Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CRCT1 54544 broad.mit.edu 37 1 152487926 152487926 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:152487926C>T uc001ezz.2 + 2 140 c.67C>T c.(67-69)CCG>TCG p.P23S NM_019060 NP_061933 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 23 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGccccgctccgtgtcccgc 0.473 NA 19 13 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196227545 196227545 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:196227545C>T uc001gtd.1 - 26 3050 c.2990G>A c.(2989-2991)CGC>CAC p.R997H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R930H|KCNT2_uc001gtf.1_Missense_Mutation_p.R973H|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R501H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 997 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TGTTGAGTTGCGGTGGTTGCT 0.483 NA 74 100 0 0 0 0 ARMC3 219681 broad.mit.edu 37 10 23270411 23270411 + Missense_Mutation SNP C C G rs146538646 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr10:23270411C>G uc001irm.3 + 9 1142 c.1059C>G c.(1057-1059)TTC>TTG p.F353L ARMC3_uc010qcv.1_Missense_Mutation_p.F353L|ARMC3_uc010qcw.1_Missense_Mutation_p.F90L NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 353 ARM 9. binding 0 AAGATTTTTTCAATAATCAGG 0.363 NA 57 62 0 0 0 0 AP2A2 161 broad.mit.edu 37 11 994108 994108 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:994108C>T uc001lss.2 + 14 2000 c.1819C>T c.(1819-1821)CGG>TGG p.R607W AP2A2_uc001lst.1_Missense_Mutation_p.R608W|AP2A2_uc009yco.1_RNA NM_012305 NP_036437 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 607 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) ATTCCCGGAGCGGGAGTCCTC 0.622 NA 68 111 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1263410 1263410 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:1263410C>T uc009ycr.1 + 47 7505 c.7379C>T c.(7378-7380)ACG>ATG p.T2460M MUC5B_uc001ltb.2_Missense_Mutation_p.T1770M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1767 7 X Cys-rich subdomain repeats.|Thr-rich. 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) AGGACAGAGACGACAATGAGC 0.617 NA 31 41 0 0 0 0 TMEM86A 144110 broad.mit.edu 37 11 18723189 18723189 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:18723189G>T uc001moz.1 + 3 439 c.356G>T c.(355-357)CGG>CTG p.R119L NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 119 integral to membrane ovary(1) 1 CTGGCTCTTCGGACAGGTCTG 0.612 NA 58 73 2.57e-57 2.94e-57 1 0 DAGLA 747 broad.mit.edu 37 11 61488167 61488167 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:61488167G>A uc001nsa.2 + 3 223 c.112G>A c.(112-114)GTG>ATG p.V38M NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 38 Helical; (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GATCCTGTCCGTGGTGCTCTT 0.637 NA 48 60 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793355 65793355 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:65793355C>T uc001ogt.2 - 1 634 c.496G>A c.(496-498)GTG>ATG p.V166M NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 166 His-rich.|Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.V166M(1) ovary(2) 2 TGGTGGGGCACGCCAGAGGAA 0.582 NA 71 75 0 0 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301145 125301145 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:125301145G>A uc001qbu.2 + 13 1590 c.1276G>A c.(1276-1278)GAT>AAT p.D426N PKNOX2_uc010saz.1_Missense_Mutation_p.D397N|PKNOX2_uc010sba.1_Missense_Mutation_p.D397N|PKNOX2_uc010sbb.1_Missense_Mutation_p.D362N|PKNOX2_uc001qbv.2_Missense_Mutation_p.D191N NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 426 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GGCTGCACACGATGACTCATT 0.388 NA 18 29 0 0 0 0 MAP3K12 7786 broad.mit.edu 37 12 53877172 53877172 + Missense_Mutation SNP T T C rs140537763 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:53877172T>C uc001sdm.1 - 11 1573 c.1475A>G c.(1474-1476)AAG>AGG p.K492R MAP3K12_uc001sdn.1_Missense_Mutation_p.K525R NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 492 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CACATTCCTCTTCTTGATAAG 0.532 NA 127 162 0 0 0 0 ACTN1 87 broad.mit.edu 37 14 69349260 69349260 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr14:69349260G>A uc001xkl.2 - 16 2178 c.1868C>T c.