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 APITD1 378708 broad.mit.edu 37 1 10494743 10494743 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:10494743G>A uc001are.2 + 3 621 c.205G>A c.(205-207)GCA>ACA p.A69T APITD1_uc001arf.2_Missense_Mutation_p.A69T|APITD1_uc001arg.2_3'UTR|APITD1_uc001arh.2_Missense_Mutation_p.A30T NM_199294 NP_954988 Q8N2Z9 CENPS_HUMAN apoptosis-inducing, TAF9-like domain 1 isoform 69 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) TGAAATGTTTGCAAGGTGGGT 0.418 NA 8 162 0 0 0 0 EIF4G3 8672 broad.mit.edu 37 1 21220080 21220080 + Missense_Mutation SNP G G C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:21220080G>C uc001bec.2 - 13 2271 c.2015C>G c.(2014-2016)CCT>CGT p.P672R EIF4G3_uc010odi.1_Missense_Mutation_p.P276R|EIF4G3_uc010odj.1_Missense_Mutation_p.P671R|EIF4G3_uc009vpz.2_Missense_Mutation_p.P392R|EIF4G3_uc001bed.2_Missense_Mutation_p.P672R|EIF4G3_uc001bef.2_Missense_Mutation_p.P671R|EIF4G3_uc001bee.2_Missense_Mutation_p.P678R NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 672 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGTCCTCGAGGCAAAATTCG 0.463 NA 46 83 0 0 0 0 PPP1R8 5511 broad.mit.edu 37 1 28167531 28167531 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:28167531G>A uc001bov.1 + 4 332 c.278G>A c.(277-279)GGC>GAC p.G93D PPP1R8_uc001bow.1_5'UTR|PPP1R8_uc001box.1_Intron|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_Intron NM_014110 NP_054829 Q12972 PP1R8_HUMAN protein phosphatase 1 regulatory inhibitor 93 FHA.|Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding 0 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCACACGGCACTTTCTTG 0.468 NA 5 250 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046335 42046335 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:42046335G>A uc001cgz.3 - 4 5347 c.4134C>T c.(4132-4134)CCC>CCT p.P1378P HIVEP3_uc001cha.3_Silent_p.P1378P|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1378 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGAAGGGCCGGGCCCAACCT 0.527 NA 105 134 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169391468 169391468 + Missense_Mutation SNP A A T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:169391468A>T uc001gga.1 - 3 369 c.201T>A c.(199-201)GAT>GAA p.D67E C1orf114_uc001gfz.1_Missense_Mutation_p.D67E|C1orf114_uc009wvq.1_Missense_Mutation_p.D67E|C1orf114_uc001ggb.2_Missense_Mutation_p.D67E|C1orf114_uc001ggc.1_Missense_Mutation_p.D67E NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 67 0 all_hematologic(923;0.208) ATTTGTCAGGATCAGAATGCC 0.383 NA 45 83 0 0 0 0 C1orf49 84066 broad.mit.edu 37 1 178491563 178491563 + Silent SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:178491563T>A uc001glt.1 + 9 802 c.690T>A c.(688-690)ACT>ACA p.T230T C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_Intron|C1orf49_uc001glw.1_Intron NM_032126 NP_115502 Q5T0J7 CA049_HUMAN hypothetical protein LOC84066 230 microtubule cytoskeleton 0 agtcccagactgagggaaggt 0.04 NA 10 13 0 0 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr10:75406952A>G uc001jut.3 - 4 2610 c.2458T>C c.(2458-2460)TTT>CTT p.F820L SYNPO2L_uc001jus.3_Missense_Mutation_p.F596L NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 820 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577 NA 3 250 0 0 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7618879 7618879 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:7618879A>G uc001mfj.3 + 5 849 c.461A>G c.(460-462)AAT>AGT p.N154S PPFIBP2_uc010rbb.1_Missense_Mutation_p.N77S|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.N77S|PPFIBP2_uc010rbd.1_5'UTR|PPFIBP2_uc010rbe.1_Missense_Mutation_p.N42S NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 154 Potential. