mutation_p.E689Q|SMTN_uc003ajn.1_Missense_Mutation_p.E656Q|SMTN_uc011alg.1_Missense_Mutation_p.E89Q|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 633 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GCGGCTGCAGGAGGCACGGGG 0.677 NA 12 54 0 0 0.024245 0 0 MST1 4485 broad.mit.edu 37 3 49722464 49722464 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr3:49722464G>C uc003cxg.2 - 14 1675 c.1603C>G c.(1603-1605)CGG>GGG p.R535G NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 521 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCACTGCCGGGCAGTCAGT 0.592 GBM(110;181 1524 8005 22865 46297) NA 3 12 0 0 0.004672 0 0 FRYL 285527 broad.mit.edu 37 4 48542536 48542536 + Silent SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:48542536C>T uc003gyh.1 - 46 6734 c.6129G>A c.(6127-6129)AAG>AAA p.K2043K FRYL_uc003gyg.1_Silent_p.K739K|FRYL_uc003gyi.1_Silent_p.K931K|FRYL_uc003gyj.1_Silent_p.K338K NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2043 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CATTTTCAATCTTCTCTCGAC 0.383 NA 9 97 0 0 0.058154 0 0 CXXC4 80319 broad.mit.edu 37 4 105412175 105412175 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:105412175G>A uc003hxg.2 - 1 293 c.278C>T c.(277-279)GCA>GTA p.A93V uc003hxh.1_RNA|CXXC4_uc010ilo.2_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 93 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGCTGAGGCTGCTGCGGGGGA 0.602 NA 23 67 0 0 0.062417 0 0 FAT1 2195 broad.mit.edu 37 4 187521354 187521354 + Missense_Mutation SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr4:187521354G>A uc003izf.2 - 22 11989 c.11801C>T c.(11800-11802)TCG>TTG p.S3934L FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3934 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGCTGTGCCCGATGCAGTATG 0.517 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 3 46 0 0 0.004672 0 0 ZNF451 26036 broad.mit.edu 37 6 57006175 57006175 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr6:57006175C>T uc003pdm.1 + 8 1002 c.778C>T c.(778-780)CTT>TTT p.L260F ZNF451_uc003pdl.2_Missense_Mutation_p.L260F|ZNF451_uc003pdn.1_Missense_Mutation_p.L260F|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L260F NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 260 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAATTGCTTCCTTCTTTTTAG 0.373 NA 7 32 0 0 0.02938 0 0 SHPRH 257218 broad.mit.edu 37 6 146215302 146215302 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr6:146215302C>T uc003qlf.2 - 27 5078 c.4679G>A c.(4678-4680)CGT>CAT p.R1560H SHPRH_uc003qld.2_Missense_Mutation_p.R1564H|SHPRH_uc003qle.2_Missense_Mutation_p.R1564H NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1560 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGTCTTAACACGACTGATTTG 0.313 NA 6 26 0 0 0.021553 0 0 CDC14C 168448 broad.mit.edu 37 7 48965166 48965166 + Missense_Mutation SNP A A T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:48965166A>T uc010kyv.1 + 1 1010 c.898A>T c.(898-900)ATG>TTG p.M300L NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 CTGCTACATCATGAAGCATTA 0.498 NA 5 18 0 0 0.02938 0 0 AKAP9 10142 broad.mit.edu 37 7 91712538 91712538 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:91712538C>T uc003ulg.2 + 33 8440 c.8215C>T c.(8215-8217)CAC>TAC p.H2739Y AKAP9_uc003ulf.2_Missense_Mutation_p.H2731Y|AKAP9_uc003uli.2_Missense_Mutation_p.H2362Y|AKAP9_uc003ulj.2_Missense_Mutation_p.H509Y|AKAP9_uc003ulk.2_Missense_Mutation_p.H14Y NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2751 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTTAGGGATCACCTCGCAGA 0.373 NA T BRAF papillary thyroid 13 87 0 0 0.09319 0 0 ORAI2 80228 broad.mit.edu 37 7 102087127 102087127 + Silent SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:102087127G>A uc010lhz.1 + 4 628 c.393G>A c.(391-393)CTG>CTA p.L131L ORAI2_uc003uzj.2_Silent_p.L131L|ORAI2_uc003uzk.2_Silent_p.L131L|ORAI2_uc011kks.1_Silent_p.L54L NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 131 integral to membrane protein binding ovary(1)|kidney(1) 2 TCCACAACCTGAACTCCATCA 0.637 NA 12 123 0 0 0.09319 0 0 CADPS2 93664 broad.mit.edu 37 7 122091483 122091483 + Missense_Mutation SNP C C G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr7:122091483C>G uc010lkp.2 - 14 2396 c.2233G>C c.(2233-2235)GAG>CAG p.E745Q CADPS2_uc011knx.1_Missense_Mutation_p.E116Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E442Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E742Q NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 745 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TTTATCTCCTCAAATCTTTCT 0.274 NA 3 57 0 0 0.004672 0 0 RAD54B 25788 broad.mit.edu 37 8 95403999 95403999 + Silent SNP G G A TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr8:95403999G>A uc003ygk.2 - 10 1745 c.1647C>T c.