(1867-1869)GCC>GTC p.A623V ACTN1_uc001xkk.2_Missense_Mutation_p.A219V|ACTN1_uc010ttb.1_Missense_Mutation_p.A558V|ACTN1_uc001xkm.2_Missense_Mutation_p.A623V|ACTN1_uc001xkn.2_Missense_Mutation_p.A623V|ACTN1_uc010ttc.1_Missense_Mutation_p.A208V NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 623 Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGCTGTCGGGCATGCTCCTC 0.612 NA 5 129 0 0 0 0 TRAF3 7187 broad.mit.edu 37 14 103363706 103363706 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr14:103363706C>T uc001ymc.1 + 10 1281 c.928C>T c.(928-930)CGA>TGA p.R310* TRAF3_uc001yme.1_Nonsense_Mutation_p.R285*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.R310*|TRAF3_uc010txy.1_Nonsense_Mutation_p.R227* NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 310 Potential. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GGAAATGCTTCGAAATAATGA 0.378 NA 27 7 0 0 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41102895 41102895 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:41102895C>T uc001zmt.1 + 6 1280 c.766C>T c.(766-768)CTG>TTG p.L256L ZFYVE19_uc001zmu.1_Silent_p.L256L|ZFYVE19_uc001zmv.1_Silent_p.L81L|ZFYVE19_uc001zmw.1_Silent_p.L81L|ZFYVE19_uc001zmx.1_Silent_p.L81L|ZFYVE19_uc010bcc.1_Silent_p.L81L NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 256 zinc ion binding 0 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) GACACAGGATCTGCTAACGCA 0.592 NA 2 8 0 0 0 0 ADAL 161823 broad.mit.edu 37 15 43641114 43641114 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:43641114C>T uc010udo.1 + 10 1136 c.562C>T c.(562-564)CAA>TAA p.Q188* ADAL_uc001zrh.2_Nonsense_Mutation_p.Q215*|ADAL_uc001zri.1_Nonsense_Mutation_p.Q100* NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GATTCCAAACCAAAAAAAAGA 0.453 NA 36 61 0 0 0 0 ITGAL 3683 broad.mit.edu 37 16 30522385 30522385 + Nonsense_Mutation SNP C C G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:30522385C>G uc002dyi.3 + 24 2890 c.2714C>G c.(2713-2715)TCA>TGA p.S905* ITGAL_uc002dyj.3_Nonsense_Mutation_p.S821*|ITGAL_uc010vev.1_Nonsense_Mutation_p.S139* NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 905 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AATGAGGACTCAGACCTCCTG 0.567 NA 53 72 0 0 0 0 ITGAL 3683 broad.mit.edu 37 16 30525152 30525152 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:30525152C>T uc002dyi.3 + 25 3023 c.2847C>T c.(2845-2847)GTC>GTT p.V949V ITGAL_uc002dyj.3_Silent_p.V865V|ITGAL_uc010vev.1_Silent_p.V183V NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 949 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) TCCACCAAGTCAAGCACATGT 0.507 NA 57 74 0 0 0 0 EFCAB5 374786 broad.mit.edu 37 17 28417554 28417554 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:28417554G>A uc002het.2 + 20 3991 c.3799G>A c.(3799-3801)GAT>AAT p.D1267N EFCAB5_uc010cse.2_Missense_Mutation_p.D1022N|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1267 calcium ion binding ovary(1)|skin(1) 2 GGGAGTCCTCGATTTTAACAT 0.428 NA 90 109 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78013852 78013852 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:78013852C>T uc010dht.2 + 3 362 c.335C>T c.(334-336)ACG>ATG p.T112M CCDC40_uc010wub.1_Missense_Mutation_p.T112M NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 112 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTGCAGATACGACTTACCCG 0.483 NA 89 115 0 0 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79966949 79966949 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:79966949G>T uc002kcx.2 + 8 1067 c.970G>T c.(970-972)GTG>TTG p.V324L ASPSCR1_uc002kcw.1_Missense_Mutation_p.V324L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.V324L|ASPSCR1_uc002kcz.2_Missense_Mutation_p.V218L|ASPSCR1_uc002kda.2_Missense_Mutation_p.V247L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.V247L NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 324 Interaction with GLUT4 (By similarity). protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGAGCCGGTGGTGTGCCACCC 0.721 NA T TFE3 alveolar soft part sarcoma 10 3 3.07e-06 3.28e-06 1 0 AES 166 broad.mit.edu 37 19 3054133 3054133 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:3054133C>T uc002lwy.1 - 6 530 c.357G>A c.