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTGAAACTCAATGCTGCTGAA 0.547 NA 16 20 0 0 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696185 60696185 + Missense_Mutation SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:60696185T>A uc001nqj.2 + 4 812 c.619T>A c.(619-621)TAC>AAC p.Y207N TMEM132A_uc001nqi.2_Missense_Mutation_p.Y207N|TMEM132A_uc001nqk.2_Missense_Mutation_p.Y220N|TMEM132A_uc001nql.1_Missense_Mutation_p.Y220N NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 207 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CGAGCTGGCCTACACGCTTGA 0.692 NA 28 38 0 0 0 0 DRD2 1813 broad.mit.edu 37 11 113283362 113283362 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:113283362G>A uc001pnz.2 - 6 1375 c.1054C>T c.(1054-1056)CGG>TGG p.R352W DRD2_uc010rwv.1_Missense_Mutation_p.R351W|DRD2_uc001poa.3_Missense_Mutation_p.R352W|DRD2_uc001pob.3_Missense_Mutation_p.R323W NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 352 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AGGGAGGTCCGGGTTTTGCCA 0.567 NA 52 41 0 0 0 0 GRIK4 2900 broad.mit.edu 37 11 120732824 120732824 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:120732824C>T uc001pxn.2 + 9 1188 c.901C>T c.(901-903)CCT>TCT p.P301S GRIK4_uc009zav.1_Missense_Mutation_p.P301S|GRIK4_uc009zaw.1_Missense_Mutation_p.P301S|GRIK4_uc009zax.1_Missense_Mutation_p.P301S NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 301 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTTCACTGGGCCTGCGGTAAG 0.562 NA 142 232 0 0 0 0 OPCML 4978 broad.mit.edu 37 11 132527003 132527003 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:132527003G>A uc001qgs.2 - 2 429 c.379C>T c.(379-381)CGG>TGG p.R127W OPCML_uc001qgu.2_Missense_Mutation_p.R120W|OPCML_uc010sck.1_Missense_Mutation_p.R127W|OPCML_uc001qgt.2_Missense_Mutation_p.R127W|OPCML_uc010scl.1_Missense_Mutation_p.R86W NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 127 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) AGGTGAACCCGGGACGTTTTG 0.502 NA 31 87 0 0 0 0 KRT2 3849 broad.mit.edu 37 12 53039156 53039156 + Missense_Mutation SNP C C A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr12:53039156C>A uc001sat.2 - 9 1600 c.1567G>T c.(1567-1569)GGT>TGT p.G523C NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 523 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) GACCCTCTACCTCCAGAACCT 0.552 NA 88 148 7.54e-32 8.8e-32 1 0 HAL 3034 broad.mit.edu 37 12 96379739 96379739 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr12:96379739G>A uc001tem.1 - 14 1450 c.1153C>T c.(1153-1155)CAC>TAC p.H385Y HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.H177Y|HAL_uc010sux.1_Missense_Mutation_p.H385Y NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 385 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) CAGAACCTGTGACTCTCTGTG 0.418 NA 33 40 0 0 0 0 SIAH3 283514 broad.mit.edu 37 13 46357874 46357874 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr13:46357874C>T uc001vap.2 - 2 536 c.454G>A c.(454-456)GCG>ACG p.A152T NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 152 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 TCAGCCGGCGCGGGGAGGTGC 0.617 NA 27 19 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64493344 64493344 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr14:64493344C>T uc001xgm.2 + 42 6530 c.6300C>T c.(6298-6300)ATC>ATT p.I2100I SYNE2_uc001xgl.2_Silent_p.I2100I NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2100 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAGAGACCATCATGAAGCAGG 0.448 NA 17 9 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414123 105414123 + Silent SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr14:105414123A>G uc010axc.1 - 7 7785 c.7665T>C c.