(1645-1647)TGC>TGT p.C549C RAD54B_uc010may.1_Silent_p.C356C|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CTCCTGGTCGGCAAAAGACAA 0.398 NA Direct_reversal_of_damage|Homologous_recombination 4 221 0 0 0.02938 0 0 VCP 7415 broad.mit.edu 37 9 35059603 35059603 + Missense_Mutation SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:35059603G>C uc003zvy.2 - 14 2280 c.1891C>G c.(1891-1893)CCT>GCT p.P631A VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.P300A|VCP_uc010mki.1_Missense_Mutation_p.P586A NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 631 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGATGGCAGGATCAATGATG 0.502 NA 7 51 0 0 0.047766 0 0 TRPM6 140803 broad.mit.edu 37 9 77339635 77339635 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:77339635T>C uc004ajl.1 - 39 6201 c.5963A>G c.(5962-5964)GAA>GGA p.E1988G TRPM6_uc004ajk.1_Missense_Mutation_p.E1983G|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.E939G|TRPM6_uc010mpd.1_Missense_Mutation_p.E821G|TRPM6_uc010mpe.1_Missense_Mutation_p.E535G|TRPM6_uc004ajj.1_Missense_Mutation_p.E944G NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1988 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 ATTTATCCTTTCAGGGGAATA 0.408 NA 15 91 0 0 0.024245 0 0 FOXB2 442425 broad.mit.edu 37 9 79635526 79635526 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:79635526T>C uc004ako.1 + 1 956 c.956T>C c.(955-957)GTC>GCC p.V319A NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 319 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CACGTTGGCGTCATGGATTCG 0.577 NA 2 7 0 0 0.004672 0 0 GABBR2 9568 broad.mit.edu 37 9 101052878 101052878 + Silent SNP G G C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:101052878G>C uc004ays.2 - 19 2970 c.2814C>G c.(2812-2814)GTC>GTG p.V938V NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 938 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ACAGGCCCGAGACCATGACTC 0.682 NA 6 5 0 0 0.058154 0 0 TOR1A 1861 broad.mit.edu 37 9 132584984 132584984 + Missense_Mutation SNP C C T TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:132584984C>T uc004byl.2 - 2 397 c.320G>A c.(319-321)GGC>GAC p.G107D TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Missense_Mutation_p.G107D NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 107 ATP. chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) GAAATTTTTGCCGGTGCCTGT 0.468 NA 4 206 0 0 0.021553 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070969 141070969 + Silent SNP A A G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr9:141070969A>G uc004com.2 + 4 633 c.372A>G c.(370-372)GCA>GCG p.A124A TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TAGAAAACGCAGATGAGACCT 0.517 NA 3 34 0 0 0.009096 0 0 SSX7 280658 broad.mit.edu 37 X 52682498 52682498 + Missense_Mutation SNP T T C TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chrX:52682498T>C uc004dqx.1 - 2 184 c.25A>G c.(25-27)AGG>GGG p.R9G NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) CTAGGTCTCCTTGCAAAGGCG 0.567 NA 8 146 0 0 0.047766 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970073 101970073 + Silent SNP A A G TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chrX:101970073A>G uc004ejk.2 + 4 1610 c.276A>G c.(274-276)GGA>GGG p.G92G GPRASP2_uc004ejl.2_Silent_p.G92G|GPRASP2_uc004ejm.2_Silent_p.G92G|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 92 cytoplasm protein binding ovary(1) 1 AGGCTCAAGGAATCACAGGGG 0.577 NA 17 64 0 0 0.038395 0 0 ERBB2 2064 broad.mit.edu 37 17 37880997 37880998 + In_Frame_Ins INS - - TCT rs28933369 TCGA-86-6562-01A-11D-1753-08 TCGA-86-6562-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e48dd11b-89ae-4278-8de0-7956423c8609 15867b54-ec82-49b3-a442-689bda9a716d g.chr17:37880997_37880998insTCT uc002hso.2 + 20 2564_2565 c.2326_2327insTCT c.(2326-2328)GGT>GTCTGT p.776_776G>VC ERBB2_uc002hsm.2_In_Frame_Ins_p.746_746G>VC|ERBB2_uc010cwa.2_In_Frame_Ins_p.761_761G>VC|ERBB2_uc002hsp.2_In_Frame_Ins_p.579_579G>VC|ERBB2_uc010cwb.2_In_Frame_Ins_p.776_776G>VC|ERBB2_uc010wek.1_In_Frame_Ins_p.500_500G>VC NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 776 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A775_G776insYVMA(19)|p.G776>VC(8)|p.G776>LC(3)|p.G776V(2)|p.G776S(2) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CGTGATGGCTGGTGTGGGCTCC 0.579 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 16 54 --- --- --- --- NA NA NA NA NA