(355-357)CTG>CTA p.L119L AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Silent_p.L119L|AES_uc002lxa.1_Silent_p.L63L|AES_uc002lxb.1_Silent_p.L186L|AES_uc002lxc.2_Silent_p.L186L NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 119 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGATAGAGTTCAGCTCGGGAG 0.657 NA 14 17 0 0 0 0 ACER1 125981 broad.mit.edu 37 19 6309770 6309770 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:6309770G>A uc002mel.2 - 4 504 c.426C>T c.(424-426)AAC>AAT p.N142N NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 142 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ceramidase activity 0 GGGCGTAGGCGTTGACCGTGG 0.607 NA 81 109 0 0 0 0 DMWD 1762 broad.mit.edu 37 19 46289911 46289911 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:46289911C>T uc002pdj.1 - 3 889 c.843G>A c.(841-843)GCG>GCA p.A281A DMWD_uc002pdk.1_Silent_p.A281A|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 281 meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCTCACCCACCGCCCACTTGG 0.677 NA 41 54 0 0 0 0 ZIM2 23619 broad.mit.edu 37 19 57286109 57286109 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:57286109G>T uc002qnr.2 - 11 1913 c.1531C>A c.(1531-1533)CAA>AAA p.Q511K uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.Q307K|ZIM2_uc010ygr.1_Missense_Mutation_p.Q307K|ZIM2_uc002qnq.2_Missense_Mutation_p.Q511K|ZIM2_uc010etp.2_Missense_Mutation_p.Q511K|ZIM2_uc010ygs.1_Missense_Mutation_p.Q511K NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 511 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TGATAATGTTGAGTGAGGTAT 0.423 NA 64 66 4.84e-39 5.39e-39 1 0 COL3A1 1281 broad.mit.edu 37 2 189854843 189854843 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr2:189854843C>T uc002uqj.1 + 9 829 c.712C>T c.(712-714)CGA>TGA p.R238* COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 238 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGACCCGGACGACCTGGAGA 0.383 NA 35 73 0 0 0 0 STK35 140901 broad.mit.edu 37 20 2097996 2097996 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr20:2097996G>A uc010gak.2 + 3 1577 c.1577G>A c.(1576-1578)AGA>AAA p.R526K STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R393K NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 526 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CTTGAAACCAGAATGGACCAG 0.428 NA 65 10 0 0 0 0 RIPK4 54101 broad.mit.edu 37 21 43161351 43161351 + Missense_Mutation SNP A A G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr21:43161351A>G uc002yzn.1 - 8 2050 c.2002T>C c.(2002-2004)TCA>CCA p.S668P NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 668 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TAGCCGTCTGAGGTCATGGCC 0.687 NA 82 78 0 0 0 0 ABCG1 9619 broad.mit.edu 37 21 43704767 43704767 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr21:43704767G>A uc002zaq.2 + 7 938 c.832G>A c.(832-834)GCC>ACC p.A278T ABCG1_uc002zan.2_Missense_Mutation_p.A280T|ABCG1_uc002zam.2_Missense_Mutation_p.A256T|ABCG1_uc002zao.2_Missense_Mutation_p.A275T|ABCG1_uc002zap.2_Missense_Mutation_p.A278T|ABCG1_uc002zar.2_Missense_Mutation_p.A289T|ABCG1_uc011aev.1_Missense_Mutation_p.A289T|ABCG1_uc010gpb.1_5'Flank NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 278 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) CCAGCCCAGCGCCAAACTCTT 0.637 NA 7 209 0 0 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446410 29446410 + Silent SNP T T G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr22:29446410T>G uc003aeg.2 + 8 2106 c.1941T>G c.(1939-1941)GGT>GGG p.G647G ZNRF3_uc003aeh.1_Silent_p.G647G NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 747 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GCCCGGCGGGTGGGGAGCCCC 0.692 NA 9 43 0 0 0 0 AP1B1 162 broad.mit.edu 37 22 29747175 29747175 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr22:29747175G>A uc003afj.2 - 9 1324 c.1140C>T c.(1138-1140)TGC>TGT p.C380C AP1B1_uc003afi.2_Silent_p.C380C|AP1B1_uc003afk.2_Silent_p.C380C|AP1B1_uc003afl.2_Silent_p.C380C|AP1B1_uc011ako.1_5'Flank NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 380 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CCTTGATGGCGCAGCGGCCAA 0.547 NA 13 482 0 0 0 0 IFRD2 7866 broad.mit.edu 37 3 50326114 50326114 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr3:50326114C>T uc011bdp.1 - 10 1373 c.1244G>A c.