(7663-7665)CCT>CCC p.P2555P AHNAK2_uc001ypx.2_Silent_p.P2455P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2555 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) CCTCCGGCACAGGGCCCTCTG 0.627 NA 4 220 0 0 0 0 ERN2 10595 broad.mit.edu 37 16 23713534 23713534 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:23713534C>T uc002dma.3 - 11 1455 c.1286G>A c.(1285-1287)GGG>GAG p.G429E ERN2_uc010bxp.2_Missense_Mutation_p.G429E|ERN2_uc010bxq.1_Missense_Mutation_p.G237E NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 381 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGTTCCACTCCCCAGGGTGGG 0.617 NA 112 190 0 0 0 0 CYLD 1540 broad.mit.edu 37 16 50820854 50820854 + Nonsense_Mutation SNP A A T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:50820854A>T uc002egp.1 + 13 2453 c.2038A>T c.(2038-2040)AAA>TAA p.K680* CYLD_uc010cbs.1_Nonsense_Mutation_p.K677*|CYLD_uc002egq.1_Nonsense_Mutation_p.K677*|CYLD_uc002egr.1_Nonsense_Mutation_p.K677*|CYLD_uc002egs.1_Nonsense_Mutation_p.K677* NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 680 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) CTCTGAAGAAAAAGGTGACCA 0.358 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 37 26 0 0 0 0 IRX6 79190 broad.mit.edu 37 16 55361590 55361590 + Missense_Mutation SNP G G A rs139251893 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:55361590G>A uc002ehy.2 + 4 1039 c.506G>A c.(505-507)CGC>CAC p.R169H IRX6_uc002ehx.2_Missense_Mutation_p.R169H|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 169 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 AACGAGCACCGCAAAAACCCC 0.612 NA 3 56 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68729271 68729271 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:68729271G>A uc002ewf.2 + 14 3248 c.2116G>A c.(2116-2118)GGT>AGT p.G706S CDH3_uc010vli.1_Missense_Mutation_p.G651S NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 706 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CGAAGAGGGGGGTGGCGAAGA 0.587 NA 14 6 0 0 0 0 SHBG 6462 broad.mit.edu 37 17 7533791 7533791 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:7533791G>A uc002gie.2 + 2 207 c.169G>A c.(169-171)GCT>ACT p.A57T SHBG_uc010cmo.2_5'UTR|SHBG_uc010cmp.2_5'UTR|SHBG_uc010cmq.2_5'UTR|SHBG_uc010cmr.2_5'UTR|SHBG_uc010cms.2_5'UTR|SHBG_uc010cmt.2_5'UTR|SHBG_uc010cmu.2_5'UTR|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_5'UTR|SHBG_uc010cmv.2_5'UTR|SHBG_uc010cmw.2_5'UTR|SHBG_uc010cmx.2_5'UTR|SHBG_uc010cmy.2_5'UTR|SHBG_uc002gid.3_5'UTR|SHBG_uc010cnd.2_Missense_Mutation_p.A57T|SHBG_uc010cna.2_Missense_Mutation_p.A57T|SHBG_uc010vue.1_Missense_Mutation_p.A57T|SHBG_uc010vuf.1_Missense_Mutation_p.A57T|SHBG_uc010cnb.2_Missense_Mutation_p.A57T|SHBG_uc010cnc.2_Missense_Mutation_p.A57T NM_001040 NP_001031 P04278 SHBG_HUMAN sex hormone-binding globulin isoform 1 57 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) 0 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) AGAGCCTATCGCTGTCATGAC 0.537 NA 58 108 0 0 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954516 79954516 + Missense_Mutation SNP G G C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:79954516G>C uc002kcx.2 + 7 824 c.727G>C c.(727-729)GTT>CTT p.V243L ASPSCR1_uc002kcw.1_Missense_Mutation_p.V243L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.V243L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.V166L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.V166L NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 243 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) TGCCCCCTTTGTTCCTTTCTC 0.657 NA T TFE3 alveolar soft part sarcoma 20 42 0 0 0 0 CHMP1B 57132 broad.mit.edu 37 18 11851812 11851812 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:11851812C>T uc002kqe.2 + 1 424 c.302C>T c.(301-303)GCG>GTG p.A101V GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron NM_020412 NP_065145 Q7LBR1 CHM1B_HUMAN chromatin modifying protein 1B 101 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding 0 TCGATGGATGCGACATTGAAG 0.532 NA 4 194 0 0 0 0 C18orf1 753 broad.mit.edu 37 18 13645458 13645458 + Silent SNP C C G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:13645458C>G uc002ksa.2 + 7 1391 c.723C>G c.(721-723)ACC>ACG p.T241T C18orf1_uc002ksb.2_Silent_p.T223T|C18orf1_uc002kse.2_Silent_p.T204T|C18orf1_uc002ksf.2_Silent_p.T186T|C18orf1_uc002ksg.1_Silent_p.T164T|C18orf1_uc002ksh.1_Silent_p.T183T|C18orf1_uc002ksi.1_Silent_p.T165T NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 241 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) GTGCAAGCACCTGCAGCAGTA 0.582 NA 67 86 0 0 0 0 ZNF516 9658 broad.mit.edu 37 18 74091731 74091731 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:74091731C>T uc010dqx.1 - 3 2574 c.2339G>A c.(2338-2340)CGC>CAC p.R780H ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 780 C2H2-type 9; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GTGCCAGATGCGTTTGTGCAT 0.572 NA 13 30 0 0 0 0 GNA15 2769 broad.mit.edu 37 19 3148739 3148739 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:3148739G>A uc002lxf.2 + 2 554 c.296G>A c.(295-297)CGG>CAG p.R99Q GNA15_uc010xhf.1_Missense_Mutation_p.R99Q NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 99 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GCCATGGAGCGGCTGCAGATT 0.692 NA 7 1 0 0 0 0 DENND1C 79958 broad.mit.edu 37 19 6477435 6477435 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:6477435A>G uc002mfe.2 - 7 493 c.401T>C c.(400-402)TTT>TCT p.F134S DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.F90S NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 134 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 GGACTGCTGAAACAGATTTTG 0.627 NA 19 19 0 0 0 0 ZNF429 353088 broad.mit.edu 37 19 21719158 21719158 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:21719158G>A uc002nqd.1 + 4 440 c.303G>A c.(301-303)AGG>AGA p.R101R ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGACACTGAGGAGATATGATA 0.328 NA 5 45 0 0 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316366 73316366 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:73316366C>T uc002siu.3 - 2 750 c.509G>A c.(508-510)CGC>CAC p.R170H RAB11FIP5_uc002sit.3_Missense_Mutation_p.R92H NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 170 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CAGGTTGTTGCGCGTGAACTG 0.532 NA 6 586 0 0 0 0 SEMA4F 10505 broad.mit.edu 37 2 74883774 74883774 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:74883774G>A uc002sna.1 + 2 370 c.259G>A c.(259-261)GCT>ACT p.A87T SEMA4F_uc010ysb.1_Missense_Mutation_p.A87T|SEMA4F_uc010ffq.1_Missense_Mutation_p.A87T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A87T NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 87 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CACCATCTTCGCTTTATCCCT 0.527 NA 68 131 0 0 0 0 C2orf68 388969 broad.mit.edu 37 2 85836569 85836569 + Missense_Mutation SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:85836569T>A uc002sqc.2 - 3 439 c.367A>T c.(367-369)ATC>TTC p.I123F USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank NM_001013649 NP_001013671 Q2NKX9 CB068_HUMAN hypothetical protein LOC388969 123 central_nervous_system(1) 1 TGATAGACGATAACTGATGTG 0.542 NA 170 299 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179568957 179568957 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:179568957A>G uc010zfg.1 - 103 26632 c.26408T>C c.(26407-26409)ATT>ACT p.I8803T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5464T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9730 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACATCTGCAATGGTCAATTT 0.413 NA 91 181 0 0 0 0 MARS2 92935 broad.mit.edu 37 2 198571571 198571571 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:198571571G>A uc002uuq.2 + 1 1485 c.1442G>A c.