(1243-1245)CGC>CAC p.R415H IFRD2_uc003czb.2_Missense_Mutation_p.R517H NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 415 binding lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAAGCCGAAGCGCACTATCTC 0.597 NA 18 2 0 0 0 0 MRPL3 11222 broad.mit.edu 37 3 131190031 131190031 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr3:131190031C>A uc003eoh.2 - 7 886 c.722G>T c.(721-723)GGA>GTA p.G241V MRPL3_uc011blo.1_Missense_Mutation_p.G136V|MRPL3_uc011blp.1_Missense_Mutation_p.G268V NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 241 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 TGCAACAGCTCCAGGTCTCCT 0.423 NA 8 148 0.00307968 0.00318098 1 0 TBC1D14 57533 broad.mit.edu 37 4 7016236 7016236 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:7016236C>T uc011bwg.1 + 12 1788 c.1709C>T c.(1708-1710)GCG>GTG p.A570V TBC1D14_uc003gjs.3_Missense_Mutation_p.A570V|TBC1D14_uc010idh.2_Missense_Mutation_p.A290V|TBC1D14_uc011bwh.1_Missense_Mutation_p.A217V|TBC1D14_uc003gju.3_Missense_Mutation_p.A61V NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 570 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 AAATTATTTGCGCATTTCAAG 0.358 NA 3 66 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126372965 126372965 + Silent SNP A A G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:126372965A>G uc003ifj.3 + 9 10794 c.10794A>G c.(10792-10794)GGA>GGG p.G3598G FAT4_uc011cgp.1_Silent_p.G1896G|FAT4_uc003ifi.1_Silent_p.G1076G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3598 Cadherin 34.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTTCCACAGGAACTGTGCATA 0.428 NA 125 155 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 NA Mis|N|D|F colorectal|endometrial|T-ALL 100 120 0 0 0 0 HMGCR 3156 broad.mit.edu 37 5 74651207 74651207 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr5:74651207C>A uc003kdp.2 + 14 1896 c.1740C>A c.(1738-1740)AGC>AGA p.S580R HMGCR_uc011cst.1_Missense_Mutation_p.S600R|HMGCR_uc003kdq.2_Missense_Mutation_p.S527R NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 580 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GAGGTGCCAGCAGCCGAGTCC 0.493 NA 94 160 8.45e-40 9.48e-40 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181621 140181621 + Missense_Mutation SNP C C G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr5:140181621C>G uc003lhf.2 + 1 839 c.839C>G c.(838-840)TCT>TGT p.S280C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S280C NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 280 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGCGTATTCTTTCAATACG 0.388 NA 69 78 0 0 0 0 PIM1 5292 broad.mit.edu 37 6 37140830 37140830 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:37140830G>A uc003onk.2 + 5 1096 c.666G>A c.(664-666)TCG>TCA p.S222S PIM1_uc011dtw.1_Missense_Mutation_p.R91Q NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 313 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) ATGGCAGGTCGGCGGCAGTCT 0.522 NA T BCL6 NHL 65 97 0 0 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324547 86324547 + Missense_Mutation SNP T T A rs147197492 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:86324547T>A uc003pla.2 - 11 2340 c.1799A>T c.(1798-1800)CAT>CTT p.H600L SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.H565L NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 600 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GTTACCAGAATGATCACCACC 0.478 NA 90 113 0 0 0 0 C6orf174 387104 broad.mit.edu 37 6 127796906 127796906 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:127796906G>A uc003qbd.2 - 6 3130 c.2265C>T c.(2263-2265)AGC>AGT p.S755S C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 755 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TGCCCGCGTCGCTCTCGGCGT 0.692 NA 94 99 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159653589 159653589 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:159653589G>A uc010kjv.2 + 11 2245 c.2045G>A c.(2044-2046)CGC>CAC p.R682H FNDC1_uc010kjw.1_Missense_Mutation_p.R567H NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 682 Ser-rich. extracellular region p.R682H(1) large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCGTTCTCCGCGACAGAAGC 0.716 NA 19 21 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161155067 161155067 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:161155067G>A uc003qtm.3 + 13 1691 c.1628G>A c.