(1441-1443)CGG>CAG p.R481Q uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 481 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) AGCTGTGTCCGGCAAACTAAT 0.542 NA 4 261 0 0 0 0 AGFG1 3267 broad.mit.edu 37 2 228416677 228416677 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:228416677G>A uc002vpc.2 + 11 1631 c.1381G>A c.(1381-1383)GCA>ACA p.A461T AGFG1_uc002vpd.2_Missense_Mutation_p.A485T|AGFG1_uc002vpe.2_Missense_Mutation_p.A461T|AGFG1_uc002vpf.2_Missense_Mutation_p.A421T NM_004504 NP_004495 P52594 AGFG1_HUMAN HIV-1 Rev binding protein isoform 2 461 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 TCTGTCAGCGGCAACCTTTGG 0.458 NA 4 231 0 0 0 0 KCNK15 60598 broad.mit.edu 37 20 43378887 43378887 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr20:43378887C>T uc002xmr.2 + 2 465 c.401C>T c.(400-402)GCG>GTG p.A134V NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 134 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) CGGCTGAACGCGGTGGTGCGG 0.682 NA 3 18 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36685234 36685234 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr22:36685234A>G uc003apg.2 - 32 4685 c.4454T>C c.(4453-4455)CTG>CCG p.L1485P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1485 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GGCTTCCTCCAGGGCCCGGGC 0.627 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 24 47 0 0 0 0 PHF5A 84844 broad.mit.edu 37 22 41863565 41863565 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr22:41863565G>A uc003bab.2 - 3 181 c.130C>T c.(130-132)CGC>TGC p.R44C ACO2_uc003bac.2_5'Flank|ACO2_uc003bad.2_5'Flank NM_032758 NP_116147 Q7RTV0 PHF5A_HUMAN PHD-finger 5A 44 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity 0 TCACATATGCGCACCAGAGTG 0.493 NA 43 60 0 0 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432939 111432939 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:111432939G>T uc003dya.2 + 3 1416 c.830G>T c.(829-831)GGC>GTC p.G277V PLCXD2_uc003dyb.2_Missense_Mutation_p.G277V|PLCXD2_uc003dxz.2_Missense_Mutation_p.G277V NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 277 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 ATTGCCCGGGGCTTGGTTGGG 0.502 NA 6 173 3.6e-05 4.12e-05 1 0 MYLK 4638 broad.mit.edu 37 3 123385193 123385193 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:123385193G>A uc003ego.2 - 22 3986 c.3704C>T c.(3703-3705)GCA>GTA p.A1235V MYLK_uc010hrr.2_5'Flank|MYLK_uc011bjv.1_Missense_Mutation_p.A35V|MYLK_uc011bjw.1_Missense_Mutation_p.A1235V|MYLK_uc003egp.2_Missense_Mutation_p.A1166V|MYLK_uc003egq.2_Missense_Mutation_p.A1235V|MYLK_uc003egr.2_Missense_Mutation_p.A1166V|MYLK_uc003egs.2_Missense_Mutation_p.A1059V NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1235 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGGGGCATTGCTGAGGGAGG 0.557 NA 42 166 0 0 0 0 SMC4 10051 broad.mit.edu 37 3 160150245 160150245 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:160150245G>A uc003fdh.2 + 22 3585 c.3472G>A c.(3472-3474)GAC>AAC p.D1158N IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D1133N|SMC4_uc003fdj.2_Missense_Mutation_p.D1158N|SMC4_uc010hwd.2_Missense_Mutation_p.D1100N|SMC4_uc003fdl.2_Missense_Mutation_p.D861N NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1158 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTGGGAGGGGACGCCGAACT 0.363 NA 8 89 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195505835 195505835 + Missense_Mutation SNP C C T rs58500707 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195505835C>T uc011bto.1 - 3 12692 c.12232G>A c.(12232-12234)GCC>ACC p.A4078T MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.597 NA 8 16 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195505838 195505838 + Missense_Mutation SNP G G C rs59101491 TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195505838G>C uc011bto.1 - 3 12689 c.12229C>G c.(12229-12231)CAC>GAC p.H4077D MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGCGTGACCTGTGGAT 0.597 NA 8 16 0 0 0 0 FRYL 285527 broad.mit.edu 37 4 48529997 48529997 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr4:48529997C>T uc003gyh.1 - 52 7736 c.7131G>A c.(7129-7131)AAG>AAA p.K2377K FRYL_uc003gyg.1_Silent_p.K1073K|FRYL_uc003gyi.1_Silent_p.K1265K|FRYL_uc003gyj.1_Silent_p.K672K NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2377 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CTGATGGGTTCTTTGGGAGGC 0.373 NA 5 152 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C C A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 NA 11 205 5.51e-06 6.34e-06 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480302 140480302 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr5:140480302G>A uc003lio.2 + 1 69 c.69G>A c.(67-69)GGG>GGA p.G23G uc003lin.2_RNA NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTGGGAGGGTCTCTGGCTG 0.498 NA 27 75 0 0 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357868 149357868 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr5:149357868C>T uc003lrh.2 + 2 921 c.653C>T c.(652-654)GCA>GTA p.A218V NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 218 Extracellular (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTGCTATGCAATTATGGTT 0.363 NA 50 134 0 0 0 0 OR2W1 26692 broad.mit.edu 37 6 29012436 29012436 + Missense_Mutation SNP T T C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:29012436T>C uc003nlw.2 - 1 517 c.517A>G c.(517-519)ATT>GTT p.I173V NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGATCCAGAATGTTGTTTCCA 0.378 NA 62 105 0 0 0 0 NEU1 4758 broad.mit.edu 37 6 31828219 31828219 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:31828219G>A uc003nxq.3 - 4 951 c.795C>T c.(793-795)TGC>TGT p.C265C NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Silent_p.C96C|NEU1_uc003nxs.3_Silent_p.C265C NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 265 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) TCCTGACCTGGCATTCATCAG 0.557 NA 4 163 0 0 0 0 KCNK5 8645 broad.mit.edu 37 6 39159524 39159524 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:39159524G>T uc003oon.2 - 5 1006 c.642C>A c.(640-642)AAC>AAA p.N214K NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 214 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 TGGCGCTGGGGTTCACACCTG 0.587 NA 65 121 4.39e-42 5.15e-42 1 0 CHPF2 54480 broad.mit.edu 37 7 150934838 150934838 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr7:150934838C>T uc003wjr.1 + 4 2903 c.1390C>T c.(1390-1392)CGC>TGC p.R464C CHPF2_uc003wjq.1_Missense_Mutation_p.R456C|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 464 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 GGCCCTGGCTCGCAGGGTCAG 0.652 NA 27 58 0 0 0 0 FAM86B2 653333 broad.mit.edu 37 8 12285220 12285220 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:12285220C>T uc003wvt.3 - 7 838 c.838G>A c.(838-840)GTG>ATG p.V280M FAM66D_uc011kxp.1_Intron|uc003wvm.1_Intron|uc011kxs.1_5'Flank|uc003wvp.1_5'Flank|FAM86B2_uc003wvq.3_RNA|FAM86B2_uc003wvr.3_Missense_Mutation_p.V103M|FAM86B2_uc003wvs.3_Missense_Mutation_p.V180M|FAM86B2_uc010lsn.2_RNA|FAM86B2_uc003wvu.3_Missense_Mutation_p.V89M|FAM86B2_uc010lso.2_RNA|FAM86B2_uc011kxt.1_Missense_Mutation_p.V52M|FAM86B2_uc011kxu.1_RNA|FAM86B2_uc010lsl.2_RNA NM_001137610 NP_001131082 P0C5J1 F86B2_HUMAN hypothetical protein LOC653333 280 0 GTAAAGGCCACGTAGACCTCA 0.652 NA 7 41 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55534066 55534066 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:55534066C>T uc003xsd.1 + 2 688 c.540C>T c.