(1627-1629)TGC>TAC p.C543Y NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 543 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGTCCCTGGTGCTACACGACA 0.473 NA 30 31 0 0 0 0 GNB2 2783 broad.mit.edu 37 7 100275401 100275401 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr7:100275401G>A uc003uwb.2 + 7 730 c.457G>A c.(457-459)GAT>AAT p.D153N GNB2_uc003uwc.2_Missense_Mutation_p.D109N|GNB2_uc010lhd.2_Missense_Mutation_p.D109N|GNB2_uc010lhe.2_Missense_Mutation_p.D109N|GNB2_uc003uwd.2_Missense_Mutation_p.D53N|GNB2_uc010lhf.2_Missense_Mutation_p.D53N|GNB2_uc003uwe.2_Missense_Mutation_p.D153N|GNB2_uc003uwf.2_Missense_Mutation_p.D53N NM_005273 NP_005264 P62879 GBB2_HUMAN guanine nucleotide-binding protein, beta-2 153 WD 3. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity ovary(2) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCGCTTCCTGGATGACAACCA 0.627 NA 46 42 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3245095 3245095 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:3245095C>T uc011kwk.1 - 18 3096 c.2706G>A c.(2704-2706)CCG>CCA p.P902P CSMD1_uc011kwj.1_Silent_p.P294P|CSMD1_uc003wqe.2_Silent_p.P58P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 902 Extracellular (Potential).|Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGTGTACCCCGGGTCACAGC 0.607 NA 14 18 0 0 0 0 FZD3 7976 broad.mit.edu 37 8 28384970 28384970 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:28384970C>A uc003xgx.2 + 5 1171 c.693C>A c.(691-693)TTC>TTA p.F231L FZD3_uc010lvb.2_Missense_Mutation_p.F231L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 231 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TCACAAGATTCCGTTATCCTG 0.353 NA 86 280 5.72e-32 6.33e-32 1 0 ADAM2 2515 broad.mit.edu 37 8 39624556 39624556 + Missense_Mutation SNP A A T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:39624556A>T uc003xnj.2 - 14 1393 c.1318T>A c.(1318-1320)TCA>ACA p.S440T ADAM2_uc003xnk.2_Missense_Mutation_p.S421T|ADAM2_uc011lck.1_Missense_Mutation_p.S440T|ADAM2_uc003xnl.2_Missense_Mutation_p.S314T NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 440 Extracellular (Potential).|Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTTCTTTTGACATAAACTGA 0.343 NA 331 117 0 0 0 0 PEX2 5828 broad.mit.edu 37 8 77896111 77896111 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:77896111G>T uc003yax.2 - 4 762 c.304C>A c.(304-306)CAA>AAA p.Q102K PEX2_uc003yay.2_Missense_Mutation_p.Q102K|PEX2_uc003yaz.2_Missense_Mutation_p.Q102K NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 102 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 CAGATTTTTTGATTTTTACTG 0.373 NA 115 57 4.36e-55 4.96e-55 1 0 RENBP 5973 broad.mit.edu 37 X 153209359 153209359 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chrX:153209359C>T uc004fjo.1 - 4 447 c.277G>A c.(277-279)GCA>ACA p.A93T RENBP_uc011mzh.1_Missense_Mutation_p.A93T NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 93 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GCTTTTGCTGCGTCCAGAAGC 0.577 NA 6 0 0 0 0 0 SLC16A4 9122 broad.mit.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:110906426_110906427insA uc001dzo.1 - 9 1607_1608 c.1425_1426insT c.(1423-1428)TTTGTAfs p.F475fs SLC16A4_uc009wfs.1_Frame_Shift_Ins_p.F427fs|SLC16A4_uc001dzp.1_Frame_Shift_Ins_p.F307fs|SLC16A4_uc010ovy.1_Frame_Shift_Ins_p.F413fs|SLC16A4_uc001dzq.1_Frame_Shift_Ins_p.F245fs|SLC16A4_uc010ovz.1_Frame_Shift_Ins_p.L372fs NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 475_476 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GCCAATGGTACAAAAAAAAAGG 0.391 NA 10 182 --- --- --- --- NA NA NA NA KPRP 448834 broad.mit.edu 37 1 152732518 152732520 + In_Frame_Del DEL AAC AAC - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:152732518_152732520delAAC uc001fal.1 + 2 512_514 c.454_456delAAC c.(454-456)AACdel p.N152del NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 152 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAGTCCAGAACTATGTACCCT 0.507 NA 96 129 --- --- --- --- NA NA NA NA IRF2BP2 359948 broad.mit.edu 37 1 234743346 234743348 + In_Frame_Del DEL TTG TTG - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:234743346_234743348delTTG uc001hwg.2 - 2 1330_1332 c.1299_1301delCAA c.(1297-1302)GACAAT>GAT p.N434del IRF2BP2_uc009xfw.2_In_Frame_Del_p.N44del|IRF2BP2_uc001hwf.2_In_Frame_Del_p.N418del NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GCCCCCTGCATTGTCTGCTACTA 0.581 NA 100 182 --- --- --- --- NA NA NA NA