(538-540)TTC>TTT p.F180F RP1_uc011ldy.1_Silent_p.F180F NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 180 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCCAGAGCTTCGAGGCATTTC 0.637 NA 99 157 0 0 0 0 PDE7A 5150 broad.mit.edu 37 8 66691967 66691967 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:66691967G>A uc003xvq.2 - 3 283 c.271C>T c.(271-273)CGT>TGT p.R91C PDE7A_uc003xvr.2_Missense_Mutation_p.R91C|PDE7A_uc003xvp.2_Missense_Mutation_p.R65C NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 91 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGGAAAATACGAAAATCAATA 0.353 NA 8 191 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131130883 131130883 + Missense_Mutation SNP T T G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:131130883T>G uc003yta.1 - 18 1674 c.1646A>C c.(1645-1647)GAT>GCT p.D549A ASAP1_uc003ysz.1_Missense_Mutation_p.D360A|ASAP1_uc011liw.1_Missense_Mutation_p.D542A NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 549 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AAACCTATGATCTACATACTT 0.333 NA 35 32 0 0 0 0 RECK 8434 broad.mit.edu 37 9 36110017 36110017 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:36110017G>A uc003zyv.2 + 15 1915 c.1829G>A c.(1828-1830)TGC>TAC p.C610Y RECK_uc003zyw.2_Missense_Mutation_p.C482Y|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 610 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AATTTGGTGTGCTCTACCCGC 0.463 NA 118 193 0 0 0 0 C9orf5 23731 broad.mit.edu 37 9 111795700 111795700 + Silent SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:111795700A>G uc004bdt.3 - 17 2513 c.2481T>C c.(2479-2481)CCT>CCC p.P827P C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.P819P NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 827 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) AGAGAAGAATAGGACCGATGA 0.527 NA 3 186 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388129 131388129 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:131388129G>A uc004bvl.3 + 47 6249 c.6136G>A c.(6136-6138)GCC>ACC p.A2046T SPTAN1_uc004bvm.3_Missense_Mutation_p.A2051T|SPTAN1_uc004bvn.3_Missense_Mutation_p.A2026T|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2046 Spectrin 21. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCTTCTCGCCGCCAAACACGT 0.582 NA 6 314 0 0 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240782 39240796 + In_Frame_Del DEL CTGCTGCCGCCCCAG CTGCTGCCGCCCCAG - rs11650261 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:39240782_39240796delCTGCTGCCGCCCCAG uc010wfn.1 + 1 324_338 c.324_338delCTGCTGCCGCCCCAG c.(322-339)ACCTGCTGCCGCCCCAGC>ACC p.CCRPS109del NM_033061 NP_149050 keratin associated protein 4-7 0 gccagcccacctgctgccgccccagctgctgccgc 0.228 NA 8 61 --- --- --- --- NA NA NA NA PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:169896635_169896637delTGG uc010hws.1 - 2 132_134 c.68_70delCCA c.(67-72)ACCATC>ATC p.T23del PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.424 NA 8 852 --- --- --- --- NA NA NA NA MUC20 200958 broad.mit.edu 37 3 195452996 195452997 + Frame_Shift_Del DEL AG AG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195452996_195452997delAG uc010hzo.2 + 3 1135_1136 c.1009_1010delAG c.(1009-1011)AGAfs p.R337fs MUC20_uc010hzp.2_Frame_Shift_Del_p.R302fs|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 508 Involved in oligomerization. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CGCCACAGAAAGAGAAGTGACA 0.604 NA 14 126 --- --- --- --- NA NA NA NA NOV 4856 broad.mit.edu 37 8 120428777 120428778 + Frame_Shift_Del DEL AG AG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:120428777_120428778delAG uc003yoq.2 + 1 226_227 c.5_6delAG c.(4-6)CAGfs p.Q2fs NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 2 regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGAGCATGCAGAGTGTGCAGA 0.55 NA OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 41 --- --- --- --- NA NA NA NA